Hereditary motor and sensory neuropathy with acrodystrophy

Summary

Hereditary motor and sensory neuropathy with acrodystrophy (MONDO:0019550) 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).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary motor and sensory neuropathy with acrodystrophy
Mondo ID	MONDO:0019550
Orphanet	90119
UMLS	C4749729
MedGen	1669448
GARD	0019124
Is cancer (heuristic)	no

Also known as: AR-CMT2 with acrodystrophy · autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy · autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy · HMSN with acrodystrophy

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 › hereditary motor and sensory neuropathy with acrodystrophy

Related subtypes (7): polyneuropathy-hand defect syndrome, 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 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.