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Microvenular Hemangioma Wikipedia

Microvenular hemangioma Other names Microcapillary hemangioma [1] ) Specialty Oncology Microvenular hemangioma is an acquired benign vascular tumor that presents as an asymptomatic , slowly growing, 0.5- to 2.0 cm reddish lesion on the forearms or other sites of young to middle-aged adults. [2] See also [ edit ] List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 596 . ISBN 978-0-7216-2921-6 . External links [ edit ] Classification D ICD - 10 : D18.0 ICD-O : M9120/0 v t e Tumours of blood vessels Blood vessel Hemangiosarcoma Blue rubber bleb nevus syndrome Hemangioendothelioma Composite Endovascular papillary Epithelioid Kaposiform Infantile Retiform ) Spindle cell Proliferating angioendotheliomatosis Hemangiopericytoma Venous lake Kaposi's sarcoma African cutaneous African lymphadenopathic AIDS-associated Classic Immunosuppression-associated Hemangioblastoma Hemangioma Capillary Cavernous Glomeruloid Microvenular Targeted hemosiderotic Angioma Cherry Seriginosum Spider Tufted Universal angiomatosis Angiokeratoma of Mibelli Angiolipoma Pyogenic granuloma Lymphatic Lymphangioma / lymphangiosarcoma Lymphangioma circumscriptum Acquired progressive lymphangioma PEComa Lymphangioleiomyomatosis Cystic hygroma Multifocal lymphangioendotheliomatosis Lymphangiomatosis Either Angioma / angiosarcoma Angiofibroma This Dermal and subcutaneous growths article is a stub .

PGR
Adult-Onset Immunodeficiency Syndrome Wikipedia

You can help by adding to it . ( September 2017 ) Society and culture [ edit ] The swash.com website uses AIDS 2.0 as the moniker for maybe another, apparently highly contagious AIDS-like condition described by The Epoch Times . [4] The Daily Beast has described this disease emphatically as not AIDS 2.0. [5] References [ edit ] ^ Browne, S. ... Retrieved 26 August 2012 . ^ "AIDS 2.0: Highly contagious disease spreading in China" . ... "New Thai-Taiwanese Syndrome Is Not AIDS 2.0" . The Daily Beast . Retrieved 26 August 2012 .
- Adult-Onset Immunodeficiency With Anti-Interferon-Gamma Autoantibodies Orphanet
  
  A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.
- Adult-Onset Immunodeficiency With Anti-Interferon-Gamma Autoantibodies Gard
  
  Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies is an immunodeficiency disorder . It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens). People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person's own tissues. It is predominantly reported in Southeast Asians who were previously healthy.
Endometrial Hyperplasia Wikipedia

. - Figure- available via license: Creative Commons Attribution 2.0 Generic ^ Rao, Shalinee; Sundaram, Sandhya; Narasimhan, Raghavan (2009). ... PMID 20838554 . - Figure- available via license: Creative Commons Attribution 2.0 Generic ^ Cote, Richard; Suster, Saul; Weiss, Lawrence; et al., eds. (2002). Modern Surgical Pathology (2 Volume Set) . London: W B Saunders. ISBN 0-7216-7253-1 . [ page needed ] ^ Skov, B.

PTEN, CELSR2, DDX1, CSRP1, CDKN1C, ESR1, TP53, MSH2, PGR, KRAS, MLH1, CTNNB1, CDKN2A, BCL2, RPL36A, ERRFI1, HSD17B7, GLI1, SF3B6, PTGS2, GABPA, POU5F1, LAMTOR2, MRC1, ARID1A, SUB1, CDK2AP2, SERPINF1, IGF1, ADIPOQ, ESR2, NFE2L2, S100A9, ADM, RPP14, APC, POU5F1P4, H3P8, AR, CYP2B6, POU5F1P3, CYP19A1, ST14, TSC2, SFRP4, CD24, NCOA3, VHL, SCGB1A1, TMED7-TICAM2, MTCO2P12, SPRR2F, H3P23, TNF, MIR181A2, TERT, SULT1E1, STAT3, SRC, TFF3, PAG1, AKR1C3, PBK, MMP26, TMED7, PCBP4, TMEFF2, RASSF1, PNPLA2, DCTN6, ZNRD2, NANOG, CHAF1A, HS3ST2, HTRA3, KLK4, NCOR2, CHST3, TAS2R63P, TICAM2, KLF4, SQSTM1, KAT2B, MALAT1, NCOA1, PKM, OPN1LW, GNRH2, GLI3, GLI2, GJB2, GJB1, GJA1, MTOR, EPHB4, EIF4E, DNMT1, AKR1C1, CYP17A1, CYP11A1, CYP1A1, CREBBP, COMT, CDK6, CDK4, CDK2, CCND3, CCNB1, CASP3, CCND1, ATM, STS, APOE, GNRH1, HFE, RBP1, HMOX1, RBL2, RARB, PSMD9, PRL, MAPK3, PRKCD, PPARA, AMH, PIK3CA, PAX2, PAK1, OVGP1, COX2, MMP2, MMP1, LEP, LCN2, RPSA, KCNH2, INSR, IL2, IGF2, IFI27, HPN, HOXA10, H3P10
Cognitive Deficit Wikipedia

Discovering Psychology . Worth Publishers. ISBN 0-7167-5704-4 . [ page needed ] ^ Fried, Yehuda; Joseph Agassi (1976). ... Needham Heights, MA, USA: Allyn & Bacon. ISBN 0-205-14164-1 . Das, J.P. (2002). A better look at intelligence. ... Cambridge: Cambridge University Press. pp. 445–476. ISBN 978-0-521-59648-0 . Lay summary (22 July 2013). ... Essentials of Psychological Testing . John Wiley & Sons. ISBN 978-0-471-41978-5 . Lay summary (10 October 2013). ... Cambridge: Cambridge University Press. pp. 20–38. ISBN 978-0-521-73911-5 . Lay summary (9 February 2012).

PSEN1, MAPT, APP, APOE, COMT, FMR1, GSK3B, BCHE, PTGS2, DRD2, EPO, CDK5R1, VIP, FGF14, MAOA, EIF2S1, SLC1A1, SLC10A2, MET, DRD3, SMAD4, LAMB2, TSC1, AGT, ZNF41, RAB40AL, SLC51A, NR0B2, IGF2, OTC, SLC51B, CRH, ABCC4, FOSB, OXTR, SLC4A10, AFF4, SLC6A4, CYP2D6, ACHE, DYRK1A, BDNF, PVALB, DISC1, NFE2L2, CHRNA4, BACE1, PIK3CB, PIK3CA, PIK3CD, PIK3CG, SIRT1, GABPA, SNCA, TNF, MTOR, HTT, RELN, DTNBP1, CFP, CDK9, KL, AKT1, NUFIP2, VEGFA, GBA, GRN, GRM5, ACTB, CNR1, CSF2, DLG4, MME, IL6, SYP, LAMC2, DMD, IL4, IL1B, NGF, PREP, PERCC1, MIR34A, PDE4A, PDE2A, EPHB2, FOXP1, MAPK1, TARDBP, SNAP25, ADIPOQ, FUS, HTR2A, NRG1, TCF4, TGFB1, HDAC6, GRM2, GRM3, SUCLA2, ABCA1, CREB1, CDK5, CASP6, CACNA1C, ADAM10, CRP, H3P40, NUBP1, NFKB1, RUNX1T1, NGFR, DCTN4, ASCC1, NOTCH3, MECP2, NTS, UBQLN2, AGTR1, POLDIP2, CD36, CD40, CASP1, AKR1C4, HMGB1, LRRK2, CHRNA7, NLRP3, IGF1, CHRNA5, COASY, SHROOM4, IL10, EHMT1, INSR, CIP2A, CDR1, LEP, RNF19A, PLA2G1B, NUP62, HDAC2, SPP1, SPTBN1, GRAP2, LGI1, TM7SF2, SQSTM1, ARHGEF7, SYNJ1, APLN, UBE3A, BECN1, VCAM1, TP63, VSNL1, YWHAZ, GTF2IRD1, SLC6A8, ANGPT1, PTPN11, PTPA, CALB1, MAPK8, SYNM, PTEN, HRH3, REST, SLC1A2, S100B, NRG3, SCN1A, KHDRBS1, AHSA1, SIGMAR1, TAAR1, TREM2, AIMP2, GAD1, GTF2H1, DAB1, GRIA1, CRK, GH1, MIR132, GFAP, FGFR3, ADCYAP1, CREBBP, CUX1, DBH, CX3CR1, CYBB, ERBB4, DBN1, NR3C1, PLB1, MAPK14, CHL1, MIR361, NPS, SNORD116@, CXCR6, SPAG11A, SFTPA1, PDE10A, TXNRD2, BAIAP2, SPAG11B, TUBA1B, RTN3, MIR574, GJB6, ADAMTS13, PPARGC1A, MIR342, ALDH2, SIRT3, ADNP, MED13L, CRTC1, MIR21, AGTPBP1, ASTN2, MDD1, ARC, PHF8, NMNAT2, VN1R17P, GPR166P, FAM107A, PSIP1, IL1RAPL1, OLIG2, SDS, EHMT2, GADD45G, AMPH, SETD1A, OPN1MW2, PSME3, OCLN, FPGT-TNNI3K, OPN1MW3, CBSL, ANXA1, HDAC3, SYNGAP1, ADA, APOA1, UPK3B, MTCO2P12, PDE5A, NCOA1, H3P45, PSMG1, KHSRP, NCK2, APOB, FZD4, ANP32A, AP3B2, EIF2S2, NOL3, CDKL2, NTN1, KEAP1, NCS1, HDAC9, ABCG1, CCR2, PTGES, HOMER2, AD10, GS1-600G8.3, C20orf181, SEMA5A, NRXN1, ANK3, ANPEP, TGM5, SRSF11, NOG, ECT, LPAR2, USP2, MIR188, OR2AG1, MIR181C, ALB, CALHM1, SPG11, PCSK9, TNFAIP8L2, PLEKHF1, LYNX1, DCLRE1C, LGR6, ACE2, NGB, PCDH10, SEMA6A, MRGPRX1, ADRA2B, PCDH19, KIDINS220, COPD, ADRB1, PCBP4, ACKR3, NPAS4, GPRC6A, DIPK2A, SRCIN1, ADCYAP1R1, GPR151, VPS13B, HSPB6, ADRA1A, DEGS2, OXER1, MRGPRX4, MRGPRX3, OMA1, KLHDC8B, TRAPPC9, CDCA5, FOXP2, CHRDL1, SLC39A13, CHRFAM7A, PTPN5, C9orf72, ADRA2A, KLF16, PAG1, NSUN5, CCDC141, AUTS2, IRF2BP2, RTL1, IGHD4-11, TMEM97, SRPX2, AGER, AHR, SIGLEC7, HES5, NECTIN3, DNAAF3, MIR137, TPSG1, SLC24A2, BRD1, FRRS1L, PDIK1L, AIF1, LPAR3, MAPK8IP2, HDGFL3, TNNI3K, CHD7, FAM3B, SMPD3, CCDC91, RCBTB1, CC2D1A, PGPEP1, AHI1, TMEM106B, EPM2A, NANS, SETD4, GEN1, GOLGA6A, CINP, HOOK1, ZDHHC3, MCIDAS, NRN1, CD320, CRBN, TUBB2B, MIR181A2, DCX, LRP8, IFIT1, IL18, IL13, IL12A, CHAT, IL2RB, CHI3L1, IKBKB, IGFALS, IFNG, IFNA13, IFNA1, IAPP, IRS1, HTR4, HTR2C, HTR1A, HSPA4, PRMT2, AGFG1, HPRT1, HOXA1, HMOX1, HIF1A, CLCN3, IDO1, ITGAM, CLU, MDM2, RNR2, COX2, COX1, MS, MPO, CD200, MNAT1, MMP9, MMP2, CBS, MAP3K5, MAOB, ITPR1, CDH1, CAPRIN1, LIMK1, LGALS9, LGALS3, LCN2, CEACAM4, KCNQ2, KCNJ6, JAK2, ITPR3, HDAC1, HCRT, FAS, CYP1A2, FGFR1, CXADR, FES, FDPS, FCN2, FAT1, PTK2B, FABP5, FABP3, ETS2, ESR1, EPHA4, FOXO3, ENO2, EIF4E, EIF2S3, EGR1, EDNRA, EDN1, TOR1A, DAO, DUSP2, DUSP1, DRD4, FOXO1, AFF2, HCLS1, GLUL, HCFC1, HARS1, GZMH, GTF2I, KLF6, GRPR, GRP, CORT, GRIN2B, GRIA2, GPR42, GLI3, FOLR1, GJB2, GIP, MSTN, GDF2, OPN1MW, GCHFR, GCG, FYN, FUT1, CST3, CTRL, MTRR, CEACAM6, NEUROD1, BRCA1, BMI1, STAT3, SSTR4, SST, SREBF1, SOX4, SOD1, SOAT1, BMP1, BMP2, SMARCA4, BRAF, ATP5F1A, SLC2A3, BRS3, SFRP1, SETMAR, SET, SELP, CX3CL1, CCL11, CCL2, SCN8A, SCN2A, TAT, TCF3, NF1, UBC, XPNPEP1, CLIP2, WAS, TRPV1, VLDLR, AQP4, AR, VDR, VCP, UFD1, SUMO1, TXN, TCN2, ARSD, TPT1, TPM2, TNFRSF1B, ASL, TLR4, TLR2, TJP1, THY1, DRD1, TDO2, ATXN1, TSPAN31, S100A1, PAFAH1B1, CALB2, CAMK4, CAPN1, CAST, PEPD, PDE9A, PDE4D, CASP2, CASP3, PAK3, SERPINE1, CAT, RXRA, ORM1, OPRL1, OPHN1, NTRK1, NRGN, NOVA2, NOTCH1, NOS2, NOS1, NMB, CBR1, PITX2, PLAT, PLD2, PNOC, RPS27A, RPS6KB1, OPN1LW, RBM3, RARB, MOK, RAC1, BUB1B, PTPRG, ACAT1, PTGS1, PTGER3, PTGER2, PSMC1, PSEN2, C5AR1, PRNP, MAPK10, MAPK3, CAD, PRKCA, PRCP, PPARA, ATP1A3
Intraneural Perineurioma Wikipedia

Archives of Pathology & Laboratory Medicine . 131 (9): 1382–92. doi : 10.1043/1543-2165(2007)131[1382:IPASRW]2.0.CO;2 . PMID 17824794 . Further reading [ edit ] Macarenco RS, Ellinger F, Oliveira AM (2007). ... Archives of Pathology & Laboratory Medicine . 131 (4): 625–36. doi : 10.1043/1543-2165(2007)131[625:PADAUP]2.0.CO;2 . PMID 17425397 . Kum YS, Kim JK, Cho CH, Kim HK (2009).

ABL1, CLDN7, CLDN1
- Intraneural Perineurioma Orphanet
  
  Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.
Climbing Injuries Wikipedia

Guilford, Connecticut, Helena, Montana: Falcon Publishing. p. 151. ISBN 0-7627-2313-0 . ^ Wright, D. M.; Royle, T. ... The Science of Rock Climbing and Mountaineering (A collection of scientific articles). Human Kinetics Publishing. ISBN 0-7360-3106-5 . ^ a b Preston, Dayton. ... Wilderness & environmental medicine. 14 (2): 94–100. doi : 10.1580/1080-6032(2003)014[0094:piirc]2.0.co;2 . PMID 12825883 . ^ Hörst, Eric J (2008).
Pseudohypoaldosteronism, Type Iie Omim

The mean age at diagnosis or referral was 9 +/- 6 years, mean potassium was 7.5 +/- 0.9, and mean bicarbonate was 15.5 +/- 2.0. Hypertension was present in 94% of patients at or before 18 years of age. ... INHERITANCE - Autosomal dominant CARDIOVASCULAR Vascular - Hypertension METABOLIC FEATURES - Hyperchloremic metabolic acidosis (HCO3 15.5 +/- 2.0 mM) LABORATORY ABNORMALITIES - Hyperkalemia (7.5 +/- 0.9 mM) - Hyperchloremia (mean 114 mM) MISCELLANEOUS - 21 patients from 17 kindreds reported (as of February 2012) - Age at diagnosis 9 +/- 6 years - 94% develop hypertension at 18 years of age or less - Responsive to thiazide diuretics MOLECULAR BASIS - Caused by mutation in the cullin 3 gene (CUL3, 603136.0001 ) ▲ Close

KLHL3, WNK4, WNK1, NR3C2, GNAS, STX16, GNAS-AS1, SCNN1A, SCNN1B, SCNN1G, CUL3, SLC12A3, REN, PIEZO2, OSR1, PHA2A, STK24, KCNJ1, CLDN8, RAPGEF5, KLHL2, SLC12A2, STK39, SLC26A4, MUL1, PRKN, CBLL2
- Pseudohypoaldosteronism, Type Iid Omim
  
  Description Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalemia, and hyperchloremic metabolic acidosis (summary by Louis-Dit-Picard et al., 2012).
- Pseudohypoaldosteronism, Type Iib Omim
  
  A number sign (#) is used with this entry because pseudohypoaldosteronism type IIB (PHA2B) is caused by heterozygous mutation in the WNK4 gene (601844) on chromosome 17q21. For a phenotypic description and a discussion of genetic heterogeneity of pseudohypoaldosteronism type II, see PHA2A (145260). Clinical Features Farfel et al. (1978, 1978) described an Ashkenazi Jewish family in which some members had hyperkalemia (6-7 mEq/L) evident in childhood and hypertension that developed later in life. The patients had mild acidosis of the proximal renal tubular acidosis type. Chlorothiazide administration promptly corrected all features. The syndrome affected 7 members of 3 generations with instances of male-to-male transmission, thus indicating autosomal dominant inheritance.
- Pseudohypoaldosteronism Type 2 Orphanet
  
  A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR). Epidemiology The prevalence of the disorder is unknown. To date, more than 180 affected individuals and families have been reported. Clinical description Patients generally develop hypertension in adulthood. Hyperkalemia, mild hyperchloremic acidosis and low renin are present from a young age and are constant findings. Aldosterone levels may be normal to high. Hypervolemia is frequently observed.
- Pseudohypoaldosteronism, Type Iia Omim
  
  Description Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (179820) activity are variable associated findings (summary by Mansfield et al., 1997). Genetic Heterogeneity of Pseudohypoaldosteronism Type II PHA2A has been mapped to chromosome 1q31-q42. PHA2B (614491) is caused by mutations in the WNK4 gene on chromosome 17q21 (601844). PHA2C (614492) is caused by mutations in the WNK1 gene on chromosome 12p13 (605232).
- Pseudohypoaldosteronism Type Ii Gene_reviews
  
  Summary Clinical characteristics. Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described. Diagnosis/testing. The diagnosis of PHAII is established in a proband: With hyperkalemia (in the setting of normal glomerular filtration), hypertension, metabolic acidosis, hyperchloremia, and suppressed plasma renin levels; AND/OR By the identification of a heterozygous pathogenic variant in CUL3 , WNK1 , or WNK4 or a heterozygous pathogenic variant or biallelic pathogenic variants in KLHL3 . Management. Treatment of manifestations: Electrolyte and blood pressure abnormalities of PHAII in children and adults are often corrected with thiazide diuretics.
- Pseudohypoaldosteronism Type 2 Gard
  
  Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis . It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide .
Cardiomyopathy, Dilated, 1j Omim

In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss mapping to 6q23-q24, previously described by Schonberger et al. (2000), Schonberger et al. (2005) performed fine mapping that narrowed the critical interval to a 2.0-Mb region containing 8 known genes and several EST clusters. ... In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss originally described by Schonberger et al. (2000), Schonberger et al. (2005) analyzed the 3 candidate genes within a 2.0-Mb critical region of linkage that are expressed in both heart and cochlea, EYA4 (603550), SGK (602958), and TCF21 (603306), and identified a deletion in the EYA4 gene (603550.0003) that was present in all affected family members and absent from 300 control chromosomes.

EYA4, TARID
- Sensorineural Deafness With Dilated Cardiomyopathy Orphanet
  
  Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Schizophrenia 7 Omim

Only 5 chromosomes, including 13, had markers that showed a lod score greater than 2.0. Brzustowicz et al. (1999) analyzed 21 extended Canadian families with schizophrenia under autosomal dominant and recessive models with broad and narrow definitions of schizophrenia. ... The maximum 3-point lod scores were obtained under the recessive-broad model: 3.92 at theta = 0.1 with D13S793 under homogeneity and 4.42 with alpha = 0.65 and straight theta = 0 with D13S793 under heterogeneity.
Osteoblastoma Wikipedia

Histologically, osteoblastomas are similar to osteoid osteomas, producing both osteoid and primitive woven bone amidst fibrovascular connective tissue, the difference being that osteoblastoma can grow larger than 2.0 cm in diameter while osteoid osteomas cannot. ... Hagerstwon, MD: Lippincott Williams & Wilkins. p. 542. ISBN 978-0-7817-5092-9 . ^ Max Aebi ; Gunzburg, Robert; Szpalski, Marek (2007). ... Hagerstwon, MD: Lippincott Williams & Wilkins. p. 172. ISBN 978-0-7817-8867-0 . ^ Tugcu B, Gunaldi O, Gunes M, Tanriverdi O, Bilgic B (October 2008). ... External links [ edit ] Classification D ICD-O : 9200/0 MeSH : D018215 DiseasesDB : 31488 SNOMED CT : 55333008 External resources Orphanet : 58040 v t e Tumours of bone and cartilage Diaphysis Multiple myeloma Epithelia Adamantinoma Primitive neuroectodermal tumor Ewing family Ewing's sarcoma Metaphysis Osteoblast Osteoid osteoma Osteoblastoma Osteoma / osteosarcoma Chondroblast Chondroma / ecchondroma / enchondroma Enchondromatosis Extraskeletal chondroma Chondrosarcoma Mesenchymal chondrosarcoma Myxoid chondrosarcoma Osteochondroma Osteochondromatosis Chondromyxoid fibroma Fibrous Ossifying fibroma Fibrosarcoma Epiphysis Chondroblast Chondroblastoma Myeloid Giant-cell tumor of bone Other Notochord Chordoma

FOS, FOSB, APRT, RPE65, MIR135B, MIR210, PPM1E, CKAP4, TP63, UVRAG, TP53, SOX9, PCNA, RUNX2, MFAP1, SMAD2, SMAD1, IL6, FYN, CTNNB1, CHI3L1, MIR486-1
- Osteoblastoma Orphanet
  
  A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.
Early Repolarization Associated With Ventricular Fibrillation Omim

The magnitude of early repolarization was also greater in patients than in controls, with a J-point elevation of approximately 2.0 mm versus 1.2 mm, respectively (p less than 0.001). ... They suggested, however, that careful attention be paid to patients with early repolarization and J-point elevations greater than 2.0 mm, particularly in patients with otherwise unexplained arrhythmias or a family history of unexplained sudden death.

SCN5A, CACNA1C, DPP6, DSP, KCND3, KCNE1, KCNJ8
Intranodal Palisaded Myofibroblastoma Wikipedia

Arch Pathol Lab Med . 131 (2): 306–10. doi : 10.1043/1543-2165(2007)131[306:IPM]2.0.CO;2 (inactive 2021-01-10). PMID 17284119 . ... Arch Pathol Lab Med . 123 (5): 433–6. doi : 10.1043/0003-9985(1999)123<0433:RIPMWM>2.0.CO;2 (inactive 2021-01-10). PMID 10235504 .
Lrp5-Related Primary Osteoporosis Orphanet

A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility.
15q13.3 Microdeletion Gene_reviews

