Spastic paraplegia-epilepsy-intellectual disability syndrome

Summary

Spastic paraplegia-epilepsy-intellectual disability syndrome (MONDO:0008439) is a disease. A subtype of autosomal dominant complex spastic paraplegia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	spastic paraplegia-epilepsy-intellectual disability syndrome
Mondo ID	MONDO:0008439
MeSH	C536869
OMIM	182610
Orphanet	2816
UMLS	C1866854
MedGen	356631
GARD	0004915
Is cancer (heuristic)	no

Also known as: spastic paraplegia epilepsy intellectual disability · spastic paraplegia epilepsy mental retardation · spastic paraplegia, epilepsy, and intellectual disability · spastic paraplegia, epilepsy, and mental retardation · SPEMR · spemr

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant complex spastic paraplegia › spastic paraplegia-epilepsy-intellectual disability syndrome

Related subtypes (12): spastic paraplegia-nephritis-deafness syndrome, spastic paraplegia-neuropathy-poikiloderma syndrome, spastic paraplegia-precocious puberty syndrome, hereditary spastic paraplegia 17, hereditary spastic paraplegia 29, hereditary spastic paraplegia 38, hereditary spastic paraplegia 36, spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant spastic paraplegia type 9, spastic paraplegia-facial-cutaneous lesions syndrome, spastic paraplegia-Paget disease of bone syndrome, spastic paraplegia 18a, autosomal dominant

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.