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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.
Epithelioma Wikipedia

. ^ "Deaths in the district of Inveresk and Musselburgh in the County of Edinburgh" . Statutory Deaths 689/00 0032 . ScotlandsPeople . Retrieved 11 April 2015 . External links [ edit ] Classification D ICD-O : 8011/0, 8011/3 Wikimedia Commons has media related to Epithelioma .

AS3MT, LATS1, HPGD, SCD, ERBB2, MUC1, EGFR, TP53, CTNNB1, CD274, VEGFA, CDKN2A, FHIT, CD44, EPCAM, BCL2, NCOA3, ANIB1, HEATR6, VIM, PTK6, KIT, FAP, IGF1, CD82, NTRK1, PIK3CG, EGF, KRAS, PIK3CD, GLI1, RASSF1, PIK3CB, MMP2, PIK3CA, SRA1, GTF2I, H3P10, MIR21, MIR200C, NPC1, MTA1, LINC01194, FSHR, FSCN1, CLU, BRAF, HGF, ABCB1, FOXL2, PDLIM7, PCNA, SMUG1, NOTCH1, FGF2, BAX, TBC1D9, CXCL8, MYB, ITGAE, JAG2, MICA, TNF, KRT19, LGALS1, TRBV20OR9-2, MMP14, MMP9, PPARG, FST, FASN, EZH2, PTGS2, VHL, ODAM, EPHB4, FOXN1, ESR1, MUC16, CRP, PROM1, CLDN3, RUNX3, NUTM1, SGK1, WT1, TSC1, VTN, NR0B2, BCL2L10, CXCR4, SLC7A5, TMPRSS2, BCL2L11, TIMP2, TRIM13, PAX8, ZNF154, TIMP1, TSC2, UVRAG, NR1I3, FEZ1, UMPS, NEURL1, TYMS, TTR, CFLAR, RIPK1, CDK2AP2, TP63, KLF4, COX5A, EI24, TTN, CXCL14, KLK4, TTF1, LMO4, HSPB3, XPO1, CASP14, SEMA3C, DIAPH3, TXLNA, IMMP1L, ARX, IRX2, MLIP, MARVELD1, HM13, FBXW7, SLC44A4, PHC3, LIN28A, C19orf33, LGR6, OVOL2, MUC20, PGP, LYPD5, MIR141, MIR143, MIR145, MIR148A, MIR214, MIR485, CXADRP1, TEC, KLRC4-KLRK1, ERVK-20, ERVK-18, AK6, ERVK-32, H3P8, SLC12A9, TRIM62, UBD, CYFIP1, CLIC4, FBXO7, TRIM29, TGFB2, SATB2, FBXW11, KLRK1, ERCC6L, RPP14, CKAP4, SUB1, FASTK, IGF2BP1, PDPN, NOC2L, NOX1, IL17C, LAMTOR2, HIPK2, ERVW-1, FOXP3, APH1A, EGFL7, LEF1, HSD17B7, SF3B6, ACSL5, WWOX, RTEL1, WNT4, KRT20, THM, ACTB, TFPI, FGF7, CTSV, CXADR, CYP19A1, DAXX, DPYD, DSG2, EIF2S1, ELF3, ELF4, EN1, EWSR1, F2R, F3, FBLN1, FGFR2, CSF1, FN1, FOLH1, FRA16D, GPC3, HAS1, HHEX, HIF1A, HIP1, HLA-G, HMGB1, HMGA1, HNF4A, HOXA7, HRAS, CSF1R, CPOX, TFE3, CA9, AKT1, ALCAM, ALOX5, ANXA2, BIRC2, BIRC3, FAS, AR, ARR3, BGLAP, CEACAM1, BRCA1, BRCA2, TSPO, CASP8, COX8A, CASR, CAT, CAV1, RUNX1, MS4A1, CD40, CD68, CD70, CD74, CDC42, CDH1, CDKN1A, CDKN2B, CEACAM5, ERAS, HSF1, HSPB1, CXCL11, MAP2K1, PTCH1, PTEN, PTK2, PTPN6, PTPRJ, PXN, AFP, RAP2B, RARB, RPE65, S100A1, S100A9, S100B, SDC1, HSPB2, SFPQ, SFRP5, SLC22A1, SNAI2, SNAI1, SOX2, SPG7, SPP1, SRC, ST14, ADAM17, TBX5, ZEB1, TERT, MAPK7, PRKAR1A, POU2F1, PLK1, IFNA1, IFNA13, IGF1R, IGFBP7, IL2, IL4, IL6, IPP, KRT17, LAG3, LEP, MDK, MEIS1, MET, KITLG, MGMT, MST1R, MUC4, MYC, NEU1, NFIB, NOTCH3, ROR1, ODC1, OVOL1, PAX1, PDGFA, PDGFRB, PLAU, RAG1
Staphylococcal Scalded Skin Syndrome Wikipedia

