Spastic paraplegia-neuropathy-poikiloderma syndrome

Summary

Spastic paraplegia-neuropathy-poikiloderma syndrome (MONDO:0008442) 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).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 8

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		1	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0001029	Poikiloderma	Frequent (30-79%)
HP:0002064	Spastic gait	Frequent (30-79%)
HP:0003400	Basal lamina ‘onion bulb’ formation	Frequent (30-79%)
HP:0003693	Distal amyotrophy	Frequent (30-79%)
HP:0007020	Progressive spastic paraplegia	Frequent (30-79%)
HP:0007108	Demyelinating peripheral neuropathy	Frequent (30-79%)
HP:0007141	Sensorimotor neuropathy	Frequent (30-79%)
HP:0011457	Loss of eyelashes	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	spastic paraplegia-neuropathy-poikiloderma syndrome
Mondo ID	MONDO:0008442
MeSH	C536870
OMIM	182815
Orphanet	2821
UMLS	C1866851
MedGen	355814
GARD	0004921
Is cancer (heuristic)	no

Also known as: Antinolo-Nieto-Borrego syndrome · familial spastic paraplegia with neuropathy and poikiloderma · spastic paraplegia neuropathy poikiloderma

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-neuropathy-poikiloderma syndrome

Related subtypes (12): spastic paraplegia-epilepsy-intellectual disability syndrome, spastic paraplegia-nephritis-deafness 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.