HMN2D
MCID: NRN026
MIFTS: 22

Neuronopathy, Distal Hereditary Motor, Type Iid (HMN2D)

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

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

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

Name: Neuronopathy, Distal Hereditary Motor, Type Iid 58 74
Distal Hereditary Motor Neuronopathy 2d 30 6
Hmn Iid 58 76
Dhmn2d 58 76
Hmn2d 58 76
Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant 58
Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant 76
Neuropathy, Distal Hereditary Motor, Type Iid; Dhmn2d 58
Neuropathy, Motor, Distal, Hereditary, Type 2d 41
Neuropathy, Distal Hereditary Motor, Type Iid 58
Distal Hereditary Motor Neuropathy Type Iid 76
Neuronopathy, Distal Hereditary Motor, 2d 76
Dhmn Iid 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
most patients remain ambulatory
onset in second to fourth decade
characterized by calf weakness at onset


HPO:

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


Classifications:



Summaries for Neuronopathy, Distal Hereditary Motor, Type Iid

OMIM : 58 Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; 182960). (615575)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Iid, is also known as distal hereditary motor neuronopathy 2d, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Iid is FBXO38 (F-Box Protein 38). Related phenotypes are pes cavus and decreased motor nerve conduction velocity

UniProtKB/Swiss-Prot : 76 Neuronopathy, distal hereditary motor, 2D: A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal.

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Iid

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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 occasional (7.5%) HP:0001761
2 decreased motor nerve conduction velocity 33 very rare (1%) HP:0003431
3 proximal muscle weakness 33 very rare (1%) HP:0003701
4 decreased achilles reflex 33 very rare (1%) HP:0009072
5 fasciculations 33 HP:0002380
6 difficulty walking 33 HP:0002355
7 lower limb muscle weakness 33 HP:0007340
8 difficulty running 33 HP:0009046
9 weakness of the intrinsic hand muscles 33 HP:0009005
10 lower limb amyotrophy 33 HP:0007210
11 spinal muscular atrophy 33 HP:0007269
12 emg: chronic denervation signs 33 HP:0003444
13 triceps weakness 33 HP:0031108
14 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle cramps
triceps weakness
fasciculation
neurogenic atrophy seen on muscle biopsy
limb muscle weakness and atrophy, distal, neurogenic
more
Skeletal Hands:
weakness of the intrinsic hand muscles

Neurologic Central Nervous System:
difficulty walking
difficulty running
upper limb weakness
denervation seen on emg
lower limbs weakness and atrophy, distal
more
Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM:

615575

UMLS symptoms related to Neuronopathy, Distal Hereditary Motor, Type Iid:


muscular fasciculation, muscle cramp

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

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

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Iid

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

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy 2d 30 FBXO38

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Iid

Publications for Neuronopathy, Distal Hereditary Motor, Type Iid

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

# Title Authors Year
1
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. ( 24207122 )
2013
2
Autosomal dominant distal spinal muscular atrophy in four generations. ( 7723957 )
1995

Variations for Neuronopathy, Distal Hereditary Motor, Type Iid

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

76
# Symbol AA change Variation ID SNP ID
1 FBXO38 p.Cys206Arg VAR_070923 rs398122838

