NESCAV syndrome
Synonyms: Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare syndromic neurodegenerative syndrome characterized by infancy/childhood-onset global developmental delay, poor or absent speech, moderate to severe intellectual disability, hypotonia, progressive spasticity (mainly affecting the lower limbs and leading to walking difficulties or loss of independent ambulation), and peripheral axonal neuropathy. The clinical presentation varies among affected individuals and other major clinical features include progressive cerebellar atrophy (in some patients cerebral atrophy may also be present), postnatal microcephaly, cortical visual impairment (associated with optic atrophy), seizures, hyperreflexia, dysautonomia, ataxia, dystonia, behavioral abnormalities and feeding difficulties. Joint contractures, scoliosis and kyphosis may also be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NESCAV syndrome | Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome |
| fr | Syndrome de NESCAV | Syndrome de neurodégénérescence-spasticité-atrophie cérébelleuse-cécité corticale |
| de | NESCAV-Syndrom | Neurodegeneration-Spastik-Kleinhirnatrophie-kortikale Sehstörungen-Syndrom |
| es | Síndrome NESCAV | Síndrome de neurodegeneración-espasticidad-atrofia cerebelosa-discapacidad visual cortical |
| it | Sindrome NESCAV | Sindrome neurodegenerazione-spasticità-atrofia cerebellare-compromissione della vista di origine corticale · Sindrome neurodegenerazione-spasticità -atrofia cerebellare-compromissione della vista di origine corticale |
| nl | NESCAV-syndroom | Neurodegeneratie - spasticiteit - cerebellaire atrofie - corticale visuele stoornis-syndroom |
| pt | Síndrome NESCAV | Síndrome de neurodegeneração-espasticidade-atrofia cerebelosa-compromisso visual cortical |
| pl | Zespół NESCAV | = en |
| cs | Syndrom NESCAV | = en |
| uk | Синдром NESCAV | Нейродегенерація-спастичність-мозочкова атрофія-кортикальний синдром порушення зору |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614255 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| UMLS | C5393830 | 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 (2):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| KIF1A | Disease-causing germline mutation(s) in | Assessed | HGNC:888 | ENSG00000130294 | 601255 | 2q37.3 | kinesin family member 1A | 34121983[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 21376300[PMID]_25253658[PMID]_25265257[PMID]_26125038[PMID]_26354034[PMID]_27034427[PMID]_26486474[PMID]_30385166[PMID]_31805580[PMID]_32096284[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 21376300[PMID]_25253658[PMID]_25265257[PMID]_26125038[PMID]_26354034[PMID]_27034427[PMID]_26486474[PMID]_30385166[PMID]_31805580[PMID]_32096284[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/662367
- This record as JSON: /data/d/662367.json