AICA-ribosiduria
Synonyms: 5-amino-4-imidazole carboxamide ribosiduria · AICA-ribosiduria due to ATIC deficiency · AICAR transformylase/IMP cyclohydrolase deficiency · ATIC deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AICA-ribosiduria | 5-amino-4-imidazole carboxamide ribosiduria · AICA-ribosiduria due to ATIC deficiency · AICAR transformylase/IMP cyclohydrolase deficiency · ATIC deficiency |
| fr | AICA-ribosidurie | 5-amino-4-imidazole carboxamide ribosidurie · AICA-ribosidurie par déficit en ATIC · Déficit en AICAR transformylase / IMP cyclohydrolase · Déficit en ATIC |
| de | AICA-Ribosidurie | 5-Amino-4-Imidazolcarboxamid-Ribosidurie · AICA-Ribosidurie durch ATIC-Mangel · AICAR-Transformylase und IMP-Zyklohydrolase-Mangel · ATIC-Defizienz · ATIC-Mangel |
| es | AICA ribosiduria | 5-amino-4-imidazolcarboxamida ribosiduria · AICA ribosiduria por deficiencia de ATIC · Deficiencia de AICAR transformilasa/IMP ciclohidrolasa · Deficiencia de ATIC |
| it | AICA-ribosiduria | 5-amino-4-imidazol-carbossamide ribosiduria · Deficit di ATIC |
| nl | AICA-ribosidurie | 5-amino-4-imidazolcarboxamideribosidurie · AICA-ribosidurie door ATIC-deficiëntie · ATIC-deficiëntie · Deficiëntie van AICAR-transformylase/IMP-cyclohydrolase |
| pt | Ribosiduria-AICA | Deficiência de ATIC · Ribosiduria 5-amino-4-imidazolecarboxamida |
| pl | AICA-ribosiduria | 5-amino-4-imidazole carboxamide ribosiduria · Niedobór ATIC |
| cs | AICA-ribosidurie | 5-amino-4-imidazol karboxiamidová ribosidurie · Decifit ATIC |
| uk | AICA-рибозидурія | 5-аміно-4-імідазол-карбоксамідна рибозидурія · Дефіцит трансферилази AICAR/циклогідролази IMP · AICA-рибозидурія внаслідок дефіциту ATIC · Дефіцит ATIC |
| zh | 4-氨基咪唑-5-羧酰胺核糖尿 | 4-氨基咪唑-5-羧酰胺核糖尿 |
| tr | AICA-ribosidüri | ATIC eksikliği · 5-amino-4-imidazol karboksamid ribosidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608688 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | index | validated |
| MONDO | 0012099 | E | validated | |
| MeSH | C563876 | E | validated | |
| UMLS | C1837530 | 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 (4):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATIC | Disease-causing germline mutation(s) in | Assessed | HGNC:794 | ENSG00000138363 | 601731 | 2q35 | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | 15114530[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 15114530[PMID]_32557644[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15114530[PMID]_32557644[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
10 annotations · validated 2017-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0007875 | Congenital blindness | |
| HP:0000063 | Fused labia minora | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000369 | Low-set ears | |
| HP:0011220 | Prominent forehead | |
| HP:0001250 | Seizure | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000154 | Wide mouth | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 15114530[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250977
- This record as JSON: /data/d/250977.json