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Aortic Aneurysm, Familial Abdominal, 1 OMIM

The apparent association of a PAI1 polymorphism (4G/5G; 173360.0002) with familial AAA (see MOLECULAR GENETICS) was another observation that questioned the idea that atherosclerosis causes AAAs: whereas the 4G variant of PAI1 shows a protective role in AAA, it is undesirable in the context of coronary artery disease and atherosclerosis (Harris, 2001). ... Yoon et al. (1999) found that PAI1 and MMP9 genotypes, including the PAI1 4G/5G polymorphism (173360.0002), did not associate with aneurysms. Noting that the 5G variant of the PAI1 4G/5G polymorphism is associated with less inhibition of the plasminogen activators and, consequently, increased conversion of plasminogen to plasmin and increased activation of MMPs, Rossaak et al. (2000) studied the ratios of the 4G:5G genotypes in 190 patients with AAA, including 39 patients with strong family histories, and 163 controls, and found that 26% of patients with familial AAA were homozygous 5G compared with 13% of the control population.

MMP9, MMP14, SOD2, DAB2IP, ELN, AGT, AGTR1, ACE2, PTGS2, LOX, COL3A1, NCF1, CCL2, MMP2, ACE, MMP3, SERPINE1, CSF2, TIMP4, SELL, P2RY12, NOS2, EHF, LRP1, TGFBR2, LDLR, TGFBR1, FBN1, IL6R, TGFB3, ERG, MYH11, PCIF1, MYLK, SMAD3, SLC30A8, CDKN2B-AS1, TGFB2, ACTA2, NSMCE2, MAT2A, PRKG1, VPS51, CRP, ANKRD44, MTHFR, FOXE3, MFAP5, SPP1, TIMP1, IL6, PTPN22, TNF, ANGPT2, ANKRD44-IT1, IL10, APOE, IL1B, TIMP2, HIF1A, TIMP3, TNFRSF11B, PLG, IL1A, REN, MAPK8, IL17A, HLA-DRB1, SMUG1, HMOX1, CST3, TGFB1, PPARG, LEP, NOTCH1, VEGFA, LCN2, SIRT1, SORT1, THBD, ACTB, COX2, MMP12, MTCO2P12, MPO, TLR4, MIR145, CASP1, IFNG, PCSK9, AR, CD68, MAPK3, CXCL8, DPP4, ACSS2, DCN, GCG, LGALS3, NOX4, LPA, LRP5, MMP13, IL18, CPB2, MIR15A, CCR5, CDKN2A, PIK3CB, PIK3CD, PIK3CG, SERPINF2, RIPK1, MIR205, BGN, CXCL12, VCAM1, STAT3, TP53, ADAM17, TAGLN, ALOX5, AGER, THBS1, PIK3CA, HMGB1, AIM2, RBM45, CTSK, NOS3, CCN2, SERPINF1, NLRP3, PCYT1A, UQCRFS1, ADIPOQ, SELENOP, VDR, MMP10, IL4, IL1RN, KLF4, TXN, CXCR4, IFNA13, PLA2G15, ICAM1, CCN3, HP, CXCR2, PLA2G7, PGR, MAPK1, SERPINA1, RALBP1, MFAP4, CYSLTR1, FOXO4, PECAM1, PDGFA, PRKAA2, NHS, MPRIP, MMP7, LTBP4, RIPK3, JUN, ITGAX, MOK, MMP8, RENBP, FBLN5, PLAU, IFNA1, VCAN, FGF2, ACCS, MIR155, CTLA4, MIR33A, FCGR3B, FCGR3A, MIR30C2, MIR30A, F10, CAT, MIR29B2, CTSS, MIR29B1, ESR1, BAK1, ELAVL2, ELANE, EGR1, BAX, BCL2, EHMT1, ADM2, MIR21, DHFR, MIR195, CASP5, CYBB, CYP19A1, SMYD2, CSTB, CAD, GLP1R, HLA-A, GZMB, MAPK14, HLA-B, IL23A, DUOX1, PGR-AS1, CETP, FOXP3, ZGLP1, CCR2, HLA-DQA1, HLA-DRB3, APOA1, ACR, CERNA3, DUOX2, CDKN2B, PLA2G10, AAAS, MIR191, SPARCL1, MSC, SLC33A1, KAT2B, MIR183, RECK, IL18R1, MIR146A, MIR141, MIR147A, APLN, MBD4, MBD2, MIR126, MIR15B, KYNU, TNFSF14, TP63, CCL4L1, SERPINA13P, FCN3, ARHGEF2, ZNF148, FGF23, MIR455, TWIST1, HSP90B1, CRISP2, MIR545, TNFAIP6, POTEF, TMSB4X, C20orf181, MIR1260A, AAA1, LUCAT1, LINC00540, RAB4B-EGLN2, TP53COR1, TM7SF2, CXADRP1, TYROBP, NR4A3, UCP2, MIR221, KAT6A, MIR26A1, AIMP2, PXDN, ARMH1, ZBTB16, ZIC3, XBP1, VWF, VTN, VIM, MIR196B, FCMTE2, MIR363, ARSI, PYCARD, HCAR2, MYDGF, STARD7, MCF2L2, WDTC1, MMRN1, PCBP4, CARD8, ADAMTS5, ADAMTS8, CXCL16, GAS5, ZNF335, TSPYL2, SLC28A3, XYLT1, EBNA1BP2, IFIH1, UTS2, RETN, PAG1, PPARGC1A, ADCY10, MCTS1, MCAT, NOX1, POLDIP2, LRP10, RNF19A, TLR3, DDX58, SLC25A37, IL17D, PADI4, KAT6B, GNG2, DYM, IARS2, HEY2, ANGPTL2, ROBO3, HCST, KLHL35, SCO2, EGLN2, EGLN3, NCOR1, CCL4L2, PTGES, GDF15, SETD2, TIRAP, NTN1, GRAP2, TDRD10, OSCP1, FAM3D, PRSS55, ADCY10P1, TRIP13, IL27, NR1I3, HDAC5, HPSE, EBI3, CXCR6, POSTN, FSD1, DHX40, ZC3H12A, COL18A1, FSD1L, KAT8, AHSA1, SPZ1, ATG7, LANCL1, ABCC11, IL33, RABEPK, TRIM13, TSHZ1, ADAMTS1, SERPINA3, TLR2, EP300, EGFR, EFNA5, PHC1, E2F4, DNMT3A, DNMT1, DNASE1, DECR1, DDIT3, CYP2J2, CXADR, CX3CR1, CTSL, CTSH, CTSB, CSF1, CRK, CREBBP, CORT, COL5A2, COL1A2, CNN2, LTB4R, EIF4E, ESR2, TK1, ETS1, HDAC1, GYPE, GYPB, GYPA, GPX4, UTS2R, GAPDH, GABPA, GAA, MTOR, FOSB, FOS, FLT1, FLNA, FOXO1, FCGRT, FCGR2B, FCER1A, FBLN2, PTK2B, FABP4, F3, EZH2, CCR7, CCR6, CMA1, CGA, ARNTL, ARG1, ABCC6, AQP1, FASLG, APRT, APOH, ANXA2, ANGPT1, ALOX5AP, AKT1, AHCY, AGTR2, AEBP1, AP2A1, ADRB2, ADRA2B, PARP1, ADM, ADAM10, ADAM8, ACLY, ABO, ARR3, ARSA, ATM, CD14, CTSC, CD69, CD59, CD44, CD40LG, CD40, CD36, CD28, CD22, CD19, CD8A, AVP, CD1D, RUNX2, CAV1, CASR, CASP8, MYRF, C3, BTK, KLF5, BLVRA, HLA-DOA, HLA-G, HMGCR, SERPINA5, OPN1LW, PLAAT4, PVT1, PTX3, PTPRC, PTH, PTGER4, PTEN, PSMD7, PSMB8, PRTN3, PROC, PRKAR1A, PRKAB1, PRKAA1, PPIA, CTSA, PPARA, ABCA1, PLAT, PIN1, PF4, PEPD, S100A8, CCL4, CCL8, SRD5A1, TFAP2A, PRDX2, TAF1, ABCC8, STK11, STIM1, STAT5B, STAT5A, STAT1, SRY, SPG7, CCL11, SOX9, SOD1, SMARCA4, SLC16A1, SLC5A2, SHBG, SELP, CX3CL1, CCL20, CCL18, PDE3B, CNTN3, HNF4A, SERPINB2, KLK1, JUND, JUNB, ITGB2, ITGAM, ISG20, IL13, IL12B, IL9, CXCR1, IL2RA, IL2, IL1R1, IGKC, ICAM2, IARS1, HSPG2, HSPD1, HSPA5, HES1, HPN, HPGD, SLC29A2, RPSA, LTA4H, LTB, PPP1R12A, PRDX1, OA3, NRAS, NPPB, NOTCH3, NONO, NKTR, NFIB, NFE2L2, NF1, MYO9B, LTC4S, MUC5AC, MTRR, MTHFD1, MNDA, MMP1, NR3C2, MIF, MFAP1, MDK, MCAM, H3P28

