DSMAX3
MCID: SPN188
MIFTS: 23

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

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:

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
UMLS 74 C1845359

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 neuropathy and charcot-marie-tooth hereditary 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

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 charcot-marie-tooth hereditary neuropathy 10.1

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

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

Search Clinical Trials , NIH Clinical Center 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:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, X-Linked 3 30 ATP7A

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

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 )
2012

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.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh37 Chromosome X, 77301954: 77301954
2 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh38 Chromosome X, 78046457: 78046457
3 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh37 Chromosome X, 77267069: 77267069
4 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh38 Chromosome X, 78011572: 78011572
5 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh37 Chromosome X, 77244182: 77244182
6 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh38 Chromosome X, 77988686: 77988686
7 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh37 Chromosome X, 77254154: 77254154
8 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh38 Chromosome X, 77998657: 77998657
9 ATP7A NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201788154 GRCh37 Chromosome X, 77270204: 77270204
10 ATP7A NM_000052.6(ATP7A): c.2452A> G (p.Thr818Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201788154 GRCh38 Chromosome X, 78014707: 78014707
11 ATP7A NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138958687 GRCh37 Chromosome X, 77276563: 77276563
12 ATP7A NM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138958687 GRCh38 Chromosome X, 78021066: 78021066
13 ATP7A NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797045365 GRCh38 Chromosome X, 78029335: 78029335
14 ATP7A NM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797045365 GRCh37 Chromosome X, 77284832: 77284832
15 ATP7A NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val) single nucleotide variant Benign/Likely benign rs139781067 GRCh38 Chromosome X, 78042714: 78042714
16 ATP7A NM_000052.6(ATP7A): c.3931A> G (p.Met1311Val) single nucleotide variant Benign/Likely benign rs139781067 GRCh37 Chromosome X, 77298212: 77298212
17 ATP7A NM_000052.6(ATP7A): c.2981C> T (p.Thr994Ile) single nucleotide variant Pathogenic rs267606673 GRCh37 Chromosome X, 77284811: 77284811
18 ATP7A NM_000052.6(ATP7A): c.2981C> T (p.Thr994Ile) single nucleotide variant Pathogenic rs267606673 GRCh38 Chromosome X, 78029314: 78029314
19 ATP7A NM_000052.6(ATP7A): c.4156C> T (p.Pro1386Ser) single nucleotide variant Pathogenic rs267606672 GRCh37 Chromosome X, 77300999: 77300999
20 ATP7A NM_000052.6(ATP7A): c.4156C> T (p.Pro1386Ser) single nucleotide variant Pathogenic rs267606672 GRCh38 Chromosome X, 78045502: 78045502
21 ATP7A NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys) single nucleotide variant Benign rs61742278 GRCh37 Chromosome X, 77264714: 77264714
22 ATP7A NM_000052.6(ATP7A): c.1823A> G (p.Tyr608Cys) single nucleotide variant Benign rs61742278 GRCh38 Chromosome X, 78009217: 78009217
23 ATP7A NM_000052.6(ATP7A): c.610+8G> A single nucleotide variant Benign rs144616937 GRCh37 Chromosome X, 77244235: 77244235
24 ATP7A NM_000052.6(ATP7A): c.610+8G> A single nucleotide variant Benign rs144616937 GRCh38 Chromosome X, 77988739: 77988739
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

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

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

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

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