HMN2A
MCID: NRN035
MIFTS: 33

Neuronopathy, Distal Hereditary Motor, Type Iia (HMN2A)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Iia 56 71
Distal Hereditary Motor Neuronopathy Type 2a 12 29 6 15
Hmn Iia 56 12 73
Hmn2a 56 12 73
Neuropathy, Distal Hereditary Motor, Type Iia 56 13
Distal Hereditary Motor Neuropathy Type Iia 12 73
Dhmn2a 56 73
Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia 56
Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia 73
Neuropathy, Distal Hereditary Motor, Type Iia; Dhmn2a 56
Autosomal Dominant Adult Spinal Muscular Atrophy Iia 12
Neuropathy, Motor, Distal, Hereditary, Type 2a 39
Neuronopathy, Distal Hereditary Motor, 2a 73
Charcot-Marie-Tooth Disease, Spinal, Iia 56
Spinal Charcot-Marie-Tooth Disease Iia 12
Charcot-Marie-Tooth Disease Spinal Iia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 21 years (range 14-35 years)
rapid disease progression
charcot-marie-tooth disease type 2l (cmt2l, ) is an allelic disorder with an overlapping phenotype
see also hmn2b


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111208
OMIM 56 158590
MeSH 43 D009134
MedGen 41 C1834692
SNOMED-CT via HPO 68 263681008 44695005
UMLS 71 C1834692

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iia

UniProtKB/Swiss-Prot : 73 Neuronopathy, distal hereditary motor, 2A: 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 Iia, also known as distal hereditary motor neuronopathy type 2a, is related to charcot-marie-tooth disease, axonal, type 2l and vitreoretinal dystrophy. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Iia is HSPB8 (Heat Shock Protein Family B (Small) Member 8). Affiliated tissues include spinal cord, and related phenotypes are distal lower limb muscle weakness and paralysis

Disease Ontology : 12 A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in HSPB8 on 12q24.23.

More information from OMIM: 158590

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Iia

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 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 Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2l 10.1 HSPB8 CRYAA
2 vitreoretinal dystrophy 10.1 INSC CRYAA
3 myopathy, myofibrillar, 2 10.1 HSPB8 CRYAA
4 myopathy, myofibrillar, 6 10.1 HSPB8 HSPB6
5 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 HSPB8 CRYAA
6 amyotrophic lateral sclerosis 12 10.0 CRYAA ALS2
7 amyotrophic lateral sclerosis 9 10.0 CRYAA ALS2
8 distal hereditary motor neuronopathy type 2 9.8 HSPB8 HSPB6 CRYAA
9 myofibrillar myopathy 9.8 HSPB8 HSPB6 CRYAA
10 autosomal dominant distal hereditary motor neuronopathy 9.7 HSPB8 ALS2
11 ocular motility disease 9.7 MUSK CRYAA
12 spinal and bulbar muscular atrophy, x-linked 1 9.7 HSPB8 CRYAA
13 peripheral nervous system disease 9.6 MUSK HSPB8 CRYAA
14 cenani-lenz syndactyly syndrome 9.5 MUSK CCDC78
15 charcot-marie-tooth disease 9.4 HSPB8 HSPB6 CRYAA ALS2
16 neuromuscular disease 9.3 MUSK HSPB8 CRYAA ALS2
17 ptosis 9.2 MUSK CRYAA CCDC78

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



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Iia

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 distal lower limb muscle weakness 31 HP:0009053
2 paralysis 31 HP:0003470
3 emg: neuropathic changes 31 HP:0003445
4 areflexia of lower limbs 31 HP:0002522
5 hyporeflexia of lower limbs 31 HP:0002600
6 paresis of extensor muscles of the big toe 31 HP:0002601

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
areflexia of lower limbs
hyporeflexia of lower limbs
paresis of extensor muscles of the big toe is presenting symptom
muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy
progression to paralysis and atrophy of distal lower limb muscles
more

Clinical features from OMIM:

