HMN2D
MCID: NRN026
MIFTS: 29

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 57 70
Hmn Iid 57 12 72
Hmn2d 57 12 72
Distal Hereditary Motor Neuronopathy Type 2d 12 15
Distal Hereditary Motor Neuropathy Type Iid 12 72
Distal Hereditary Motor Neuronopathy 2d 29 6
Dhmn2d 57 72
Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant 57
Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant 72
Neuropathy, Distal Hereditary Motor, Type Iid; Dhmn2d 57
Distal Spinal Muscular Atrophy with Calf Predominance 12
Neuropathy, Motor, Distal, Hereditary, Type 2d 39
Neuropathy, Distal Hereditary Motor, Type Iid 57
Neuronopathy, Distal Hereditary Motor, 2d 72
Dhmn Iid 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111210
OMIM® 57 615575
MeSH 44 D009134
UMLS 70 C3888271

Summaries for Neuronopathy, Distal Hereditary Motor, Type Iid

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Iid, also known as hmn iid, is related to distal hereditary motor neuronopathy type 2 and spinal muscular atrophy, 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

Disease Ontology : 12 A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in FBXO38 on 5q32.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 occasional (7.5%) HP:0001761
2 decreased motor nerve conduction velocity 31 very rare (1%) HP:0003431
3 proximal muscle weakness 31 very rare (1%) HP:0003701
4 decreased achilles reflex 31 very rare (1%) HP:0009072
5 fasciculations 31 HP:0002380
6 difficulty walking 31 HP:0002355
7 muscle spasm 31 HP:0003394
8 emg: chronic denervation signs 31 HP:0003444
9 lower limb muscle weakness 31 HP:0007340
10 lower limb amyotrophy 31 HP:0007210
11 difficulty running 31 HP:0009046
12 triceps weakness 31 HP:0031108
13 weakness of the intrinsic hand muscles 31 HP:0009005
14 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
difficulty walking
difficulty running
upper limb weakness
denervation seen on emg
lower limbs weakness and atrophy, distal
more
Skeletal Hands:
weakness of the intrinsic hand muscles

Muscle Soft Tissue:
triceps weakness
muscle cramps
fasciculation
neurogenic atrophy seen on muscle biopsy
limb muscle weakness and atrophy, distal, neurogenic
more
Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM®:

615575 (Updated 20-May-2021)

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 29 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 PMID Year
1
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. 6 57 61
24207122 2013
2
Autosomal dominant distal spinal muscular atrophy in four generations. 6 57
7723957 1995

