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ALDH18A1-related De Barsy syndrome
1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
Translocation renal cell carcinoma
1 OMIM reference -
7 associated genes
No signs/symptoms info
ALDH18A1-related De Barsy syndrome
Translocation renal cell carcinoma

ALDH18A1
(UniProt - OMIM)
 ASPSCR1
(UniProt - OMIM)
CLTC
(UniProt - OMIM)
NONO
(UniProt - OMIM)
PRCC
(UniProt - OMIM)
SFPQ
(UniProt - OMIM)
TFE3
(UniProt - OMIM)
TFEB
(UniProt - OMIM)

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


Citations in the biomedical literature:


ALDH18A1-related De Barsy syndrome
ALDH18A1
Translocation renal cell carcinoma
ASPSCR1 CLTC NONO PRCC SFPQ TFE3
TFEB



ALDH18A1-related De Barsy syndrome
Translocation renal cell carcinoma

Synonym(s):
- Delta-1-pyrroline 5-carboxylate synthetase deficiency
- Neurocutaneous syndrome, Bicknell type
- P5CS deficiency
Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma
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
- Rare renal 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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
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



Translocation renal cell carcinoma

(no data available)