MCID: ATS237
MIFTS: 24

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

MalaCards integrated aliases for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy:

Name: Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 58
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy 58
Smaled 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant childhood-onset proximal spinal muscular atrophy
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.1
UMLS via Orphanet 72 C1834690
Orphanet 58 ORPHA363447

Summaries for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

MalaCards based summary : Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy, also known as lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, is related to spinal muscular atrophy with lower extremity predominance and spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant. An important gene associated with Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy is BICD2 (BICD Cargo Adaptor 2), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skeletal muscle.

Related Diseases for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Graphical network of the top 20 diseases related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy:



Diseases related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

Symptoms & Phenotypes for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Drugs & Therapeutics for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

Genetic Tests for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Anatomical Context for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

MalaCards organs/tissues related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy:

40
Skeletal Muscle

Publications for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Articles related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy:

(show all 23)
# Title Authors PMID Year
1
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. 6
28635954 2017
2
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. 6
27784775 2016
3
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. 6
23664120 2013
4
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. 6
23664119 2013
5
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. 6
23664116 2013
6
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 6
22847149 2012
7
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. 6
22628388 2012
8
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 6
22459677 2012
9
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 6
21820100 2011
10
A cytoplasmic dynein tail mutation impairs motor processivity. 6
21102439 2010
11
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. 6
20697106 2010
12
Mutations in dynein link motor neuron degeneration to defects in retrograde transport. 6
12730604 2003
13
Congenital autosomal dominant distal spinal muscular atrophy. 6
9713859 1998
14
Dominant congenital benign spinal muscular atrophy. 6
8114789 1994
15
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. 61
32788638 2020
16
SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype. 61
32709491 2020
17
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality. 61
30122514 2018
18
An in-frame deletion in BICD2 associated with a non-progressive form of SMALED. 61
29353221 2018
19
A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. 61
29306600 2018
20
Expanding the phenotypic spectrum associated with mutations of DYNC1H1. 61
28554554 2017
21
DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes. 61
28196890 2017
22
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. 61
26998597 2016
23
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance. 61
27066557 2015

Variations for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

ClinVar genetic disease variations for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy:

