ORPHA:477
KID syndrome
Synonyms: Ichthyosis hystrix Rheydt type · KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome · Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome · Senter syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KID syndrome | Ichthyosis hystrix Rheydt type · KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome · Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome · Senter syndrome |
| fr | Syndrome KID | Ichtyose de Rheydt · Syndrome KID/HID · Syndrome de Senter · Syndrome de kératite-ichtyose-surdité/Ichtyose hystrix-like-surdité |
| de | KID-Syndrom | Ichthyosis hystrix Typ Rheydt · KID/HID-Syndrom · Keratitis-Ichthyose-Schwerhörigkeit-Syndrom · Keratitis-Ichthyosis-Hörverlust/Hystrixartige Ichthyosis-Hörverlust-Syndrom · Senter-Syndrom |
| es | Síndrome KID | Ictiosis hystrix tipo Rheydt · Síndrome KID/HID · Síndrome de Senter · Síndrome de queratitis-ictiosis-hipoacusia / ictiosis similar a hystrix-hipoacusia · Síndrome de queratitis-ictiosis-sordera / ictiosis similar a hystrix-sordera |
| it | Sindrome KID | Ittiosi istrice tipo Rheydt · Ittiosi istrice-simile - sordità - cheratite · Sindrome KID/HID · Sindrome cheratite-ittiosi-perdita dell'udito/ittiosi simil-istrice-perdita dell'udito · Sindrome cheratite-ittiosi-sordità/ittiosi simil-istrice-sordità · Sindrome di Senter |
| nl | KID-syndroom | Ichthyosis hystrix, Rheydt-type · KID/HID-syndroom · Keratitis - ichthyosis - doofheid/Hystrix-achtige ichthyosis - doofheid-syndroom · Keratitis - ichthyosis - gehoorverlies/Hystrix-achtige ichthyosis - gehoorverlies-syndroom · Syndroom van Senter |
| pt | Síndrome KID | Ictiose histrix tipo Rheydt · Síndrome KID/HID · Síndrome Senter · Síndrome de queratite-ictiose-surdez/ictiose histrix-like-perda auditiva · Síndrome de queratite-ictiose-surdez/ictiose histrix-like-surdez |
| pl | Zespół KID | Zapalenie rogówki-rybia łuska-głuchota/Kolczasta rybia łuska-głuchota · Zespół KID/HID · Zespół Senter |
| cs | KID syndrom | KID/HID syndrom · Syndrom zahrnující keratitidu, ichtyózu a hluchotu/Hystrix-like ichtióza s hluchotou · Senterův syndrom |
| uk | Синдром КІD | Ichthyosis hystrix типу Rheydt · Кератит-іхтіоз-глухота/Синдром іхтіозу-глухоти, схожий на гістрікс · Кератит-іхтіоз-втрата слуху/Синдром гістрікс-подібного іхтіозу-втрати слуху · Синдром KID/HID · Синдром Сентера |
| zh | 角膜炎-鱼鳞病-耳聋综合征 | 角膜炎-鱼鳞病-听力丧失/豪猪状鱼鳞病-听力丧失综合征 |
| tr | KID sendromu | Senter sendromu · KID / HID sendromu · İktiyoz histriks Rheydt tipi · Keratit-iktiyoz-sağırlık / Histriks benzeri iktiyoz-sağırlık sendromu · Keratit-iktiyoz-işitme kaybı / Histriks benzeri iktiyoz-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148210 | E | validated | |
| OMIM | 242150 | BTNT | validated | |
| OMIM | 602540 | BTNT | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0018781 | E | validated | |
| MeSH | C536168 | E | validated | |
| UMLS | C0265336 | E | validated | |
| GARD | 3113 | E | validated | |
| MedDRA | 10048786 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:522566Rare genetic inflammatory/autoimmune corneal disorder
rare genetic diseases - ORPHA:519290Rare inflammatory/autoimmune corneal disorder
rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4284 | ENSG00000165474 | 121011 | 13q12.11 | gap junction protein beta 2 | |
| GJB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4288 | ENSG00000121742 | 604418 | 13q12.11 | gap junction protein beta 6 | 15140211[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ISBN:0723436657[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ISBN:0723436657[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
60 annotations · validated 2021-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011496 | Corneal neovascularization | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0007431 | Congenital ichthyosiform erythroderma | |
| HP:0000509 | Conjunctivitis | |
| HP:0200020 | Corneal erosion | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0000491 | Keratitis | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0032107 | Limbal stem cell deficiency | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000613 | Photophobia | |
| HP:0000399 | Prelingual sensorineural hearing impairment | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0011859 | Punctate keratitis | |
| HP:0001581 | Recurrent skin infections | |
| HP:0040189 | Scaling skin | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| HP:0200035 | Skin plaque | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0008070 | Sparse hair | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0030318 | Angular cheilitis | |
| HP:0008038 | Aplastic/hypoplastic lacrimal glands | |
| HP:0001369 | Arthritis | |
| HP:0001508 | Failure to thrive | |
| HP:0025084 | Folliculitis | |
| HP:0000966 | Hypohidrosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001805 | Onychogryphosis | |
| HP:0025610 | Posterior blepharitis | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0005401 | Recurrent candida infections | |
| HP:0011370 | Recurrent cutaneous fungal infections | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0040154 | Acne inversa | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002673 | Coxa valga | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0008788 | Delayed pubic bone ossification | |
| HP:0008138 | Equinus calcaneus | |
| HP:0000230 | Gingivitis | |
| HP:0006380 | Knee flexion contracture | |
| HP:0030839 | Knee pain | |
| HP:0031250 | Lip fissure | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0100648 | Neoplasm of the tongue | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0011220 | Prominent forehead | |
| HP:0100838 | Recurrent cutaneous abscess formation | |
| HP:0100806 | Sepsis | |
| HP:0200036 | Skin nodule | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0012844 | Trichilemmoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32367610[PMID]_32733727[PMID]_31421982[PMID]_33614714[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477
- This record as JSON: /data/d/477.json