Hyperprolinemia type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
1-@ PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY HPII Delta1-pyrroline-5-carboxylate dehydrogenase deficiency |
| Number of Symptoms | 13 |
| OrphanetNr: | 79101 |
| OMIM Id: |
239510
|
| ICD-10: |
E72.5 |
| UMLs: |
C0268530 C2931835 |
| MeSH: |
C538385 |
| MedDRA: |
10058512 10058514 |
| Snomed: |
124177001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Amino acid or protein metabolism disease with epilepsy
-Rare neurologic disease Disorder of proline metabolism -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0003137) | Prolinuria | 4 / 7739 | ||||
|
|
(HPO:0003108) | Hyperglycinuria | 11 / 7739 | ||||
|
|
(HPO:0003080) | Hydroxyprolinuria | 7 / 7739 | ||||
|
|
(HPO:0003355) | Aminoaciduria | 65 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0008358) | Hyperprolinemia | 5 / 7739 | ||||
|
|
(OMIM) | Delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine | 1 / 7739 | ||||
|
|
(OMIM) | P5C levels increased in urine | 1 / 7739 | ||||
|
|
(OMIM) | Delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes | 1 / 7739 | ||||
|
|
(OMIM) | Delta-1-pyrroline-5-carboxylate (P5C) levels increased in plasma | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Recurrent seizures | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Emery et al. (1968) described an affected mentally retarded 18-year-old girl whose retarded sister had died, presumably of the same disorder. Selkoe (1969) described a second type of hyperprolinemia with only mild mental retardation and without renal disease. ... |
| Molecular genetics OMIM |
In 3 unrelated probands with type II hyperprolinemia, Geraghty et al. (1998) found 3 mutant alleles: 2 with frameshift mutations and 1 with a missense mutation (606811.0001-606811.0003). Vasiliou et al. (1999) reviewed mutations in the ALDH4 ... |