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

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXO38 NM_030793.4(FBXO38): c.616T> C (p.Cys206Arg) single nucleotide variant Pathogenic rs398122838 GRCh37 Chromosome 5, 147784271: 147784271
2 FBXO38 NM_030793.4(FBXO38): c.616T> C (p.Cys206Arg) single nucleotide variant Pathogenic rs398122838 GRCh38 Chromosome 5, 148404708: 148404708
3 FBXO38 NM_030793.4(FBXO38): c.561A> G (p.Ile187Met) single nucleotide variant Uncertain significance rs750935580 GRCh37 Chromosome 5, 147782045: 147782045
4 FBXO38 NM_030793.4(FBXO38): c.561A> G (p.Ile187Met) single nucleotide variant Uncertain significance rs750935580 GRCh38 Chromosome 5, 148402482: 148402482
5 FBXO38 NM_030793.4(FBXO38): c.1394G> A (p.Arg465His) single nucleotide variant Benign rs200187682 GRCh37 Chromosome 5, 147795620: 147795620
6 FBXO38 NM_030793.4(FBXO38): c.1394G> A (p.Arg465His) single nucleotide variant Benign rs200187682 GRCh38 Chromosome 5, 148416057: 148416057
7 FBXO38 NM_030793.4(FBXO38): c.87T> C (p.Tyr29=) single nucleotide variant Benign rs77480566 GRCh38 Chromosome 5, 148394863: 148394863
8 FBXO38 NM_030793.4(FBXO38): c.87T> C (p.Tyr29=) single nucleotide variant Benign rs77480566 GRCh37 Chromosome 5, 147774426: 147774426
9 FBXO38 NM_030793.4(FBXO38): c.198A> G (p.Leu66=) single nucleotide variant Benign rs74863106 GRCh38 Chromosome 5, 148399068: 148399068
10 FBXO38 NM_030793.4(FBXO38): c.198A> G (p.Leu66=) single nucleotide variant Benign rs74863106 GRCh37 Chromosome 5, 147778631: 147778631
11 FBXO38 NM_030793.4(FBXO38): c.2341C> T (p.Pro781Ser) single nucleotide variant Likely benign rs116266000 GRCh37 Chromosome 5, 147807198: 147807198
12 FBXO38 NM_030793.4(FBXO38): c.2341C> T (p.Pro781Ser) single nucleotide variant Likely benign rs116266000 GRCh38 Chromosome 5, 148427635: 148427635
13 FBXO38 NM_030793.4(FBXO38): c.239G> A (p.Arg80Gln) single nucleotide variant Uncertain significance rs751167811 GRCh38 Chromosome 5, 148399109: 148399109
14 FBXO38 NM_030793.4(FBXO38): c.239G> A (p.Arg80Gln) single nucleotide variant Uncertain significance rs751167811 GRCh37 Chromosome 5, 147778672: 147778672
15 FBXO38 NM_030793.4(FBXO38): c.1110G> A (p.Ala370=) single nucleotide variant Likely benign rs768439318 GRCh38 Chromosome 5, 148414152: 148414152
16 FBXO38 NM_030793.4(FBXO38): c.1110G> A (p.Ala370=) single nucleotide variant Likely benign rs768439318 GRCh37 Chromosome 5, 147793715: 147793715
17 FBXO38 NM_030793.4(FBXO38): c.1862G> A (p.Arg621His) single nucleotide variant Uncertain significance rs199901955 GRCh38 Chromosome 5, 148425645: 148425645
18 FBXO38 NM_030793.4(FBXO38): c.1862G> A (p.Arg621His) single nucleotide variant Uncertain significance rs199901955 GRCh37 Chromosome 5, 147805208: 147805208
19 FBXO38 NM_030793.4(FBXO38): c.2455G> A (p.Ala819Thr) single nucleotide variant Benign rs11949133 GRCh38 Chromosome 5, 148433450: 148433450
20 FBXO38 NM_030793.4(FBXO38): c.2455G> A (p.Ala819Thr) single nucleotide variant Benign rs11949133 GRCh37 Chromosome 5, 147813013: 147813013
21 FBXO38 NM_030793.4(FBXO38): c.3322G> A (p.Val1108Ile) single nucleotide variant Likely benign rs143682696 GRCh37 Chromosome 5, 147821690: 147821690
22 FBXO38 NM_030793.4(FBXO38): c.3322G> A (p.Val1108Ile) single nucleotide variant Likely benign rs143682696 GRCh38 Chromosome 5, 148442127: 148442127
23 FBXO38 NM_030793.4(FBXO38): c.781G> A (p.Ala261Thr) single nucleotide variant Uncertain significance rs760815624 GRCh38 Chromosome 5, 148406307: 148406307
24 FBXO38 NM_030793.4(FBXO38): c.781G> A (p.Ala261Thr) single nucleotide variant Uncertain significance rs760815624 GRCh37 Chromosome 5, 147785870: 147785870
25 FBXO38 NM_030793.4(FBXO38): c.1265-7T> C single nucleotide variant Likely benign rs888571837 GRCh37 Chromosome 5, 147795484: 147795484
26 FBXO38 NM_030793.4(FBXO38): c.1265-7T> C single nucleotide variant Likely benign rs888571837 GRCh38 Chromosome 5, 148415921: 148415921