158590

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Iia

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 2a 29 HSPB8

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iia

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

40
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Iia

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

(show all 11)
# Title Authors PMID Year
1
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 6 56
15122253 2004
2
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. 6 56
1517763 1992
3
Mutant HSPB8 causes motor neuron-specific neurite degeneration. 56
20538880 2010
4
Molecular genetics of distal hereditary motor neuropathies. 56
15358725 2004
5
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. 56
10777663 2000
6
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. 56
8817349 1996
7
Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves. 56
8433103 1993
8
A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy. 56
3789668 1986
9
Benign familial spinal muscular atrophy with hypertrophy of the calves. 56
7125978 1982
10
L-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways. 61
28747872 2017
11
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. 61
23796487 2013

Variations for Neuronopathy, Distal Hereditary Motor, Type Iia

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

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSPB8 NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn)SNV Pathogenic 2617 rs104894345 12:119624885-119624885 12:119187080-119187080
2 HSPB8 NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)SNV Pathogenic 2618 rs104894351 12:119624883-119624883 12:119187078-119187078
3 HSPB8 NM_014365.2(HSPB8):c.413A>C (p.Asn138Thr)SNV Likely pathogenic 560411 rs1565929080 12:119624875-119624875 12:119187070-119187070
4 HSPB8 NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)SNV Conflicting interpretations of pathogenicity 567484 rs146900850 12:119617131-119617131 12:119179326-119179326
5 HSPB8 NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys)SNV Conflicting interpretations of pathogenicity 450945 rs148514935 12:119631571-119631571 12:119193766-119193766
6 HSPB8 NM_014365.2(HSPB8):c.432-10T>ASNV Conflicting interpretations of pathogenicity 464510 rs368810689 12:119631494-119631494 12:119193689-119193689
7 HSPB8 NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg)SNV Conflicting interpretations of pathogenicity 307417 rs35909818 12:119617383-119617383 12:119179578-119179578
8 HSPB8 NM_014365.2(HSPB8):c.233G>T (p.Arg78Met)SNV Conflicting interpretations of pathogenicity 380971 rs55826713 12:119617350-119617350 12:119179545-119179545
9 HSPB8 NM_014365.2(HSPB8):c.*648A>GSNV Uncertain significance 307427 rs770364674 12:119632311-119632311 12:119194506-119194506
10 HSPB8 NM_014365.2(HSPB8):c.*803T>CSNV Uncertain significance 307430 rs886049029 12:119632466-119632466 12:119194661-119194661
11 HSPB8 NM_014365.2(HSPB8):c.-201G>TSNV Uncertain significance 307413 rs764259720 12:119616917-119616917 12:119179112-119179112
12 HSPB8 NM_014365.2(HSPB8):c.*504T>CSNV Uncertain significance 307422 rs886049027 12:119632167-119632167 12:119194362-119194362
13 HSPB8 NM_014365.2(HSPB8):c.-314T>CSNV Uncertain significance 307412 rs754447057 12:119616804-119616804 12:119178999-119178999
14 HSPB8 NM_014365.2(HSPB8):c.-172G>CSNV Uncertain significance 307415 rs886049025 12:119616946-119616946 12:119179141-119179141
15 HSPB8 NM_014365.2(HSPB8):c.*67T>GSNV Uncertain significance 307420 rs886049026 12:119631730-119631730 12:119193925-119193925
16 HSPB8 NM_014365.2(HSPB8):c.-480C>GSNV Uncertain significance 307410 rs886049024 12:119616638-119616638 12:119178833-119178833
