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Tibial Hemimelia
OMIM
They suggested that there are 4 well-established and 2 other possible autosomal dominant tibial hemimelia syndromes in addition to 2 types with autosomal recessive inheritance. ... Limbs - Absent tibia Inheritance - Autosomal recessive - also other dominant and recessive tibial hemimelia syndromes ▲ Close
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Nievergelt Syndrome
OMIM
Nakamura et al. (2007) suggested that the Savarirayan and Nievergelt types may be allelic autosomal dominant disorders. History Urban and Kruger (1998) suggested that Nievergelt syndrome was the correct diagnosis in 24-year-old Alice Vance from Mount Pleasant, Texas, who was among the malformed individuals presented at the world exhibition in Antwerp in 1894. ... Her mother was known to have similar malformations. INHERITANCE - Autosomal dominant GROWTH Height - Dwarfism, short limb mesomelic HEAD & NECK Face - Normal face SKELETAL Limbs - Lower leg mesomelia - Genua valga - Rhomboidal shape of tibiae and fibulae - Relative overgrowth of fibula - Radioulnar synostosis - Radial head subluxation Feet - Clubfoot - Tarsal bone synostosis - Metatarsal synostosis SKIN, NAILS, & HAIR Skin - Dimples (medial and lateral aspect of lower leg) NEUROLOGIC Central Nervous System - Normal intelligence ▲ Close
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Keloid Formation
OMIM
The pattern of inheritance observed in these families was consistent with an autosomal dominant mode with incomplete clinical penetrance and variable expression. ... In addition, association with keloid was found with rs8032158 in the NEDD4 gene (602278) on chromosome 15q21.3 (p = 5.96 x 10(-13); OR, 1.51). Inheritance - Autosomal dominant Skin - Keloids ▲ Close
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Congenital Dyserythropoietic Anemia Type Iii
Orphanet
Three families have been reported with autosomal dominant CDA III in Sweden, America and Argentina. ... It is inherited in an autosomal dominant mode. Other sporadic CDA III-like cases have been reported with an autosomal recessive pattern of inheritance, suggesting a different genetic alteration than KIF23 associated CDA III and possibly another subtype of CDA.
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Lutheran Null
OMIM
Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. ... INHERITANCE - Autosomal recessive HEMATOLOGY - Absence of Lutheran antigen on red blood cells - Lu(a-b-) phenotype LABORATORY ABNORMALITIES - Presence of serum anti-Lu3 antibodies MISCELLANEOUS - No phenotypic manifestations - See also autosomal dominant Lutheran-null phenotype ( 111150 ) MOLECULAR BASIS - Caused by mutation in the B-cell adhesion molecule gene (BCAM, 612773.0001 ) ▲ Close
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Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
OMIM
The authors suggested recessive inheritance or gonadal mosaicism for a dominant mutation. Courtens et al. (2005) reported an infant born of nonconsanguineous Moroccan parents with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. ... Genetic analysis showed no mutation in the WNT7A gene (601570). INHERITANCE - Autosomal dominant - Isolated cases SKELETAL Limbs - Absence of the fibula - Hypoplasia of the fibula - Bowing of the tibia - Shortening of the tibia Hands - Oligosyndactyly Feet - Oligosyndactyly MISCELLANEOUS - Present at birth - Variable phenotype ▲ Close
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Deafness, Autosomal Recessive 26
OMIM
Riazuddin et al. (2000) also mapped a dominant deafness modifier, designated DFNM1 (605429), that suppressed deafness in the 7 nonpenetrant individuals to a 5.6-cM region on chromosome 1q24, with a lod score of 4.31 at theta = 0.0 for D1S2815. ... Reviews Nadeau (2001) reviewed modifier genes in mice and humans, dividing the types of modification as follows: reduced penetrance, dominance modification, expressivity, and pleiotropy.
