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

SMAX3 MCID: SPN188 MIFTS: 42	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 ⁵⁷ ¹³ ⁴⁴ ⁷¹

Smax3 ⁵⁷ ¹² ⁵⁸ ⁷³

Dsmax ⁵⁷ 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 ⁵⁷

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®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 300489

MeSH ⁴⁴ 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 menkes disease and occipital horn syndrome. 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 Mineral absorption. 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 32)

#	Related Disease	Score	Top Affiliating Genes
1	menkes disease	29.3	PAM DBH CP COX17 ATP7B ATP7A
2	occipital horn syndrome	29.1	PAM DBH CP COX17 ATP7B ATP7A
3	amyotrophic lateral sclerosis 1	10.2
4	lateral sclerosis	10.2
5	motor neuron disease	10.2
6	myopathy	10.2
7	giant axonal neuropathy	10.2
8	disorder of copper metabolism	10.2	ATP7B ATP7A
9	spinal muscular atrophy	10.0
10	muscular atrophy	10.0
11	neuropathy	10.0
12	charcot-marie-tooth hereditary neuropathy	10.0
13	hypermanganesemia with dystonia	10.0	SLC33A1 AP1S1
14	bladder diverticulum	10.0	DBH CP ATP7A
15	hypermanganesemia with dystonia 2	10.0	SLC33A1 AP1S1
16	dopamine beta-hydroxylase deficiency	9.9	DBH ATP7A ATOX1
17	inherited metabolic disorder	9.9	CP ATP7B ATP7A
18	pettigrew syndrome	9.9	PAM AP1S1
19	hemochromatosis, type 5	9.9	SLC33A1 AP1S1
20	neuronopathy, distal hereditary motor, type i	9.9
21	charcot-marie-tooth disease, x-linked dominant, 1	9.9
22	charcot-marie-tooth disease, x-linked recessive, 3	9.9
23	sensory peripheral neuropathy	9.9
24	atp7a-related copper transport disorders	9.9
25	hereditary neuropathies	9.9
26	x-linked distal hereditary motor neuropathy	9.9
27	spinal muscular atrophy, distal, autosomal recessive, 3	9.9	C1orf87 ATP7A
28	mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	9.7	SLC33A1 PAM ATP7B ATP7A AP1S1
29	wilson disease	9.6	DBH CP ATP7B ATP7A ATOX1
30	deficiency anemia	9.6	CP COX17 ATP7A ATOX1
31	metal metabolism disorder	9.6	CP COX17 ATP7B ATP7A ATOX1
32	aceruloplasminemia	9.5	SLC33A1 CP 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	unsteady gait ³¹		HP:0002317
5	distal amyotrophy ³¹		HP:0003693
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®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	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. ⁶ ⁵⁷	Kennerson ML...Garbern JY	20170900	2010
2	X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. ⁵⁷ ⁶	Kennerson M...Garbern J	19153371	2009
3	A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. ⁵⁷ ⁶	Takata RI...Zatz M	14985388	2004
4	ATP7A mutation with occipital horns and distal motor neuropathy: A continuum. ⁶¹	Fradin M...Pasquier L	33137485	2020
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 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	1682.74	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	19153371 14985388
2	AP1S1	Adaptor Related Protein Complex 1 Subunit Sigma 1	Protein Coding	6.52	DISEASES inferred ¹⁵
3	PAM	Peptidylglycine Alpha-Amidating Monooxygenase	Protein Coding	6.4	DISEASES inferred ¹⁵
4	ATP7B	ATPase Copper Transporting Beta	Protein Coding	6.21	DISEASES inferred ¹⁵
5	DBH	Dopamine Beta-Hydroxylase	Protein Coding	6.04	DISEASES inferred ¹⁵
6	BASP1	Brain Abundant Membrane Attached Signal Protein 1	Protein Coding	5.93	DISEASES inferred ¹⁵
7	CP	Ceruloplasmin	Protein Coding	5.61	DISEASES inferred ¹⁵
8	COX17	Cytochrome C Oxidase Copper Chaperone COX17	Protein Coding	5.56	DISEASES inferred ¹⁵
9	DEFB110	Defensin Beta 110	Protein Coding	5.55	DISEASES inferred ¹⁵
10	ATOX1	Antioxidant 1 Copper Chaperone	Protein Coding	5.54	DISEASES inferred ¹⁵
11	SLC33A1	Solute Carrier Family 33 Member 1	Protein Coding	5.54	DISEASES inferred ¹⁵
12	COX11	Cytochrome C Oxidase Copper Chaperone COX11	Protein Coding	5.45	DISEASES inferred ¹⁵
13	C1orf87	Chromosome 1 Open Reading Frame 87	Protein Coding	5.13	DISEASES inferred ¹⁵
14	PNMA6A	PNMA Family Member 6A	Protein Coding	5.11	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 223)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP7A	NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)	SNV	Pathogenic	11794	rs267606673	X:77284811-77284811	X:78029314-78029314
2	ATP7A	NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)	SNV	Pathogenic	11795	rs267606672	X:77300999-77300999	X:78045502-78045502
3	ATP7A	NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)	SNV	Pathogenic	459840	rs1557237451	X:77289281-77289281	X:78033783-78033783
4	ATP7A	NC_000023.10:g.(?_77271231)_(77271398_?)del	Deletion	Pathogenic	533690		X:77271231-77271398
5	ATP7A	NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)	Deletion	Pathogenic	571199	rs1569549974	X:77270219-77270219	X:78014722-78014722
6	ATP7A	NM_000052.7(ATP7A):c.453del (p.Thr152fs)	Deletion	Pathogenic	642741	rs1603381331	X:77244068-77244068	X:77988572-77988572