Abdominal Aortic Aneurysm Wikipedia

Not to be confused with Aortic dissection . Abdominal aortic aneurysm Other names Triple-A CT reconstruction image of an abdominal aortic aneurysm (white arrows) Specialty Vascular surgery Symptoms None, abdominal, back, or leg pain [1] [2] Usual onset Over 50 years old males [1] Risk factors Smoking , high blood pressure , other heart or blood vessel diseases , family history , Marfan syndrome [1] [3] [4] Diagnostic method Medical imaging ( abdominal aorta diameter > 3 cm) [1] Prevention Not smoking, treating risk factors [1] Treatment Surgery ( open surgery or endovascular aneurysm repair ) [1] Frequency ~5% (males over 65 years) [1] Deaths 168,200 aortic aneurysms (2015) [5] Abdominal aortic aneurysm ( AAA or triple A ) [6] is a localized enlargement of the abdominal aorta such that the diameter is greater than 3 cm or more than 50% larger than normal. [1] They usually cause no symptoms, except during rupture. [1] Occasionally, abdominal, back, or leg pain may occur. [2] Large aneurysms can sometimes be felt by pushing on the abdomen. [2] Rupture may result in pain in the abdomen or back, low blood pressure , or loss of consciousness , and often results in death. [1] [7] AAAs occur most commonly in those over 50 years old, in men, and among those with a family history. [1] Additional risk factors include smoking , high blood pressure , and other heart or blood vessel diseases . [3] Genetic conditions with an increased risk include Marfan syndrome and Ehlers-Danlos syndrome . [4] AAAs are the most common form of aortic aneurysm . [4] About 85% occur below the kidneys with the rest either at the level of or above the kidneys. [1] In the United States , screening with abdominal ultrasound is recommended for males between 65 and 75 years of age with a history of smoking. [8] In the United Kingdom and Sweden, screening all men over 65 is recommended. [1] [9] Once an aneurysm is found, further ultrasounds are typically done on a regular basis. [2] Not smoking is the single best way to prevent the disease. [1] Other methods of prevention include treating high blood pressure, treating high blood cholesterol , and not being overweight . [1] Surgery is usually recommended when the diameter of an AAA grows to >5.5 cm in males and >5.0 cm in females. [1] Other reasons for repair include the presence of symptoms and a rapid increase in size, defined as more than one centimeter per year. [2] Repair may be either by open surgery or endovascular aneurysm repair (EVAR). [1] As compared to open surgery, EVAR has a lower risk of death in the short term and a shorter hospital stay, but may not always be an option. [1] [10] [11] There does not appear to be a difference in longer-term outcomes between the two. [12] Repeat procedures are more common with EVAR. [13] AAAs affect 2-8% of males over the age of 65. [1] Rates among women are one-fourth as high. [1] In those with an aneurysm less than 5.5 cm, the risk of rupture in the next year is below 1%. [1] Among those with an aneurysm between 5.5 and 7 cm, the risk is about 10%, while for those with an aneurysm greater than 7 cm the risk is about 33%. [1] Mortality if ruptured is 85% to 90%. [1] During 2013, aortic aneurysms resulted in 168,200 deaths, up from 100,000 in 1990. [5] [14] In the United States AAAs resulted in between 10,000 and 18,000 deaths in 2009. [4] Contents 1 Signs and symptoms 1.1 Complications 2 Causes 3 Pathophysiology 4 Diagnosis 4.1 Classification 4.2 Differential diagnosis 5 Prevention 6 Screening 7 Management 7.1 Conservative 7.2 Medication 7.3 Surgery 7.3.1 Open repair 7.3.2 Endovascular repair 7.4 Rupture 8 Prognosis 9 Epidemiology 10 History 11 Society and culture 12 Research 12.1 Risk assessment 12.2 Experimental models 12.3 Prevention and treatment 13 References 14 External links Signs and symptoms [ edit ] Abdominal aortic aneurysm location The vast majority of aneurysms are asymptomatic. However, as abdominal aortic aneurysms expand, they may become painful and lead to pulsating sensations in the abdomen or pain in the chest, lower back, or scrotum. [15] Complications [ edit ] The complications include rupture, peripheral embolization , acute aortic occlusion, and aortocaval (between the aorta and inferior vena cava ) or aortoduodenal (between the aorta and the duodenum ) fistulae . On physical examination, a palpable and pulsatile abdominal mass can be noted. Bruits can be present in case of renal or visceral arterial stenosis . [16] The signs and symptoms of a ruptured AAA may include severe pain in the lower back, flank, abdomen or groin. A mass that pulses with the heart beat may also be felt. [7] The bleeding can lead to a hypovolemic shock with low blood pressure and a fast heart rate .
Aortic Aneurysm, Familial Abdominal, 2 OMIM

