MCID: SPN188
MIFTS: 23

Spinal Muscular Atrophy, Distal, X-Linked 3

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

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
UMLS 73 C1845359

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

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

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

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 29 ATP7A

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

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:

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

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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