Cytoscape Web
Click node...

Porokeratotic eccrine ostial and dermal duct nevus
1 associated gene
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
KID syndrome
3 OMIM references -
2 associated genes
49 signs/symptoms
Porokeratotic eccrine ostial and dermal duct nevus
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:


Porokeratotic eccrine ostial and dermal duct nevus
GJB2
KID syndrome
GJB6



Porokeratotic eccrine ostial and dermal duct nevus
KID syndrome

Synonym(s):
- Comedo nevus of the palm
- Porokeratotic eccrine nevus
Synonym(s):
- KID/HID syndrome
- Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness
- Senter syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic 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:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references
KID syndrome

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


Porokeratotic eccrine ostial and dermal duct nevus

(no data available)