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Deafness, Autosomal Recessive 26, Modifier Of
OMIM
Riazuddin et al. (2000) mapped a dominant deafness modifier, which they designated DFNM1, that suppressed deafness in the 7 nonpenetrant individuals to a 5.6-cM region on chromosome 1q24, with a lod score of 4.31 at theta = 0.0 for D1S2815. ... The authors suggested that differential regulation of SPRY2 might be the mechanism by which the METTL13 variant functions as a modifier to prevent deafness caused by mutation in the GAB1 gene. INHERITANCE - Autosomal dominant HEAD & NECK Ears - Normal hearing despite being homozygous for a deafness-causing mutation in the GAB1 gene ( 604439.0001 ) MISCELLANEOUS - Based on report of 1 large consanguineous Pakistani family (last curated June 2018) MOLECULAR BASIS - Protection conferred by mutation in the methyltransferase-like 13 gene (METTL13, 617987.0001 ) ▲ Close
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Fatal Insomnia
Wikipedia
Similar to other prion diseases, the diagnosis can only be confirmed by a brain autopsy at post-mortem. [1] Fatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, confusional states like that of dementia, and eventually death. [6] The average survival time from onset of symptoms is 18 months. [6] The first recorded case was an Italian man, who died in Venice in 1765. [7] Contents 1 Signs and symptoms 2 Cause 3 Pathophysiology 4 Diagnosis 4.1 Differential diagnosis 5 Treatments 6 Prognosis 7 Epidemiology 7.1 Silvano, 1983, Bologna, Italy 7.2 Unnamed patient of Schenkein and Montagna, 2001 7.3 Egyptian man, 2011, Netherlands 8 Research 9 Popular culture 10 References 11 External links Signs and symptoms [ edit ] The disease has four stages: [8] The person has increasing insomnia , resulting in panic attacks , paranoia , and phobias . ... In 1998, 40 families were known to carry the gene for FFI globally: eight German, five Italian, four American, two French, two Australian, two British, one Japanese, and one Austrian. [18] In the Basque Country , Spain, 16 family cases of the 178N mutation were seen between 1993 and 2005 related to two families with a common ancestor in the 18th century. [19] In 2011, another family was added to the list when researchers found the first man in the Netherlands with FFI. ... He managed to write a book and drive hundreds of miles in this time, but nonetheless, over the course of his trials, the person succumbed to the classic four-stage progression of the illness. [24] [23] Egyptian man, 2011, Netherlands [ edit ] Timeline of an FFI patient (same as the one above this one) In 2011, the first reported case in the Netherlands was of a 57 year-old man of Egyptian descent. ... The 2019 movie, Awoken , uses FFI as a major plot element. [ citation needed ] FFI is a major plot element and is described in detail in the Lewis episode "Falling Darkness". In the first episode of the 2020 TV series Next , one of the main characters confesses to have the disease and says "It's a real thing, look it up." ... W.; Capellari, S.; Rozemuller, A. J. M. (13 July 2011). "The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits".
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Aniridia And Absent Patella
OMIM
The patella was either hypoplastic or aplastic. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Aniridia - Cataracts - Glaucoma SKELETAL Limbs - Hypoplastic patella ▲ Close
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Ear Antitragus, Tag At Base Of
OMIM
One of the families contained an instance of male-to-male transmission. Inheritance - Autosomal dominant Ears - Tag, nodule or localized elevation at base of antitragus ▲ Close
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Deafness-Ear Malformation-Facial Palsy Syndrome
Orphanet
It has been described in three sibs and their mother. Inheritance is autosomal dominant.
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Pseudoatrophoderma Colli
OMIM
Frost and Epstein (1939) described affected sisters. Inheritance - Autosomal dominant Skin - Pseudoatrophic papillary and pigmentary dermatosis of neck ▲ Close
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Anonychia With Flexural Pigmentation
OMIM
Nails - Anonychia Inheritance - Autosomal dominant Skin - Axillary and groin hyperpigmentation and hypopigmentation - Dry skin of soles and palms ▲ Close
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Acute Bronchitis
Wikipedia
Dullness to percussion and pleural rub suggest disease extension beyond the bronchi such as seen with pneumonia. [14] [15] Paroxysms of cough followed by inspiratory whoop and vomiting suggests pertussis . [17] Prevention [ edit ] Prevention is by not smoking and avoiding other lung irritants. [5] Frequent hand washing may also be protective. [5] Furthermore, an oral whole cell nontypeable Haemophilus influenzae vaccine given in the fall has demonstrated short term effectiveness in reducing the frequency and severity of the disease during the winter. [18] Treatment [ edit ] Most cases are self-limited and resolve themselves in a few weeks. ... Foxwell, Ruth (ed.). "Haemophilus influenzae oral whole cell vaccination for preventing acute exacerbations of chronic bronchitis".
