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KID syndrome
3 OMIM references -
2 associated genes
14 connected diseases
49 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Hidrotic ectodermal dysplasia
Hypotrichosis-deafness syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Synonym(s):
- KID/HID syndrome
- Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness
- Senter syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GJB2 P29033121011
GJB6 O95452604418
Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal clouding / opacity / vascularisation
- Enanthema / aphtosa / aphta / leukoplakia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Macules
- Mild visual loss / impaired visual acuity
- Osteolysis / osteoclasia / bone destruction / erosions
- Photophobia
- Sensorineural deafness / hearing loss

Frequent
- Anomalies of tongue, gingiva and oral mucosa
- Decreased body hair / axillar / pubic hairlessness
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Fine hair
- Fissured / scrotal tongue
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Palmoplantar hyperkeratosis / keratoderma
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Anomalies of teeth and dentition
- Areflexia / hyporeflexia
- Arthritis / synovitis / synovial proliferation
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corneal ulceration / perforation
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Hearing loss / hypoacusia / deafness
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Multiple caries
- Musculo-tendinous retractions
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Tags on cheeks
- Thick skin / pachydermia / orange skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urticaria
- Visual loss / blindness / amblyopia