Infantile cerebellar-retinal degeneration
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurometabolic disease characterized by infantile onset truncal ataxia/hypotonia, athetosis, generalized seizures and ophthalmologic abnormalities notably optic atrophy and retinal degeneration (strabismus, nystagmus, abnormal eye movements, and abnormal pursuit can also be present). Additional clinical features may include cerebral changes (thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy), severely delayed global and psychomotor development with profound intellectual disability, failure to thrive, muscle atrophy and hyperreflexia. Most patients are not able to walk. Some patients may have milder and variable phenotype including mild developmental delay, ataxia and behavioral abnormalities. Short stature, moderate to severe sensorineural hearing loss, dysmorphic facial features (including prominent forehead, downslanting palpebral fissures, droopy eyelids, bifid uvula, submucous cleft palate) are also reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile cerebellar-retinal degeneration | |
| fr | Dégénérescence cérébello-rétinienne infantile | |
| de | Zerebellär-retinale Degeneration, infantile | Aconitase-Mangel, mitochondrialer |
| es | Degeneración cerebelosa-retiniana del lactante | |
| it | Degenerazione cerebellare-retinica infantile | |
| nl | Infantiele cerebellaire-retinale degeneratie | Mitochondriale aconitasedeficiëntie |
| pt | Degenerescência cerebelosa-retiniana da infância | Deficiência de aconitase mitocondrial |
| pl | Niemowlęce zwyrodnienie móżdżkowo-siatkówkowe | |
| cs | Infantilní cerebelární a retinální degenerace | |
| uk | Інфантильна мозочково-ретинальна дегенерація | |
| zh | 婴儿小脑-视网膜变性 | |
| tr | İnfantil serebellar-retina dejenerasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614559 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.1 | NTBT | attributed | validated |
| MONDO | 0013802 | E | validated | |
| UMLS | C3281192 | E | validated | |
| GARD | 13264 | 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 (6):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:254749Tricarboxylic acid cycle disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:118 | ENSG00000100412 | 100850 | 22q13.2 | aconitase 2 | 22405087[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 22405087[PMID]_25351951[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22405087[PMID]_25351951[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313850
- This record as JSON: /data/d/313850.json