Hereditary orotic aciduria
Synonyms: Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary orotic aciduria | Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency |
| fr | Acidurie orotique héréditaire | Déficit en décarboxylase orotidylique · Déficit en uridine monophosphate synthase · Oroticacidurie |
| de | Orotazidurie, hereditäre | Orotidyl-Dekarboxylase-Mangel · Uridin-Monophosphat-Synthase-Mangel |
| es | Aciduria orótica hereditaria | Deficiencia de orotidílico decarboxilasa · Deficiencia de uridina monofosfato sintetasa |
| it | Aciduria orotica ereditaria | Deficit di orotidilico decarbossilasi · Deficit di uridina-monofosfato sintasi · Oroticaciduria |
| nl | Erfelijke orootacidurie | Deficiëntie van orotidyl-decarboxylase · Deficiëntie van uridinemonofosfaatsynthetase · Hereditaire orootacidurie |
| pt | Acidúria orótica hereditária | Acidúria orótica · Deficiência de descarboxilase orotidílica · Deficiência de uridina monofosfato sintetase |
| pl | Dziedziczna kwasica orotowa | Kwasica orotowa · Niedobór dekarboksylazy orotydyny · Niedobór syntetazy monofosforanu urydyny |
| cs | Dědičná orotová acidurie | Orotová acidurie |
| uk | Спадкова оротова ацидурія | Дефіцит оротидилдекарбоксилази · Дефіцит уридинмонофосфатсинтетази |
| zh | 遗传性乳清酸尿症 | 尿苷一磷酸合成酶缺乏症 |
| tr | Kalıtsal orotik asidüri | Orotidilik dekarboksilaz eksikliği · Üridin monofosfat sentetaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258900 | E | validated | |
| ICD-10 | E79.8 | NTBT | index | validated |
| ICD-11 | 3A03.0 | E | specific | validated |
| MONDO | 0009797 | E | validated | |
| MONDO | 9797 | E | validated | |
| MeSH | C537136 | E | validated | |
| UMLS | C0220987 | E | validated | |
| GARD | 5429 | E | validated | |
| MedDRA | 10052621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98415Vitamin B12- and folate-independent constitutional megaloblastic anemia
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UMPS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12563 | ENSG00000114491 | 613891 | 3q21.2 | uridine monophosphate synthetase | 9042911[PMID]_19562503[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 25757096[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25757096[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0001903 | Anemia | |
| HP:0001263 | Global developmental delay | |
| HP:0003526 | Orotic acid crystalluria | |
| HP:0003218 | Oroticaciduria | |
| Frequent (79-30%) | ||
| HP:0008388 | Abnormal toenail morphology | |
| HP:0011840 | Abnormality of T cell physiology | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001385 | Hip dysplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001744 | Splenomegaly | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/30
- This record as JSON: /data/d/30.json