Variations for Neuronopathy, Distal Hereditary Motor, Type Iid

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

6 (show top 50) (show all 187)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXO38 NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg) SNV Pathogenic 91854 rs398122838 GRCh37: 5:147784271-147784271
GRCh38: 5:148404708-148404708
2 FBXO38 NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln) SNV Conflicting interpretations of pathogenicity 656377 rs376255193 GRCh37: 5:147796726-147796726
GRCh38: 5:148417163-148417163
3 FBXO38 NM_205836.3(FBXO38):c.712G>A (p.Val238Ile) SNV Uncertain significance 658578 rs144890577 GRCh37: 5:147784367-147784367
GRCh38: 5:148404804-148404804
4 FBXO38 NM_205836.3(FBXO38):c.1418G>A (p.Arg473Gln) SNV Uncertain significance 659343 rs770228743 GRCh37: 5:147796567-147796567
GRCh38: 5:148417004-148417004
5 FBXO38 NM_205836.3(FBXO38):c.633G>C (p.Arg211Ser) SNV Uncertain significance 661131 rs779718633 GRCh37: 5:147784288-147784288
GRCh38: 5:148404725-148404725
6 FBXO38 NM_205836.3(FBXO38):c.1996G>A (p.Glu666Lys) SNV Uncertain significance 661268 rs770649145 GRCh37: 5:147806853-147806853
GRCh38: 5:148427290-148427290
7 FBXO38 NM_205836.3(FBXO38):c.2689C>T (p.Arg897Trp) SNV Uncertain significance 661365 rs138967647 GRCh37: 5:147813022-147813022
GRCh38: 5:148433459-148433459
8 FBXO38 NM_205836.3(FBXO38):c.2402G>T (p.Arg801Leu) SNV Uncertain significance 661418 rs751618541 GRCh37: 5:147807259-147807259
GRCh38: 5:148427696-148427696
9 FBXO38 NM_205836.3(FBXO38):c.679A>C (p.Lys227Gln) SNV Uncertain significance 665063 rs1581241597 GRCh37: 5:147784334-147784334
GRCh38: 5:148404771-148404771
10 FBXO38 NM_205836.3(FBXO38):c.1117G>A (p.Val373Met) SNV Uncertain significance 665522 rs201279960 GRCh37: 5:147793722-147793722
GRCh38: 5:148414159-148414159
11 FBXO38 NM_205836.3(FBXO38):c.2176G>A (p.Asp726Asn) SNV Uncertain significance 541023 rs548894296 GRCh37: 5:147807033-147807033
GRCh38: 5:148427470-148427470
12 FBXO38 NM_205836.3(FBXO38):c.1310G>T (p.Cys437Phe) SNV Uncertain significance 541022 rs1554080351 GRCh37: 5:147795536-147795536
GRCh38: 5:148415973-148415973
13 FBXO38 NM_205836.3(FBXO38):c.1618G>A (p.Ala540Thr) SNV Uncertain significance 541021 rs779438870 GRCh37: 5:147796767-147796767
GRCh38: 5:148417204-148417204
14 FBXO38 NM_205836.3(FBXO38):c.962+3A>G SNV Uncertain significance 541020 rs779258103 GRCh37: 5:147788783-147788783
GRCh38: 5:148409220-148409220
15 FBXO38 NM_205836.3(FBXO38):c.1791T>G (p.Asp597Glu) SNV Uncertain significance 541019 rs1554081566 GRCh37: 5:147805137-147805137
GRCh38: 5:148425574-148425574
16 FBXO38 NM_205836.3(FBXO38):c.2801A>G (p.Asn934Ser) SNV Uncertain significance 541018 rs1463668452 GRCh37: 5:147813244-147813244
GRCh38: 5:148433681-148433681
17 FBXO38 NM_205836.3(FBXO38):c.3428C>T (p.Ala1143Val) SNV Uncertain significance 541017 rs1554083508 GRCh37: 5:147821571-147821571
GRCh38: 5:148442008-148442008
18 FBXO38 NM_205836.3(FBXO38):c.2189C>T (p.Thr730Met) SNV Uncertain significance 541016 rs767223993 GRCh37: 5:147807046-147807046
GRCh38: 5:148427483-148427483
19 FBXO38 NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) SNV Uncertain significance 541015 rs148337492 GRCh37: 5:147774350-147774350
GRCh38: 5:148394787-148394787
20 FBXO38 NM_205836.3(FBXO38):c.1757G>C (p.Arg586Pro) SNV Uncertain significance 541014 rs369833842 GRCh37: 5:147805103-147805103
GRCh38: 5:148425540-148425540
21 FBXO38 NM_205836.3(FBXO38):c.3163A>G (p.Ile1055Val) SNV Uncertain significance 541013 rs1399229383 GRCh37: 5:147819348-147819348
GRCh38: 5:148439785-148439785
22 FBXO38 NM_205836.3(FBXO38):c.2755G>A (p.Val919Ile) SNV Uncertain significance 541012 rs1554082512 GRCh37: 5:147813198-147813198
GRCh38: 5:148433635-148433635
23 FBXO38 NM_205836.3(FBXO38):c.1093+2T>A SNV Uncertain significance 541011 rs1554079701 GRCh37: 5:147790330-147790330
GRCh38: 5:148410767-148410767
24 FBXO38 NM_205836.3(FBXO38):c.2423C>T (p.Pro808Leu) SNV Uncertain significance 541010 rs757209133 GRCh37: 5:147807280-147807280
GRCh38: 5:148427717-148427717
25 FBXO38 NM_205836.3(FBXO38):c.712G>C (p.Val238Leu) SNV Uncertain significance 541009 rs144890577 GRCh37: 5:147784367-147784367
GRCh38: 5:148404804-148404804
26 FBXO38 NM_205836.3(FBXO38):c.1154G>T (p.Gly385Val) SNV Uncertain significance 541008 rs1554080059 GRCh37: 5:147793759-147793759
GRCh38: 5:148414196-148414196