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Peripheral Neuropathy
Mayo Clinic
Make healthy lifestyle choices These habits support your nerve health: Eat a diet rich in fruits, vegetables, whole grains and lean protein to keep nerves healthy. ... Good nutrition is especially important to make sure that you get important vitamins and minerals. Include fruits, vegetables, whole grains and lean protein in your diet.GJB3, PMP22, CTLA4, MYOT, LYST, ERCC1, ERCC4, ERCC3, SLC12A6, NGF, ABCB1, IL6, CYP2C8, IGF1, GFAP, RHOBTB2, TCF4, GSTP1, MYO5A, SOX8, PSMB1, CSF3, CPT1C, GJE1, DYNC1I1, NEFH, AURKA, SERPINB2, NPY, PPARD, PRKCE, CDKN2A, DPYD, UCHL1, SOD2, XK, ATF3, MKI67, IGF1R, CACNA1H, ALOX12, ICAM1, PNPLA6, TNFRSF10A, MMP3, MBL2, GAN, JUN, CACNA1B, GLI1, CASP9, ABCA1, DAPK1, ABCC1, MPZ, GJB1, TTR, HSPB1, EGR2, GARS1, APTX, KIF1B, GDAP1, PRPS1, HFE, ATXN3, MYH14, PMM2, MFF, SEPTIN9, SURF1, ND5, OPA1, ND2, HSPB3, CYTB, MYD88, RAB3GAP1, SOX10, ATP6, XPA, SPG11, SCN9A, MAG, WNK1, SCO2, TFG, INS, AARS1, HADHA, RETREG1, RNF113A, ND6, NDUFA4, NDUFA2, ADA2, TRNK, RAB18, SMC1A, INPP5K, SUCLA2, NAGA, NDUFAF3, PNKP, ND4L, LDB3, SLC30A10, ACER3, SETD5, MARS1, KIF1C, AP5Z1, KMT2A, SCN11A, SGPL1, SNAP29, SMC3, AGPAT2, COX3, ND1, NDUFA10, ND4, NDUFA9, NDUFS3, NDUFB8, PPARG, PEX7, PDSS1, AMACR, SMPD1, RAB3GAP2, PHYH, IARS2, SDHA, TXN2, SCP2, NDUFS1, PPOX, PRKAR1A, SCN10A, DNAJC3, NIPBL, ATXN8OS, OSTM1, BSCL2, PEX5, PDHA1, PDE4D, NDUFA13, ABCC8, NDUFS2, RAD21, NDUFV1, XPC, NDUFS4, NDUFS8, WFS1, NDUFV2, WIPF1, NF2, WAS, TPI1, ZFR, TNFRSF1B, LIPT1, VPS13A, NOTCH2, TIMMDC1, TACO1, FOXRED1, COX1, HLA-DRB1, TMPRSS6, HK1, COX15, CPOX, SLC5A7, TTBK2, NDUFAF6, HADH, HADHB, GTF2E2, MPLKIP, SIL1, TBC1D20, MTFMT, CYP27A1, GNGT1, GCLC, NDUFAF5, FA2H, DDB2, SLC52A3, SLC46A1, ECHS1, GCK, NDUFAF2, ERCC2, ERCC5, ERCC6, PHF6, FOS, HSD3B7, SLC19A3, CAVIN1, HDAC8, AR, NDUFA12, ATP5F1E, PDX1, INSR, KIF1A, ATXN8, AGXT, BTNL2, CISD2, KCNJ11, CA2, CAPN1, CAV1, TBC1D24, GTF2H5, NDUFS7, CD28, PET100, AP1S1, MFN2, AIFM1, HDAC6, TNF, CEP72, DNM2, TRPV4, PRNP, FIG4, ATXN2, RNMT, BDNF, TRPV1, SARM1, SACS, SPTLC1, MTM1, HMGB1, NEFL, LY6E, NFE2L2, HSPB8, PLP1, VEGFA, YARS1, MTMR2, HARS1, APOE, CYP3A5, EGFR, POLG, GPT, SIGMAR1, GABPA, SBF2, FXN, PIK3CG, SOD1, NRG1, LMNA, MAPK14, TRPA1, CSF2, HINT1, SLC22A4, ST3GAL4, AKR1A1, AIRE, ITIH4, IL10, LITAF, MMP9, NFASC, IFNG, PRX, MPV17, IGFALS, CNTNAP1, NDRG1, KMT2D, CAV3, SETX, RAB7A, AKR1B