The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ Weisse, Martin E (31 December 2000). ... The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Powell, KR (January 1979). ... The Journal of Pediatrics . 78 (6): 958–67. doi : 10.1016/S0022-3476(71)80425-0 . PMID 4252715 . ^ Morens, David M; Katz, Alan R; Melish, Marian E (31 May 2001). ... The Lancet . 357 (9273): 2059. doi : 10.1016/S0140-6736(00)05151-5 . PMID 11441870 . S2CID 35925579 .

DSG1, EDNRB, EDNRA, EXT1, SPINK5, SETBP1, DSG4
- Staphylococcal Scalded Skin Syndrome Orphanet
  
  A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.
Dukes' Disease Wikipedia

The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ a b c d Weisse, ME (31 December 2000). ... The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Dukes-Filatov disease at Who Named It?
Lisch Epithelial Corneal Dystrophy Wikipedia

Ophthalmol. 114 (1): 35–44. doi : 10.1016/S0002-9394(14)77410-0 . PMID 1621784 . ^ Lisch W, Büttner A, Oeffner F, Böddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K (October 2000). ... Ophthalmol. 130 (4): 461–8. doi : 10.1016/S0002-9394(00)00494-3 . PMID 11024418 . External links [ edit ] Classification D ICD - 10 : H18.5 OMIM : 300778 MeSH : C567588 C567588, C567588 External resources Orphanet : 98955 v t e Types of corneal dystrophy Epithelial and subepithelial Epithelial basement membrane dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal dystrophy Meesmann corneal dystrophy Subepithelial mucinous corneal dystrophy Bowman's membrane Reis–Bucklers corneal dystrophy Thiel-Behnke dystrophy Stroma Congenital stromal corneal dystrophy Fleck corneal dystrophy Granular corneal dystrophy Lattice corneal dystrophy Macular corneal dystrophy Posterior amorphous corneal dystrophy Schnyder crystalline corneal dystrophy Descemet's membrane and endothelial Congenital hereditary endothelial dystrophy Fuchs' dystrophy Posterior polymorphous corneal dystrophy X-linked endothelial corneal dystrophy This article about an ophthalmic disease is a stub .
- Corneal Dystrophy, Lisch Epithelial Omim
  
  Clinical Features Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed that the opacities consisted of intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in 3 patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before.
- Lisch Epithelial Corneal Dystrophy Orphanet
  
  Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Epidemiology Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. LECD has been documented in one German family and in rare sporadic cases in Germany and the USA. Clinical description Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. Etiology The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).
Medication Phobia Wikipedia

Clin Dermatol . 19 (1): 69–71. doi : 10.1016/S0738-081X(00)00215-7 . PMID 11369491 . ^ "Drugs that call for extra caution. ... New York: Simon Schuster. p. 56. ISBN 978-0-684-87309-1 . ^ M.d. Kamath, Bob (30 May 2007). ... Kendall Hunt Publishing. p. 25. ISBN 978-0-7872-8701-6 . ^ Ashton CH (2002).
Cervical Polyp Wikipedia

Lippincott Williams & Wilkins. pp. 254–256. ISBN 0-7817-3905-5 . ^ a b c d e f g h i Smith, Melanie N. (2006-05-10). ... Cambridge University Press . p. 77. ISBN 1-900151-51-0 . ^ Papadakis, Maxine A.; Stephen J. ... McGraw-Hill Professional. p. 60. ISBN 0-07-145892-1 . ^ a b Bosze, Peter; David M. ... Informa Health Care. p. 66. ISBN 963-00-7356-0 . ^ "Cervical Polyps" (PDF) .