For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 (100070). Mapping Shibamura et al. (2004) performed a whole-genome scan of AAA using affected relative-pair (ARP) linkage analysis that included covariates to allow for genetic heterogeneity. They identified a region on chromosome 4 with a lod score of 3.73 (P = 0.0012) near marker D4S1644 (4q31) when including sex and the number of affected first-degree relatives of the proband as covariates.
Aortic Aneurysm, Familial Abdominal, 3 OMIM

For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 (100070). Mapping The identification of 2 single-nucleotide polymorphisms (SNPs) on chromosome 9p21 in adjacent linkage disequilibrium blocks associated with type 2 diabetes (rs10811661; see 125853) and coronary artery disease (CAD) (rs10757278; see CHDS8, 611139 and Helgadottir et al., 2007) raised the possibility that a region on 9p21 could predispose to both disorders through a shared biologic mechanism. Helgadottir et al. (2008) investigated this possibility by genotyping these SNPs in Icelandic individuals with 1 of 5 arterial diseases or type 2 diabetes, as well as in several additional case-control sets of European descent with the same phenotypes. They found that, in addition to CAD, the G allele of rs10757278 was associated with abdominal aortic aneurysm (OR = 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (see ANIB6, 611892), but not with type 2 diabetes. The estimated risk conferred by the G allele of rs10757278 for intracranial aneurysm and AAA was very similar across 3 intracranial aneurysm sample sets from Iceland, Finland, and the Netherlands.
Abdominal Aortic Aneurysm Mayo Clinic

Overview An abdominal aortic aneurysm is an enlarged area in the lower part of the body's main artery, called the aorta. The aorta runs from the heart through the center of the chest and belly area, called the abdomen. The aorta is the largest blood vessel in the body. An abdominal aortic aneurysm that ruptures can cause life-threatening bleeding. Treatment depends on the size of the aneurysm and how fast it's growing. Treatment varies from regular health checkups and imaging tests to emergency surgery.
Abdominal Aortic Aneurysm GARD

Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome.
Aortic Aneurysm, Familial Abdominal, 4 OMIM

For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 (100070). Mapping Bown et al. (2011) performed a genomewide association study in 1,866 patients with abdominal aortic aneurysm (AAA) and 5,435 controls, and performed replication analysis of 9 promising signals (p less than 10(-5)) in 2,871 additional AAA cases and 32,687 controls, with further follow-up in 1,491 AAA cases and 11,060 controls. The lead SNP at 1 of the 9 loci, rs1466535, located within intron 1 of the LRP1 gene (107770) on chromosome 12q13.3, demonstrated significant association in the replication sample (p = 0.0042), with confirmation in the follow-up study (p = 0.035). In a combined analysis, rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 x 10(-10); odds ratio, 1.15). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease (see 607339), blood pressure (see 145500), diabetes (see 125853), or hyperlipidemia (see 144250), suggesting that this locus is specific to AAA.

Hypothyroidism, Congenital, Nongoitrous, 4 OMIM

In a 4-month-old girl with congenital nongoitrous hypothyroidism, born of consanguineous parents, Pohlenz et al. (2002) identified homozygosity for a splice site mutation (IVS2+5G-A; 188540.0005) in the TSHB gene. ... Borck et al. (2004) identified homozygosity for the IVS2+5G-A splice site mutation in 4 children with congenital hypothyroidism from 2 consanguineous Turkish families.

TSHB

Alzheimer Disease 9, Susceptibility To OMIM

A significant association was also found for a splice site variant (c.5570+5G-C; rs200538373) that was shown to cause premature termination (OR 1.91, p = 3.8 x 10(-6)). ... The SNP rs78117248 was in linkage disequilibrium with GWAS SNPs rs3764650, rs4147929, and rs3752246; regression analysis removed the association between the GWAS SNPs and disease. In the Belgian study, the c.5570+5G-C variant identified by Steinberg et al. (2015) occurred at a frequency of more than 1% in both patients and controls, and was not associated with AD.

ABCA7

Long Qt Syndrome 12 OMIM

In addition to the SNTA1 missense mutation, affected members of this family also carried a variant of unknown significance in the KCNQ1 gene (607542), IVS7+5G-A. INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Prolonged QT interval on electrocardiogram - Ventricular fibrillation MISCELLANEOUS - Syncopal episodes - Risk of sudden death due to cardiac arrhythmia MOLECULAR BASIS - Caused by mutation in the alpha-1 syntrophin gene (SNTA1, 601017.0001 ) ▲ Close

SCN4B, KCNQ1, SCN5A, KCNH2, KCNE1, KCNQ1OT1, KCNE2, CAV3, NOS1AP, KCNA4, KCNA5, KCNK3, EDA, SGK1, GJB6, AKAP9, HAND2, HGS, RWS, SNTA1, CALM1, SRSF5, ERBB2, CALM2, SCD, CACNA1C, ATN1, HARS1, GOLGA2, ATP2B4

