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Hyperprolinemia type 2
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Argininemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538385
Gene symbol UniProt reference OMIM reference
ALDH4A1 P30038606811
No signs/symptoms info available.