BMI1, CDKN2A, COMMD3-BMI1
Doege–potter Syndrome Wikipedia

Surg . 119 (1): 185–7. doi : 10.1016/S0022-5223(00)70242-X . PMID 10612786 . Archived from the original on 2013-01-12. ^ a b Shields, TW; LoCicero J; Ponn RB; Rusch VW (2005). ... Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 893 . ISBN 0-7817-3889-X . ^ Ellorhaoui M, Graf B (February 1976). ... Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 172–3 . ISBN 978-0-7817-6957-0 . v t e Paraneoplastic syndromes Endocrine Hypercalcaemia SIADH Zollinger–Ellison syndrome Cushing's syndrome Hematological Multicentric reticulohistiocytosis Nonbacterial thrombotic endocarditis Neurological Paraneoplastic cerebellar degeneration Encephalomyelitis Limbic encephalitis Opsoclonus Polymyositis Transverse myelitis Lambert–Eaton myasthenic syndrome Anti-NMDA receptor encephalitis Musculoskeletal Dermatomyositis Hypertrophic osteopathy Mucocutaneous reactive erythema Erythema gyratum repens Necrolytic migratory erythema papulosquamous Acanthosis nigricans Ichthyosis acquisita Acrokeratosis paraneoplastica of Bazex Extramammary Paget's disease Florid cutaneous papillomatosis Leser-Trélat sign Pityriasis rotunda Tripe palms Other Febrile neutrophilic dermatosis Pyoderma gangrenosum Paraneoplastic pemphigus v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B
Hydroa Vacciniforme Wikipedia

Feb, 42(2 Pt 1) (2): 208–13. doi : 10.1016/s0190-9622(00)90127-0 . PMID 10642674 . ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ Rezk SA, Zhao X, Weiss LM (September 2018).

CD4, CCR4, GATA2, PLK2
- Hydroa Vacciniforme Orphanet
  
  A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.
Kasabach–merritt Syndrome Wikipedia

Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 597. ISBN 978-0-7216-2921-6 . ^ a b c d e Hall G (2001). ... J Pediatr Surg . 23 (2): 109–11. doi : 10.1016/S0022-3468(88)80135-0 . PMID 3278084 . ^ a b c d Kasabach-Merritt Syndrome at eMedicine ^ Larsen, EC; Zinkham, WH; Eggleston, JC; Zitelli, BJ (June 1987). ... J Am Acad Dermatol . 42 (2 Pt 1): 225–35. doi : 10.1016/S0190-9622(00)90130-0 . PMID 10642677 . External links [ edit ] Classification D ICD - 10 : D69.5 ( ILDS D69.507) ICD - 9-CM : 287.39 OMIM : 141000 MeSH : D059885 DiseasesDB : 30701 SNOMED CT : 86635005 External resources eMedicine : med/1221 ped/1234 Orphanet : 2330

ANGPT1, ANGPT2, THBD, VEGFA, VEGFC, GNA14
- Hemangioma-Thrombocytopenia Syndrome Omim
  
  With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered. Propp and Scharfman (1966) reported a male infant with thrombocytopenia associated with a large hemangioma of the right arm and axilla. The patient had low platelet counts with a markedly diminished platelet survival time and an absence of platelet agglutinin or complement-fixing antibody. Radiochromate-tagged platelet studies suggested sequestration in the hemangioma, liver, and spleen.
- Hemangioma Thrombocytopenia Syndrome Gard
  
  Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas . The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.
- Kasabach-Merritt Syndrome Orphanet
  
  Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.
Botellón Wikipedia

Characteristics [ edit ] Botellón usually begins around 11:00 p.m. and ends around 3:00 a.m. when many people move to a bar or club. ... Since botellón is usually a nighttime activity, Spain passed a law that prohibits stores to sell alcohol to the public after 10:00 p.m, hoping to persuade people to attend clubs or bars where alcohol must remain on site. [ citation needed ] However, the measure is a controversial one because people can still buy alcohol before the selling limit hour and consume it in public. ... CS1 maint: archived copy as title ( link ) ^ "Media España se cita en la Red para celebrar un macrobotellón el 17 de marzo" . 2006-03-07. ^ http://www.20minutos.es/noticia/97295/0/macrobotellones/ciudades/espana/ | Literally translated from Spanish ^ "El Ayuntamiento "no consentirá" el macrobotellón que se prepara en Moncloa" . 2006-03-07.
Guttate Psoriasis Wikipedia

Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Pardasani AG, Feldman SR, Clark AR (February 2000). ... Journal of the American Academy of Dermatology . 42 (5 Pt 2): 885–7. doi : 10.1016/s0190-9622(00)90263-9 . PMID 10767696 . ^ Mehlis S (2019).

