Infantile cerebellar-retinal degeneration

Preferred Label : Infantile cerebellar-retinal degeneration;

Symbol : ICRD;

CISMeF acronym : ICRD;

Type : Phenotype, molecular basis known;

Description : Infantile cerebellar-retinal degeneration is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial aconitase gene (ACO2, 100850.0001);

Prefixed ID : #614559;

Details

Origin ID

614559;

UMLS CUI

C3281192;

Currated CISMeF NLP mapping
- Infantile cerebellar and retinal degeneration (disorder) [SNOMED CT concept]
- Infantile cerebellar-retinal degeneration [ORDO Disease]
- infantile cerebellar-retinal degeneration [DO Concept]
DO Cross reference
- infantile cerebellar-retinal degeneration [DO Concept]
Genes related to phenotype
- Aconitase 2 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Decreased body weight [HPO term]
- Demyelinating peripheral neuropathy [HPO term]
- Failure to thrive [HPO term]
- Focal-onset seizure [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive microcephaly [HPO term]
- Retinal dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe global developmental delay [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Infantile cerebellar-retinal degeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile cerebellar and retinal degeneration (disorder) [SNOMED CT concept]
- Infantile cerebellar-retinal degeneration [ORDO Disease]
- infantile cerebellar-retinal degeneration [DO Concept]

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