Encephalopathy, progressive, with amyotrophy and optic atrophy

Preferred Label : Encephalopathy, progressive, with amyotrophy and optic atrophy;

Symbol : PEAMO;

CISMeF acronym : PEAMO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tubulin-specific chaperone E gene (TBCE, 604934.0004);

Prefixed ID : #617207;

Details

Origin ID

617207;

UMLS CUI

C4310667;

Automatic exact mappings (from CISMeF team)
- TBCE wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) [SNOMED CT concept]
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome [ORDO Disease]
Genes related to phenotype
- Tubulin-specific chaperone e [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Encephalopathy [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Spinal muscular atrophy [HPO term]
Not associated HPO term(s)
- Growth abnormality [HPO term]
ORDO concept(s)
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome [ORDO Disease]

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