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

SMAX3 MCID: SPN188 MIFTS: 43	Spinal Muscular Atrophy, Distal, X-Linked 3 (SMAX3) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways 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 ⁵⁶ ¹³ ⁴³ ⁷¹

Smax3 ⁵⁶ ¹² ⁵⁸ ⁷³

Dsmax ⁵⁶ ¹² ⁵⁸ ⁷³

X-Linked Distal Hereditary Motor Neuropathy Type 3 ¹² ⁵⁸

Distal Spinal Muscular Atrophy, X-Linked 3 ²⁹ ⁶

X-Linked Distal Spinal Muscular Atrophy 3 ¹² ¹⁵

Atp7a-Related Distal Motor Neuropathy ¹² ⁵⁸

X-Linked Dhmn3 ¹² ⁵⁸

X-Linked Dsma3 ¹² ⁵⁸

Spinal Muscular Atrophy, Distal, X-Linked Recessive ⁵⁶

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3 ³⁹

X-Linked Recessive Distal Spinal Muscular Atrophy ¹²

Spinal Muscular Atrophy Distal X-Linked Recessive ⁷³

X-Linked Distal Spinal Muscular Atrophy Type 3 ⁵⁸

Distal Spinal Muscular Atrophy, X-Linked, 3 ⁷³

Dsmax3 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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:

³¹

spinal muscular atrophy, distal, x-linked 3:
Onset and clinical course juvenile onset slow progression
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: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0111196

OMIM ⁵⁶ 300489

MeSH ⁴³ C564506 D009134

ICD10 via Orphanet ³³ G12.2

UMLS via Orphanet ⁷² C1845359

Orphanet ⁵⁸ ORPHA139557

MedGen ⁴¹ C1845359

SNOMED-CT via HPO ⁶⁸ 205091006 22631008 249942005 more

UMLS ⁷¹ C1845359

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

UniProtKB/Swiss-Prot : ⁷³ 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 dominant, 1 and menkes disease. An important gene associated with Spinal Muscular Atrophy, Distal, X-Linked 3 is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Defensins and Copper homeostasis. Affiliated tissues include spinal cord, and related phenotypes are distal sensory impairment and pes cavus

Disease Ontology : ¹² A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has material basis in homozygous or hemizygous mutation in ATP7A on Xq21.1.

More information 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:

(show all 36)

#	Related Disease	Score	Top Affiliating Genes
1	charcot-marie-tooth disease, x-linked dominant, 1	29.5	PES1 GJB1
2	menkes disease	28.3	PAM DBH CP COX17 ATP7B ATP7A
3	occipital horn syndrome	28.3	PAM DBH CP COX17 ATP7B ATP7A
4	disorder of copper metabolism	10.3	ATP7B ATP7A
5	spinal muscular atrophy	10.3
6	muscular atrophy	10.3
7	neuropathy	10.3
8	charcot-marie-tooth hereditary neuropathy	10.3
9	amyotrophic lateral sclerosis 1	10.3
10	lateral sclerosis	10.3
11	motor neuron disease	10.3
12	myopathy	10.3
13	giant axonal neuropathy	10.3
14	hereditary dystonia	10.3	DBH ATP7B
15	hypermanganesemia with dystonia 2	10.2	SLC33A1 AP1S1
16	hypermanganesemia with dystonia	10.2	SLC33A1 AP1S1
17	neuronopathy, distal hereditary motor, type i	10.1
18	charcot-marie-tooth disease, x-linked recessive, 3	10.1
19	sensory peripheral neuropathy	10.1
20	atp7a-related copper transport disorders	10.1
21	hereditary neuropathies	10.1
22	x-linked distal hereditary motor neuropathy	10.1
23	hemochromatosis, type 5	10.1	SLC33A1 AP1S1
24	indolent systemic mastocytosis	10.0	DBH ATP7A
25	bladder diverticulum	9.8	DBH CP ATP7A
26	scheuermann disease	9.8	PES1 FAM3D
27	mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	9.6	SLC33A1 PAM ATP7B ATP7A AP1S1
28	charcot-marie-tooth disease, x-linked recessive, 2	9.6	PES1 GJB1
29	charcot-marie-tooth disease x-linked recessive 4	9.6	PES1 GJB1
30	charcot-marie-tooth disease type x	9.6	PES1 GJB1
31	charcot-marie-tooth disease, demyelinating, type 4f	9.5	PES1 GJB1
32	charcot-marie-tooth disease, demyelinating, type 1b	9.5	PES1 GJB1
33	wilson disease	9.3	DBH CP ATP7B ATP7A ATOX1
34	metal metabolism disorder	9.3	CP COX17 ATP7B ATP7A ATOX1
35	charcot-marie-tooth disease, demyelinating, type 1a	9.2	PES1 GJB1
36	aceruloplasminemia	9.0	SLC33A1 CP COX17 ATP7B ATP7A ATOX1

