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ALDH18A1-related De Barsy syndrome

1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

Total spina bifida cystica

6 associated genes
No signs/symptoms info

ALDH18A1-related De Barsy syndrome

Total spina bifida cystica

ALDH18A1	(UniProt - OMIM)		FUZ	(UniProt - OMIM)
			MTHFD1	(UniProt - OMIM)
			MTHFR	(UniProt - OMIM)
			T	(UniProt - OMIM)
			VANGL1	(UniProt - OMIM)
			VANGL2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALDH18A1	(0.49)	MTHFD1

Citations in the biomedical literature:

ALDH18A1-related De Barsy syndrome		Total spina bifida cystica
	Synonym(s): - Delta-1-pyrroline 5-carboxylate synthetase deficiency - Neurocutaneous syndrome, Bicknell type - P5CS deficiency		Synonym(s): (no synonyms)

	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 developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: neonatal/infancy Average age of death: - Type of inheritance: multigenic/multifactorial

	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
Total spina bifida cystica
(no data available)