Long Qt Syndrome 13 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-13 (LQT13) is caused by heterozygous mutation in the KCNJ5 gene (600734) on chromosome 11q24. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Yang et al. (2010) studied a large 4-generation Chinese family segregating autosomal dominant long QT syndrome (LQTS).
Long Qt Syndrome 2 OMIM

A number sign (#) is used with this entry because long QT syndrome-2 (LQT2) is caused by heterozygous mutation in the HERG gene (KCNH2; 152427) on chromosome 7q36. Digenic inheritance has also been reported; see MOLECULAR GENETICS. There is evidence that mutation in the KCR1 gene (ALG10B; 603313) on chromosome 12q12 confers reduced susceptibility to acquired long QT syndrome-2. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).
Long Qt Syndrome 10 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-10 (LQT10) and familial atrial fibrillation-17 (ATFB17) are caused by heterozygous mutation in the SCN4B gene (608256) on chromosome 11q23. For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583). Clinical Features Long QT Syndrome 10 Medeiros-Domingo et al. (2007) reported a 5-year-old Mexican mestizo girl who at 21 months of age was found to have asymptomatic bradycardia with rates less than 60 bpm. An ECG revealed profound QT prolongation with a QTc of 712 ms and intermittent 2:1 AV block; during 1:1 conduction, macroscopic T-wave alternans was observed.
Long Qt Syndrome 3 OMIM

Veldkamp et al. (2003) concluded that sodium channel mutations displaying an I-pst or a negative shift in inactivation may account for the bradycardia seen in LQT3 patients, whereas SA node pauses or arrest may result from failure of SA node cells to repolarize under conditions of extra net inward current. In a patient with long QT syndrome-3, Rivolta et al. (2001) identified a tyr1795-to-cys mutation in the SCN5A gene (Y1795C; 600163.0029).
Cardiac Arrhythmia, Ankyrin-B-Related OMIM

A number sign (#) is used with this entry because a cardiac arrhythmia syndrome with variable manifestations can be caused by heterozygous mutation in the ankyrin-B gene (ANK2; 106410) on chromosome 4q25-q26. Long QT syndrome-4 can also be caused by mutation in the ANK2 gene. For a general phenotypic description and a discussion of genetic heterogeneity of long QT syndrome, see 192500. Description Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.'
Long Qt Syndrome 14 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-14 (LQT14) is caused by heterozygous mutation in the CALM1 gene (114180) on chromosome 14q32. For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Crotti et al. (2013) reported an Italian girl who underwent cardiac arrest due to ventricular fibrillation (VF) at age 6 months. Electrocardiogram (ECG) after defibrillation showed a markedly prolonged QTc interval (630 ms), frequent episodes of T-wave alternans, and intermittent 2:1 atrioventricular block. Echocardiogram showed normal cardiac anatomy and contractile function.
Long Qt Syndrome 9 OMIM

A number sign (#) is used with this entry because long QT syndrome-9 (LQT9) is caused by heterozygous mutation in the CAV3 gene (601253), which encodes caveolin-3, on chromosome 3p25. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Molecular Genetics Vatta et al. (2006) analyzed the CAV3 gene (601253) in 905 unrelated patients with long QT syndrome who had previously been tested for mutations in known LQT genes; in 6 patients, they identified 4 heterozygous missense mutations (601253.0016-601253.0019, respectively) that were not found in more than 1,000 control alleles.
Long Qt Syndrome 1 OMIM

A number sign (#) is used with this entry because long QT syndrome-1 (LQT1) is caused by heterozygous mutation in the KQT-like voltage-gated potassium channel-1 gene (KCNQ1; 607542) on chromosome 11p15. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). Genetic Heterogeneity of Long QT Syndrome Other forms of LQT syndrome (LQTS) are LQT2 (613688), caused by mutation in the KCNH2 gene (152427); LQT3 (603830), caused by mutation in the SCN5A gene (600163); LQT4 (see 600919), caused by mutation in the ANK2 gene (106410); LQT5 (613695), caused by mutation in the KCNE1 gene (176261); LQT6 (613693), caused by mutation in the KCNE2 gene (603796); LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390), caused by mutation in the KCNJ2 gene (600681); LQT8 (618447), caused by mutation in the CACNA1C gene (114205); LQT9 (611818), caused by mutation in the CAV3 gene (601253); LQT10 (611819), caused by mutation in the SCN4B gene (608256); LQT11 (611820), caused by mutation in the AKAP9 gene (604001); LQT12 (612955), caused by mutation in the SNTA1 gene (601017); LQT13 (613485), caused by mutation in the KCNJ5 gene (600734); LQT14 (616247), caused by mutation in the CALM1 gene (114180), and LQT15 (616249), caused by mutation in the CALM2 gene (114182).
Familial Long Qt Syndrome Orphanet

Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Epidemiology Disease prevalence is estimated at close to 1 in 2,500 live births. Clinical description The two cardinal manifestations of LQTS are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. Etiology The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes ( KCNQ1 , KCNH2 , KCNE1 , KCNE2 , CACNA1c , CAV3 , SCN5A , SCN4B ) cause the disease by prolonging the duration of the action potential.
Long Qt Syndrome 15 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-15 (LQT15) is caused by heterozygous mutation in the CALM2 gene (114182) on chromosome 2p21. For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Crotti et al. (2013) reported a Hispanic girl in whom fetal bradycardia was first noted at 21 weeks' gestation; fetal echocardiogram showed normal cardiac anatomy and function except for bradycardia. Two hours after birth she exhibited sinus bradycardia, T-wave alternans, markedly prolonged QTc (690 ms), and 2:1 AV block. At 3 weeks of age, she underwent cardiac arrest with multiple episodes of ventricular fibrillation (VF), during which time she also suffered a cerebral infarction of the right parietal lobe.
Long Qt Syndrome 5 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-5 (LQT5) is caused by heterozygous mutation in the KCNE1 gene (176261) on chromosome 21q22. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Molecular Genetics In affected members of 2 families with long QT syndrome, Splawski et al. (1997) identified heterozygosity for different missense mutations in the KCNE1 gene (176261.0003-176261.0004).
Long Qt Syndrome 6 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-6 (LQT6) is caused by heterozygous mutation in the KCNE2 gene (603796) on chromosome 21q22. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Abbott et al. (1999) reported a healthy 38-year-old Caucasian female who had had ventricular fibrillation while jogging.
Long Qt Syndrome 11 OMIM

A number sign (#) is used with this entry because of evidence that long QT syndrome-11 (LQT11) is caused by heterozygous mutation in the gene encoding the A-kinase anchor protein-9 (AKAP9; 604001) on chromosome 7q21. One such family has been reported. For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). Molecular Genetics In a 13-year-old Caucasian girl with long QT syndrome, who was negative for mutation in the known LQT genes, Chen et al. (2007) identified heterozygosity for a ser1570-to-leu (S1570L; 604001.0001) substitution in the AKAP9 gene.