HLA-C, IL17A, APOE, HLA-DOA, IFNG, IL4, IL9, RXRB, XPR1, NOD2
- Guttate Psoriasis Gard
  
  Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis . The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
Jet Lag Wikipedia

Waterhouse et al. [3] recommend: Time zones Local time to avoid light at destination Local time to seek light at destination East 6h 03:00–09:00 11:00–17:00 East 7h 04:00–10:00 12:00–18:00 East 8h 05:00–11:00 13:00–19:00 East 9h 06:00–12:00 14:00–20:00 Travelling east by 10 hours or more is usually best managed by assuming it is a 14-hour westward transition and delaying the body clock. [3] A customised jet lag program can be obtained from an online jet lag calculator.

CLOCK, ARNTL, PER2, SREBF1, DELEC1, XPR1, PER3, BHLHE40, SCD, AVP, ATXN2, PER1, NOS2, COX1, HIF1A, CRY1, TRARG1
Primary And Secondary Brain Injury Wikipedia

Hagerstown, MD: Lippincott Williams & Wilkins. p. 1150. ISBN 0-7817-2655-7 . Retrieved 2008-06-16 . ^ a b c d e f Scalea TM (2005). ... Boca Raton: CRC. pp. 26–32. ISBN 978-0-8493-8138-6 . Retrieved 2008-07-06 . ^ a b Porth, Carol (2007). ... Hagerstown, MD: Lippincott Williams & Wilkins. p. 838. ISBN 978-0-7817-7087-3 . Retrieved 2008-07-03 . ^ Pitkänen A, McIntosh TK (2006). ... Neurotrauma: New Insights Into Pathology and Treatment . Elsevier. pp. 13–19. ISBN 978-0-444-53017-2 . Retrieved 2008-06-10 . ^ a b Granacher RP (2007). ... Neuroscience . 101 (2): 289–95. doi : 10.1016/S0306-4522(00)00380-8 . PMID 11074152 . S2CID 20457228 . ^ Sauaia A, Moore FA, Moore EE, et al.
Holoprosencephaly Wikipedia

Current Opinion in Genetics & Development . 10 (3): 262–9. doi : 10.1016/s0959-437x(00)00084-8 . PMID 10826992 . ^ Rash BG, Grove EA (October 2007). ... Archived from the original on 2009-05-14. ^ Armand Marie Leroi , Mutants : On the Form, Varieties and Errors of the Human Body , 2003, Harper Perennial, London. ISBN 0-00-653164-4 ^ The Carter Center for Research in holoprosencephaly [1] and [2] Archived 2008-11-21 at the Wayback Machine ^ Hong M, Srivastava K, Kim S, Allen BL, Leahy DJ, Hu P, Roessler E, Krauss RS, Muenke M (2017) BOC is a modifier gene in holoprosencephaly. ... Human Genetics . 125 (1): 95–103. doi : 10.1007/s00439-008-0599-0 . PMC 2692056 . PMID 19057928 . ^ Tekendo-Ngongang C, Muenke M, Kruszka P (1993).

SHH, SIX3, TGIF1, GLI2, NODAL, ZIC2, CDON, PTCH1, FGF8, DISP1, GAS1, FOXH1, TDGF1, TWSG1, HPE1, PPP1R12A, PSTPIP1, PGAP1, PIGN, DHCR7, GLI3, FGFR1, DLL1, GMPPB, BUB1B, PROP1, SOX2, ARID1A, POMGNT1, BUB3, POMT2, LARGE1, MATN4, SUFU, RB1, CHD7, BUB1, POU1F1, TRIP13, B3GALNT2, CILK1, WDR81, C2CD3, GPKOW, FKTN, FGFR3, LHX4, POMT1, HOXA2, IL10, L1CAM, HUWE1, SEMA3E, OTX2, CEP57, FKRP, PRRX1, HESX1, HTC2, HPE8, NOG, TGIF2, SOD1, STIL, LRP2, MNX1, CNOT1, EAPP, FBXW11, CPLANE1, TCTN1, CAMKMT, ZIC5, UCN2, TCTN3, BOC, OSCP1, RALGAPA1, NR4A3, DKK1, WIF1, CALM1, CALM2, CALM3, CAT, KRIT1, CYP2E1, EYA4, FOXG1, GSK3B, FOXA2, LSS, SMAD2, PAX2, PLTP, POMC, RAC3, RFX4, SIM2, TWIST1, ZIC1, MOGS, KMT2D, SMC1A, CHRD, KATNB1, STAG2, SEPTIN9, SBE2
- Chromosome 1q41-Q42 Deletion Syndrome Omim
  
