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ALDH18A1-related De Barsy syndrome

1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

Dedifferentiated liposarcoma

3 associated genes
No signs/symptoms info

ALDH18A1-related De Barsy syndrome

Dedifferentiated liposarcoma

ALDH18A1	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
			HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALDH18A1	(0.63)	MDM2

Citations in the biomedical literature:

ALDH18A1-related De Barsy syndrome		Dedifferentiated liposarcoma
	Synonym(s): - Delta-1-pyrroline 5-carboxylate synthetase deficiency - Neurocutaneous syndrome, Bicknell type - P5CS deficiency		Synonym(s): - DDLS

	Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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 recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

ALDH18A1-related De Barsy syndrome
	Very frequent - Cataract / lens opacification - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability
Dedifferentiated liposarcoma
(no data available)