27 FBXO38 NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) SNV Uncertain significance 541007 rs149713669 GRCh37: 5:147820774-147820774
GRCh38: 5:148441211-148441211
28 FBXO38 NM_205836.3(FBXO38):c.3218A>T (p.Glu1073Val) SNV Uncertain significance 654153 rs1581313648 GRCh37: 5:147820034-147820034
GRCh38: 5:148440471-148440471
29 FBXO38 NM_205836.3(FBXO38):c.3047A>G (p.Gln1016Arg) SNV Uncertain significance 655168 rs1020465041 GRCh37: 5:147819232-147819232
GRCh38: 5:148439669-148439669
30 FBXO38 NM_205836.3(FBXO38):c.771C>T (p.Gly257=) SNV Uncertain significance 656054 rs1581244170 GRCh37: 5:147785860-147785860
GRCh38: 5:148406297-148406297
31 FBXO38 NM_205836.3(FBXO38):c.1829A>C (p.Gln610Pro) SNV Uncertain significance 541006 rs771845635 GRCh37: 5:147805175-147805175
GRCh38: 5:148425612-148425612
32 FBXO38 NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter) SNV Uncertain significance 565670 rs1306910725 GRCh37: 5:147781619-147781619
GRCh38: 5:148402056-148402056
33 FBXO38 NM_205836.3(FBXO38):c.3471G>A (p.Met1157Ile) SNV Uncertain significance 565927 rs764469305 GRCh37: 5:147821614-147821614
GRCh38: 5:148442051-148442051
34 FBXO38 NM_205836.3(FBXO38):c.2212G>A (p.Glu738Lys) SNV Uncertain significance 566193 rs141211499 GRCh37: 5:147807069-147807069
GRCh38: 5:148427506-148427506
35 FBXO38 NM_205836.3(FBXO38):c.2905A>G (p.Ile969Val) SNV Uncertain significance 567974 rs373620719 GRCh37: 5:147817942-147817942
GRCh38: 5:148438379-148438379
36 FBXO38 NM_205836.3(FBXO38):c.2201G>A (p.Gly734Asp) SNV Uncertain significance 568649 rs745545823 GRCh37: 5:147807058-147807058
GRCh38: 5:148427495-148427495
37 FBXO38 NM_205836.3(FBXO38):c.340T>C (p.Tyr114His) SNV Uncertain significance 572073 rs144375164 GRCh37: 5:147781622-147781622
GRCh38: 5:148402059-148402059
38 FBXO38 NM_205836.3(FBXO38):c.1759G>A (p.Val587Ile) SNV Uncertain significance 572167 rs553996394 GRCh37: 5:147805105-147805105
GRCh38: 5:148425542-148425542
39 FBXO38 NM_205836.3(FBXO38):c.2898T>G (p.Asn966Lys) SNV Uncertain significance 573264 rs148580014 GRCh37: 5:147817935-147817935
GRCh38: 5:148438372-148438372
40 FBXO38 NM_205836.3(FBXO38):c.1858C>T (p.Arg620Trp) SNV Uncertain significance 574620 rs539397614 GRCh37: 5:147805204-147805204
GRCh38: 5:148425641-148425641
41 FBXO38 NM_205836.3(FBXO38):c.2675G>A (p.Arg892His) SNV Uncertain significance 574698 rs183483408 GRCh37: 5:147813008-147813008
GRCh38: 5:148433445-148433445
42 FBXO38 NM_205836.3(FBXO38):c.2995C>T (p.Arg999Cys) SNV Uncertain significance 574754 rs760782381 GRCh37: 5:147818032-147818032
GRCh38: 5:148438469-148438469
43 FBXO38 NM_205836.3(FBXO38):c.1705A>G (p.Ile569Val) SNV Uncertain significance 575466 rs772345898 GRCh37: 5:147803647-147803647
GRCh38: 5:148424084-148424084
44 FBXO38 NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val) SNV Uncertain significance 576603 rs550138374 GRCh37: 5:147821582-147821582
GRCh38: 5:148442019-148442019
45 FBXO38 NM_205836.3(FBXO38):c.1471A>C (p.Asn491His) SNV Uncertain significance 577289 rs1561531225 GRCh37: 5:147796620-147796620
GRCh38: 5:148417057-148417057
46 FBXO38 NM_205836.3(FBXO38):c.1329C>A (p.Asp443Glu) SNV Uncertain significance 578320 rs770394960 GRCh37: 5:147795555-147795555
GRCh38: 5:148415992-148415992
47 FBXO38 NM_205836.3(FBXO38):c.2257T>G (p.Ser753Ala) SNV Uncertain significance 578405 rs1188977922 GRCh37: 5:147807114-147807114
GRCh38: 5:148427551-148427551
48 FBXO38 NM_205836.3(FBXO38):c.1968G>T (p.Gln656His) SNV Uncertain significance 580127 rs370471937 GRCh37: 5:147806825-147806825
GRCh38: 5:148427262-148427262
49 FBXO38 NM_205836.3(FBXO38):c.3536A>G (p.Asn1179Ser) SNV Uncertain significance 581498 rs373082610 GRCh37: 5:147821679-147821679
GRCh38: 5:148442116-148442116
50 FBXO38 NM_205836.3(FBXO38):c.2889G>C (p.Lys963Asn) SNV Uncertain significance 581512 rs371555180 GRCh37: 5:147817926-147817926
GRCh38: 5:148438363-148438363

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

72
# Symbol AA change Variation ID SNP ID
1 FBXO38 p.Cys206Arg VAR_070923 rs398122838

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
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10 dbSNP
11 DGIdb
17 EFO
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29 GTR
30 HMDB
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32 ICD10
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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