HMN5B
MCID: NRN024
MIFTS: 22

Neuronopathy, Distal Hereditary Motor, Type Vb (HMN5B)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type Vb

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type Vb:

Name: Neuronopathy, Distal Hereditary Motor, Type Vb 57 13 70
Distal Hereditary Motor Neuronopathy Type 5b 12 29 6
Dhmn Vb 57 72
Hmn Vb 57 72
Dhmn5b 57 72
Dsmavb 57 72
Hmn5b 57 72
Neuropathy, Distal Hereditary Motor, Type Vb; Dhmn5b 57
Spinal Muscular Atrophy, Distal, Type Vb; Dsmavb 57
Neuropathy, Motor, Distal, Hereditary, Type Vb 39
Neuropathy, Distal Hereditary Motor, Type Vb 57
Distal Hereditary Motor Neuropathy Type Vb 72
Neuronopathy, Distal Hereditary Motor, 5b 72
Spinal Muscular Atrophy, Distal, Type Vb 57
Distal Spinal Muscular Atrophy Type Vb 12
Spinal Muscular Atrophy Distal Type Vb 72
Distal Hmn Vb 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade
one family (4 affected members) has been reported (last curated july 2012)


HPO:

31
neuronopathy, distal hereditary motor, type vb:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111205
OMIM® 57 614751
MeSH 44 D009134
UMLS 70 C3553656

Summaries for Neuronopathy, Distal Hereditary Motor, Type Vb

UniProtKB/Swiss-Prot : 72 Neuronopathy, distal hereditary motor, 5B: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN5B is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Vb, also known as distal hereditary motor neuronopathy type 5b, is related to spastic paraplegia 17, autosomal dominant. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Vb is REEP1 (Receptor Accessory Protein 1). Affiliated tissues include spinal cord, and related phenotypes are areflexia and pes cavus

Disease Ontology : 12 A distal hereditary motor neuronopathy type 5 that has material basis in heterozygous mutation in REEP1 on 2p11.2.

OMIM® : 57 Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; 182960). (614751) (Updated 20-May-2021)

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Vb

Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type Vb

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Vb:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 decreased motor nerve conduction velocity 31 HP:0003431
5 distal muscle weakness 31 HP:0002460
6 distal amyotrophy 31 HP:0003693

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased motor nerve conduction velocities

Muscle Soft Tissue:
muscle weakness, distal
muscle atrophy, distal

Skeletal Hands:
amyotrophy of the intrinsic hand muscles

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
unstable gait

Clinical features from OMIM®:

614751 (Updated 20-May-2021)

Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type Vb

Search Clinical Trials , NIH Clinical Center for Neuronopathy, Distal Hereditary Motor, Type Vb

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Vb

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type Vb:

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 5b 29 REEP1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Vb

MalaCards organs/tissues related to Neuronopathy, Distal Hereditary Motor, Type Vb:

40
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Vb

Articles related to Neuronopathy, Distal Hereditary Motor, Type Vb:

# Title Authors PMID Year
1
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 57 6
22703882 2012
2
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. 61
29107646 2018

Variations for Neuronopathy, Distal Hereditary Motor, Type Vb

ClinVar genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Vb:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REEP1 NM_001371279.1(REEP1):c.304-2A>G SNV Pathogenic 35598 rs387907242 GRCh37: 2:86479195-86479195
GRCh38: 2:86252072-86252072
2 REEP1 NM_001371279.1(REEP1):c.837G>T (p.Ser279=) SNV Uncertain significance 1861 rs377637314 GRCh37: 2:86444180-86444180
GRCh38: 2:86217057-86217057
3 REEP1 NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr) SNV Uncertain significance 1029867 GRCh37: 2:86481914-86481914
GRCh38: 2:86254791-86254791

Expression for Neuronopathy, Distal Hereditary Motor, Type Vb

Search GEO for disease gene expression data for Neuronopathy, Distal Hereditary Motor, Type Vb.

Pathways for Neuronopathy, Distal Hereditary Motor, Type Vb

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Vb

Sources for Neuronopathy, Distal Hereditary Motor, Type Vb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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