The 15q13.3 microdeletion is defined as the presence of a common 2.0-Mb deletion at the approximate position of 30.5-32.5 Mb in the reference genome, which includes deletion of 1.5 Mb of unique sequence as well as an additional 500 kb or more of segmental duplications. ... Establishing the Diagnosis The diagnosis of the 15q13.3 microdeletion is established by detection of the 2.0-Mb heterozygous microdeletion at chromosome 15q13.3. ... Although several genes of interest (e.g., CHRNA ) are within the 2.0-Mb deletion, no single gene has been associated with the disease findings (see Molecular Genetics for genes of interest in the deleted region). ... Genomic Testing Used in 15q13.3 Microdeletion View in own window Deletion 1 ISCA ID 2 Region Location 3, 4 Method Sensitivity Proband At-risk family members ~2.0-Mb heterozygous deletion at 15q13.3 ISCA-37411 GRCh38/hg38 chr15: 30.5-32.5 CMA 5 100% 100% FISH or MLPA Not applicable 6 100% 1. ... Although the 15q13.3 region includes other segmental duplication break points [Makoff & Flomen 2007, Shinawi et al 2009], the 15q13.3 microdeletion specifically refers to deletion of the 2.0-Mb region at the approximate position of 30.5-32.5 Mb in the reference genome (NCBI Build [hg38]).

CHRNA7, KLF13, OTUD7A
- 15q13.3 Microdeletion Medlineplus
  
  15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features. About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate.
- 15q13.3 Microdeletion Syndrome Gard
  
  15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15 . When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene.It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion.
- Chromosome 15q13.3 Deletion Syndrome Omim
  
  Pagnamenta et al. (2009) reported 3 male sibs with autism associated with an approximately 2.0-Mb deletion of chromosome 15q13.3 involving BP4-BP5 that was inherited from their unaffected mother.
- 15q13.3 Microdeletion Syndrome Orphanet
  
  15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. Epidemiology Its prevalence is unknown; nearly 150 cases have been reported, including a subset of healthy relatives of affected individuals. Males are more likely to be symptomatic. Clinical description The syndrome manifests in childhood or later in life. Patients present with developmental delay, mainly in speech acquisition, cognitive impairment in about half of the cases (usually mild, sometimes moderate to severe), idiopathic generalized epilepsy (IGE, including childhood or juvenile absence epilepsy, juvenile myoclonic epilepsy (see these terms) and epilepsies with generalized tonic-clonic seizures), neurobehavioral disorders of the autistic or psychotic spectrum (including impaired expressive language, poor eye contact, repetitive movements, hyperactivity, impulsive and/or aggressive behavior, and disturbed social interactions). Subtle dysmorphic features may be present (down-slanting palpebral fissures, prominent nasal tip, large ears, strabismus, clinodactyly of the 5th finger, pigmented naevi ).
Diabetes Mellitus, Insulin-Dependent, 8 Omim

They observed linkage for D6S446 (maximum lod = 2.8) and for D6S264 (maximum lod = 2.0) on 6q25-q27. Together with a previously reported data set, linkage could be firmly established (maximum lod score = 3.4 for D6S264), and the disease locus was designated IDDM8.

IDDM8, IGF2R
Glomus Tumor Wikipedia

St. Louis: Mosby. ISBN 1-4160-2999-0 . ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ a b International Agency for Research on Cancer (2002). ... Archives of Pathology & Laboratory Medicine . 132 (9): 1448–52. doi : 10.1043/1543-2165(2008)132[1448:GT]2.0.CO;2 . PMID 18788860 . ^ Macaluso JN, Jr; Sullivan, JW; Tomberlin, S (April 1985). ... External links [ edit ] Classification D ICD - 10 : D18 ( ILDS D18.011) ICD-O : 8711/0 OMIM : 138000 MeSH : D005918 DiseasesDB : 33480 External resources eMedicine : derm/167 synd/1584 at Who Named It?

MIR143, NF1, NOTCH1, SDHB, CRTAC1, WASF1, TP53, TLE1, SMTN, SDHD, BRAF, CDKN2A, PDGFRB, NOTCH3, NOTCH2, MYO1B, KRAS, RET
- Glomus Tumor Orphanet
  
  A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.
Colorectal Cancer, Susceptibility To, 11 Omim

Pooling data from 4 independent case-control series comprising 13,408 individuals with the GWA series yielded a combined p value of 2.0 x 10(-10) for rs961253.
Optic Atrophy 4 Omim

Mapping In a family of German descent living in western Maryland, Kivlin et al. (1983, 1984) found possible linkage of autosomal dominant optic atrophy to Kidd blood group (111000) (maximum lod score of 2.0 at theta 0.18), then thought to be on chromosome 2, but later mapped to chromosome 18q.

