Autosomal recessive axonal hereditary…

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Autosomal recessive axonal hereditary motor and sensory neuropathy

ORPHA:91024Clinical group

Also called AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal recessive
Classified as
Clinical group

Genes reported in subtypes

DNAJB2GDAP1HINT1IGHMBP2LMNALRSAM1MFN2MMENEFLPNKPSCO2SCYL1SLC25A46SORDSPG11TRIM2VRK1

Orphanet records these genes on 18 more specific entries under this disorder, not on this entry itself:

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeAutosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectAutosomal recessive axonal neuropathy with neuromyotoniaAutosomal recessive Charcot-Marie-Tooth disease type 2XAutosomal recessive Charcot-Marie-Tooth disease with hoarsenessCharcot-Marie-Tooth disease type 2B1Charcot-Marie-Tooth disease type 2B2Charcot-Marie-Tooth disease type 2B5Charcot-Marie-Tooth disease type 2HCharcot-Marie-Tooth disease type 2PCharcot-Marie-Tooth disease type 2RCharcot-Marie-Tooth disease type 2SCharcot-Marie-Tooth disease type 2TDistal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathyDNAJB2-related Charcot-Marie-Tooth disease type 2Hereditary motor and sensory neuropathy type 6Microcephaly-complex motor and sensory axonal neuropathy syndromeSevere early-onset axonal neuropathy due to MFN2 deficiency

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 19601UMLS C5680194

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.

Get started freeSee how Eleplan works →