Hypomagnesemia With Secondary Hypocalcemia Wikipedia

Reference Nucleotide Amino acid c.C166T R56X N-terminus [1] c.C422T S141L N-terminus No [2] , [3] , [4] , [5] c.G469T E157X N-terminus [4] c.T521G I174R N-terminus [6] c.668delA D223fsX263 N-terminus [4] c.1010+5G→C Splicing N-terminus [1] c.A1060C T354P N-terminus [6] c.1134+5G→A Splicing N-terminus [6] c.1208-1G→A Splicing N-terminus [4] c.1280delA H427fsX429 N-terminus No [2] , [4] c.1308+1G→A Splicing N-terminus [4] c.C1437A Y479X N-terminus [6] c.C1450T R484X N-terminus [1] c.C1769G S590X N-terminus No [2] , [4] , [7] c.del1796-1797 P599fsX609 N-terminus [4] c.2009+1G→A Splicing N-terminus [1] , [6] c.G2120A C707Y N-terminus [6] c.2207delG R736fsX737 N-terminus No [2] , [4] , [7] c.2537-2A→T Splicing N-terminus [4] c.2667+1G→A Splicing [2] , [4] c.C2782T R928X M3 No [4] c.del Ex 21 M4 [4] c.Del2831-2832insG I944fsX959 M4-M5 [4] c.3209-68A→G Splicing [1] c.del Ex 22 + 23 M5-6 [4] C.3537-1G→A Splicing [2] , [4] c.3779-91del Q1260fsX1283 C-terminus [2] , [4] c.del Ex 25 - 27 C-terminus [4] c.del Ex 26 Y1533X C-terminus No [4] c.5017-18delT L1673fsX1675 C-terminus No [4] c.del Ex 31 + 32 C-terminus No [4] c.5057+2T→C Splicing C-terminus [4] c.A5775G Splicing C-terminus [4] Diagnosis [ edit ] Diagnosis typically occurs during the first 6 months of life due to characteristic neurological symptoms.

TRPM6, TRPM7, ACTN4, VEGFD, PKD2, CLDN16

Primary Hypomagnesemia With Secondary Hypocalcemia GARD

Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany ( spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm ( cardiac arrhythmia ) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods ( hypocalcemia ). It is caused by mutations in the TRPM6 gene. Inheritance is autosomal recessive.
Hypomagnesemia With Secondary Hypocalcemia MedlinePlus

Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia).
Hypomagnesemia 1, Intestinal OMIM

A number sign (#) is used with this entry because of evidence that this form of hypomagnesemia with secondary hypocalcemia (HOMG1) is caused by homozygous or compound heterozygous mutations in the TRPM6 gene (607009) on chromosome 9q21. Description Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage.
Primary Hypomagnesemia With Secondary Hypocalcemia Orphanet

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. Epidemiology To date, approximately 100 cases have been described in the literature. Both sexes are equally affected. Clinical description Disease onset is often in the neonatal period and always before the end of the first year of life. The predominant symptom at initial presentation is generalized and recurrent seizures which are refractory to the conventional convulsive therapy.

Parkinson Disease 22, Autosomal Dominant OMIM

Screening of 340 further index cases with autosomal dominant Parkinson disease by Sanger sequencing detected another patient with the T61I variant as well as an arg145 to gln (R145Q; 616244.0002) and c.300+5G-A (616244.0003) mutation in 1 patient each.

CHCHD2

Child Syndrome Wikipedia

It is mixed as follows: to make 250 ml: Grind up lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder (NDC# 51927-1203-00, PCCA) 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz Epidemiology [ edit ] Frequency [ edit ] CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature.

NSDHL, HSDL1, EBP, DHCR7, TOR1A, FDFT1

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects MedlinePlus

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side. People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face.
Child Syndrome Orphanet

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Epidemiology Less than 60 cases have been reported to date, mainly in female patients. Clinical description CS patients present at birth or shortly thereafter with unilateral yellow ichthyosiform nevi in the form of patches halting abruptly at the midline, with an affinity to skin folds (ptychotropism), generally sparing the face. A claw-like onychodystrophy and periungual hyperkeratosis are common and ipsilateral bald patches may be present. This is accompanied by ipsilateral limb defects, ranging from shortened metacarpals and phalanges to the absence of an entire limb.
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects OMIM

A number sign (#) is used with this entry because CHILD syndrome has been found to be caused by mutation in the gene encoding NSDHL (300275). Description CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males (Happle et al., 1980). CK syndrome (300275), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype. Clinical Features Falek et al. (1968) described sibs with this combination, and other familial cases are known. Tang and McCreadie (1974) described in brief the autopsy findings in a case.
Child Syndrome GARD

CHILD syndrome , also known as c ongenital h emidysplasia with i chthyosiform erythroderma and l imb d efects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The symptoms normally occur on one side of the body. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.

Tyrosinemia Type I GeneReviews

Targeted analysis for the p.Pro261Leu pathogenic variant can be performed first in individuals of Ashkenzai Jewish ancestry; this variant accounts for more than 99% of the pathogenic variants in this population [Elpeleg et al 2002]. The pathogenic variant c.1062+5G>A (IVS12+5 G>A) accounts for 87.9% of pathogenic variants in the French Canadian population [Poudrier et al 1996]. The four common FAH pathogenic variants – c.1062+5G>A (IVS12+5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G), and p.Pro261Leu – account for approximately 60% of pathogenic variants in tyrosinemia type I in the general US population [CR Scott, unpublished data]. ... Two regions of the world have a higher than expected frequency of tyrosinemia type I due to the increased frequency of certain pathogenic variants resulting from a founder effect: In the Scandanavian countries (c.1062+5G>A (IVS 12+5 G>A), p.Gly337Ser, and/or p.249HisfsTer5.5) and in Finland (p.Trp262Ter), the birth prevalence is estimated at 1:74,000 and 1:60,000 live births, respectively [Bliksrud et al 2012]. A founder effect from colonization by French settlers is present in the province of Quebec, Canada. The c.1062+5G>A (IVS12+5 G>A) pathogenic variant accounts for 87% of allelic variants in this population.