OPA1, DNM1L, OPA3, MFN2, MFN1, DENR, DAPK2, OMA1, FIS1, UTRN, CRMP1, SIRT3, IMMT, MFF, MED12, YME1L1, SSBP1, PRKAB1, NFE2L2, PPARGC1A, PPARG, PRKAA1, KIF1B, OPA5, PRKAA2, GSTM1, FXN, WFS1, SLC14A1, LEP, TOMM70, TOMM40, SQSTM1, YAP1, OPTN, COX5A, MRPS30, MAD2L1BP, KEAP1, PAPOLA, ACO2, TPPP, PACC1, PGAM5, CCDC50, MCU, MAP1LC3B, MUL1, PINK1, TFB2M, OPA4, SEMA6A, ADCK1, MTPAP, TREH, APTX, TMED9, ASAP1, CD274, FGF21, GABARAPL1, TUSC2, CDK5R1, PDAP1, PHB2, ASAP2, TP53BP1, BECN1, CNR2, GABPA, ERG, EPHB2, ELAVL1, DGKG, CYP1B1, CYC1, CTRL, CPOX, COX8A, CDKN1A, AKAP1, CDH1, CAV1, CAST, CAPN1, BNIP3L, BNIP3, CEACAM1, BGLAP, BCL2, AFM, GSTT1, H2AX, HRES1, HES1, VEGFA, PHLDA2, ACP3, CLDN5, SPG7, SOD1, SLC5A1, SDHA, MAPK1, PRKCA, PLXNA2, PLIN1, PKLR, REG3A, NRF1, NOS3, NFE2L1, NDUFV2, MYC, LCN2, LAMP1, OPA8
- Optic Atrophy Type 1 Gene_reviews
  
  Summary Clinical characteristics. Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only).
- Optic Atrophy 1 Gard
  
  Optic atrophy 1 , also known as optic atrophy type 1 is a disease that affects the optic nerve . The optic nerve carries signals from the eye to the brain about what is seen. People with optic atrophy type 1 have an optic nerve that has lost some tissue ( atrophy ). This atrophy causes the optic nerve not to work as well as it should, which affects the vision. Signs and symptoms of optic atrophy type 1 include vision loss , difficulty distinguishing colors, and an abnormally pale appearance (pallor) of the optic nerve.
- Dominant Optic Atrophy Gard
  
  Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy ; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'DOA plus.' DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified.
- Optic Atrophy 1 Omim
  
  A number sign (#) is used with this entry because optic atrophy-1 (OPA1) is caused by heterozygous mutation in the gene encoding the human homolog of the S. pombe dynamin-related protein Msp1 (OPA1; 605290) on chromosome 3q29. Description Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998). Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see 125250. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; 535000), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.
- Optic Atrophy 5 Omim
  
  A number sign (#) is used with this entry because of evidence that optic atrophy-5 (OPA5) is caused by heterozygous mutation in the DNM1L gene (603850) on chromosome 12p11. Description OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).
- Kjer's Optic Neuropathy Wikipedia
  
  This article includes a list of general references , but it remains largely unverified because it lacks sufficient corresponding inline citations . Please help to improve this article by introducing more precise citations. ( October 2009 ) ( Learn how and when to remove this template message ) Kjer's optic neuropathy Other names Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy; or, Kjer's autosomal dominant optic atrophy. Specialty Neurology Dominant optic atrophy , or dominant optic atrophy, Kjer's type , is an autosomally inherited disease that affects the optic nerves , causing reduced visual acuity and blindness beginning in childhood. This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. [1] Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves) aside from glaucoma , it is often misdiagnosed.
- Optic Atrophy Type 1 Medlineplus
  
  Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness. In addition to vision loss, people with optic atrophy type 1 frequently have problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.
- Autosomal Dominant Optic Atrophy, Classic Form Orphanet
  
  A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. Epidemiology The prevalence of Autosomal dominant optic atrophy (ADOA) is variable, commonly varying between 1/10,000 in Denmark (due to a founder effect) to 1/35,000 in the UK and probably worldwide. Clinical description ADOA is usually detected during the first decade of life, often by vision screening in school but later onset is possible. Visual impairment is usually moderate (visual acuity ranges from 20/80 to 20/120) but may range from mild to severe. Visual field defect is typically centrocecal, central, or paracentral.
Pachyonychia Congenita Gene_reviews

