HMN2C
MCID: NRN018
MIFTS: 21

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 58 13 74
Distal Hereditary Motor Neuronopathy Type 2c 30 6
Hmn Iic 58 76
Dhmn2c 58 76
Hmn2c 58 76
Neuropathy, Distal Hereditary Motor, Type Iic; Dhmn2c 58
Neuropathy, Motor, Distal, Hereditary, Type 2c 41
Neuropathy, Distal Hereditary Motor, Type Iic 58
Distal Hereditary Motor Neuropathy Type Iic 76
Neuronopathy, Distal Hereditary Motor, 2c 76
Dhmn Iic 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neuronopathy, distal hereditary motor, type iic:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuronopathy, Distal Hereditary Motor, Type Iic

UniProtKB/Swiss-Prot : 76 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, is also known as distal hereditary motor neuronopathy type 2c. 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

Description from OMIM: 613376

Related Diseases for 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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 33 HP:0003202
2 peripheral neuropathy 33 HP:0009830
3 areflexia of lower limbs 33 HP:0002522
4 difficulty walking 33 HP:0002355
5 lower limb muscle weakness 33 HP:0007340
6 distal lower limb muscle weakness 33 HP:0009053
7 steppage gait 33 HP:0003376
8 distal upper limb muscle weakness 33 HP:0008959
9 emg: neuropathic changes 33 HP:0003445
10 hyporeflexia of lower limbs 33 HP:0002600

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
areflexia of lower limbs
difficulty walking
distal lower limb muscle weakness
steppage gait
distal upper limb muscle weakness
more
Muscle Soft Tissue:
distal lower and upper limb muscle atrophy
atrophy of the intrinsic foot and hand muscles

Clinical features from OMIM:

613376

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 30 HSPB3

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iic

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

42
Spinal Cord, Skeletal Muscle

Publications for Neuronopathy, Distal Hereditary Motor, Type Iic

Variations for Neuronopathy, Distal Hereditary Motor, Type Iic

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

76
# Symbol AA change Variation ID SNP ID
1 HSPB3 p.Arg7Ser VAR_063773 rs139382018

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB3 NM_006308.2(HSPB3): c.21G> T (p.Arg7Ser) single nucleotide variant Likely benign rs139382018 GRCh37 Chromosome 5, 53751640: 53751640
2 HSPB3 NM_006308.2(HSPB3): c.21G> T (p.Arg7Ser) single nucleotide variant Likely benign rs139382018 GRCh38 Chromosome 5, 54455810: 54455810
3 HSPB3 NM_006308.2(HSPB3): c.199G> A (p.Gly67Ser) single nucleotide variant Benign/Likely benign rs35258119 GRCh38 Chromosome 5, 54455988: 54455988
4 HSPB3 NM_006308.2(HSPB3): c.199G> A (p.Gly67Ser) single nucleotide variant Benign/Likely benign rs35258119 GRCh37 Chromosome 5, 53751818: 53751818
5 HSPB3 NM_006308.2(HSPB3): c.369T> C (p.Gly123=) single nucleotide variant Benign rs7823 GRCh38 Chromosome 5, 54456158: 54456158
6 HSPB3 NM_006308.2(HSPB3): c.369T> C (p.Gly123=) single nucleotide variant Benign rs7823 GRCh37 Chromosome 5, 53751988: 53751988
7 HSPB3 NM_006308.2(HSPB3): c.347G> C (p.Arg116Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs150931007 GRCh38 Chromosome 5, 54456136: 54456136
8 HSPB3 NM_006308.2(HSPB3): c.347G> C (p.Arg116Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs150931007 GRCh37 Chromosome 5, 53751966: 53751966
9 HSPB3 NM_006308.2(HSPB3): c.282G> A (p.Leu94=) single nucleotide variant Benign rs7699 GRCh38 Chromosome 5, 54456071: 54456071
10 HSPB3 NM_006308.2(HSPB3): c.282G> A (p.Leu94=) single nucleotide variant Benign rs7699 GRCh37 Chromosome 5, 53751901: 53751901
11 HSPB3 NM_006308.2(HSPB3): c.355A> G (p.Lys119Glu) single nucleotide variant Benign/Likely benign rs41270303 GRCh38 Chromosome 5, 54456144: 54456144
12 HSPB3 NM_006308.2(HSPB3): c.355A> G (p.Lys119Glu) single nucleotide variant Benign/Likely benign rs41270303 GRCh37 Chromosome 5, 53751974: 53751974
13 HSPB3 NM_006308.2(HSPB3): c.347G> A (p.Arg116Gln) single nucleotide variant Benign/Likely benign rs150931007 GRCh38 Chromosome 5, 54456136: 54456136
14 HSPB3 NM_006308.2(HSPB3): c.347G> A (p.Arg116Gln) single nucleotide variant Benign/Likely benign rs150931007 GRCh37 Chromosome 5, 53751966: 53751966
15 HSPB3 NM_006308.2(HSPB3): c.194G> A (p.Arg65Gln) single nucleotide variant Uncertain significance rs371683736 GRCh37 Chromosome 5, 53751813: 53751813
16 HSPB3 NM_006308.2(HSPB3): c.194G> A (p.Arg65Gln) single nucleotide variant Uncertain significance rs371683736 GRCh38 Chromosome 5, 54455983: 54455983
17 HSPB3 NM_006308.2(HSPB3): c.271G> A (p.Glu91Lys) single nucleotide variant Uncertain significance rs147724326 GRCh38 Chromosome 5, 54456060: 54456060
18 HSPB3 NM_006308.2(HSPB3): c.271G> A (p.Glu91Lys) single nucleotide variant Uncertain significance rs147724326 GRCh37 Chromosome 5, 53751890: 53751890
19 HSPB3 NM_006308.2(HSPB3): c.229G> T (p.Val77Leu) single nucleotide variant Uncertain significance rs148535965 GRCh37 Chromosome 5, 53751848: 53751848
20 HSPB3 NM_006308.2(HSPB3): c.229G> T (p.Val77Leu) single nucleotide variant Uncertain significance rs148535965 GRCh38 Chromosome 5, 54456018: 54456018
21 HSPB3 NM_006308.2(HSPB3): c.240C> T (p.Phe80=) single nucleotide variant Likely benign rs760600821 GRCh37 Chromosome 5, 53751859: 53751859
22 HSPB3 NM_006308.2(HSPB3): c.240C> T (p.Phe80=) single nucleotide variant Likely benign rs760600821 GRCh38 Chromosome 5, 54456029: 54456029

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

Sources for Neuronopathy, Distal Hereditary Motor, Type Iic

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