ORPHA:728764
NIT1-related cerebral small vessel disease
Synonyms: NIT1-brain small vessel disease · NIT1-SVD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NIT1-related cerebral small vessel disease | NIT1-brain small vessel disease · NIT1-SVD |
| fr | Maladie des petites artères cérébrales associée à NIT1 | |
| de | Zerebrale Mikroangiopathie, NIT1-abhängige | Angiopathie, zerebrale, NIT1-assoziierte · NIT1-SVD |
| es | Enfermedad de los pequeños vasos cerebrales asociada al gen NIT1 | NIT1-SVD |
| it | Malattia dei piccoli vasi cerebrali correlata a NIT1 | NIT1-SVD · Malattia dei piccoli vasi cerebrali-NIT1 |
| nl | NIT1-gerelateerde ziekte van kleine hersenvaten | NIT1-gerelateerde aandoening van klein bloedvat van hersenen · NIT1-gerelateerde cerebrale microangiopathie · NIT1-SVD |
| pt | NIT1-related cerebral small vessel disease | |
| pl | NIT1-related cerebral small vessel disease | = en |
| cs | NIT1-related cerebral small vessel disease | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621313 | 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 (2):
- ORPHA:79196Disorder of the gamma-glutamyl cycle
rare inborn errors of metabolism; rare genetic diseases - ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NIT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7828 | ENSG00000158793 | 604618 | 1q23.3 | nitrilase 1 | 38430071[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/728764
- This record as JSON: /data/d/728764.json