27 FBXO38 NM_030793.4(FBXO38): c.1834G> A (p.Val612Ile) single nucleotide variant Uncertain significance rs201999494 GRCh38 Chromosome 5, 148425617: 148425617
28 FBXO38 NM_030793.4(FBXO38): c.1834G> A (p.Val612Ile) single nucleotide variant Uncertain significance rs201999494 GRCh37 Chromosome 5, 147805180: 147805180
29 FBXO38 NM_030793.4(FBXO38): c.2146A> G (p.Ser716Gly) single nucleotide variant Likely benign rs150893158 GRCh38 Chromosome 5, 148427440: 148427440
30 FBXO38 NM_030793.4(FBXO38): c.2146A> G (p.Ser716Gly) single nucleotide variant Likely benign rs150893158 GRCh37 Chromosome 5, 147807003: 147807003
31 FBXO38 NM_030793.4(FBXO38): c.2199C> T (p.Ser733=) single nucleotide variant Likely benign rs756876029 GRCh38 Chromosome 5, 148427493: 148427493
32 FBXO38 NM_030793.4(FBXO38): c.2199C> T (p.Ser733=) single nucleotide variant Likely benign rs756876029 GRCh37 Chromosome 5, 147807056: 147807056
33 FBXO38 NM_030793.4(FBXO38): c.2794C> A (p.Gln932Lys) single nucleotide variant Likely benign rs112383068 GRCh38 Chromosome 5, 148438493: 148438493
34 FBXO38 NM_030793.4(FBXO38): c.2794C> A (p.Gln932Lys) single nucleotide variant Likely benign rs112383068 GRCh37 Chromosome 5, 147818056: 147818056
35 FBXO38 NM_030793.4(FBXO38): c.3154G> A (p.Asp1052Asn) single nucleotide variant Uncertain significance rs145662452 GRCh38 Chromosome 5, 148441228: 148441228
36 FBXO38 NM_030793.4(FBXO38): c.3154G> A (p.Asp1052Asn) single nucleotide variant Uncertain significance rs145662452 GRCh37 Chromosome 5, 147820791: 147820791
37 FBXO38 NM_030793.4(FBXO38): c.11G> A (p.Arg4Gln) single nucleotide variant Uncertain significance rs148337492 GRCh37 Chromosome 5, 147774350: 147774350
38 FBXO38 NM_030793.4(FBXO38): c.11G> A (p.Arg4Gln) single nucleotide variant Uncertain significance rs148337492 GRCh38 Chromosome 5, 148394787: 148394787
39 FBXO38 NM_030793.4(FBXO38): c.291A> G (p.Leu97=) single nucleotide variant Likely benign rs1339219934 GRCh37 Chromosome 5, 147781573: 147781573
40 FBXO38 NM_030793.4(FBXO38): c.291A> G (p.Leu97=) single nucleotide variant Likely benign rs1339219934 GRCh38 Chromosome 5, 148402010: 148402010
41 FBXO38 NM_030793.4(FBXO38): c.456A> G (p.Val152=) single nucleotide variant Likely benign rs146162318 GRCh38 Chromosome 5, 148402377: 148402377
42 FBXO38 NM_030793.4(FBXO38): c.456A> G (p.Val152=) single nucleotide variant Likely benign rs146162318 GRCh37 Chromosome 5, 147781940: 147781940
43 FBXO38 NM_030793.4(FBXO38): c.712G> C (p.Val238Leu) single nucleotide variant Uncertain significance rs144890577 GRCh38 Chromosome 5, 148404804: 148404804
44 FBXO38 NM_030793.4(FBXO38): c.712G> C (p.Val238Leu) single nucleotide variant Uncertain significance rs144890577 GRCh37 Chromosome 5, 147784367: 147784367
45 FBXO38 NM_030793.4(FBXO38): c.2202C> T (p.Gly734=) single nucleotide variant Likely benign rs771687051 GRCh38 Chromosome 5, 148427496: 148427496
46 FBXO38 NM_030793.4(FBXO38): c.2202C> T (p.Gly734=) single nucleotide variant Likely benign rs771687051 GRCh37 Chromosome 5, 147807059: 147807059
47 FBXO38 NM_030793.4(FBXO38): c.2678C> G (p.Pro893Arg) single nucleotide variant Uncertain significance rs141168806 GRCh38 Chromosome 5, 148438377: 148438377
48 FBXO38 NM_030793.4(FBXO38): c.2678C> G (p.Pro893Arg) single nucleotide variant Uncertain significance rs141168806 GRCh37 Chromosome 5, 147817940: 147817940
49 FBXO38 NM_030793.4(FBXO38): c.1682A> G (p.Asn561Ser) single nucleotide variant Uncertain significance rs1554081337 GRCh37 Chromosome 5, 147803624: 147803624
50 FBXO38 NM_030793.4(FBXO38): c.1682A> G (p.Asn561Ser) single nucleotide variant Uncertain significance rs1554081337 GRCh38 Chromosome 5, 148424061: 148424061

Expression for Neuronopathy, Distal Hereditary Motor, Type Iid

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

Pathways for Neuronopathy, Distal Hereditary Motor, Type Iid

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Iid

Sources for Neuronopathy, Distal Hereditary Motor, Type Iid

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
Content
Loading form....