Polyneuropathy-hand defect syndrome

Summary

Polyneuropathy-hand defect syndrome (MONDO:0008809) is a disease. A subtype of hereditary motor and sensory neuropathy — 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): 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		3	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	Very frequent (80-99%)
HP:0003202	Skeletal muscle atrophy	Very frequent (80-99%)
HP:0003560	Muscular dystrophy	Very frequent (80-99%)
HP:0007328	Impaired pain sensation	Very frequent (80-99%)
HP:0040129	Abnormal nerve conduction velocity	Very frequent (80-99%)
HP:0100490	Camptodactyly of finger	Very frequent (80-99%)
HP:0000966	Hypohidrosis	Frequent (30-79%)
HP:0002046	Heat intolerance	Frequent (30-79%)
HP:0004370	Abnormality of temperature regulation	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	polyneuropathy-hand defect syndrome
Mondo ID	MONDO:0008809
MeSH	C535624
OMIM	207740
Orphanet	2926
UMLS	C1859752
MedGen	349240
GARD	0002589
Is cancer (heuristic)	no

Also known as: aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy · congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy · congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy · Hamanishi Ueba Tsuji syndrome · Hamanishi-Ueba-Tsuji syndrome · polyneuropathy, hand defect

Disease family

This is a subtype of hereditary motor and sensory neuropathy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral neuropathy › hereditary peripheral neuropathy › hereditary motor and sensory neuropathy › polyneuropathy-hand defect syndrome

Related subtypes (7): hereditary thermosensitive neuropathy, autosomal dominant slowed nerve conduction velocity, hereditary sensorimotor neuropathy with hyperelastic skin, demyelinating hereditary motor and sensory neuropathy, severe early-onset axonal neuropathy due to MFN2 deficiency, hereditary motor and sensory neuropathy with acrodystrophy, hereditary motor and sensory neuropathy type 6

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.