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 58 13 74
Distal Hereditary Motor Neuronopathy Type 5b 30 6
Dhmn Vb 58 76
Hmn Vb 58 76
Dhmn5b 58 76
Dsmavb 58 76
Hmn5b 58 76
Neuropathy, Distal Hereditary Motor, Type Vb; Dhmn5b 58
Spinal Muscular Atrophy, Distal, Type Vb; Dsmavb 58
Neuropathy, Motor, Distal, Hereditary, Type Vb 41
Neuropathy, Distal Hereditary Motor, Type Vb 58
Distal Hereditary Motor Neuropathy Type Vb 76
Neuronopathy, Distal Hereditary Motor, 5b 76
Spinal Muscular Atrophy, Distal, Type Vb 58
Spinal Muscular Atrophy Distal Type Vb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neuronopathy, distal hereditary motor, type vb:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614751
MeSH 45 D009134
UMLS 74 C3553656

Summaries for Neuronopathy, Distal Hereditary Motor, Type Vb

UniProtKB/Swiss-Prot : 76 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 pes cavus and decreased motor nerve conduction velocity

OMIM : 58 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)

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 decreased motor nerve conduction velocity 33 HP:0003431
3 areflexia 33 HP:0001284
4 hyporeflexia 33 HP:0001265
5 distal muscle weakness 33 HP:0002460
6 distal amyotrophy 33 HP:0003693

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

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

Skeletal Hands:
amyotrophy of the intrinsic hand muscles

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased motor nerve conduction velocities

Neurologic Central Nervous System:
unstable gait

Clinical features from OMIM:

614751

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 30 REEP1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Vb

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

42
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Vb

Variations for Neuronopathy, Distal Hereditary Motor, Type Vb

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 REEP1 NM_022912.2(REEP1): c.304-2A> G single nucleotide variant Pathogenic rs387907242 GRCh37 Chromosome 2, 86479195: 86479195
2 REEP1 NM_022912.2(REEP1): c.304-2A> G single nucleotide variant Pathogenic rs387907242 GRCh38 Chromosome 2, 86252072: 86252072

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
20 FMA
29 GO
30 GTR
31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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