HMN2C
MCID: NRN018
MIFTS: 34

Neuronopathy, Distal Hereditary Motor, Type Iic (HMN2C)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Iic 57 13 70
Distal Hereditary Motor Neuronopathy Type 2c 12 29 6 15
Hmn Iic 57 12 72
Dhmn2c 57 12 72
Hmn2c 57 12 72
Distal Hereditary Motor Neuropathy Type Iic 12 72
Neuropathy, Distal Hereditary Motor, Type Iic; Dhmn2c 57
Neuropathy, Motor, Distal, Hereditary, Type 2c 39
Neuropathy, Distal Hereditary Motor, Type Iic 57
Neuronopathy, Distal Hereditary Motor, 2c 72
Dhmn Iic 72

Characteristics:

OMIM®:

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

Miscellaneous:
slowly progressive
one family has been reported
onset in early twenties
lower limb involvement occurs before upper limb involvement


HPO:

31
neuronopathy, distal hereditary motor, type iic:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111209
OMIM® 57 613376
MeSH 44 D009134
MedGen 41 C3150619
UMLS 70 C3150619

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iic

UniProtKB/Swiss-Prot : 72 Neuronopathy, distal hereditary motor, 2C: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders 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.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Iic, also known as distal hereditary motor neuronopathy type 2c, is related to neuronopathy, distal hereditary motor, type iia and spinal muscular atrophy, distal, autosomal recessive, 2. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Iic is HSPB3 (Heat Shock Protein Family B (Small) Member 3). Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are skeletal muscle atrophy and peripheral neuropathy

Disease Ontology : 12 A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in HSPB3 on 5q11.2.

More information from OMIM: 613376

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Iic

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix Neuronopathy, Distal Hereditary Motor, Type Vc
Autosomal Recessive Distal Hereditary Motor Neuronopathy Distal Hereditary Motor Neuronopathy Type 7
Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Neuronopathy, Distal Hereditary Motor, Type Iic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type iia 10.2 ODF1 HSPB8
2 spinal muscular atrophy, distal, autosomal recessive, 2 10.1 HSPB8 HSPB3
3 charcot-marie-tooth disease, type 4a 10.1 LITAF HSPB8
4 myopathy, myofibrillar, 2 10.1 HSPB8 CRYAB
5 charcot-marie-tooth disease, axonal, type 2b 10.0 LITAF HSPB8
6 hereditary sensory and autonomic neuropathy type 1 10.0 SPTLC2 LITAF
7 charcot-marie-tooth disease, axonal, type 2f 9.9 LITAF HSPB8 HSPB3
8 alexander disease 9.9 HSPB3 CRYAB
9 myh-9 related disease 9.9 MYH7B MYH14
10 deafness, autosomal dominant 17 9.9 MYH7B MYH14
11 charcot-marie-tooth disease, demyelinating, type 1c 9.9 SPTLC2 LITAF HSPB8
12 charcot-marie-tooth disease and deafness 9.9 SPTLC2 LITAF HSPB8
13 neuropathy, hereditary sensory and autonomic, type iia 9.9 SPTLC2 LITAF HSPB8
14 motor peripheral neuropathy 9.9 LITAF HSPB8
15 autosomal dominant distal hereditary motor neuronopathy 9.9 HSPB8 FBXO38
16 neuropathy, hereditary sensory and autonomic, type ic 9.8 SPTLC2 MYH14 LITAF
17 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.8 SPTLC2 LITAF HSPB8
18 hypertrophic neuropathy of dejerine-sottas 9.8 LITAF HSPB8
19 charcot-marie-tooth disease, axonal, type 2e 9.8 LITAF HSPB8 HSPB3
20 neuromuscular disease 9.7 LITAF HSPB8 CRYAB
21 spinal muscular atrophy 9.6 LITAF HSPB8 FBXO38
22 distal hereditary motor neuronopathy type 2 9.6 ODF1 HSPB8 HSPB3 FBXO38
23 tooth disease 9.5 LITAF HSPB8 HSPB3 FBXO38
24 neuropathy 9.4 SPTLC2 MYH14 LITAF HSPB8 HSPB3
25 myopathy 9.4 MYH7B MYH14 HSPB8 CRYAB
26 charcot-marie-tooth disease 9.0 SPTLC2 MYH14 LITAF HSPB8 HSPB3 FBXO38

