HMN3
MCID: SPN355
MIFTS: 21

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 (HMN3)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 58 74
Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive 58 13
Dsma3 58 60
Autosomal Recessive Distal Spinal Muscular Atrophy Type 3 60
Neuronopathy, Distal Hereditary Motor, Type Iii; Hmn3 58
Neuronopathy, Distal Hereditary Motor, Type Iv; Hmn4 58
Distal Hereditary Motor Neuropathy Type 3 and Type 4 60
Neuronopathy, Distal Hereditary Motor, Type Iii 58
Neuronopathy, Distal Hereditary Motor, Type Iv 58
Neuropathy, Distal Hereditary Motor, Type Iv 58
Distal Spinal Muscular Atrophy Type 3 60
Dhmn3 and Dhmn4 60
Hmn Iii 58
Hmn Iv 58
Dhmn4 58
Dhmn3 58
Hmn4 58
Hmn3 58

Characteristics:

Orphanet epidemiological data:

60
distal spinal muscular atrophy type 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
age of onset ranges from infancy to young adulthood (6 months-19 years)


HPO:

33
spinal muscular atrophy, distal, autosomal recessive, 3:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 607088
ICD10 via Orphanet 35 G12.2
UMLS via Orphanet 75 C1846823
Orphanet 60 ORPHA139547
MedGen 43 C1846823
UMLS 74 C1846823

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

OMIM : 58 Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006). (607088)

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3, also known as spinal muscular atrophy, chronic distal, autosomal recessive, is related to spinal muscular atrophy, distal, x-linked 3. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 is SMAR (Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive). Related phenotypes are hyperlordosis and reduced vital capacity

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Diseases in the Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 family:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, x-linked 3 11.1

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 33 HP:0003307
2 reduced vital capacity 33 HP:0002792
3 distal lower limb muscle weakness 33 HP:0009053
4 distal amyotrophy 33 HP:0003693
5 diaphragmatic weakness 33 HP:0009113
6 emg: neuropathic changes 33 HP:0003445
7 spinal muscular atrophy 33 HP:0007269
8 interosseus muscle atrophy 33 HP:0007181

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
hyperlordosis

Respiratory Lung:
decreased respiratory vital capacity

Neurologic Central Nervous System:
emg shows neurogenic abnormalities
muscle atrophy, distal
muscle weakness, distal limbs, due to neuronopathy
early and severe foot extensor muscle involvement
primarily affects distal lower limbs
more
Chest Diaphragm:
diaphragmatic paraparesis

Clinical features from OMIM:

607088

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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