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

DSMAX3 MCID: SPN188 MIFTS: 24	Spinal Muscular Atrophy, Distal, X-Linked 3 (DSMAX3) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes 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 ⁵⁸ ¹³ ⁷⁴

Smax3 ⁵⁸ ⁶⁰ ⁷⁶

Dsmax ⁵⁸ ⁶⁰ ⁷⁶

Distal Spinal Muscular Atrophy, X-Linked 3 ³⁰ ⁶

Spinal Muscular Atrophy, Distal, X-Linked Recessive ⁵⁸

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3 ⁴¹

X-Linked Distal Hereditary Motor Neuropathy Type 3 ⁶⁰

Spinal Muscular Atrophy Distal X-Linked Recessive ⁷⁶

X-Linked Distal Spinal Muscular Atrophy Type 3 ⁶⁰

Distal Spinal Muscular Atrophy, X-Linked, 3 ⁷⁶

Atp7a-Related Distal Motor Neuropathy ⁶⁰

X-Linked Dhmn3 ⁶⁰

X-Linked Dsma3 ⁶⁰

Dsmax3 ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

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

Inheritance:
x-linked recessive

HPO:

³³

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: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 300489

MeSH ⁴⁵ D009134

ICD10 via Orphanet ³⁵ G12.2

UMLS via Orphanet ⁷⁵ C1845359

Orphanet ⁶⁰ ORPHA139557

MedGen ⁴³ C1845359

SNOMED-CT via HPO ⁷⁰ 205091006 22631008 249942005 more

UMLS ⁷⁴ C1845359

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

UniProtKB/Swiss-Prot : ⁷⁶ 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 charcot-marie-tooth disease, x-linked recessive, 3 and neuropathy. 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 distal sensory impairment and pes cavus

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
1	charcot-marie-tooth disease, x-linked recessive, 3	10.1
2	neuropathy	10.1
3	charcot-marie-tooth hereditary neuropathy	10.1

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

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

³³ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	distal sensory impairment ³³	occasional (7.5%)	HP:0002936
2	pes cavus ³³		HP:0001761
3	hyporeflexia ³³		HP:0001265
4	distal muscle weakness ³³		HP:0002460
5	unsteady gait ³³		HP:0002317
6	distal amyotrophy ³³		HP:0003693
7	emg: neuropathic changes ³³		HP:0003445
8	spinal muscular atrophy ³³		HP:0007269
9	abnormal peripheral nervous system morphology ³³		HP:0000759

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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 ³⁰	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:

⁴²

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 SG	2012
2	Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. ( 20170900 )	Kennerson ML...Garbern JY	2010
3	X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. ( 19153371 )	Kennerson M...Garbern J	2009
4	A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. ( 14985388 )	Takata RI...Zatz M	2004

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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 ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰	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:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	ATP7A	p.Thr994Ile	VAR_063882	rs267606673
2	ATP7A	p.Pro1386Ser	VAR_063884	rs267606672

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

⁶ (show top 50) (show all 176)

