Spinal Muscular Atrophy, Distal, X-Linked 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN188 MIFTS: 23	Spinal Muscular Atrophy, Distal, X-Linked 3 Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Spinal Muscular Atrophy, Distal, X-Linked 3

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, X-Linked 3:

Name: Spinal Muscular Atrophy, Distal, X-Linked 3 ⁵⁷ ¹³ ⁷³

Smax3 ⁵⁷ ⁵⁹ ⁷⁵

Dsmax ⁵⁷ ⁵⁹ ⁷⁵

Distal Spinal Muscular Atrophy, X-Linked 3 ²⁹ ⁶

Spinal Muscular Atrophy, Distal, X-Linked Recessive ⁵⁷

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3 ⁴⁰

X-Linked Distal Hereditary Motor Neuropathy Type 3 ⁵⁹

Spinal Muscular Atrophy Distal X-Linked Recessive ⁷⁵

X-Linked Distal Spinal Muscular Atrophy Type 3 ⁵⁹

Distal Spinal Muscular Atrophy, X-Linked, 3 ⁷⁵

Atp7a-Related Distal Motor Neuropathy ⁵⁹

X-Linked Dhmn3 ⁵⁹

X-Linked Dsma3 ⁵⁹

Dsmax3 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

x-linked distal spinal muscular atrophy type 3
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
x-linked recessive

Miscellaneous:
onset in first decade
slow disease progression
adult onset may also occur
affected individuals remain ambulatory in old age

HPO:

³²

spinal muscular atrophy, distal, x-linked 3:
Onset and clinical course slow progression juvenile onset
Inheritance x-linked recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 300489

Orphanet ⁵⁹ ORPHA139557

ICD10 via Orphanet ³⁴ G12.2

UMLS via Orphanet ⁷⁴ C1845359

MedGen ⁴² C1845359

MeSH ⁴⁴ D009134

SNOMED-CT via HPO ⁶⁹ 302226006 42658009 405946002 more

UMLS ⁷³ C1845359

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Summaries for Spinal Muscular Atrophy, Distal, X-Linked 3

UniProtKB/Swiss-Prot : ⁷⁵ Distal spinal muscular atrophy, X-linked, 3: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents 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 : Spinal Muscular Atrophy, Distal, X-Linked 3, also known as smax3, is related to neuropathy and distal hereditary motor neuropathies. An important gene associated with Spinal Muscular Atrophy, Distal, X-Linked 3 is ATP7A (ATPase Copper Transporting Alpha). Affiliated tissues include spinal cord, and related phenotypes are abnormal peripheral nervous system morphology and hyporeflexia

Description from OMIM: 300489

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Related Diseases for Spinal Muscular Atrophy, Distal, X-Linked 3

Diseases related to Spinal Muscular Atrophy, Distal, X-Linked 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	neuropathy	10.1
2	distal hereditary motor neuropathies	9.9

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Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, X-Linked 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Feet:
pes cavus
pes varus

Neurologic Peripheral Nervous System:
peripheral nerve biopsy is normal
mild distal sensory impairment (in some)

Neurologic Central Nervous System:
hyporeflexia
muscle weakness, distal
gait instability
muscle atrophy, distal
lower limbs affected before upper limbs
more

Clinical features from OMIM:

300489

Human phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:

³² (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	abnormal peripheral nervous system morphology ³²		HP:0000759
2	hyporeflexia ³²		HP:0001265
3	pes cavus ³²		HP:0001761
4	unsteady gait ³²		HP:0002317
5	distal muscle weakness ³²		HP:0002460
6	distal sensory impairment ³²	occasional (7.5%)	HP:0002936
7	emg ³²		HP:0003445
8	distal amyotrophy ³²		HP:0003693
9	spinal muscular atrophy ³²		HP:0007269

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Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, X-Linked 3

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Genetic Tests for Spinal Muscular Atrophy, Distal, X-Linked 3

Genetic tests related to Spinal Muscular Atrophy, Distal, X-Linked 3:

#	Genetic test	Affiliating Genes
1	Distal Spinal Muscular Atrophy, X-Linked 3 ²⁹	ATP7A

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Anatomical Context for Spinal Muscular Atrophy, Distal, X-Linked 3

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, X-Linked 3:

⁴¹

Spinal Cord

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Publications for Spinal Muscular Atrophy, Distal, X-Linked 3

Articles related to Spinal Muscular Atrophy, Distal, X-Linked 3:

#	Title	Authors	Year
1	Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. ( 22210628 )	Yi L....Kaler S.G.	2012

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Genes for Spinal Muscular Atrophy, Distal, X-Linked 3