6 (show top 50) (show all 238)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1H1 NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu) SNV Pathogenic 30033 rs387906742 14:102452573-102452573 14:101986236-101986236
2 DYNC1H1 NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys) SNV Pathogenic 30034 rs387906743 14:102457904-102457904 14:101991567-101991567
3 DYNC1H1 NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser) SNV Pathogenic 180211 rs727505393 14:102463410-102463410 14:101997073-101997073
4 BICD2 NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) SNV Pathogenic 55859 rs398123029 9:95484981-95484981 9:92722699-92722699
5 BICD2 NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) SNV Pathogenic 55860 rs398123030 9:95477683-95477683 9:92715401-92715401
6 BICD2 NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) SNV Pathogenic 55861 rs398123031 9:95481404-95481404 9:92719122-92719122
7 BICD2 NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) SNV Pathogenic 55862 rs398123032 9:95481425-95481425 9:92719143-92719143
8 DYNC1H1 NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) SNV Pathogenic 372934 rs1057518083 14:102452889-102452889 14:101986552-101986552
9 DYNC1H1 NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu) SNV Pathogenic 30032 rs387906741 14:102452312-102452312 14:101985975-101985975
10 BICD2 NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) SNV Pathogenic 55857 rs398123028 9:95491439-95491439 9:92729157-92729157
11 DYNC1H1 NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) SNV Pathogenic 139652 rs587780564 14:102452354-102452354 14:101986017-101986017
12 DYNC1H1 NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) SNV Pathogenic 139652 rs587780564 14:102452354-102452354 14:101986017-101986017
13 BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) SNV Pathogenic 637067 rs1587667544 9:95480098-95480098 9:92717816-92717816
14 DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) SNV Pathogenic 30029 rs387906738 14:102446843-102446843 14:101980506-101980506
15 DYNC1H1 NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly) SNV Likely pathogenic 637515 rs1595599240 14:102449589-102449589 14:101983252-101983252
16 BICD2 NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) SNV Likely pathogenic 210526 rs797045412 9:95480847-95480847 9:92718565-92718565
17 BICD2 NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) SNV Likely pathogenic 55858 rs371707778 9:95480229-95480229 9:92717947-92717947
18 BICD2 NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser) SNV Likely pathogenic 647320 rs1587668748 9:95481260-95481260 9:92718978-92718978
19 BICD2 NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) SNV Likely pathogenic 802490 rs1445290655 9:95481063-95481063 9:92718781-92718781
20 BICD2 NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del) Deletion Likely pathogenic 982816 9:95480135-95480137 9:92717853-92717855
21 DYNC1H1 NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) SNV Likely pathogenic 373213 rs1057518287 14:102474582-102474582 14:102008245-102008245
22 BICD2 NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro) SNV Likely pathogenic 807551 rs1263279945 9:95481254-95481254 9:92718972-92718972
23 DYNC1H1 NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) SNV Likely pathogenic 873447 14:102461023-102461023 14:101994686-101994686
24 BICD2 NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys) SNV Likely pathogenic 862389 9:95481260-95481260 9:92718978-92718978
25 BICD2 NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) SNV Likely pathogenic 916026 9:95485060-95485060 9:92722778-92722778
26 BICD2 NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg) SNV Likely pathogenic 648279 rs1587668077 9:95480822-95480822 9:92718540-92718540
27 BICD2 NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp) SNV Likely pathogenic 650473 rs1587668769 9:95481294-95481294 9:92719012-92719012
28 BICD2 NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) SNV Conflicting interpretations of pathogenicity 155729 rs587777885 9:95480934-95480934 9:92718652-92718652
29 DYNC1H1 NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) SNV Uncertain significance 516911 rs35092963 14:102452938-102452938 14:101986601-101986601
30 BICD2 NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg) SNV Uncertain significance 424684 rs1367809298 9:95482883-95482883 9:92720601-92720601
31 DYNC1H1 NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) SNV Uncertain significance 210873 rs140841480 14:102476187-102476187 14:102009850-102009850
32 BICD2 NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu) SNV Uncertain significance 639270 rs767226677 9:95481864-95481864 9:92719582-92719582
33 BICD2 NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) SNV Uncertain significance 439434 rs140188204 9:95481489-95481489 9:92719207-92719207
34 BICD2 NM_001003800.2(BICD2):c.485G>A (p.Arg162His) SNV Uncertain significance 565772 rs761506224 9:95485059-95485059 9:92722777-92722777
35 BICD2 NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu) SNV Uncertain significance 567197 rs768524403 9:95477539-95477539 9:92715257-92715257
36 BICD2 NM_001003800.2(BICD2):c.1582G>A (p.Val528Met) SNV Uncertain significance 570088 rs908773556 9:95481345-95481345 9:92719063-92719063
37 BICD2 NM_001003800.2(BICD2):c.1400A>G (p.His467Arg) SNV Uncertain significance 572339 rs1564060261 9:95481527-95481527 9:92719245-92719245
38 BICD2 NM_001003800.2(BICD2):c.809C>T (p.Ser270Phe) SNV Uncertain significance 573674 rs375710311 9:95482835-95482835 9:92720553-92720553
39 BICD2 NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del) Deletion Uncertain significance 575432 rs1333312158 9:95481201-95481218 9:92718919-92718936
40 BICD2 NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys) SNV Uncertain significance 578676 rs144944522 9:95477657-95477657 9:92715375-92715375
41 BICD2 NM_001003800.2(BICD2):c.1637A>G (p.Asn546Ser) SNV Uncertain significance 579488 rs1370503586 9:95481290-95481290 9:92719008-92719008
42 BICD2 NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser) SNV Uncertain significance 582447 rs754018322 9:95481278-95481278 9:92718996-92718996
43 DYNC1H1 NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) SNV Uncertain significance 539761 rs199692678 14:102515818-102515818 14:102049481-102049481
44 DYNC1H1 NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) SNV Uncertain significance 625933 rs114906811 14:102508439-102508439 14:102042102-102042102
45 BICD2 NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu) Indel Uncertain significance 644243 rs1587668960 9:95481448-95481449 9:92719166-92719167
46 BICD2 NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del) Microsatellite Uncertain significance 969431 9:95527000-95527002 9:92764718-92764720
47 DYNC1H1 NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) SNV Uncertain significance 565727 rs1567017825 14:102496014-102496014 14:102029677-102029677
48 BICD2 NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) SNV Uncertain significance 439432 rs777065935 9:95481551-95481551 9:92719269-92719269
49 DYNC1H1 NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) SNV Uncertain significance 210882 rs797045535 14:102483494-102483494 14:102017157-102017157
50 BICD2 NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) SNV Uncertain significance 453157 rs755962512 9:95483006-95483006 9:92720724-92720724

Expression for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Search GEO for disease gene expression data for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy.

Pathways for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Pathways related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 DYNC1H1 BICD2
2 10.07 DYNC1H1 BICD2

GO Terms for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

Cellular components related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 8.62 DYNC1H1 BICD2

Biological processes related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 8.62 DYNC1H1 BICD2

Molecular functions related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 8.62 DYNC1H1 BICD2

Sources for Autosomal Dominant Childhood-Onset Proximal Spinal Muscular...

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
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44 MeSH
45 MESH via Orphanet
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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