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 | 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 |
| Ehlers-Danlos syndrome, arthrochalasis type | Connective tissue dis. | 130060 | Autosomal dominant | COL1A1, COL1A2 |
| Disease type/subtype | Group | OMIM | Inheritance | Causative gene |
|---|---|---|---|---|
| Epidermolysis bullosa dystrophica, autosomal dominant | Epithelial adhesion dis. | 131750 | Autosomal dominant | COL7A1 |
| Epidermolysis bullosa dystrophic dominant, transient bullous dermolysis of the newborn | Epithelial adhesion dis. | 131705 | Autosomal dominant, Autosomal recessive | COL7A1 |
| Epidermolysis bullosa dystrophic dominant, pretibial | Epithelial adhesion dis. | 131850 | Autosomal dominant, Autosomal recessive | COL7A1 |
| Epidermolysis bullosa pruriginosa | Epithelial adhesion dis. | 604129 | Autosomal dominant, Autosomal recessive | COL7A1 |
| Disease type/subtype | Group | OMIM | Inheritance | Causative gene |
|---|---|---|---|---|
| Epidermolysis bullosa junctional, severe | Epithelial adhesion dis. | Autosomal recessive | LAMA3, LAMB3, LAMC2 | |
| Epidermolysis bullosa junctional, intermediate | Epithelial adhesion dis. | Autosomal recessive | COL17A1, LAMA3, LAMB3, LAMC2 | |
| Epidermolysis bullosa junctional, other | Epithelial adhesion dis. | 614748 | ||
| Epidermolysis bullosa junctional, with pyloric atresia | Epithelial adhesion dis. | 226730, 619817 | Autosomal recessive | ITGB4, ITGA6 |
| Disease type/subtype | Group | OMIM | Inheritance | Causative gene |
|---|---|---|---|---|
| Epidermolysis bullosa recessive dystrophic, bullous dermolysis of newborn | Epithelial adhesion dis. | 131705 | Autosomal dominant, Autosomal recessive | COL7A1 |
| Epidermolysis bullosa recessive dystrophic, intermediate | Epithelial adhesion dis. | 226600 | Autosomal recessive | COL7A1 |
| Epidermolysis bullosa recessive dystrophic, 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. | Autosomal recessive | KRT5, KRT14, DST | |
| Epidermolysis bullosa simplex, intermediate | Epithelial adhesion dis. | Autosomal dominant | KRT5, KRT14 | |
| Epidermolysis bullosa simplex, severe | Epithelial adhesion dis. | Autosomal dominant | KRT5, KRT14 | |
| Epidermolysis bullosa simplex, localized | Epithelial adhesion dis. | 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. | 245660 | 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 |