  A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. A form of holoprosencephaly (HPE10) has been mapped within the deleted region of chromosome 1q41-q42. For a general phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). See also congenital diaphragmatic hernia (DIH; 142340), which has been associated with deletion of chromosome 1q41-q42. See also Skraban-Deardorff syndrome (SKDEAS; 617616), caused by mutation in the WDR26 gene (617424) on chromosome 1q42, which shows overlapping features with chromosome 1q41-q42 deletion syndrome.
- Holoprosencephaly 4 Omim
  
  A number sign (#) is used with this entry because of evidence that holoprosencephaly-4 (HPE4) is caused by heterozygous mutation in the TGIF gene (602630) on chromosome 18p11. For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly, see HPE1 (236100). Cytogenetics Johnson and Bachman (1976) described a normal female who appeared to have a nonreciprocal translocation from the short arm of one chromosome 18 to the long arm of a chromosome 12. She gave birth to a cebocephalic child whose karyotype included an 18p- chromosome. The association of loss of 18p with holoprosencephaly was suggested by the patient reported by Munke et al. (1988); cytogenetic and molecular studies indicated a Y/18 translocation with loss of 18p and distal Yq material in a holoprosencephalic fetus.
- Holoprosencephaly 11 Omim
  
  A number sign (#) is used with this entry because holoprosencephaly-11 (HPE11) is caused by heterozygous mutation in the CDON gene (608707) on chromosome 11q24. For a general phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). Clinical Features Bae et al. (2011) reported 4 unrelated patients with HPE11. One patient had agenesis of the corpus callosum, hypotelorism, growth hormone deficiency, global developmental delay, and thick eyebrows with synophrys. Another had agenesis of the corpus callosum, alobar HPE, hypotelorism, cleft lip/palate, and absent columella; absent pituitary and polysplenia were noted in this patient at autopsy.
- Holoprosencephaly 8 Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). Clinical Features Levin and Surana (1991) described holoprosencephaly in association with an interstitial deletion of chromosome 14q11.1-q13. Parental karyotypes were normal. The white female, born to nonconsanguineous young parents after an uncomplicated pregnancy, showed hypotelorism, lack of nasal bridge, flattened nasal tip with no visible septum, wide midline cleft of lip and hard palate, and ptosis of the left upper eyelid. Axial CT scan of the head was interpreted as showing semilobar holoprosencephaly. The infant died at 8 days of age. Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q: 1 had alobar HPE and 5 had lobar HPE.
- Holoprosencephaly 6 Omim
  
  For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly (HPE), see HPE1 (236100). Clinical Features Lehman et al. (2001) described a female infant who survived for 5.5 hours after delivery at 33 weeks' gestation. Autopsy showed a lobar variant of holoprosencephaly. Cytogenetics By cytogenetic analysis in an infant with a lobar variant of holoprosencephaly, Lehman et al. (2001) identified a 2q37.1-q37.3 deletion. This case represented the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparently isolated 2q37 deletion. Lehman et al. (2001) suggested that the deleted segment may contain yet another locus, here designated HPE6, which, when disrupted, can lead to brain malformations within the HPE spectrum.
- Nonsyndromic Holoprosencephaly Medlineplus
  
  Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.
- Holoprosencephaly Gard
  
  Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye.
- Holoprosencephaly 3 Omim
  
  A number sign (#) is used with this entry because of evidence that holoprosencephaly-3 (HPE3) is caused by heterozygous mutation in the SHH gene (600725), which encodes the human Sonic hedgehog homolog, on chromosome 7q36. For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). Clinical Features Berry et al. (1984) and Johnson (1989) provided information on a family (family 2 in Johnson, 1989) in which holoprosencephaly occurred in 2 sibs and their first cousin, who were offspring of parents with a single central maxillary incisor. Johnson (1989) reported a second patient (family 1) with full-blown holoprosencephaly whose mother and sister had only a single central maxillary incisor. Johnson (1989) suggested that holoprosencephaly is a developmental field defect of which the mild forms can be single median incisor, hypotelorism, bifid uvula, or pituitary deficiency.
- Holoprosencephaly 7 Omim
  