Genes related to Spinal Muscular Atrophy, Distal, X-Linked 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹	14985388 20170900 20301586 (more) 19153371

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Variations for Spinal Muscular Atrophy, Distal, X-Linked 3

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, X-Linked 3:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ATP7A	p.Thr994Ile	VAR_063882
2	ATP7A	p.Pro1386Ser	VAR_063884

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, X-Linked 3:

⁶

(show top 50) (show all 142)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATP7A	NM_000052.6(ATP7A): c.2981C> T (p.Thr994Ile)	single nucleotide variant	Pathogenic	rs267606673	GRCh37	Chromosome X, 77284811: 77284811
2	ATP7A	NM_000052.6(ATP7A): c.2981C> T (p.Thr994Ile)	single nucleotide variant	Pathogenic	rs267606673	GRCh38	Chromosome X, 78029314: 78029314
3	ATP7A	NM_000052.6(ATP7A): c.4156C> T (p.Pro1386Ser)	single nucleotide variant	Pathogenic	rs267606672	GRCh37	Chromosome X, 77300999: 77300999
4	ATP7A	NM_000052.6(ATP7A): c.4156C> T (p.Pro1386Ser)	single nucleotide variant	Pathogenic	rs267606672	GRCh38	Chromosome X, 78045502: 78045502
5	ATP7A	NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val)	single nucleotide variant	Benign	rs2234938	GRCh37	Chromosome X, 77301954: 77301954
6	ATP7A	NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val)	single nucleotide variant	Benign	rs2234938	GRCh38	Chromosome X, 78046457: 78046457
7	ATP7A	NM_000052.6(ATP7A): c.2070A> G (p.Glu690=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146692150	GRCh37	Chromosome X, 77267069: 77267069
8	ATP7A	NM_000052.6(ATP7A): c.2070A> G (p.Glu690=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146692150	GRCh38	Chromosome X, 78011572: 78011572
9	ATP7A	NM_000052.6(ATP7A): c.565A> G (p.Ile189Val)	single nucleotide variant	Benign	rs2228447	GRCh37	Chromosome X, 77244182: 77244182
10	ATP7A	NM_000052.6(ATP7A): c.565A> G (p.Ile189Val)	single nucleotide variant	Benign	rs2228447	GRCh38	Chromosome X, 77988686: 77988686
11	ATP7A	NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143907597	GRCh37	Chromosome X, 77254154: 77254154
12	ATP7A	NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143907597	GRCh38	Chromosome X, 77998657: 77998657
13	ATP7A	NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala)	single nucleotide variant	Benign/Likely benign	rs201788154	GRCh37	Chromosome X, 77270204: 77270204
14	ATP7A	NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala)	single nucleotide variant	Benign/Likely benign	rs201788154	GRCh38	Chromosome X, 78014707: 78014707
15	ATP7A	NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138958687	GRCh37	Chromosome X, 77276563: 77276563
16	ATP7A	NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138958687	GRCh38	Chromosome X, 78021066: 78021066
17	ATP7A	NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797045365	GRCh38	Chromosome X, 78029335: 78029335
18	ATP7A	NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797045365	GRCh37	Chromosome X, 77284832: 77284832
19	ATP7A	NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val)	single nucleotide variant	Benign/Likely benign	rs139781067	GRCh38	Chromosome X, 78042714: 78042714
20	ATP7A	NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val)	single nucleotide variant	Benign/Likely benign	rs139781067	GRCh37	Chromosome X, 77298212: 77298212
21	ATP7A	NM_000052.6(ATP7A): c.922A> G (p.Ile308Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782351352	GRCh38	Chromosome X, 77989544: 77989544
22	ATP7A	NM_000052.6(ATP7A): c.922A> G (p.Ile308Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782351352	GRCh37	Chromosome X, 77245040: 77245040
23	ATP7A	NM_000052.6(ATP7A): c.2531G> A (p.Arg844His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367775730	GRCh38	Chromosome X, 78015786: 78015786
24	ATP7A	NM_000052.6(ATP7A): c.2531G> A (p.Arg844His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367775730	GRCh37	Chromosome X, 77271283: 77271283
25	ATP7A	NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372489000	GRCh38	Chromosome X, 78042666: 78042666