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, X-Linked 3:

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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:

³¹ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	distal sensory impairment ³¹	occasional (7.5%)	HP:0002936
2	pes cavus ³¹		HP:0001761
3	hyporeflexia ³¹		HP:0001265
4	distal amyotrophy ³¹		HP:0003693
5	unsteady gait ³¹		HP:0002317
6	distal muscle weakness ³¹		HP:0002460
7	emg: neuropathic changes ³¹		HP:0003445
8	spinal muscular atrophy ³¹		HP:0007269
9	abnormal peripheral nervous system morphology ³¹		HP:0000759

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.91	ATOX1 ATP7A ATP7B BASP1 CP DBH
2	homeostasis/metabolism	MP:0005376	9.85	ATOX1 ATP7A ATP7B COX17 CP DBH
3	mortality/aging	MP:0010768	9.7	AP1S1 ATOX1 ATP7A ATP7B BASP1 COX17
4	pigmentation	MP:0001186	8.92	ATOX1 ATP7A ATP7B CP

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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

Cochrane evidence based reviews: 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:

⁴⁰

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	PMID	Year
1	Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. ⁵⁶ ⁶	Kennerson ML...Garbern JY	20170900	2010
2	X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. ⁶ ⁵⁶	Kennerson M...Garbern J	19153371	2009
3	A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. ⁶ ⁵⁶	Takata RI...Zatz M	14985388	2004
4	ATP7A-Related Copper Transport Disorders ⁶	Kaler SG	20301586	2003
5	Report of a novel ATP7A mutation causing distal motor neuropathy. ⁶¹	Gualandi F...Ferlini A	31558336	2019
6	X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron. ⁶¹	Hodgkinson VL...Petris MJ	25639447	2015
7	Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis. ⁶¹	Wang Y...Petris MJ	22900086	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):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	1657.53	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵	14985388 20170900 20301586 (more) 19153371
2	AP1S1	Adaptor Related Protein Complex 1 Subunit Sigma 1	Protein Coding	6.45	DISEASES inferred ¹⁵
3	ATP7B	ATPase Copper Transporting Beta	Protein Coding	6.38	DISEASES inferred ¹⁵
4	BASP1	Brain Abundant Membrane Attached Signal Protein 1	Protein Coding	5.92	DISEASES inferred ¹⁵
5	FAM3D	FAM3 Metabolism Regulating Signaling Molecule D	Protein Coding	5.87	DISEASES inferred ¹⁵
6	PAM	Peptidylglycine Alpha-Amidating Monooxygenase	Protein Coding	5.86	DISEASES inferred ¹⁵
7	DBH	Dopamine Beta-Hydroxylase	Protein Coding	5.83	DISEASES inferred ¹⁵
8	DEFB110	Defensin Beta 110	Protein Coding	5.54	DISEASES inferred ¹⁵
9	COX17	Cytochrome C Oxidase Copper Chaperone COX17	Protein Coding	5.54	DISEASES inferred ¹⁵
10	SLC33A1	Solute Carrier Family 33 Member 1	Protein Coding	5.52	DISEASES inferred ¹⁵
11	ATOX1	Antioxidant 1 Copper Chaperone	Protein Coding	5.5	DISEASES inferred ¹⁵
12	COX11	Cytochrome C Oxidase Copper Chaperone COX11	Protein Coding	5.42	DISEASES inferred ¹⁵
13	CP	Ceruloplasmin	Protein Coding	5.23	DISEASES inferred ¹⁵
14	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	5.12	DISEASES inferred ¹⁵
15	GJB1	Gap Junction Protein Beta 1	Protein Coding	5.01	DISEASES inferred ¹⁵

