Autosomal recessive cerebral atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebral atrophy | |
| fr | Atrophie cérébrale autosomique récessive | |
| de | Zerebrale Atrophie, autosomal-rezessive | |
| es | Atrofia cerebral autosómica recesiva | |
| it | Atrofia cerebrale autosomica recessiva | |
| nl | Autosomaal recessieve cerebrale atrofie | |
| pt | Atrofia cerebral autossómica recessiva | |
| pl | Autosomalny recesywny zanik móżdżku | |
| cs | Autozomálně recesivní mozková atrofie | |
| uk | Аутосомно-рецесивна церебральна атрофія | |
| zh | 常染色体隐性脑萎缩 | |
| tr | Otozomal resesif serebral atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0018218 | E | validated | |
| UMLS | C4755252 | 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:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMPRSS4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11878 | ENSG00000137648 | 606565 | 11q23.3 | transmembrane serine protease 4 | 23957953[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 23957953[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363969
- This record as JSON: /data/d/363969.json