FAH, HPD, TAT, HPPD, OGG1, PCSK9, REEP5, TYR, TTR, OTC, ACAT1, AFP, MAA, IDUA, GSTZ1, ERCC1, ALAD, MAT1A

Tyrosinemia, Type I OMIM

Restriction analysis of PCR-amplified genomic DNA identified 74% of the mutated alleles. The IVS12+5G-A mutation (613871.0003), which is predominant in French Canadian tyrosinemia type I patients, was the most common mutation being present in 32 alleles in patients from Europe, Pakistan, Turkey, and the United States. ... Despite the high prevalence of the IVS12+5G-A mutation (613871.0003) in the northwestern European population, Arranz et al. (2002) found only 2 patients with this mutation from the group of 29 patients.
Tyrosinemia Type 1 Orphanet

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. Epidemiology Birth incidence is 1/100,000 in most areas but is more common is some regions, notably in Québec, Canada. Clinical description HT1 is clinically heterogenous. Symptoms may start during the first few months (acute type), in second half of the first year (subacute type) or in the following years up to adulthood (chronic type). In the acute type, manifestations of hepatic failure predominate (bleeding diathesis, hypoglycemia, ascites etc) with frequent sepsis and rapid deterioration. Mild proximal tubular disease is usually present. Subacute type manifests a similar but less severe clinical picture presenting usually with hepatomegaly or hypophosphatemic rickets (due to tubular dysfunction).
Tyrosinemia Type 1 GARD

Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive , diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner. Treatment should be started as soon as the condition is diagnosed and includes a diet restricted in tyrosine and phenylalanine along with nitisinone, a medication that blocks the second step in the tyrosine degradation pathway.
Tyrosinemia MedlinePlus

Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting.
Tyrosinemia Type I Wikipedia

Tyrosinemia type I Other names Hereditary Tyrosinemia type I, HT1 Mutation of enzyme fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway Specialty Hepatology, nephrology, neurology Symptoms Failure to thrive, enlarged liver, fever, vomiting, diarrhea Usual onset Variable, usually with the first 2 years of life Duration Life long Causes Genetic (autosomal recessive) Diagnostic method Dried blood spot testing, urinalysis, genetic testing Treatment Dietary restrictions, Nitisinone, liver transplantation Medication Nitisinone Prognosis 93% survival rate at six years with treatment Frequency 1 in 1,850 (Saguenay-Lac Saint-Jean region, Quebec) Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine , resulting in damage primarily to the liver along with the kidneys and peripheral nerves . [1] The inability of cells to process tyrosine can lead to chronic liver damage ending in liver failure , as well as renal disease and rickets . Symptoms such as poor growth and enlarged liver are associated with the clinical presentation of the disease. [2] Clinical manifestation of disease occurs typically within the first two years of life. The severity of the disease is correlated with the timing of onset of symptoms, earlier being more severe. [1] Tyrosinemia type I is an autosomal recessive disorder caused by mutations in the both copies of the gene encoding the enzyme fumarylacetoacetate hydrolase (FAH) . FAH is a metabolic enzyme that catalyzes the conversion of fumarylacetoacetate to fumarate and acetoacetate . It is expressed primarily in the liver and kidney. Loss of FAH activity results in the accumulation of certain metabolic intermediates in the tyrosine catabolic pathway . [2] These compounds are toxic to cells and lead to differential gene expression and apoptosis in high concentrations. [2] HT1 is diagnosed when elevated levels of succinylacetone (SA), one of the metabolites in this pathway, is detected in blood and urine samples . [1] While there is no cure for tyrosinemia type I, management of the disease is possible utilizing dietary restrictions and medications .

Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia OMIM

They found an intronic point mutation, 1882+5G-A (300300.0004), leading to skipping of an exon located in the tyrosine kinase domain.

POU1F1, RNPC3, GHRHR, GHRH, GHSR, KISS1R, KISS1, CSHL1, NR5A1, GH1, TG, TACR3, GNRH1, GNRHR, HESX1, SOX3, LHX4, GLI2, PROP1, OTX2, LHX3, IGF1, GHR, IGHD, IGFBP3, SLC20A1, BTK, PHEX, PAX6, FBXO8, GPR101, HGH1, FBRS, ALB, SDS, SOAT1, SHBG, BRD2, PRL, MMUT, POMC

Kowarski Syndrome OMIM

A number sign (#) is used with this entry because of evidence that Kowarski syndrome is caused by mutation in the growth hormone gene (GH1; 139250) on chromosome 17q. Mutation in the GH1 gene also causes several types of isolated growth hormone deficiency (IGHD); see 262400 for a summary. Description Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005). Clinical Features Kowarski et al. (1978) studied 2 unrelated 3-year-old boys with growth retardation and delayed bone ages, and with normal immunoreactive growth hormone after stimulation but low levels of somatomedin. Unlike the result in patients with Laron dwarfism (262500), exogenous human growth hormone induced normal levels of somatomedin and a significant increase in growth rate.
Growth Hormone Deficiency Wikipedia

