Spastic paraplegia-nephritis-deafness syndrome

Summary

Spastic paraplegia-nephritis-deafness syndrome (MONDO:0008440) 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): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		4	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000093	Proteinuria	Very frequent (80-99%)
HP:0000112	Nephropathy	Very frequent (80-99%)
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001257	Spasticity	Very frequent (80-99%)
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0001347	Hyperreflexia	Very frequent (80-99%)
HP:0002167	Abnormality of speech or vocalization	Very frequent (80-99%)
HP:0010550	Paraplegia	Very frequent (80-99%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0003510	Severe short stature	Occasional (5-29%)
HP:0004209	Clinodactyly of the 5th finger	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	spastic paraplegia-nephritis-deafness syndrome
Mondo ID	MONDO:0008440
MeSH	C537937
OMIM	182690
Orphanet	2820
UMLS	C1866853
MedGen	355816
GARD	0002342
Is cancer (heuristic)	no

Also known as: Fitzsimmons Walson Mellor syndrome · Fitzsimmons-Walson-Mellor syndrome · spastic paraplegia - nephritis - deafness · spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy · spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy

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-nephritis-deafness syndrome

Related subtypes (12): spastic paraplegia-epilepsy-intellectual disability 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.