17 HSPB8 NM_014365.2(HSPB8):c.269C>T (p.Pro90Leu)SNV Uncertain significance 560410 rs1565927080 12:119617386-119617386 12:119179581-119179581
18 HSPB8 NM_014365.2(HSPB8):c.-489G>ASNV Uncertain significance 307409 rs886049023 12:119616629-119616629 12:119178824-119178824
19 HSPB8 NC_000012.12:g.119178791C>GSNV Uncertain significance 881961 12:119616596-119616596 12:119178791-119178791
20 HSPB8 NC_000012.12:g.119178894A>TSNV Uncertain significance 883131 12:119616699-119616699 12:119178894-119178894
21 HSPB8 NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)SNV Uncertain significance 880624 12:119617280-119617280 12:119179475-119179475
22 HSPB8 NM_014365.3(HSPB8):c.*123G>ASNV Uncertain significance 883984 12:119631786-119631786 12:119193981-119193981
23 HSPB8 NM_014365.3(HSPB8):c.*330A>TSNV Uncertain significance 883985 12:119631993-119631993 12:119194188-119194188
24 HSPB8 NM_014365.3(HSPB8):c.*788C>TSNV Uncertain significance 882104 12:119632451-119632451 12:119194646-119194646
25 HSPB8 NM_014365.3(HSPB8):c.*860T>CSNV Uncertain significance 883245 12:119632523-119632523 12:119194718-119194718
26 HSPB8 NM_014365.2(HSPB8):c.48G>A (p.Leu16=)SNV Benign/Likely benign 307416 rs755586270 12:119617165-119617165 12:119179360-119179360
27 HSPB8 NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln)SNV Benign 307418 rs74740454 12:119631607-119631607 12:119193802-119193802
28 HSPB8 NM_014365.2(HSPB8):c.-193T>CSNV Benign 307414 rs11549401 12:119616925-119616925 12:119179120-119179120
29 HSPB8 NM_014365.2(HSPB8):c.*440C>GSNV Benign 307421 rs13378054 12:119632103-119632103 12:119194298-119194298
30 HSPB8 NM_014365.2(HSPB8):c.*616C>GSNV Benign 307424 rs6413487 12:119632279-119632279 12:119194474-119194474
31 HSPB8 NM_014365.2(HSPB8):c.*644A>GSNV Benign 307426 rs11038 12:119632307-119632307 12:119194502-119194502
32 HSPB8 NM_014365.2(HSPB8):c.552C>T (p.Asn184=)SNV Benign 307419 rs112052602 12:119631624-119631624 12:119193819-119193819
33 HSPB8 NM_014365.2(HSPB8):c.*581G>ASNV Benign 307423 rs56754798 12:119632244-119632244 12:119194439-119194439
34 HSPB8 NM_014365.2(HSPB8):c.*616C>TSNV Benign 307425 rs6413487 12:119632279-119632279 12:119194474-119194474
35 HSPB8 NM_014365.2(HSPB8):c.*684G>ASNV Benign 307428 rs1133026 12:119632347-119632347 12:119194542-119194542
36 HSPB8 NM_014365.2(HSPB8):c.-457A>GSNV Benign 307411 rs564088535 12:119616661-119616661 12:119178856-119178856
37 HSPB8 NM_014365.2(HSPB8):c.402T>C (p.Ile134=)SNV Benign 260402 rs56323028 12:119624864-119624864 12:119187059-119187059
38 HSPB8 NM_014365.2(HSPB8):c.582C>T (p.Thr194=)SNV Benign 260403 rs4628742 12:119631654-119631654 12:119193849-119193849

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

73
# Symbol AA change Variation ID SNP ID
1 HSPB8 p.Lys141Glu VAR_018504 rs104894351
2 HSPB8 p.Lys141Asn VAR_018505 rs104894345
3 HSPB8 p.Pro90Leu VAR_078133
4 HSPB8 p.Asn138Thr VAR_078134
5 HSPB8 p.Lys141Met VAR_078135

Expression for Neuronopathy, Distal Hereditary Motor, Type Iia

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Iia

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Iia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.17 INSC HSPB9 HSPB8 HSPB6 CRYAA CCDC78

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction development GO:0007528 8.62 MUSK ALS2

Molecular functions related to Neuronopathy, Distal Hereditary Motor, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 unfolded protein binding GO:0051082 8.96 HSPB6 CRYAA
2 structural constituent of eye lens GO:0005212 8.62 HSPB6 CRYAA

Sources for Neuronopathy, Distal Hereditary Motor, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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