#	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.1823A> G (p.Tyr608Cys)	single nucleotide variant	Benign	rs61742278	GRCh37	Chromosome X, 77264714: 77264714
6	ATP7A	NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys)	single nucleotide variant	Benign	rs61742278	GRCh38	Chromosome X, 78009217: 78009217
7	ATP7A	NM_000052.6(ATP7A): c.610+8G> A	single nucleotide variant	Benign	rs144616937	GRCh37	Chromosome X, 77244235: 77244235
8	ATP7A	NM_000052.6(ATP7A): c.610+8G> A	single nucleotide variant	Benign	rs144616937	GRCh38	Chromosome X, 77988739: 77988739
9	ATP7A	NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val)	single nucleotide variant	Benign	rs2234938	GRCh37	Chromosome X, 77301954: 77301954
10	ATP7A	NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val)	single nucleotide variant	Benign	rs2234938	GRCh38	Chromosome X, 78046457: 78046457
11	ATP7A	NM_000052.6(ATP7A): c.2070A> G (p.Glu690=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146692150	GRCh37	Chromosome X, 77267069: 77267069
12	ATP7A	NM_000052.6(ATP7A): c.2070A> G (p.Glu690=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146692150	GRCh38	Chromosome X, 78011572: 78011572
13	ATP7A	NM_000052.6(ATP7A): c.565A> G (p.Ile189Val)	single nucleotide variant	Benign	rs2228447	GRCh37	Chromosome X, 77244182: 77244182
14	ATP7A	NM_000052.6(ATP7A): c.565A> G (p.Ile189Val)	single nucleotide variant	Benign	rs2228447	GRCh38	Chromosome X, 77988686: 77988686
15	ATP7A	NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143907597	GRCh37	Chromosome X, 77254154: 77254154
16	ATP7A	NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143907597	GRCh38	Chromosome X, 77998657: 77998657
17	ATP7A	NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201788154	GRCh37	Chromosome X, 77270204: 77270204
18	ATP7A	NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201788154	GRCh38	Chromosome X, 78014707: 78014707
19	ATP7A	NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138958687	GRCh37	Chromosome X, 77276563: 77276563
20	ATP7A	NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138958687	GRCh38	Chromosome X, 78021066: 78021066
21	ATP7A	NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797045365	GRCh38	Chromosome X, 78029335: 78029335
22	ATP7A	NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797045365	GRCh37	Chromosome X, 77284832: 77284832
23	ATP7A	NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val)	single nucleotide variant	Benign/Likely benign	rs139781067	GRCh38	Chromosome X, 78042714: 78042714
24	ATP7A	NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val)	single nucleotide variant	Benign/Likely benign	rs139781067	GRCh37	Chromosome X, 77298212: 77298212
25	ATP7A	NM_000052.6(ATP7A): c.3863A> G (p.Gln1288Arg)	single nucleotide variant	Uncertain significance	rs375788705	GRCh37	Chromosome X, 77298144: 77298144
26	ATP7A	NM_000052.6(ATP7A): c.3863A> G (p.Gln1288Arg)	single nucleotide variant	Uncertain significance	rs375788705	GRCh38	Chromosome X, 78042646: 78042646
27	ATP7A	NM_000052.6(ATP7A): c.922A> G (p.Ile308Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782351352	GRCh38	Chromosome X, 77989544: 77989544
28	ATP7A	NM_000052.6(ATP7A): c.922A> G (p.Ile308Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782351352	GRCh37	Chromosome X, 77245040: 77245040
29	ATP7A	NM_000052.6(ATP7A): c.2531G> A (p.Arg844His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367775730	GRCh38	Chromosome X, 78015786: 78015786
30	ATP7A	NM_000052.6(ATP7A): c.2531G> A (p.Arg844His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367775730	GRCh37	Chromosome X, 77271283: 77271283
31	ATP7A	NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372489000	GRCh38	Chromosome X, 78042666: 78042666
32	ATP7A	NM_000052.6(ATP7A): c.3883C> T (p.Arg1295Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372489000	GRCh37	Chromosome X, 77298164: 77298164
33	ATP7A	NM_000052.6(ATP7A): c.3894G> C (p.Met1298Ile)	single nucleotide variant	Uncertain significance	rs782499160	GRCh37	Chromosome X, 77298175: 77298175
34	ATP7A	NM_000052.6(ATP7A): c.3894G> C (p.Met1298Ile)	single nucleotide variant	Uncertain significance	rs782499160	GRCh38	Chromosome X, 78042677: 78042677
35	ATP7A	NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143214563	GRCh37	Chromosome X, 77266954: 77266954
36	ATP7A	NM_000052.6(ATP7A): c.1955G> A (p.Arg652Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143214563	GRCh38	Chromosome X, 78011457: 78011457
37	ATP7A	NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146651049	GRCh37	Chromosome X, 77298815: 77298815
38	ATP7A	NM_000052.6(ATP7A): c.4006A> G (p.Asn1336Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146651049	GRCh38	Chromosome X, 78043317: 78043317
39	ATP7A	NM_000052.6(ATP7A): c.327G> A (p.Lys109=)	single nucleotide variant	Benign	rs61747968	GRCh37	Chromosome X, 77243944: 77243944
40	ATP7A	NM_000052.6(ATP7A): c.327G> A (p.Lys109=)	single nucleotide variant	Benign	rs61747968	GRCh38	Chromosome X, 77988448: 77988448
41	ATP7A	NM_000052.6(ATP7A): c.278C> T (p.Thr93Met)	single nucleotide variant	Uncertain significance	rs539177302	GRCh37	Chromosome X, 77243895: 77243895
42	ATP7A	NM_000052.6(ATP7A): c.278C> T (p.Thr93Met)	single nucleotide variant	Uncertain significance	rs539177302	GRCh38	Chromosome X, 77988399: 77988399
43	ATP7A	NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372898963	GRCh37	Chromosome X, 77266696: 77266696
44	ATP7A	NM_000052.6(ATP7A): c.1893G> C (p.Leu631Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372898963	GRCh38	Chromosome X, 78011199: 78011199
45	ATP7A	NM_000052.6(ATP7A): c.1009G> A (p.Ala337Thr)	single nucleotide variant	Benign/Likely benign	rs138039591	GRCh37	Chromosome X, 77245127: 77245127
46	ATP7A	NM_000052.6(ATP7A): c.1009G> A (p.Ala337Thr)	single nucleotide variant	Benign/Likely benign	rs138039591	GRCh38	Chromosome X, 77989631: 77989631
47	ATP7A	NM_000052.6(ATP7A): c.2353C> A (p.Pro785Thr)	single nucleotide variant	Uncertain significance	rs1057523512	GRCh37	Chromosome X, 77268556: 77268556
48	ATP7A	NM_000052.6(ATP7A): c.2353C> A (p.Pro785Thr)	single nucleotide variant	Uncertain significance	rs1057523512	GRCh38	Chromosome X, 78013059: 78013059
49	ATP7A	NM_000052.6(ATP7A): c.3153C> T (p.His1051=)	single nucleotide variant	Benign/Likely benign	rs142998552	GRCh37	Chromosome X, 77286939: 77286939
50	ATP7A	NM_000052.6(ATP7A): c.3153C> T (p.His1051=)	single nucleotide variant	Benign/Likely benign	rs142998552	GRCh38	Chromosome X, 78031441: 78031441

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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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Spinal Muscular Atrophy, Distal, X-Linked 3 (DSMAX3)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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