ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Phosphoribosylpyrophosphate synthetase superactivity


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	PRPS1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Phosphoribosylpyrophosphate synthetase superactivity
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): (no synonyms)

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

Phosphoribosylpyrophosphate synthetase superactivity
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Hyperuricemia - Sensorineural deafness / hearing loss - X-linked recessive inheritance Frequent - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Renal failure - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiomyopathy / hypertrophic / dilated - Chronic arterial hypertension - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Strabismus / squint
Distal 17p13.3 microdeletion syndrome
(no data available)