  A number sign (#) is used with this entry because of evidence that holoprosencephaly-7 (HPE7) is caused by heterozygous mutation in the PTCH1 gene (601309) on chromosome 9q22. For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly, see HPE1 (236100). Description Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).
- Solitary Median Maxillary Central Incisor Omim
  
  A number sign (#) is used with this entry because of evidence that solitary median maxillary central incisor (SMMCI) and SMMCI syndrome are caused by heterozygous mutation in the Sonic hedgehog gene (SHH; 600725) on chromosome 7q36. Clinical Features Rappaport et al. (1976, 1977) reported 7 unrelated patients with single (unpaired) deciduous and permanent maxillary central incisors and short stature. Five of them had isolated growth hormone deficiency. The other 2 had normal growth hormone responses but were short of stature. No similar or possibly related abnormalities were present in the 7 families. Rappaport et al. (1976) used the term monosuperoincisivodontic dwarfism to describe the association of short stature and solitary incisor.
- Holoprosencephaly 1 Omim
  
  Description Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent.
- Holoprosencephaly Orphanet
  
  A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity. Epidemiology Prevalence is estimated to be 1/10,000 live and still births and 1/250 conceptuses, with worldwide distribution. Clinical description Three classical forms of holoprosencephaly (HPE) of increasing severity are described based on the degree of anatomical separation: lobar, semi-lobar and alobar HPE. Milder subtypes include midline interhemispheric variant and septopreoptic HPE. There is, however, a continuous spectrum of abnormal separation of the hemispheres that extends from aprosencephaly/atelencephaly, the most severe end of the spectrum, to microform HPE, a less severe midline defect without the typical HPE brain characteristics.
Mad Gasser Of Mattoon Wikipedia

Kearney, of Marshall Avenue, Mattoon, reported smelling a strong, sweet odor around 11:00 pm. At first she dismissed the smell, believing it to be from flowers outside of the window, but the odor soon became stronger and she began to lose feeling in her legs. ... 347 Strange Sightings, Incredible Occurrences, and Puzzling Physical Phenomena . Detroit: Visible Ink Press. ISBN 0-8103-9436-7 . ^ a b "At Night in Mattoon" . ... Borderlands: The ultimate exploration of the unknown . Overlook. ISBN 0-87951-724-7 . ^ Janet, Pierre (1965). ... Detroit: Visible Ink Press. pp. 239 . ISBN 0-8103-9436-7 . ^ Do Go On. "146 - The Mad Gasser of Mattoon" . ... Jacksonville, Ill.: Swamp Gas Book Co. ISBN 978-0-9728605-0-5 . Van Huss, William B. (2017) The Mad Gasser of Botetourt County ISBN 978-1979589246 External links [ edit ] "The Mad Gasser of Mattoon: how the press created an imaginary chemical weapons attack" from Skeptical Inquirer , 7/1/2002 Site with newspaper headlines and a list of victims and locations of incidents
X-Linked Recessive Chondrodysplasia Punctata Wikipedia

Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Malou, E.; Gekas, J.; Troucelier-Lucas, V.; Mornet, E.; Razafimanantsoa, L.; Cuvelier, B.; Mathieu, M.; Thépot, F. (2001-02-01). ... Archives de Pédiatrie . 8 (2): 176–180. doi : 10.1016/S0929-693X(00)00181-0 . ISSN 0929-693X . PMID 11232459 . ^ Casarin, Alberto; Rusalen, Francesca; Doimo, Mara; Trevisson, Eva; Carraro, Silvia; Clementi, Maurizio; Tenconi, Romano; Baraldi, Eugenio; Salviati, Leonardo (2009-11-01).
Grapheme–color Synesthesia Wikipedia

