ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

ALDH18A1-related De Barsy syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia


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

Citations in the biomedical literature:

ALDH18A1-related De Barsy syndrome		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - Delta-1-pyrroline 5-carboxylate synthetase deficiency - Neurocutaneous syndrome, Bicknell type - P5CS deficiency		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

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

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

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)