Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATS237 MIFTS: 24	Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Other inherited spinal muscular atrophy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G12.1

UMLS via Orphanet ⁷² C1834690

Orphanet ⁵⁸ ORPHA363447

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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.

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

Diseases related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	spinal muscular atrophy with lower extremity predominance	32.0	DYNC1H1 BICD2
2	spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	11.8
3	spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant	11.6
4	autosomal dominant spinal muscular atrophy, lower extremity-predominant 2	11.6
5	spinal muscular atrophy	9.7	DYNC1H1 BICD2
6	muscular atrophy	9.7	DYNC1H1 BICD2
7	mental retardation, autosomal dominant 13	9.7	DYNC1H1 BICD2
8	motor peripheral neuropathy	9.7	DYNC1H1 BICD2
9	neuropathy	9.7	DYNC1H1 BICD2
10	seizure disorder	9.6	DYNC1H1 BICD2
11	motor neuron disease	9.6	DYNC1H1 BICD2
12	charcot-marie-tooth disease	9.5	DYNC1H1 BICD2

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

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

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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

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

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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

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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	Storbeck M...Wirth B	28635954	2017
2	Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. ⁶	Unger A...Vorgerd M	27784775	2016
3	Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. ⁶	Oates EC...Reilly MM	23664120	2013
4	Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. ⁶	Peeters K...Jordanova A	23664119	2013
5	Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. ⁶	Neveling K...Wirth B	23664116	2013
6	A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. ⁶	Tsurusaki Y...Matsumoto N	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	Oates EC...North KN	22628388	2012
8	Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. ⁶	Harms MB...Baloh RH	22459677	2012
9	Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. ⁶	Weedon MN...Ellard S	21820100	2011
10	A cytoplasmic dynein tail mutation impairs motor processivity. ⁶	Ori-McKenney KM...Vallee RB	21102439	2010
11	Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. ⁶	Harms MB...Baloh RH	20697106	2010
12	Mutations in dynein link motor neuron degeneration to defects in retrograde transport. ⁶	Hafezparast M...Fisher EM	12730604	2003
13	Congenital autosomal dominant distal spinal muscular atrophy. ⁶	Adams C...Lowry RB	9713859	1998
14	Dominant congenital benign spinal muscular atrophy. ⁶	Frijns CJ...Jennekens FG	8114789	1994
15	The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. ⁶¹	Becker LL...Cirak S	32788638	2020
16	SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype. ⁶¹	Picher-Martel V...Dionne A	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	Chan SHS...Kamsteeg EJ	30122514	2018
18	An in-frame deletion in BICD2 associated with a non-progressive form of SMALED. ⁶¹	Trimouille A...Goizet C	29353221	2018
19	A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. ⁶¹	Das J...Ealing J	29306600	2018
20	Expanding the phenotypic spectrum associated with mutations of DYNC1H1. ⁶¹	Beecroft SJ...Ravenscroft G	28554554	2017
21	DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes. ⁶¹	Hoang HT...Bullock SL	28196890	2017
22	Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. ⁶¹	Rudnik-Schoneborn S...Zerres K	26998597	2016
23	A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance. ⁶¹	Niu Q...Jin Q	27066557	2015

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

Genes related to Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BICD2	BICD Cargo Adaptor 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	8114789 23664116 23664119 (more) 23664120 22628388 27784775 9713859 28635954
2	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	21820100 22847149 20697106 (more) 22459677 12730604 21102439

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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

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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.

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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	Golgi-to-ER retrograde transport ⁶⁵ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁵ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁵ Kinesins ⁶⁵	11.58	DYNC1H1 BICD2
2	COPI-independent Golgi-to-ER retrograde traffic ⁶⁵	10.07	DYNC1H1 BICD2

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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

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