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

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

⁶ (show top 50) (show all 187) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP7A	NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)	SNV	Pathogenic	459840	rs1557237451	X:77289281-77289281	X:78033783-78033783
2	ATP7A	NC_000023.10:g.(?_77271231)_(77271398_?)del	deletion	Pathogenic	533690		X:77271231-77271398
3	ATP7A	NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)	deletion	Pathogenic	571199	rs1569549974	X:77270219-77270219	X:78014722-78014722
4	ATP7A	NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)	SNV	Pathogenic	581017	rs1569549699	X:77254175-77254175	X:77998678-77998678
5	ATP7A	NM_000052.7(ATP7A):c.453del (p.Thr152fs)	deletion	Pathogenic	642741		X:77244068-77244068	X:77988572-77988572
6	ATP7A	NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)	duplication	Pathogenic	651544		X:77287035-77287036	X:78031537-78031538
7	ATP7A	NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)	SNV	Pathogenic	657355		X:77298149-77298149	X:78042651-78042651
8	ATP7A	NM_000052.7(ATP7A):c.3294+1G>A	SNV	Pathogenic	648378		X:77287081-77287081	X:78031583-78031583
9	ATP7A	NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)	deletion	Pathogenic	846390		X:77298835-77298835	X:78043337-78043337
10	ATP7A	NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs)	short repeat	Pathogenic	210474	rs797045397	X:77244037-77244038	X:77988541-77988542
11	ATP7A	NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)	SNV	Pathogenic	210395	rs797045332	X:77258665-77258665	X:78003168-78003168
12	ATP7A	NM_000052.7(ATP7A):c.2172+5G>C	SNV	Pathogenic/Likely pathogenic	210415	rs797045347	X:77267176-77267176	X:78011679-78011679
13	ATP7A	NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)	SNV	Likely pathogenic	549669	rs1557236729	X:77284802-77284802	X:78029305-78029305
14	ATP7A	NM_000052.7(ATP7A):c.4006-1G>A	SNV	Likely pathogenic	465121	rs1557238665	X:77298814-77298814	X:78043316-78043316
15	ATP7A	NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)	SNV	Conflicting interpretations of pathogenicity	465109	rs944415019	X:77267070-77267070	X:78011573-78011573
16	ATP7A	NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)	SNV	Conflicting interpretations of pathogenicity	391862	rs782196306	X:77245148-77245148	X:77989652-77989652
17	ATP7A	NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)	SNV	Conflicting interpretations of pathogenicity	388685	rs368622356	X:77245118-77245118	X:77989622-77989622
18	ATP7A	NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)	SNV	Conflicting interpretations of pathogenicity	423365	rs782682493	X:77301876-77301876	X:78046379-78046379
19	ATP7A	NM_000052.7(ATP7A):c.121-2del	deletion	Conflicting interpretations of pathogenicity	451772	rs1287511385	X:77243733-77243733	X:77988237-77988237
20	ATP7A	NM_000052.7(ATP7A):c.673A>G (p.Met225Val)	SNV	Conflicting interpretations of pathogenicity	451328	rs782619990	X:77244791-77244791	X:77989295-77989295
21	ATP7A	NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)	SNV	Conflicting interpretations of pathogenicity	533685	rs150526992	X:77244998-77244998	X:77989502-77989502
22	ATP7A	NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)	SNV	Conflicting interpretations of pathogenicity	682470		X:77245369-77245369	X:77989873-77989873
23	ATP7A	NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	SNV	Conflicting interpretations of pathogenicity	210436	rs138958687	X:77276563-77276563	X:78021066-78021066
24	ATP7A	NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	SNV	Conflicting interpretations of pathogenicity	210439	rs797045365	X:77284832-77284832	X:78029335-78029335
25	ATP7A	NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)	SNV	Conflicting interpretations of pathogenicity	210466	rs139781067	X:77298212-77298212	X:78042714-78042714
26	ATP7A	NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)	SNV	Conflicting interpretations of pathogenicity	210393	rs143907597	X:77254154-77254154	X:77998657-77998657
27	ATP7A	NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)	SNV	Conflicting interpretations of pathogenicity	198987	rs146692150	X:77267069-77267069	X:78011572-78011572
28	ATP7A	NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)	SNV	Conflicting interpretations of pathogenicity	11794	rs267606673	X:77284811-77284811	X:78029314-78029314
29	ATP7A	NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)	SNV	Conflicting interpretations of pathogenicity	11795	rs267606672	X:77300999-77300999	X:78045502-78045502
30	ATP7A	NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)	SNV	Conflicting interpretations of pathogenicity	243111	rs782351352	X:77245040-77245040	X:77989544-77989544
31	ATP7A	NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)	SNV	Conflicting interpretations of pathogenicity	243112	rs367775730	X:77271283-77271283	X:78015786-78015786
32	ATP7A	NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)	SNV	Conflicting interpretations of pathogenicity	245706	rs368917354	X:77294387-77294387	X:78038889-78038889
33	ATP7A	NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)	SNV	Conflicting interpretations of pathogenicity	245875	rs372489000	X:77298164-77298164	X:78042666-78042666
34	ATP7A	NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)	SNV	Conflicting interpretations of pathogenicity	245774	rs370736173	X:77298875-77298875	X:78043377-78043377
35	ATP7A	NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)	SNV	Conflicting interpretations of pathogenicity	243114	rs147848649	X:77301928-77301928	X:78046431-78046431
36	ATP7A	NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)	SNV	Conflicting interpretations of pathogenicity	284222	rs143214563	X:77266954-77266954	X:78011457-78011457
37	ATP7A	NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)	SNV	Conflicting interpretations of pathogenicity	284224	rs146651049	X:77298815-77298815	X:78043317-78043317
38	ATP7A	NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)	SNV	Conflicting interpretations of pathogenicity	286130	rs72554638	X:77264625-77264625	X:78009128-78009128
39	ATP7A	NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)	SNV	Conflicting interpretations of pathogenicity	374773	rs372898963	X:77266696-77266696	X:78011199-78011199
40	ATP7A	NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)	SNV	Conflicting interpretations of pathogenicity	392215	rs181435872	X:77286898-77286898	X:78031400-78031400
41	ATP7A	NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)	SNV	Uncertain significance	372700	rs539177302	X:77243895-77243895	X:77988399-77988399
42	ATP7A	NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)	SNV	Uncertain significance	246567	rs782499160	X:77298175-77298175	X:78042677-78042677
43	ATP7A	NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)	SNV	Uncertain significance	234437	rs375788705	X:77298144-77298144	X:78042646-78042646
44	ATP7A	NM_000052.7(ATP7A):c.1947-5A>G	SNV	Uncertain significance	665476		X:77266941-77266941	X:78011444-78011444
45	ATP7A	NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)	SNV	Uncertain significance	643827		X:77298871-77298871	X:78043373-78043373
46	ATP7A	NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	SNV	Uncertain significance	639627		X:77301920-77301920	X:78046423-78046423
47	ATP7A	NM_000052.7(ATP7A):c.2498+3A>T	SNV	Uncertain significance	665001		X:77270253-77270253	X:78014756-78014756
48	ATP7A	NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)	SNV	Uncertain significance	664180		X:77289269-77289269	X:78033771-78033771
49	ATP7A	NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)	SNV	Uncertain significance	650145		X:77296131-77296131	X:78040633-78040633
50	ATP7A	NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)	SNV	Uncertain significance	655202		X:77296154-77296154	X:78040656-78040656

