ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
3 associated genes
18 signs/symptoms

Adenine phosphoribosyltransferase deficiency

Autosomal dominant hypohidrotic ectodermal dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APRT	(0.63)	TRAF6

Citations in the biomedical literature:

Adenine phosphoribosyltransferase deficiency		Autosomal dominant hypohidrotic ectodermal dysplasia
	Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency		Synonym(s): - AD-HED - Autosomal dominant anhidrotic ectodermal dysplasia

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		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 - No MeSH references		External references: 2 OMIM references - No MeSH references

Adenine phosphoribosyltransferase deficiency		Autosomal dominant hypohidrotic ectodermal dysplasia
	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		Very frequent - Anodontia / oligodontia / hypodontia - 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 - Tooth shape anomaly Frequent - Abnormal fingernails - Alveolysis / paraodontitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Eczema - Flattened nose - Frontal bossing / prominent forehead - Malignant hyperthermia - Thick lips