Spastic paraplegia 28, autosomal recessive

Preferred Label : Spastic paraplegia 28, autosomal recessive;

Symbol : SPG28;

CISMeF acronym : SPG28;

Type : Phenotype, molecular basis known;

Description : SPG28 is an autosomal recessive neurodegenerative disorder characterized by early-onset, slowly progressive lower-limb spasticity resulting in walking difficulties. Some patients also have distal sensory impairment (summary by Tesson et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DDHD domain-containing protein 1 gene (DDHD1, 614603.0001);

Prefixed ID : #609340;

Details

Origin ID

609340;

UMLS CUI

C1836295;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 28 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 28 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 28 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 28 [DO Concept]
- spastic paraplegia 28, autosomal recessive [MeSH concept]
- spastic paraplegia 28, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 28 [DO Concept]
Genes related to phenotype
- Ddhd domain-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Difficulty walking [HPO term]
- Distal sensory impairment [HPO term]
- Distal sensory impairment of the lower extremities [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 28 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 28 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 28 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 28 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 28 [DO Concept]
- spastic paraplegia 28, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 28, autosomal recessive [MeSH concept]

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