MCID: NRN024
MIFTS: 22

Neuronopathy, Distal Hereditary Motor, Type Vb

Categories: Genetic diseases, Neuronal diseases, Muscle 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 73
Distal Hereditary Motor Neuronopathy Type 5b 29 6
Dhmn Vb 57 75
Hmn Vb 57 75
Dhmn5b 57 75
Dsmavb 57 75
Hmn5b 57 75
Neuropathy, Distal Hereditary Motor, Type Vb; Dhmn5b 57
Spinal Muscular Atrophy, Distal, Type Vb; Dsmavb 57
Neuropathy, Motor, Distal, Hereditary, Type Vb 40
Neuropathy, Distal Hereditary Motor, Type Vb 57
Distal Hereditary Motor Neuropathy Type Vb 75
Neuronopathy, Distal Hereditary Motor, 5b 75
Spinal Muscular Atrophy, Distal, Type Vb 57
Spinal Muscular Atrophy Distal Type Vb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neuronopathy, distal hereditary motor, type vb:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614751
MeSH 44 D009134
UMLS 73 C3553656

Summaries for Neuronopathy, Distal Hereditary Motor, Type Vb

UniProtKB/Swiss-Prot : 75 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 hyporeflexia and areflexia

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)

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Vb

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
amyotrophy of the intrinsic hand muscles

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

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

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
unstable gait


Clinical features from OMIM:

614751

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 pes cavus 32 HP:0001761
4 distal muscle weakness 32 HP:0002460
5 decreased motor nerve conduction velocity 32 HP:0003431
6 distal amyotrophy 32 HP:0003693

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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