ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
18 signs/symptoms

Hypohidrotic ectodermal dysplasia with immunodeficiency

Bilateral renal agenesis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.68)	RET

Citations in the biomedical literature:

Hypohidrotic ectodermal dysplasia with immunodeficiency		Bilateral renal agenesis
	Synonym(s): - Anhidrotic ectodermal dysplasia with immunodeficiency - EDA-ID - HED-ID		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536482

Bilateral renal agenesis
	Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Epicanthic folds - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Oligoamnios - Short columella / depressed nasal tip - Stillbirth / neonatal death Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / colonic anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Sirenomelia / mermaid / lower limb fusion - Uterine / uterus / Fallopian tubes anomalies
Hypohidrotic ectodermal dysplasia with immunodeficiency
(no data available)