26	ATP7A	NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372489000	GRCh37	Chromosome X, 77298164: 77298164
27	ATP7A	NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143214563	GRCh37	Chromosome X, 77266954: 77266954
28	ATP7A	NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143214563	GRCh38	Chromosome X, 78011457: 78011457
29	ATP7A	NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146651049	GRCh37	Chromosome X, 77298815: 77298815
30	ATP7A	NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146651049	GRCh38	Chromosome X, 78043317: 78043317
31	ATP7A	NM_000052.6(ATP7A): c.327G> A (p.Lys109=)	single nucleotide variant	Benign	rs61747968	GRCh37	Chromosome X, 77243944: 77243944
32	ATP7A	NM_000052.6(ATP7A): c.327G> A (p.Lys109=)	single nucleotide variant	Benign	rs61747968	GRCh38	Chromosome X, 77988448: 77988448
33	ATP7A	NM_000052.6(ATP7A): c.278C> T (p.Thr93Met)	single nucleotide variant	Uncertain significance	rs539177302	GRCh37	Chromosome X, 77243895: 77243895
34	ATP7A	NM_000052.6(ATP7A): c.278C> T (p.Thr93Met)	single nucleotide variant	Uncertain significance	rs539177302	GRCh38	Chromosome X, 77988399: 77988399
35	ATP7A	NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe)	single nucleotide variant	Likely benign	rs372898963	GRCh37	Chromosome X, 77266696: 77266696
36	ATP7A	NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe)	single nucleotide variant	Likely benign	rs372898963	GRCh38	Chromosome X, 78011199: 78011199
37	ATP7A	NM_000052.6(ATP7A): c.1009G> A (p.Ala337Thr)	single nucleotide variant	Benign/Likely benign	rs138039591	GRCh37	Chromosome X, 77245127: 77245127
38	ATP7A	NM_000052.6(ATP7A): c.1009G> A (p.Ala337Thr)	single nucleotide variant	Benign/Likely benign	rs138039591	GRCh38	Chromosome X, 77989631: 77989631
39	ATP7A	NM_000052.6(ATP7A): c.2353C> A (p.Pro785Thr)	single nucleotide variant	Uncertain significance	rs1057523512	GRCh37	Chromosome X, 77268556: 77268556
40	ATP7A	NM_000052.6(ATP7A): c.2353C> A (p.Pro785Thr)	single nucleotide variant	Uncertain significance	rs1057523512	GRCh38	Chromosome X, 78013059: 78013059
41	ATP7A	NM_000052.6(ATP7A): c.3153C> T (p.His1051=)	single nucleotide variant	Benign/Likely benign	rs142998552	GRCh37	Chromosome X, 77286939: 77286939
42	ATP7A	NM_000052.6(ATP7A): c.3153C> T (p.His1051=)	single nucleotide variant	Benign/Likely benign	rs142998552	GRCh38	Chromosome X, 78031441: 78031441
43	ATP7A	NM_000052.6(ATP7A): c.1597A> G (p.Asn533Asp)	single nucleotide variant	Uncertain significance	rs1057524455	GRCh37	Chromosome X, 77258623: 77258623
44	ATP7A	NM_000052.6(ATP7A): c.1597A> G (p.Asn533Asp)	single nucleotide variant	Uncertain significance	rs1057524455	GRCh38	Chromosome X, 78003126: 78003126
45	ATP7A	NM_000052.6(ATP7A): c.4312G> A (p.Val1438Ile)	single nucleotide variant	Uncertain significance	rs782682493	GRCh38	Chromosome X, 78046379: 78046379
46	ATP7A	NM_000052.6(ATP7A): c.4312G> A (p.Val1438Ile)	single nucleotide variant	Uncertain significance	rs782682493	GRCh37	Chromosome X, 77301876: 77301876
47	ATP7A	NC_000023.10: g.(?_77266653)_(77268629_?)dup	duplication	Uncertain significance		GRCh37	Chromosome X, 77266653: 77268629
48	ATP7A	NM_000052.6(ATP7A): c.1270C> T (p.Leu424=)	single nucleotide variant	Likely benign	rs139000596	GRCh38	Chromosome X, 77989892: 77989892
49	ATP7A	NM_000052.6(ATP7A): c.1270C> T (p.Leu424=)	single nucleotide variant	Likely benign	rs139000596	GRCh37	Chromosome X, 77245388: 77245388
50	ATP7A	NM_000052.6(ATP7A): c.1934G> A (p.Arg645Gln)	single nucleotide variant	Likely benign	rs782729433	GRCh38	Chromosome X, 78011240: 78011240

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Expression for Spinal Muscular Atrophy, Distal, X-Linked 3

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, X-Linked 3.

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Pathways for Spinal Muscular Atrophy, Distal, X-Linked 3

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GO Terms for Spinal Muscular Atrophy, Distal, X-Linked 3

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