ORPHA:694937
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency | |
| fr | Syndrome de déficience intellectuelle-neuropathie périphérique-anomalies du corps calleux par à un déficit en nudix hydrolase 2 | |
| de | Intelligenzminderung-periphere Neuropathie-Corpus callosum-Anomalie-Syndrom durch Nudix-Hydrolase-2-Mangel | IDDPN · Intellektuelle Entwicklungsstörung mit oder ohne periphere Neuropathie |
| es | Síndrome de discapacidad intelectual-neuropatía periférica-anomalías del cuerpo calloso por deficiencia de nudix hidrolasa 2 | |
| it | Sindrome disabilità intellettiva-neuropatia periferica-anomalie del corpo calloso da deficit di nudix idrolasi 2 | |
| nl | Intellectuele achterstand - perifere neuropathie - afwijkingen van corpus callosum-syndroom door deficiëntie van nudix hydrolase 2 | |
| pt | Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency | |
| pl | Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency | |
| cs | Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619844 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:207025Rare hereditary neurologic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NUDT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8049 | ENSG00000164978 | 602852 | 9p13.3 | nudix hydrolase 2 | 38141063[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 27431290[PMID]_30059600[PMID]_38141063[PMID]_38243213[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27431290[PMID]_30059600[PMID]_38141063[PMID]_38243213[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/694937
- This record as JSON: /data/d/694937.json