Index of Diseases for Professionals

Disease type/subtype Group OMIM Inheritance Causative gene
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) Ectodermal dysplasia 103285 Autosomal dominant TP63
Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome) Ectodermal dysplasia 106260 Autosomal dominant TP63
Annular Epidermolytic Ichthyosis Keratinization disorder 607602 Autosomal dominant KRT1, KRT10
 
Disease type/subtype Group OMIM Inheritance Causative gene
Cartilage-hair hypoplasia syndrome Ectodermal dysplasia 250250 Autosomal recessive RMPR
Chanarin-Dorfman syndrome Keratinization disorder 275630 Autosomal recessive CGI58
CHILD syndrome Keratinization disorder 308050 X-linked dominant NSDHL
Clouston syndrome Ectodermal dysplasia 129500 Autosomal dominant GJB6
Cockayne syndrome DNA-repair disorder 133540, 216400, 214150 Autosomal recessive CSA, CSB
Congenital hypotrichosis with juvenile macular dystrophy Ectodermal dysplasia 601553 Autosomal recessive CDH3
Congenital reticular ichthyosiform erythroderma Keratinization disorder 609165 Autosomal dominant KRT10
Cutis laxa, hereditary Connective tissue dis. 123700, 219100, 219200, 304150 Autosomal dominant, Autosomal recessive, X-linked recessive ATP7A, ELN, FBLN4, FBLN5
Darier disease Keratinization disorder 124200 Autosomal dominant ATP2A2
Dowling-Degos disease Keratinization disorder 179850 Autosomal dominant KRT5
Disease type/subtype Group OMIM Inheritance Causative gene
Ectodermal dysplasia, pure hair and nail type Ectodermal dysplasia 602032 Autosomal dominant KRT85
Ectodermal dysplasia, skin fragility syndrome Ectodermal dysplasia 604536 Autosomal recessive PKP1
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome) Ectodermal dysplasia 129900, 604292 Autosomal dominant TP63
Ehlers-Danlos syndrome, arthrochalasis type Connective tissue dis. 130060 Autosomal dominant COL1A1, COL1A2
Ehlers-Danlos syndrome, classic type Connective tissue dis. 130000, 130010 Autosomal dominant COL5A1, COL5A2, COL1A1
Ehlers-Danlos syndrome, dermatosparaxis type Connective tissue dis. 225410 Autosomal recessive ADAMTS2
Ehlers-Danlos syndrome, hypermobility type Connective tissue dis. 130020, 606408 Autosomal dominant, Autosomal recessive TNXB, COL3A1
Ehlers-Danlos syndrome, kyphoscoliotic type Connective tissue dis. 225400 Autosomal recessive PLOD1
Ehlers-Danlos syndrome, vascular type Connective tissue dis. 130050 Autosomal dominant COL3A1
Disease type/subtype Group OMIM Inheritance Causative gene
Epidermolysis bullosa dystrophic dominant, acral Epithelial adhesion dis. 131750 Autosomal dominant, Autosomal recessive COL7A1
Epidermolysis bullosa dystrophic dominant, bullous dermolysis of the newborn Epithelial adhesion dis. 131705 Autosomal dominant, Autosomal recessive COL7A1
Epidermolysis bullosa dystrophic dominant, generalized Epithelial adhesion dis. 131750 Autosomal dominant COL7A1
Epidermolysis bullosa dystrophic dominant, nails only Epithelial adhesion dis. - Autosomal dominant, Autosomal recessive COL7A1
Epidermolysis bullosa dystrophic dominant, pretibial Epithelial adhesion dis. 131850 Autosomal dominant, Autosomal recessive COL7A1
Epidermolysis bullosa dystrophic dominant, pruriginosa Epithelial adhesion dis. 604129 Autosomal dominant, Autosomal recessive COL7A1
Disease type/subtype Group OMIM Inheritance Causative gene
Epidermolysis bullosa junctional, generalized severe Epithelial adhesion dis. 226700 Autosomal recessive LAMA3, LAMB3, LAMC2
Epidermolysis bullosa junctional, generalized intermediate Epithelial adhesion dis. 226650 Autosomal recessive COL17A1, LAMA3, LAMB3, LAMC2
Epidermolysis bullosa junctional, other Epithelial adhesion dis.      
