ORPHA:79101
Hyperprolinemia type 2
Synonyms: Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperprolinemia type 2 | Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency |
| fr | Hyperprolinémie type 2 | Déficit en 1-pyrroline-5-carboxylate déshydrogénase |
| de | Hyperprolinämie Typ 2 | Delta-1-Pyrrolin-5-Carboxylat-Dehydrogenase-Mangel · Pyrrolincarboxylsäure-Dehydrogenasemangel |
| es | Hiperprolinemia tipo 2 | |
| it | Iperprolinemia, tipo 2 | Deficit di delta1-pirrolina-5-carbossilato deidrogenasi |
| nl | Hyperprolinemie type 2 | Deficiëntie van delta-1-pyrroline-5-carboxylaatdehydrogenase |
| pt | Hiperprolinemia tipo II | Deficiência de delta1-pirrolina-5-carboxilato desidrogenase |
| pl | Hiperprolinemia typu 2 | Niedobór dehydrogenazy delta 1-pirolino-5-karboksylanu |
| cs | Hyperprolinémie typu II | Deficit delta-1-pyrrolin-5-karboxylát dehydrogenázy |
| uk | Гіперпролінемія, тип 2 | Дефіцит дельта-1-піролін-5-карбоксилатдегідрогенази |
| zh | 高脯氨酸血症2型 | δ-1-吡咯啉-5-羧酸脱氢酶缺乏症 |
| tr | Hiperprolinemi tip 2 | Delta-1-pirolin-5- karboksilat dehidrogenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239510 | E | validated | |
| ICD-10 | E72.5 | NTBT | attributed | validated |
| ICD-11 | 5C50.8 | NTBT | index | validated |
| MONDO | 0009401 | E | validated | |
| MeSH | C538385 | E | validated | |
| UMLS | C2931835 | E | validated | |
| GARD | 6710 | E | validated | |
| MedDRA | 10058514 | 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 (3):
- 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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:406 | ENSG00000159423 | 606811 | 1p36.13 | aldehyde dehydrogenase 4 family member A1 | 9700195[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
51 annotations · validated 2021-09-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0000708 | Atypical behavior | |
| HP:0001263 | Global developmental delay | |
| HP:0003080 | Hydroxyprolinuria | |
| HP:0008358 | Hyperprolinemia | |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0003137 | Prolinuria | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0012432 | Chronic fatigue | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011199 | EEG with generalized sharp slow waves | |
| HP:0003546 | Exercise intolerance | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0003348 | Hyperalaninemia | |
| HP:0002154 | Hyperglycinemia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0003394 | Muscle spasm | |
| HP:0008326 | Reduced circulating vitamin B6 level | |
| HP:0002360 | Sleep abnormality | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0001284 | Areflexia | |
| HP:0010819 | Atonic seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0001289 | Confusion | |
| HP:0000716 | Depression | |
| HP:0002014 | Diarrhea | |
| HP:0002936 | Distal sensory impairment | |
| HP:0012534 | Dysesthesia | |
| HP:0002015 | Dysphagia | |
| HP:0011152 | Early onset absence seizures | |
| HP:0001298 | Encephalopathy | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0011968 | Feeding difficulties | |
| HP:0000738 | Hallucinations | |
| HP:0002490 | Increased CSF lactate | |
| HP:0011342 | Mild global developmental delay | |
| HP:0003326 | Myalgia | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001345 | Psychotic mentation | |
| HP:0000083 | Renal insufficiency | |
| HP:0000736 | Short attention span | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0002133 | Status epilepticus | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 24173411[PMID]_22516612[PMID]_31884946[PMID]_24931297[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79101
- This record as JSON: /data/d/79101.json