ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

17q11 microdeletion syndrome

Triose phosphate-isomerase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	TPI1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Triose phosphate-isomerase deficiency
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): (no synonyms)

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Triose phosphate-isomerase deficiency
	Very frequent - Autosomal recessive inheritance - Functional anomalies of the nervous system - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy Frequent - Diaphragmatic hernia / defect / agenesis - Stillbirth / neonatal death Occasional - Cardiomyopathy / hypertrophic / dilated - Nerve conduction abnormality
17q11 microdeletion syndrome
(no data available)