PAICS deficiency
Synonyms: Phosphoribosylaminoimidazole carboxylase deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PAICS deficiency | Phosphoribosylaminoimidazole carboxylase deficiency |
| fr | Déficience en PAICS | Déficience en phosphoribosylaminoimidazole carboxylase |
| de | Phosphoribosylaminoimidazol-Carboxylase-Mangel | PAICS-Defizienz · PAICS-Mangel |
| es | Deficiencia PAICS | Deficiencia de fosforribosil-aminoimidazol-carboxilasa |
| it | Deficit di PAICS | Deficit di fosforibosil-aminoimidazolo carbossilasi |
| nl | PAICS-deficiëntie | Deficiëntie van fosforibosylaminoimidazool-carboxylase |
| pt | Deficiência PAICS | Deficiência de fosforribosil aminoimidazole carboxilase |
| pl | Niedobór PAICS | = en |
| cs | Deficit PAICS | = en |
| uk | Дефіцит PAICS | Дефіцит фосфорибозиламіноімідазолкарбоксилази |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619859 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | attributed | validated |
| MONDO | 0859003 | E | validated | |
| UMLS | C1291561 | 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:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAICS | Disease-causing germline mutation(s) in | Assessed | HGNC:8587 | 4q12 | phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | 31600779[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 39726239[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39726239[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633099
- This record as JSON: /data/d/633099.json