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type Iic:



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Iic

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 31 HP:0003202
2 peripheral neuropathy 31 HP:0009830
3 steppage gait 31 HP:0003376
4 distal lower limb muscle weakness 31 HP:0009053
5 difficulty walking 31 HP:0002355
6 distal upper limb muscle weakness 31 HP:0008959
7 lower limb muscle weakness 31 HP:0007340
8 areflexia of lower limbs 31 HP:0002522
9 emg: neuropathic changes 31 HP:0003445
10 hyporeflexia of lower limbs 31 HP:0002600

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
steppage gait
distal lower limb muscle weakness
difficulty walking
distal upper limb muscle weakness
areflexia of lower limbs
more
Muscle Soft Tissue:
distal lower and upper limb muscle atrophy
atrophy of the intrinsic foot and hand muscles

Clinical features from OMIM®:

613376 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Iic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 CRYAB HSPB3 HSPB8 LITAF MYH14 MYH7B

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Iic

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 2c 29 HSPB3

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iic

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

40
Spinal Cord, Skeletal Muscle

Publications for Neuronopathy, Distal Hereditary Motor, Type Iic

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

# Title Authors PMID Year
1
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. 57 6
20142617 2010
2
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family. 61
29341343 2018
3
HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration. 61
27567740 2016