Epidermolysis bullosa junctional, with pyloric atresia Epithelial adhesion dis. 226730 Autosomal recessive ITGB4, ITGA6
Disease type/subtype Group OMIM Inheritance Causative gene
Epidermolysis bullosa recessive dystrophic, centripetalis Epithelial adhesion dis. - Autosomal recessive COL7A1
Epidermolysis bullosa recessive dystrophic, bullous dermolysis of newborn Epithelial adhesion dis. 131705 Autosomal dominant, Autosomal recessive COL7A1
Epidermolysis bullosa recessive dystrophic, generalized intermediate Epithelial adhesion dis. 226600 Autosomal recessive COL7A1
Epidermolysis bullosa recessive dystrophic, generalized severe Epithelial adhesion dis. 226600 Autosomal recessive COL7A1
Epidermolysis bullosa recessive dystrophic, inversa Epithelial adhesion dis. 226600 Autosomal recessive COL7A1
Epidermolysis bullosa recessive dystrophic, pretibial Epithelial adhesion dis. 131850 Autosomal dominant, Autosomal recessive COL7A1
Epidermolysis bullosa recessive dystrophic, pruriginosa Epithelial adhesion dis. 604129 Autosomal dominant, Autosomal recessive COL7A1
Disease type/subtype Group OMIM Inheritance Causative gene
Epidermolysis bullosa simplex, autosomal recessive Epithelial adhesion dis. 131900 Autosomal dominant KRT5, KRT14, DST
Epidermolysis bullosa simplex, generalized intermediate Epithelial adhesion dis. 131900 Autosomal dominant KRT5, KRT14
Epidermolysis bullosa simplex, generalized severe Epithelial adhesion dis. 131760 Autosomal dominant KRT5, KRT14
Epidermolysis bullosa simplex, localized Epithelial adhesion dis. 131800 Autosomal dominant KRT5, KRT14
Epidermolysis bullosa simplex, migratory circinate Epithelial adhesion dis. 609352 Autosomal dominant KRT5
Epidermolysis bullosa simplex, with mottled pigmentation Epithelial adhesion dis. 131960 Autosomal dominant KRT5
Epidermolysis bullosa simplex, with muscular dystrophy Epithelial adhesion dis. 226670 Autosomal recessive PLEC1
Disease type/subtype Group OMIM Inheritance Causative gene
Epidermolytic Ichthyosis Keratinization disorder 113800 Autosomal dominant KRT1, KRT10
Erythrokeratodermia variabilis Keratinization disorder 133200, 609313 Autosomal dominant, Autosomal recessive GJB3, GJB4
Focal dermal hypoplasia syndrome Ectodermal dysplasia 305600 X-linked dominant PORCN
Hailey-Hailey disease Keratinization disorder 169600 Autosomal dominant ATP2C1
Harlequin type ichthyosis congenita Keratinization disorder 242500 Autosomal recessive ABCA12
Disease type/subtype Group OMIM Inheritance Causative gene
Hypohidrotic ectodermal dysplasia Ectodermal dysplasia 129490, 224900, 305100 Autosomal dominant, Autosomal recessive, X-linked recessive EDA, EDAR, EDARADD
Hypohidrotic ectodermal dysplasia, with immune deficiency Ectodermal dysplasia 164008, 300291 Autosomal dominant, X-linked dominant NFKBIA, IKK-gamma (NEMO)
Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema Ectodermal dysplasia 300301 X-linked dominant IKK-gamma (NEMO)
Ichthyosis hystrix of Curth-Macklin Keratinization disorder 146590 Autosomal dominant KRT1
Incontinentia pigmenti Ectodermal dysplasia 308300 X-linked dominant IKK-gamma (NEMO)
Disease type/subtype Group OMIM Inheritance Causative gene
Keratitis-ichthyosis-deafness syndrome Keratinization disorder 148210 Autosomal dominant GJB2, GJB6
Kindler syndrome Epithelial adhesion dis. 173650 Autosomal recessive KIND1
Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Keratinization disorder 242100, 242300, 601277, 604777, 606545, 604781 Autosomal recessive ABCA12, ALOX12B, ALOXE3, CYP4F22, ichthyin, TGM1
Laryngo-onycho-cutaneous (LOC) syndrome Epithelial adhesion dis. - Autosomal recessive LAMA3
Limb-mammary syndrome Ectodermal dysplasia 603543 Autosomal dominant TP63
Lipoid proteinosis Connective tissue dis. 247100 Autosomal recessive ECM1
Disease type/subtype Group OMIM Inheritance Causative gene
Monilethrix Keratinization disorder 158000 Autosomal dominant KRT81, KRT83, KRT86
Mutilating Vohwinkel palmo-plantar keratoderma with deafness Keratinization disorder 124500 Autosomal dominant GJB2
Mutilating Vohwinkel palmo-plantar keratoderma without deafness Keratinization disorder 604117 Autosomal dominant Loricrin
Naegeli syndrome Ectodermal dysplasia 161000 Autosomal dominant KRT14
Netherton syndrome Keratinization disorder 256500 Autosomal recessive SPINK5
Pachyonychia congenita Keratinization disorder 167200, 167210 Autosomal dominant KRT6A, KRT16, KRT6B, KRT17
Pachyonychia congenita Type 2        
Disease type/subtype Group OMIM Inheritance Causative gene
Palmoplantar Keratoderma Keratinization disorder 144200 Autosomal dominant KRT1, KRT9
Pseudoxanthoma Elasticum Connective tissue dis. 264800 Autosomal recessive ABCC6
Rapp-Hodgkin syndrome Ectodermal dysplasia 129400 Autosomal dominant TP63
Refsum disease Keratinization disorder 266500 Autosomal recessive PHYH, PEX7
Rothmund-Thomson syndrome Ectodermal dysplasia 268400 Autosomal recessive RECQL4
Sjögren Larsson syndrome Keratinization disorder 270200 Autosomal recessive ALDH3A2
Disease type/subtype Group OMIM Inheritance Causative gene
Superficial Epidermolytic Ichthyosis Keratinization disorder 146800 Autosomal dominant KRT2
Trichothiodystrophy DNA-repair disorder 601675, 211390, 275550, 234050 Autosomal recessive ERCC2/XPD, ERCC3/XPB, TTDA-GTF2H5, TTDN1-C7orf1-MPLKIP
UV-sensitive syndrome DNA-repair disorder 600630 Autosomal recessive CSA-ERCC8, CSB-ERCC6, UVSSA-KIAA1530
Xeroderma pigmentosum DNA-repair disorder 278700, 278720, 278730, 278740, 278760, 278780, 610651 Autosomal recessive XPA, XPB, XPC, XPD, XPE, XPF, XPG, POLH
X-linked recessive ichthyosis Keratinization disorder 308100 X-linked recessive STS