Spastic paraplegia 55, autosomal recessive

Preferred Label : Spastic paraplegia 55, autosomal recessive;

Symbol : SPG55;

CISMeF acronym : SPG55;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 12 open reading frame 65 gene (C12orf65, 613541.0003);

Prefixed ID : #615035;

Details

Origin ID

615035;

UMLS CUI

C3539506;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 55 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 55 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 55 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 55 [DO Concept]
Genes related to phenotype
- Mitochondrial translation release factor in rescue [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Central scotoma [HPO term]
- Clonus [HPO term]
- Cognitive impairment [HPO term]
- Difficulty walking [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired distal tactile sensation [HPO term]
- Impaired distal vibration sensation [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Knee clonus [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Onion bulb formation [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Reduced visual acuity [HPO term]
- Spastic paraplegia [HPO term]
- Steppage gait [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Tibialis anterior muscle atrophy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 55 [ORDO Disease]
See also inter- (CISMeF)
- mitochondrial translation release factor in rescue [ORDO Gene]
- mitochondrial translation release factor in rescue [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 55 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 55 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 55 [DO Concept]

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