Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration

Preferred Label : Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration;

Symbol : SPG35;

CISMeF acronym : FAHN; SPG35;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fatty acid hydroxylase-associated neurodegeneration; Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; FAHN;

Description : Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by Dick et al., 2010). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. Kruer et al. (2010) referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fatty acid 2-hydroxylase gene (FA2H, 611026.0001);

Prefixed ID : #612319;

Details

Origin ID

612319;

UMLS CUI

C3496228;

Automatic exact mappings (from CISMeF team)
- FA2H wt Allele [NCIt concept]
- Fatty acid hydroxylase-associated neurodegeneration [ORDO Disease]
- fatty acid Hydroxylase-Associated neurodegeneration [MeSH concept]
- fatty acid Hydroxylase-Associated neurodegeneration [MeSH Supplementary Concept]
- symbol withdrawn SPG35 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 35 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 35 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 35 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 35 [NCIt concept]
- hereditary spastic paraplegia 35 [DO Concept]
- leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia [MeSH Supplementary Concept]
- leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia [MeSH concept]
DO Cross reference
- hereditary spastic paraplegia 35 [DO Concept]
Genes related to phenotype
- Fatty acid 2-hydroxylase [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Ataxia [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Difficulty walking [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysmyelinating leukodystrophy [HPO term]
- Dystonia [HPO term]
- External ophthalmoplegia [HPO term]
- Foot drop [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Lower limb spasticity [HPO term]
- Mental deterioration [HPO term]
- Neurodegeneration [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Poor school performance [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraparesis [HPO term]
- Strabismus [HPO term]
- Thin corpus callosum [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 35 [ORDO Disease]
- Fatty acid hydroxylase-associated neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 35 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 35 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 35 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 35 [DO Concept]
- leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia [MeSH concept]
- leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia [MeSH Supplementary Concept]

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