Spastic paraplegia 74, autosomal recessive

Preferred Label : Spastic paraplegia 74, autosomal recessive;

Symbol : SPG74;

CISMeF acronym : SPG74;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the iron-sulfur cluster assembly factor IBA57 gene (IBA57, 615316.0002);

Laboratory abnormalities : Patient lymphoblastoid cells showed decreased activity of mitochondrial complexes I and II;

Prefixed ID : #616451;

Details

Origin ID

616451;

UMLS CUI

C5568837;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 74 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 74 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 74 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 74 [DO Concept]
Genes related to phenotype
- Iron-sulfur cluster assembly factor iba57 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Distal sensory impairment [HPO term]
- Hyperreflexia [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Visual field defect [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 74 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 74 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 74 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 74 [DO Concept]

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