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

⁷³

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

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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

Pathways related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Defensins ⁶⁵ Show member pathways Alpha-defensins ⁶⁵ Antimicrobial peptides ⁶⁵ Beta defensins ⁶⁵ Ion influx/efflux at host-pathogen interface ⁶⁵ Metal sequestration by antimicrobial proteins ⁶⁵	11.66	DEFB110 ATP7A ATOX1
2	Copper homeostasis ¹	10.75	COX17 COX11 ATP7B ATP7A ATOX1
3	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.42	ATP7B ATP7A

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

Cellular components related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	trans-Golgi network	GO:0005802	8.8	PAM ATP7B ATP7A

Biological processes related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lactation	GO:0007595	9.58	PAM ATP7B ATP7A
2	metal ion transport	GO:0030001	9.5	ATP7B ATP7A ATOX1
3	blood vessel remodeling	GO:0001974	9.48	DBH ATP7A
4	response to zinc ion	GO:0010043	9.46	PAM ATP7A
5	copper ion import	GO:0015677	9.43	ATP7B ATP7A
6	response to copper ion	GO:0046688	9.43	PAM ATP7B ATP7A
7	divalent inorganic cation transport	GO:0072511	9.37	ATP7B ATP7A
8	cellular copper ion homeostasis	GO:0006878	9.33	ATP7B ATP7A ATOX1
9	copper ion export	GO:0060003	9.13	ATP7B ATP7A ATOX1
10	copper ion transport	GO:0006825	9.02	CP COX17 ATP7B ATP7A ATOX1

Molecular functions related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	L-ascorbic acid binding	GO:0031418	9.46	PAM DBH
2	cation-transporting ATPase activity	GO:0019829	9.43	ATP7B ATP7A
3	cuprous ion binding	GO:1903136	9.4	COX17 ATP7A
4	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	GO:0016715	9.37	PAM DBH
5	copper ion transmembrane transporter activity	GO:0005375	9.32	ATP7B ATP7A
6	copper-dependent protein binding	GO:0032767	9.26	ATP7A ATOX1
7	copper ion binding	GO:0005507	9.23	PAM DBH CP COX17 COX11 ATP7B
8	copper-transporting ATPase activity	GO:0043682	9.16	ATP7B ATP7A
9	copper chaperone activity	GO:0016531	8.96	COX17 ATOX1

Sources

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

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinal Muscular Atrophy, Distal, X-Linked 3 (SMAX3)

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

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

Characteristics:

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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:

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, X-Linked 3:

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

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

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MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:

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

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

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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):

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

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UniProtKB/Swiss-Prot 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

Pathways related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

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

Cellular components related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

Biological processes related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

Molecular functions related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

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