ORPHA:419
Hyperprolinemia type 1
Synonyms: Proline oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperprolinemia type 1 | Proline oxidase deficiency |
| fr | Hyperprolinémie type I | Déficit en proline oxydase |
| de | Hyperprolinämie Typ I | Prolinoxydase-Mangel |
| es | Hiperprolinemia tipo 1 | Deficiencia de prolina oxidasa |
| it | Iperprolinemia tipo 1 | Deficit di prolina ossidasi |
| nl | Hyperprolinemie type 1 | Prolineoxidasedeficiëntie |
| pt | Hiperprolinemia tipo 1 | Deficiência de prolina oxidase |
| pl | Hiperprolinemia typu 1 | Niedobór oksydazy prolinowej |
| cs | Hyperprolinémie, typ 1 | Deficit prolin oxidázy |
| uk | Гіперпролінемія, тип 1 | Дефіцит проліноксидази |
| zh | 1型高脯氨酸血症 | 脯氨酸氧化酶缺乏 |
| tr | Hiperprolinemi tip 1 | Prolin oksidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239500 | E | validated | |
| ICD-10 | E72.5 | NTBT | inclusion | validated |
| ICD-11 | 5C50.8 | NTBT | index | validated |
| MONDO | 0009400 | E | validated | |
| UMLS | C0268529 | E | validated | |
| GARD | 2847 | E | validated | |
| MedDRA | 10058513 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:289866Disorder of proline metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRODH | Disease-causing germline mutation(s) in | Assessed | HGNC:9453 | ENSG00000100033 | 606810 | 22q11.21 | proline dehydrogenase 1 | 20524212[PMID]_23462603[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008358 | Hyperprolinemia | |
| HP:0000112 | Nephropathy | |
| HP:0003137 | Prolinuria | |
| HP:0000093 | Proteinuria | |
| Occasional (29-5%) | ||
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/419
- This record as JSON: /data/d/419.json