Growth hormone deficiency Other names Pituitary dwarfism Growth hormone Specialty Endocrinology Symptoms Short height [1] Complications Low blood sugar , high cholesterol levels , poor bone density [1] [2] Types Congenital , acquired [1] Causes Not enough growth hormone [3] Risk factors Genetics , trauma, infections, tumors , radiation therapy [2] Diagnostic method Blood tests for growth hormone [2] Differential diagnosis Small for gestational age , Turner syndrome , Noonan syndrome , Prader-Willi syndrome [2] Treatment Growth hormone replacement [1] Frequency Unclear [2] Growth hormone deficiency ( GHD ) is a medical condition resulting from not enough growth hormone (GH). [3] Generally the most noticeable symptom is that an individual attains a short height . [1] Newborns may also present low blood sugar or a small penis size. [2] In adults there may be decreased muscle mass, high cholesterol levels , or poor bone density . [1] GHD can be present at birth or develop later in life. [1] Causes may include genetics , trauma, infections, tumors , or radiation therapy . [2] Genes that may be involved include GH1 , GHRHR , or BTK . [3] In a third of cases no cause is apparent. [2] The underlying mechanism generally involves problems with the pituitary gland . [2] Some cases are associated with a lack of other pituitary hormones , in which case it is known as combined pituitary hormone deficiency . [4] Diagnosis involves blood tests to measure growth hormone levels. [2] Treatment is by growth hormone replacement using synthetic human growth hormone. [1] The frequency of the condition is unclear. [2] Most cases are initially noticed in children. [1] The genetic forms of this disease are estimated to affect about 1 in 7,000 people. [3] Most types occur equally in males and females though males are more often diagnosed. [2] Contents 1 Signs and symptoms 1.1 Child 1.2 Adults 2 Causes 3 Pathophysiology 4 Diagnosis 4.1 Classification 5 Treatment 5.1 Child 5.2 Adults 5.3 Side effects 6 Prognosis 6.1 Child 6.2 Adults 7 Epidemiology 8 History 9 See also 10 References 11 External links Signs and symptoms [ edit ] Child [ edit ] Severe prenatal deficiency of GH, as occurs in congenital hypopituitarism , has little effect on fetal growth. However, prenatal and congenital deficiency can reduce the size of a male's penis , especially when gonadotropins are also deficient. Besides micropenis in males, additional consequences of severe deficiency in the first days of life can include hypoglycemia and exaggerated jaundice (both direct and indirect hyperbilirubinemia). [ citation needed ] Even congenital GH deficiency does not usually impair length growth until after the first few months of life. From late in the first year until mid teens, poor growth and/or shortness is the hallmark of childhood GH deficiency. Growth is not as severely affected in GH deficiency as in untreated hypothyroidism , but growth at about half the usual velocity for age is typical.
Isolated Growth Hormone Deficiency, Type Ia OMIM

A number sign (#) is used with this entry because isolated growth hormone deficiency type IA (IGHD1A) is caused by homozygous or compound heterozygous mutation in the GH1 (139250) on chromosome 17q23. Description Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014). Genetic Heterogeneity of Isolated Growth Hormone Deficiency See IGHD1B (617281) and IGHD2 (173100), both caused by mutation in the GH1 gene; IGHD3 (307200), caused by mutation in the BTK gene (300300); IGHD4 (618157), caused by mutation in the GHRHR gene (139191); and IGHD5 (618160), caused by mutation in the RNPC3 gene (618016). Nomenclature In an early classification of IGHD (Phillips and Cogan, 1994), 4 forms of IGHD were based on ihheritance pattern. IGHD IA and IB (612781) were both inherited in an autosomal recessive manner.
Isolated Growth Hormone Deficiency GARD

Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone without other hormonal problems. Growth hormone is a protein necessary for normal growth of the bone and body tissues. Because people with this condition don't have enough of this hormone, they have short stature, which is noticeable from early childhood. There are basically four different types of isolated growth hormone deficiency, which are classified by the severity of the symptoms, the cause and the inheritance: isolated growth hormone deficiency type IA , isolated growth hormone deficiency type IB , isolated growth hormone deficiency type II and isolated growth hormone deficiency type III . Treatment involves giving growth hormone to those who are affected.

Immunodeficiency 19 OMIM

Gil et al. (2011) identified a homozygous splice-site mutation in the CD3D gene (IVS2+5G-A; 186790.0003) in the 2 unrelated Ecuadorian children they reported with IMD19.

CD3D

Adrenal Fatigue Wikipedia

Adrenal Fatigue from the Endocrine Society v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.

Phantom Vibration Syndrome Wikipedia

Retrieved September 4, 2011 . v t e Mobile phones mobile networks , protocols Channel capacity Frequencies Multi-band Network operator list Roaming Signal SIM card dual SIM SIM lock Standards comparison Tethering VoIP WAP XHTML-MP generations analogue : 0G 1G digital : 2G 3G adoption 3.5G 4G 4.5G 5G 6G general operation Features GSM services History Operating system Security phone cloning Telephony airplane mode Text messaging SMS MMS RCS Spam Tracking Web browsing mobile devices Manufacturers 3D phone Camera phone Car phone Feature phone Projector phone Satellite phone Smartphone form factors Bar Flip Phablet Slider Smartwatch smartphones Android devices rooting BlackBerry 10 iPhone iOS jailbreaking Open-source mobile phones Symbian devices Windows Phone devices mobile specific software apps Development Distribution Management Cloud computing commerce Banking Marketing advertising campaigns Payments contactless donating Ticketing content Blogging Email Gambling Gaming Health Instant messaging Learning Music News Search local Social address book Television culture Box breaking Charms Comics Dating Japanese culture Novels Ringtones silent mode Selfie Txt-spk Wallpaper environment and health BlackBerry thumb Driving safety Electronic waste External power supply Mental health from overuse Phantom vibration syndrome Radiation and health Recycling law Carrier IQ Legality of recording by civilians Mobile phones in prison Photography and the law Telephone tapping Texting while driving USA use restrictions while driving Category Portal

Leaky Gut Syndrome Wikipedia

PMID 27435372 . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.

Wilson's Temperature Syndrome Wikipedia

Orlando Sentinel . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.

Candida Hypersensitivity Wikipedia

Retrieved 18 January 2014 . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.

Supravalvular Aortic Stenosis OMIM

In addition, molecular analysis of patient fibroblasts showed that the 2044+5G-C (130160.0020) mutant allele encodes an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner.

ELN, CASQ2, GTF2IRD1, APOB, BAZ1B, PCSK9, ABCG8, ABCG5, MLXIPL, TBL2, LDLRAP1, FBLN5, CLIP2, RFC2, PTPN11, LIMK1, LDLR, GTF2I, ELN-AS1, FBN1, PDLIM1, CALCA, ITGB3

Supravalvular Aortic Stenosis MedlinePlus

Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery ). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam.
Supravalvular Aortic Stenosis Orphanet

A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement). Epidemiology The incidence of supravalvular aortic stenosis (SVAS) is estimated at approximately 1 in 25 000 births and the mean prevalence in the general population at 1/7 500. Clinical description Clinical manifestations of SVAS include ejection systolic murmur and, in some cases, symptoms of chest pain or syncope. The electrocardiogram may indicate signs of a repolarisation disorder at rest and/or signs of ischemia after a stress test.
Supravalvular Aortic Stenosis GARD

Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person; some individuals may die in infancy while others never experience symptoms. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery.

Hutchinson-Gilford Progeria Syndrome GeneReviews

Classic Genotype HGPS and Nonclassic Genotype HGPS: Causative LMNA Variants and Comparative Clinical Phenotypes View in own window Genotype LMNA Pathogenic Variant (Predicted Protein Change) Phenotypic Features Compared to Classic HGPS 1 # of Affected Persons Identified Reference Classic HGPS c.1824C>T (p.Gly608=) 2 See footnote 3 113 Eriksson et al [2003], De Sandre-Giovannoli et al [2003] Nonclassic HGPS c.1822G>A (p.Gly608Ser) Moderate 5 Eriksson et al [2003], PRF c.1821G>A (p.Val607=) 2 Severe; neonatal progeria 3 Moulson et al [2007], Reunert et al [2012], PRF c.1968G>A (p.Gln656=) 2 Very mild 2 Hisama et al [2011], Barthélémy et al [2015] c.1968+1G>C Severe 2 Iqbal & Iftikhar [2008], PRF c.1968+1G>A Severe 4 Moulson et al [2007], Navarro et al [2004], PRF c.1968+2T>A Mild 2 Bar et al [2017], PRF c.1968+2T>C Mild 1 PRF c.1968+5G>A Very mild 2 Hisama et al [2011], PRF c.1968+5G>C Moderate 3 PRF HGPS = Hutchinson-Gilford progeria syndrome; PRF = Progeria Research Foundation Diagnostic Testing Program 1.

LMNA, ZMPSTE24, ANK3, PYCR1, SPRTN, SIRT6, ROBO3, ERCC4, WRN, XPA, ATM, H2AX, NAT10, BANF1, TP53, SUN1, GGT1, GH1, LMNB1, ICMT, ING1, FOXM1, PLA2G1B, YWHAZ, SOX2, MTOR, GGTLC4P, PLB1, ERCC2, GGT2, GGTLC3, BUB1B, LMNB2, GGTLC5P, AMPD1, SMURF2, GOLGA6A, GTF2H5, FGF23, POU5F1P3, XPO1, VDR, POU5F1P4, KLF4, TPR, TP53BP1, TIMP1, SREBF1, SQSTM1, ADIPOQ, KL, HTRA2, EHMT1, CTC1, RCBTB1, SRSF5, SOST, SETD2, MGME1, GGCT, SIRT1, TWIST2, PLA2R1, HFM1, LEMD2, EDIL3, SRSF6, A2M, SRSF1, CD55, GLB1, GJA1, GFAP, GABPA, FDPS, ERCC6, ERCC1, ELN, NQO1, DES, CTNNB1, ROS1, CRP, CDKN2A, CDH5, BTF3P11, BRCA1, BGLAP, APRT, ALPL, AKT1, ACAN, SFN, HDAC2, HIP1, HMOX1, RARB, RAN, RAD51, ALDH18A1, ACTB, PRKAB1, PRKAA2, PRKAA1, PRELP, POU5F1, PLG, PECAM1, TNFRSF11B, NFE2L2, GADD45B, MFAP1, MDM2, MXD1, TNPO1, KCNMA1, IGF1, PRPS1

Hutchinson-Gilford Progeria Syndrome OMIM

An unrelated patient with a similar disorder carried a different splice site mutation that also affected exon 11 (c.1968+5G-A; 150330.0056). Patient cells in both cases showed the presence of progerin at lower levels than observed in typical HGPS cells.
Progeria Mayo Clinic

Overview Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear healthy at birth. During the first year, symptoms such as slowed growth, loss of fat tissue and hair loss begin to appear. Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years.
Progeria GARD

Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive heart disease.
Hutchinson-Gilford Progeria Syndrome Orphanet

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
Hutchinson-Gilford Progeria Syndrome MedlinePlus

Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.

Citrullinemia, Classic OMIM

The mutations gly390 to arg (G390R; 603470.0009), IVS13+5G-A (603470.0017), and arg108 to leu (R108L; 603470.0014) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; 603470.0015) and gly362 to val (G362V; 603470.0016) were detected on alleles of mildly affected patients.

ASS1

Citrullinemia Type I Wikipedia

Citrullinemia type I Other names Argininosuccinate synthase deficiency, ASS deficiency, Argininosuccinic acid synthase deficiency Citrullinemia type I is autosomal recessive Citrullinemia type I ( CTLN1 ), also known as arginosuccinate synthetase deficiency , is a rare disease caused by a deficiency in argininosuccinate synthetase , an enzyme involved in excreting excess nitrogen from the body. [1] There are mild and severe forms of the disease, which is one of the urea cycle disorders . Contents 1 Signs and symptoms 2 Genetics 3 Pathogenesis 4 Diagnosis 5 Treatment 6 Epidemiology 7 References 8 External links Signs and symptoms [ edit ] Signs and symptoms of CTLN1 in infants are caused by increasing levels of ammonia in the blood and cerebrospinal fluid and include excessive vomiting , anorexia , refusal to eat, irritability, increased intracranial pressure , and worsening lethargy , seizures , hypotonia , respiratory distress , hepatomegaly , and cerebral edema . These symptoms appear within days of birth in the more severe forms of the disease with complete deficiency of the enzyme. As ammonia accumulates further, the affected infant may enter a hyperammonemic coma , which indicates neurological damage and can cause developmental delays , cognitive disabilities , cerebral palsy , hypertonia , spasticity , ankle clonus , seizures, and liver failure . [2] Milder forms of the disease are caused by partial arginosuccinate synthetase deficiency and may manifest in childhood or in adulthood. Symptoms of mild CTLN1 include failure to thrive , avoidance of high-protein foods, ataxia , worsening lethargy, and vomiting.
Citrullinemia Type I Orphanet

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).

Wind Turbine Syndrome Wikipedia

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Kohlschütter-Tönz Syndrome Wikipedia

This results in a frameshift in the gene causing a premature stop codon in exon 3. [5] Another is known as c.531+5G>C. This mutation destroys the splice acceptor and donor sites resulting in an in-frame deletion.

ROGDI, SLC13A5, ACADSB, AUH, DHCR7, HSD17B10, ACAD8, FKBP14