1, ZBTB17, SH3TC2, ACTG1, MAPK1, AFP, PIK3CA, NGFR, PRKCB, GFER, NAMPT, PRKCA, PRRT2, PIK3CB, KIF5A, TYMP, ACE, ARHGEF10, REN, REEP1, NOS1, S100B, PIK3CD, LAMC2, PMP2, FGD4, NMNAT2, C20orf181, MIR29A, PNPLA2, RPIA, IMMT, AHSA1, POLE4, ANO10, D2HGDH, SPG36, SEPTIN3, RAI1, HPSE, POTEM, ZGLP1, POTEKP, MIR381, MEG3, ACOT7, AVIL, MIR146A, CHSY1, SLC47A1, NAA50, SLURP1, CD274, PART1, PINK1, RNF19A, POLDIP2, KIFBP, FGF21, NLRP2, CYP2U1, DCPS, DBNL, STEAP4, SCYL1, SCA18, C12orf65, SLC25A46, DGAT2, ICOS, PTRH2, EHMT1, DHH, ATL1, TUBB1, EBF2, NIPA1, TCHHL1, INF2, SLC12A5, EP400, GSTK1, KRT20, ACTBL2, GLDN, LAMA1, MCF2L2, POLD4, COPD, AGTPBP1, EPGN, CRBN, NEDD4L, HARS2, TREM2, NRG4, BACE1, VSIR, SLCO6A1, FBXO7, TRIM2, SERPINA3, FBLN5, FOLR1, GLA, GHSR, GFRA1, GDNF, GCG, GAS1, GAP43, FMR1, PRLHR, FGF14, PTK2B, FAAH, F2RL1, EPO, EPHB2, ENO2, GLP1R, GPX1, EMP1, IL1B, CXCR2, CXCR1, CXCL8, IL6ST, IL4, IL2, IL1RN, IGHMBP2, GRIN1, IFRD1, HSPB2, HMBS, HGF, GSTT1, GSK3B, CXCL1, CTTN, EGF, SEMA4D, ARSA, MS4A1, CD1D, CCNH, CAPG, BMP7, BCHE, BBS2, FAS, TNFRSF8, ANK1, ALOX15, ABCD1, ALB, AGRP, ACTG2, ACTB, CD86, CD59, DLG4, CTNNB1, DES, DDIT3, DAG1, CYP17A1, CYP3A4, CX3CR1, CTSS, CCN2, LTB4R, CST3, CSF1R, CRP, CRK, CNTF, CNR2, CMTX3, KARS1, KDR, LAMA2, SPR, TP53, THBD, THAS, TGFB1, TCN2, TACR1, STK11, SPAST, VCP, SOX4, FSCN1, SLC22A5, CCL4, CCL2, SCN4A, SCN2A, TYMS, AIMP2, LDLR, SPTLC2, TUBB3, LRPPRC, TSFM, DCLRE1A, LRIG2, ABCG1, MAD2L1BP, FHL5, CUL4B, GRAP2, ARTN, EIF2B5, NR1I2, RAB11A, CST7, ELP1, ATXN7, ATXN1, SBF1, MAPT, NCAM1, NAIP, NAB2, NAB1, MTR, MTHFR, MPO, MAP6, RIEG2, MAP4, MAP1B, SMAD3, LYZ, LRP1, LIF, LEP, NM, NOS2, NOTCH1, NTRK1, RET, RARRES2, PXMP2, PTPN13, PTK2, PTEN, PRTN3, PRPH, ABCB4, PGR, SERPINF1, PDK3, PCBP1, PRKN, P2RX3, H3P5
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Food Poisoning
Mayo Clinic
Use a meat thermometer to make sure meat is cooked enough. Cook whole meats and fish to at least 145 F (63 C) and let rest for at least three minutes. Cook ground meat to at least 160 F (71 C). Cook whole and ground poultry to at least 165 F (74 C).
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Catatrichy
OMIM
Hair - Fine wavy forelock Inheritance - Autosomal dominant ▲ Close
- Pulmonary Atresia With Ventricular Septal Defect OMIM
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Lunulae Of Fingernails
OMIM
Nails - Fingernail lunulae size Inheritance - Autosomal dominant ▲ Close