ODCs

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Incontinentia pigmenti

1 OMIM reference -
1 associated gene
64 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Autosomal dominant hypohidrotic ectodermal dysplasia

2 OMIM references -
3 associated genes
18 signs/symptoms

Incontinentia pigmenti

Autosomal dominant hypohidrotic ectodermal dysplasia

IKBKG	(UniProt - OMIM)	EDAR	(UniProt - OMIM)
		EDARADD	(UniProt - OMIM)
		TRAF6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.89)	TRAF6

Citations in the biomedical literature:

Incontinentia pigmenti		Autosomal dominant hypohidrotic ectodermal dysplasia
	Synonym(s): - Bloch-Siemens syndrome - Bloch-Sulzberger syndrome		Synonym(s): - AD-HED - Autosomal dominant anhidrotic ectodermal dysplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D007184		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Abnormal fingernails - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anodontia / oligodontia / hypodontia - Tooth shape anomaly

Incontinentia pigmenti		Autosomal dominant hypohidrotic ectodermal dysplasia
	Very frequent - Absent / small fingernails / anonychia of hands - Cutaneous rash - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hair and scalp anomalies - Irregular / in bands / reticular skin hyperpigmentation - Irregular / patchy skin hypopigmentation - Nails anomalies - Telangiectasiae of the skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment - Warts / papillomas - X-linked dominant inheritance Frequent - Abnormal gait - Alopecia - Anomalies of ear and hearing - Anomalies of hands - Anomalies of the ribs - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Chronic skin infection / ulcerations / ulcers / cancrum - Cleft lip and palate - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Complete claw hand / camptodactyly of all fingers - Corneal clouding / opacity / vascularisation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Eosinophils anomalies / hypereosinophilia - Hyperactivity / attention deficit - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Osteolysis / osteoclasia / bone destruction / erosions - Scoliosis - Short stature / dwarfism / nanism - Strabismus / squint - Supernumerary nipples / polythelia - Visual loss / blindness / amblyopia Occasional - Abnormal toenails - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Blue sclerae - Cataract / lens opacification - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Encephalitis - Hand agenesis / absence - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Pulmonary hypertension - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Retinal / chorioretinal dysplasia / dystrophy - Seizures / epilepsy / absences / spasms / status epilepticus - Spina bifida occulta - Syndactyly of fingers / interdigital palm - Transient cerebral ischemia / stroke - Umbilical hernia		Very frequent - Anomalies of teeth and dentition - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Premature lost of decidious teeth - Thin skin Frequent - Alveolysis / paraodontitis Occasional - Eczema - Flattened nose - Frontal bossing / prominent forehead - Malignant hyperthermia - Thick lips