International Pachyonychia Congenita Research Registry (IPCRR) Data Summary (as of 10 May 2017) View in own window Gene in Which Pathogenic Variants Were Confirmed KRT6A KRT6B KRT6C KRT16 KRT17 TOTAL Number evaluated for finding 1 304 71 22 247 130 774 Toenails thickened 10 toenails 286 (94%) 26 (37%) 0 (00%) 99 (40%) 100 (77%) 511 (66%) 7-9 toenails 9 (03%) 14 (20%) 0 (00%) 52 (21%) 11 (08%) 86 (11%) 4-6 toenails 2 (01%) 21 (30%) 3 (14%) 63 (26%) 7 (05%) 96 (12%) 1-3 toenails 4 (01%) 9 (13%) 10 (45%) 44 (18%) 8 (06%) 75 (10%) Total w/toenails thickened 301 (99%) 70 (99%) 13 (59%) 238 (96%) 126 (97%) 748 (97%) Age at onset Birth - <1 yr 264 (88%) 10 (14%) 1 (08%) 45 (19%) 92 (73%) 412 (54%) 1-4 yrs 33 (11%) 19 (27%) 6 (46%) 78 (33%) 24 (19%) 160 (21%) 5-14 yrs 4 (01%) 34 (49%) 4 (31%) 74 (31%) 10 (08%) 126 (17%) ≥15 yrs 0 (00%) 7 (10%) 2 (15%) 43 (18%) 1 (01%) 53 (07%) Fingernails thickened 10 fingernails 271 (89%) 4 (06%) 0 (00%) 73 (30%) 62 (48%) 410 (53%) 7-9 fingernails 10 (03%) 4 (06%) 0 (00%) 11 (04%) 13 (10%) 38 (05%) 4-6 fingernails 14 (05%) 17 (24%) 0 (00%) 30 (12%) 28 (22%) 89 (11%) 1-3 fingernails 6 (02%) 7 (10%) 0 (00%) 28 (11%) 9 (07%) 50 (06%) Total w/fingernails thickened 301 (99%) 32 (45%) 0 (00%) 142 (57%) 112 (86%) 587 (76%) Age at onset Birth - <1 yr 267 (89%) 4 (13%) 0 (00%) 33 (23%) 85 (76%) 389 (66%) 1-4 yrs 30 (10%) 8 (25%) 0 (00%) 42 (30%) 19 (17%) 99 (17%) 5-14 yrs 3 (01%) 11 (34%) 0 (00%) 34 (24%) 6 (05%) 54 (09%) ≥15 yrs 1 (00%) 10 (31%) 0 (00%) 34 (24%) 3 (03%) 48 (08%) Plantar keratoderma Always (never completely goes away) 254 (84%) 67 (94%) 19 (86%) 240 (97%) 86 (66%) 666 (86%) Sometimes (feet clear up completely at times) 7 (02%) 1 (01%) 0 (00%) 1 (00%) 14 (11%) 23 (03%) Seldom (feet usually clear of symptoms) 5 (02%) 0 (00%) 0 (00%) 0 (00%) 4 (03%) 9 (01%) Total w/plantar keratoderma 266 (88%) 68 (96%) 19 (86%) 241 (98%) 104 (80%) 698 (90%) Age at onset Birth - <1 yr 39 (15%) 2 (03%) 1 (05%) 23 (10%) 12 (12%) 77 (11%) 1-4 yrs 152 (57%) 23 (34%) 9 (47%) 130 (54%) 35 (34%) 349 (50%) 5-14 yrs 70 (26%) 42 (62%) 9 (47%) 82 (34%) 43 (41%) 246 (35%) ≥15 yrs 5 (02%) 1 (01%) 0 (00%) 8 (03%) 15 (14%) 29 (04%) Plantar pain w/plantar keratoderma 2 Often require medication for pain 65 (24%) 12 (18%) 5 (26%) 74 (31%) 19 (18%) 175 (25%) Very painful, but do not use medication 114 (43%) 32 (47%) 11 (58%) 111 (46%) 34 (33%) 302 (43%) Somewhat painful 77 (29%) 24 (35%) 3 (16%) 50 (21%) 36 (35%) 190 (27%) Total w/plantar keratoderma/pain 256 (96%) 68 (100%) 19 (100%) 235 (98%) 89 (86%) 667 (96%) Palmar keratoderma Always (never completely goes away) 86 (28%) 11 (15%) 2 (09%) 148 (60%) 21 (16%) 268 (35%) Sometimes (hands clear up completely at times) 32 (11%) 7 (10%) 1 (05%) 15 (06%) 22 (17%) 77 (10%) Seldom (hands usually clear of symptoms) 49 (16%) 13 (18%) 3 (14%) 22 (09%) 27 (21%) 114 (15%) Total w/palmar keratoderma 167 (55%) 31 (44%) 6 (27%) 185 (75%) 70 (54%) 459 (59%) Additional findings Oral leukokeratosis 269 (88%) 18 (25%) 4 (18%) 88 (36%) 34 (26%) 413 (53%) Cysts 188 (62%) 49 (69%) 4 (18%) 64 (26%) 121 (93%) 426 (55%) Follicular hyperkeratosis 162 (53%) 30 (42%) 0 (00%) 30 (12%) 86 (66%) 308 (40%) Natal or prenatal teeth 12 (04%) 0 (00%) 0 (00%) 0 (00%) 99 (76%) 111 (14%) 1.

KRT17, KRT16, KRT6A, KRT6B, KRT10, KRT6C, KRT80, SLURP1, PNOC, NFE2L2, AQP5, FLG, KRT1, KLKB1, GJB2, GABPA, MTOR, KRT9
- Pachyonychia Congenita 4 Omim
  
  A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
- Pachyonychia Congenita Orphanet
  
  Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth.
- Pachyonychia Congenita Gard
  
  Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
- Pachyonychia Congenita, Autosomal Recessive Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
- Pachyonychia Congenita 3 Omim
  
  A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
- Pachyonychia Congenita 2 Omim
  
  A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
- Pachyonychia Congenita 1 Omim
  
  A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis.
Alzheimer Disease 16 Omim

Odds ratios were 1.75 for female homozygotes (p = 2.0 x 10(-7)) and 1.26 for female heterozygotes (p = 0.01) compared to female noncarriers.