Distal hereditary motor neuropathy type 5

General Information (adopted from Orphanet):

Synonyms, Signs: dHMN5
Distal spinal muscular atrophy type 5
Number of Symptoms 15
OrphanetNr: 139536
OMIM Id: 600794
614751
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal hereditary motor neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001347) Hyperreflexia Rare [HPO:probinson] 363 / 7739
2
 (HPO:0001763) Pes planus Occasional [HPO:probinson] 176 / 7739
3
 (HPO:0003393) Thenar muscle atrophy 10 / 7739
4
 (HPO:0001761) Pes cavus Occasional [HPO:probinson] 225 / 7739
5
 (HPO:0001765) Hammertoe Occasional [HPO:probinson] 63 / 7739
6
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
7
 (HPO:0003426) First dorsal interossei muscle atrophy 5 / 7739
8
 (HPO:0003693) Distal amyotrophy 118 / 7739
9
 (HPO:0003435) Cold-induced hand cramps 3 / 7739
10
 (HPO:0003392) First dorsal interossei muscle weakness 5 / 7739
11
 (HPO:0003427) Thenar muscle weakness 5 / 7739
12
 (HPO:0002460) Distal muscle weakness 122 / 7739
13
 (HPO:0003674) Onset 32 / 7739
14
 (HPO:0003677) Slow progression 134 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: