Hyperprolinemia Type 2(Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ALDH4A1/8659 | aldehyde dehydrogenase 4 family member A1 | 1p36.13 | Chr1, NC_000001.11 (18871430..18902555, complement) |
31126 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities