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Incontinentia pigmenti

1 OMIM reference -
1 associated gene
64 signs/symptoms

PROTEIN INTERACTIONS: 1

Adenine phosphoribosyltransferase deficiency

1 OMIM reference -
1 associated gene
7 signs/symptoms

Incontinentia pigmenti

Adenine phosphoribosyltransferase deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.56)	APRT

Citations in the biomedical literature:

Incontinentia pigmenti		Adenine phosphoribosyltransferase deficiency
	Synonym(s): - Bloch-Siemens syndrome - Bloch-Sulzberger syndrome		Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

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

Incontinentia pigmenti		Adenine phosphoribosyltransferase deficiency
	Very frequent - Abnormal fingernails - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / small fingernails / anonychia of hands - Anodontia / oligodontia / hypodontia - 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 - Tooth shape anomaly - 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 - Autosomal recessive inheritance - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hematuria / microhematuria - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections - Renal failure