ORPHA:293633
PYCR1-related De Barsy syndrome
Synonyms: PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under De Barsy syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PYCR1-related De Barsy syndrome | PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency |
| fr | Syndrome de De Barsy associé à PYCR1 | Déficit en PYCR1 · Déficit en pyrroline-5-carboxylate réductase 1 |
| de | PYCR1-assoziiertes De Barsy-Syndrom | PYCR1-Mangel · Pyrrolin-5-Carboxylat-Reduktase 1-Mangel |
| es | Síndrome de De Barsy asociado a PYCR1 | |
| it | Sindrome di De Barsy correlata a PYCR1 | |
| nl | PYCR1-gerelateerd syndroom van De Barsy | Deficiëntie van pyrroline-5-carboxylaatreductase 1 · PYCR1-deficiëntie |
| pt | Síndrome De Barsy PYCR1-relacionado | |
| pl | Zespół DeBarsy | Niedobór PYCR1 · Niedobór reduktazy 1 5-karboksylanu piroliny |
| cs | PYCR1-vázaný De Barsyův syndrom | Deficit PYCR1 · Deficit pyrrolidin-5-karboxylát reduktázy 1 |
| uk | Синдром де Барсі, повязаний з PYCR1 | Дефіцит PYCR1 · Дефіцит піролін-5-карбоксилатредуктази 1 |
| zh | PYCR1基因相关De Barsy综合征 | 吡咯啉-5-羧酸还原酶1缺乏症 |
| tr | PYCR1-ilişkili De Barsy sendromu | PYCR1 eksikliği · Pirolin-5-karboksilat redüktaz 1 eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614438 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | attributed | validated |
| MONDO | 0013755 | E | validated | |
| UMLS | C3280799 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2962De Barsy syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PYCR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9721 | ENSG00000183010 | 179035 | 17q25.3 | pyrroline-5-carboxylate reductase 1 | 22052856[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293633
- This record as JSON: /data/d/293633.json