ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

4 OMIM references -
5 associated genes
36 signs/symptoms

Pseudohypoaldosteronism type 2E

Short rib-polydactyly syndrome, Verma-Naumoff type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	WDR35

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Short rib-polydactyly syndrome, Verma-Naumoff type
	Synonym(s): - PHA2E		Synonym(s): - Short rib-polydactyly syndrome type 3

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: C537602

Short rib-polydactyly syndrome, Verma-Naumoff type
	Very frequent - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Early death / lethality - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Rib structure anomalies - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short rib cage / thorax Frequent - Abnormal vertebral size / shape - Ambiguous genitalia - Broad nose / nasal bridge - Congenital cardiac anomaly / malformation / cardiopathy - Congenital hepatic fibrosis - Depressed nasal bridge - Epicanthic folds - Frontal bossing / prominent forehead - Hydrops fetalis - Hypospadias / epispadias / bent penis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Median cleft lip - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Postaxial polydactyly (hand) Occasional - Anus ectopia / anteposition / malposition - Cataract / lens opacification - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Midline facial cleft - Omphalocele / exomphalos - Polycystic kidneys - Preaxial polydactyly (hand)
Pseudohypoaldosteronism type 2E
(no data available)