Trends in Cognitive Sciences . 5 (1): 36–41. doi : 10.1016/S1364-6613(00)01571-0 . PMID 11164734 . S2CID 15092606 . ^ a b Jäncke, Lutz; Beeli, Gian; Eulig, Cornelia; Hänggi, Jürgen (March 2009). ... Sagiv, ed., Synesthesia: Perspectives from Cognitive Neuroscience , Oxford: Oxford University Press , ISBN 0-19-516623-X , pp. 11–33 ^ a b Simner, J.; Ward, J.; Lanz, M.; Jansari, A.; Noonan, K.; Glover, L.; Oakley, D.A. (2005). ... Handbook of Multisensory Processes. Cambridge, MA: MIT Press. ISBN 0-262-03321-6 ^ Steen, Carol. "Quote from Carol Steen Artist and founding member of the American Synesthesia Association in an interview at the Massachusetts Institute of Technology" . ... Ninth IEEE International Symposium on Wearable Computers . pp. 108–113. doi : 10.1109/ISWC.2005.11 . ISBN 0-7695-2419-2 . S2CID 8221450 . Archived from the original (PDF) on 2007-03-29.
Axenfeld–rieger Syndrome Wikipedia

Kanski's clinical ophthalmology : a systematic approach (9th ed.). Edinburgh: Elsevier. ISBN 978-0-7020-7713-5 . OCLC 1131846767 . ^ a b c Lowry, R. ... Medical Intelligence Unit. Springer. doi : 10.1007/0-387-28672-1 . ISBN 978-0-387-28672-3 . ... American Journal of Ophthalmology . 130 (1): 107–15. doi : 10.1016/S0002-9394(00)00525-0 . PMID 11004268 . External links [ edit ] Classification D ICD - 9-CM : 743.44 MeSH : C535679 DiseasesDB : 30800 Axenfeld Rieger syndrome at NIH 's Office of Rare Diseases Axenfeld Rieger anomaly with cardiac defects and sensorineural hearing loss at NIH 's Office of Rare Diseases v t e Congenital malformations and deformations of eyes Adnexa Eyelid Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia ( Cystic eyeball , Cryptophthalmos ) Microphthalmia Lens Ectopia lentis Aphakia Iris Aniridia Anterior segment Axenfeld–Rieger syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma ( Coloboma of optic nerve ) Hydrophthalmos Norrie disease v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )

PITX2, FOXC1, COL4A1, PIK3R1, FGFRL1, CPLX1, NSD2, WHCR, PTCH1, ADAMTSL1, LETM1, IGF1R, CTBP1, EGF, PAX6, PAX2, PLOD1, RIEG2, TGFA, DLX2, BARX2, CYP1B1, COL1A1
- Axenfeld-Rieger Syndrome, Type 3 Omim
  
  ., 1998), and obtained a maximum lod score of 3.1 (theta = 0) at marker D6S344 on chromosome 6p25.
- Axenfeld-Rieger Syndrome, Type 1 Omim
  
  A number sign (#) is used with this entry because of evidence that Axenfeld-Rieger syndrome type 1 (RIEG1) is caused by heterozygous mutation in the homeobox transcription factor gene PITX2 (601542) on chromosome 4q25. Description Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger Syndrome Linkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; 601499). A third form of Axenfeld-Rieger syndrome (RIEG3; 602482) is caused by mutation in the FOXC1 gene (601090) on chromosome 6p25.
- Axenfeld-Rieger Syndrome Orphanet
  
  Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. Epidemiology The syndrome has an estimated prevalence of 1/200,000. Clinical description The clinical manifestations of ARS are highly variable. Features can be divided into ocular and non-ocular findings. Ocular abnormalities mainly affect the iris: hypoplasia, corectopia or hole formation in the iris mimicking polycoria; cornea: prominent and anteriorly displaced Schwalbe's line (posterior embryotoxon); and the chamber angle: iris strands bridging the iridocorneal angle to the trabecular meshwork. Eye dysgenesis in ARS may cause increased ocular pressure (IOP) leading to glaucoma.
- Axenfeld-Rieger Syndrome Gard
  
  Axenfeld-Rieger syndrome is a group of disorders that mainly affects the development of the eye. Common eye symptoms include cornea defects and iris defects. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, a condition that increases pressure inside of the eye, and may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome can affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia).
- Axenfeld-Rieger Syndrome, Type 2 Omim
  
  Description Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated. For a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 (180500). Mapping Deletion of 13q14 was described in 2 cases of Rieger syndrome (Akazawa et al., 1981; Stathacopoulos et al., 1987). Phillips et al. (1996) performed linkage analysis of a large 4-generation family and demonstrated that Rieger syndrome was not linked to 4q25 but to markers on 13q14.
Hyperimmunoglobulin E Syndrome Wikipedia