Variations for Neuronopathy, Distal Hereditary Motor, Type Iic

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

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPB3 NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) SNV Conflicting interpretations of pathogenicity 353901 rs150931007 GRCh37: 5:53751966-53751966
GRCh38: 5:54456136-54456136
2 HSPB3 NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys) SNV Conflicting interpretations of pathogenicity 471413 rs147724326 GRCh37: 5:53751890-53751890
GRCh38: 5:54456060-54456060
3 HSPB3 NM_006308.3(HSPB3):c.2T>C (p.Met1Thr) SNV Uncertain significance 1019333 GRCh37: 5:53751621-53751621
GRCh38: 5:54455791-54455791
4 HSPB3 NM_006308.3(HSPB3):c.229G>T (p.Val77Leu) SNV Uncertain significance 538750 rs148535965 GRCh37: 5:53751848-53751848
GRCh38: 5:54456018-54456018
5 HSPB3 NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu) SNV Uncertain significance 862897 GRCh37: 5:53752056-53752056
GRCh38: 5:54456226-54456226
6 HSPB3 NM_006308.3(HSPB3):c.68G>A (p.Arg23Gln) SNV Uncertain significance 931148 GRCh37: 5:53751687-53751687
GRCh38: 5:54455857-54455857
7 HSPB3 NM_006308.3(HSPB3):c.346C>T (p.Arg116Ter) SNV Uncertain significance 846157 GRCh37: 5:53751965-53751965
GRCh38: 5:54456135-54456135
8 HSPB3 NM_006308.3(HSPB3):c.246del (p.Glu83fs) Deletion Uncertain significance 955679 GRCh37: 5:53751865-53751865
GRCh38: 5:54456035-54456035
9 HSPB3 NM_006308.3(HSPB3):c.194G>A (p.Arg65Gln) SNV Uncertain significance 471412 rs371683736 GRCh37: 5:53751813-53751813
GRCh38: 5:54455983-54455983
10 HSPB3 NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu) SNV Uncertain significance 634486 rs746502208 GRCh37: 5:53752027-53752027
GRCh38: 5:54456197-54456197
11 HSPB3 NC_000005.10:g.(?_54455780)_(54456252_?)del Deletion Uncertain significance 832677 GRCh37: 5:53751610-53752082
GRCh38:
12 HSPB3 NM_006308.3(HSPB3):c.-89T>C SNV Uncertain significance 353896 rs186550955 GRCh37: 5:53751531-53751531
GRCh38: 5:54455701-54455701
13 HSPB3 NM_006308.3(HSPB3):c.158C>A (p.Ser53Tyr) SNV Uncertain significance 353897 rs756831768 GRCh37: 5:53751777-53751777
GRCh38: 5:54455947-54455947
14 HSPB3 NM_006308.3(HSPB3):c.*16T>G SNV Uncertain significance 353904 rs201783790 GRCh37: 5:53752088-53752088
GRCh38: 5:54456258-54456258
15 HSPB3 NM_006308.3(HSPB3):c.*10G>A SNV Uncertain significance 904057 GRCh37: 5:53752082-53752082
GRCh38: 5:54456252-54456252
16 HSPB3 NM_006308.3(HSPB3):c.*11G>T SNV Uncertain significance 904058 GRCh37: 5:53752083-53752083
GRCh38: 5:54456253-54456253
17 HSPB3 NM_006308.3(HSPB3):c.*79C>T SNV Uncertain significance 904059 GRCh37: 5:53752151-53752151
GRCh38: 5:54456321-54456321
18 HSPB3 NM_006308.3(HSPB3):c.-67C>T SNV Uncertain significance 906391 GRCh37: 5:53751553-53751553
GRCh38: 5:54455723-54455723
19 HSPB3 NM_006308.3(HSPB3):c.67C>T (p.Arg23Ter) SNV Uncertain significance 906393 GRCh37: 5:53751686-53751686
GRCh38: 5:54455856-54455856
20 HSPB3 NM_006308.3(HSPB3):c.98dup (p.Leu34fs) Duplication Uncertain significance 648201 rs778166378 GRCh37: 5:53751716-53751717
GRCh38: 5:54455886-54455887
21 HSPB3 NM_006308.3(HSPB3):c.316G>A (p.Glu106Lys) SNV Uncertain significance 811167 rs761417751 GRCh37: 5:53751935-53751935
GRCh38: 5:54456105-54456105
22 HSPB3 NM_006308.3(HSPB3):c.240C>T (p.Phe80=) SNV Likely benign 538751 rs760600821 GRCh37: 5:53751859-53751859
GRCh38: 5:54456029-54456029
23 HSPB3 NM_006308.3(HSPB3):c.-17C>A SNV Likely benign 906392 GRCh37: 5:53751603-53751603
GRCh38: 5:54455773-54455773
24 HSPB3 NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser) SNV Likely benign 5429 rs139382018 GRCh37: 5:53751640-53751640
GRCh38: 5:54455810-54455810
25 HSPB3 NM_006308.3(HSPB3):c.321C>T (p.His107=) SNV Likely benign 353900 rs367560285 GRCh37: 5:53751940-53751940
GRCh38: 5:54456110-54456110
26 HSPB3 NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln) SNV Benign 471414 rs150931007 GRCh37: 5:53751966-53751966
GRCh38: 5:54456136-54456136
27 HSPB3 NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu) SNV Benign 353902 rs41270303 GRCh37: 5:53751974-53751974
GRCh38: 5:54456144-54456144
28 HSPB3 NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser) SNV Benign 353898 rs35258119 GRCh37: 5:53751818-53751818
GRCh38: 5:54455988-54455988
29 HSPB3 NM_006308.3(HSPB3):c.282G>A (p.Leu94=) SNV Benign 353899 rs7699 GRCh37: 5:53751901-53751901
GRCh38: 5:54456071-54456071
30 HSPB3 NM_006308.3(HSPB3):c.369T>C (p.Gly123=) SNV Benign 353903 rs7823 GRCh37: 5:53751988-53751988
GRCh38: 5:54456158-54456158

UniProtKB/Swiss-Prot genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Iic:

72
# Symbol AA change Variation ID SNP ID
1 HSPB3 p.Arg7Ser VAR_063773 rs139382018

Expression for Neuronopathy, Distal Hereditary Motor, Type Iic

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Iic

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Iic

Cellular components related to Neuronopathy, Distal Hereditary Motor, Type Iic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYH7B MYH14
2 cardiac myofibril GO:0097512 8.62 MYH7B CRYAB

Biological processes related to Neuronopathy, Distal Hereditary Motor, Type Iic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cellular response to heat GO:1900034 8.62 HSPB8 CRYAB

Sources for Neuronopathy, Distal Hereditary Motor, Type Iic

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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