ODCs

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Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

KID syndrome

3 OMIM references -
2 associated genes
49 signs/symptoms

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

KID syndrome

GJB2	(UniProt - OMIM)		GJB2	(UniProt - OMIM)
			GJB6	(UniProt - OMIM)


COMMON GENES	GJB2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJB2	(0.59)	GJB6

Citations in the biomedical literature:

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		KID syndrome
	Synonym(s): - Bart-Pumphrey syndrome - Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome		Synonym(s): - KID/HID syndrome - Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness - Senter syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease		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 -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		KID syndrome
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Subcutaneous nodules / lipomas / tumefaction / swelling		Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - 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 - 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 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 - 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