The Journal of Pediatrics . 136 (2): 176–80. doi : 10.1016/S0022-3476(00)70098-9 . PMID 10657822 . ^ a b c Rael EL, Marshall RT, McClain JJ (July 2012). ... The Journal of Allergy and Clinical Immunology . 95 (3): 771–4. doi : 10.1016/S0091-6749(95)70185-0 . PMID 7897163 . ^ Davis SD, Schaller J, Wedgwood RJ (May 1966). ... National Institutes of Health (NIH): Clinical Research Studies : National Institute of Allergy and Infectious Diseases (NIAID) (observational) study number 00-I-0159: Natural History, Management, and Genetics of the hyperimmunoglobulin E Recurrent Infection syndrome (HIES) - NCT00006150 External links [ edit ] Classification D ICD - 10 : D82.4 ICD - 9-CM : 288.1 OMIM : 243700 147060 MeSH : D007589 DiseasesDB : 29572 External resources MedlinePlus : 001311 eMedicine : derm/845 ped/1074 v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )

DOCK8, STAT3, IFNG, TYK2
- Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive Omim
  
  A number sign (#) is used with this entry because autosomal recessive hyper-IgE recurrent infection syndrome-2 (HIES2) is caused by homozygous or compound heterozygous mutation in the DOCK8 gene (611432) on chromosome 9p24. Description Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060.
- Dock8 Immunodeficiency Syndrome Medlineplus
  
  DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema , food or environmental allergies, and asthma. DOCK8 immunodeficiency syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels can be more than 10 times higher than normal for no known reason.
- Autosomal Recessive Hyper Ige Syndrome Gard
  
  Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE) , recurrent staphylococcal skin abscesses , and recurrent pneumonia . The same features are also seen in the more frequent autosomal dominant HIES syndrome . AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum ; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES.
- Combined Immunodeficiency Due To Dock8 Deficiency Orphanet
  
  Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Epidemiology Prevalence is unknown. To date, 11 patients in eight families have been reported. Clinical description Patients present in childhood with symptoms including atopic dermatitis, severe food and environmental allergies, asthma, recurrent upper and lower respiratory tract infections including otitis media, recurrent sinusitis, bronchitis and pneumonia, and extensive cutaneous viral and bacterial infections including superficial, often ulcerating herpes simplex virus infections, flat and verrucous warts, molluscom contagiosum infections, S. aureus skin infections or abscesses, mucosal or nail candidiasis and otitis externa. Patients with long-term herpes simplex virus infections, human papillomavirus infections or molluscom contagiosum have developed vulvar, facial and anal squamous cell dysplasia and carcinoma. The neurologic, vasculitic and autoimmune symptoms associated with autosomal dominant hyper IgE syndrome due to mutations in STAT3 (see this term), are not observed.
- Dock8 Deficiency Wikipedia
  
  DOCK8 deficiency Other names Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, CID due to DOCK8 deficiency DOCKS deficiency is autosomal recessive DOCK8 deficiency , also called DOCK8 immunodeficiency syndrome , is the autosomal recessive form of hyperimmunoglobulin E syndrome , a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia , and recurrent infections with staphylococcus and viruses. It is caused by a mutation in the DOCK8 gene . Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] The signs and symptoms of DOCK8 deficiency are similar to the autosomal dominant form, STAT3 deficiency. However, in DOCK8 deficiency, there is no skeletal or connective tissue involvement, and affected individuals do not have the characteristic facial features of those with autosomal dominant hyper-IgE syndrome. DOCK8 deficient children often have eczema , respiratory and skin staphylococcus infections. [1] [2] Beyond these, many other recurrent infections have been observed, including recurrent fungal infections and recurrent viral infections (including molluscum contagiosum , herpes simplex , and herpes zoster ), recurrent upper respiratory infection (including Streptococcus pneumoniae , Haemophilus influenzae , respiratory syncytial virus , and adenovirus ), recurrent sinusitis , recurrent otitis media , mastoiditis , pneumonia , bronchitis with bronchiectasis , osteomyelitis , candidiasis , meningitis (caused by cryptococcus or H. influenzae), pericarditis , salmonella enteritis , and giardiasis . Other dermatologic problems include squamous-cell carcinoma /dysplasia (vulvar, anal, and facial).