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PYCR1-related DeBarsy syndrome
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive cutis laxa type 2B
Geroderma osteodysplastica
17q11 microdeletion syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Hypoplastic left heart syndrome
Muscular dystrophy, Selcen type
Oculodentodigital dysplasia
Pseudohypoaldosteronism type 2E
Syndactyly type 3
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Synonym(s):
- PYCR1 deficiency
- Pyrroline-5-carboxylate reductase 1 deficiency
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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PYCR1 P32322179035
No signs/symptoms info available.