7	ATP7A	NM_000052.7(ATP7A):c.3294+1G>A	SNV	Pathogenic	648378	rs797045374	X:77287081-77287081	X:78031583-78031583
8	ATP7A	NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)	SNV	Pathogenic	581017	rs1569549699	X:77254175-77254175	X:77998678-77998678
9	ATP7A	NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs)	Microsatellite	Pathogenic	210474	rs797045397	X:77244037-77244038	X:77988541-77988542
10	ATP7A	NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)	SNV	Pathogenic	657355	rs1603391120	X:77298149-77298149	X:78042651-78042651
11	ATP7A	NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)	Duplication	Pathogenic	651544	rs1603389393	X:77287035-77287036	X:78031537-78031538
12	ATP7A	NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)	Deletion	Pathogenic	846390		X:77298835-77298835	X:78043337-78043337
13	ATP7A	NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)	SNV	Pathogenic	929465		X:77271328-77271328	X:78015831-78015831
14	ATP7A	NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)	SNV	Pathogenic	945136		X:77294348-77294348	X:78038850-78038850
15	ATP7A	NM_000052.7(ATP7A):c.462dup (p.Lys155fs)	Duplication	Pathogenic	964347		X:77244078-77244079	X:77988582-77988583
16	ATP7A	NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)	SNV	Pathogenic	210404	rs72554640	X:77266736-77266736	X:78011239-78011239
17	ATP7A	NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)	SNV	Pathogenic	210425	rs72554645	X:77268586-77268586	X:78013089-78013089
18	ATP7A	NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)	SNV	Pathogenic	11795	rs267606672	X:77300999-77300999	X:78045502-78045502
19	ATP7A	NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	SNV	Pathogenic	11793	rs151340633	X:77244218-77244218	X:77988722-77988722
20	ATP7A	NM_000052.7(ATP7A):c.2663del (p.Thr888fs)	Deletion	Pathogenic	963560		X:77275777-77275777	X:78020280-78020280
21	ATP7A	NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)	SNV	Pathogenic	210395	rs797045332	X:77258665-77258665	X:78003168-78003168
22	ATP7A	NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)	Deletion	Pathogenic	971523		X:77245391-77245391	X:77989895-77989895
23	ATP7A	NM_000052.7(ATP7A):c.2172+5G>C	SNV	Likely pathogenic	210415	rs797045347	X:77267176-77267176	X:78011679-78011679
24	ATP7A	NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)	SNV	Likely pathogenic	549669	rs1557236729	X:77284802-77284802	X:78029305-78029305
25	ATP7A	NM_000052.7(ATP7A):c.4006-1G>A	SNV	Likely pathogenic	465121	rs1557238665	X:77298814-77298814	X:78043316-78043316
26	ATP7A	NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)	SNV	Uncertain significance	465109	rs944415019	X:77267070-77267070	X:78011573-78011573
27	ATP7A	NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile)	SNV	Uncertain significance	465119	rs1557237452	X:77289284-77289284	X:78033786-78033786
28	ATP7A	NM_000052.7(ATP7A):c.1814A>G (p.His605Arg)	SNV	Uncertain significance	465107	rs1020034878	X:77264705-77264705	X:78009208-78009208
29	ATP7A	NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro)	SNV	Uncertain significance	465111	rs1557234938	X:77270210-77270210	X:78014713-78014713
30	ATP7A	NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)	SNV	Uncertain significance	372700	rs539177302	X:77243895-77243895	X:77988399-77988399
31	ATP7A	NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	SNV	Uncertain significance	210439	rs797045365	X:77284832-77284832	X:78029335-78029335
32	ATP7A	NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg)	SNV	Uncertain significance	465126	rs1557239147	X:77302009-77302009	X:78046512-78046512
33	ATP7A	NC_000023.10:g.(?_77266653)_(77268629_?)dup	Duplication	Uncertain significance	465103		X:77266653-77268629
34	ATP7A	NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val)	Indel	Uncertain significance	465115	rs1557236745	X:77284858-77284860	X:78029361-78029363
35	ATP7A	NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)	SNV	Uncertain significance	533670	rs146119866	X:77275839-77275839	X:78020342-78020342
36	ATP7A	NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln)	SNV	Uncertain significance	533672	rs1557237081	X:77287075-77287075	X:78031577-78031577
37	ATP7A	NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)	SNV	Uncertain significance	389710	rs1057523512	X:77268556-77268556	X:78013059-78013059
38	ATP7A	NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)	SNV	Uncertain significance	533673	rs201999500	X:77254023-77254023	X:77998526-77998526
39	ATP7A	NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)	SNV	Uncertain significance	392357	rs1057524455	X:77258623-77258623	X:78003126-78003126
40	ATP7A	NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)	SNV	Uncertain significance	533674	rs1280037924	X:77301808-77301808	X:78046311-78046311
41	ATP7A	NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly)	SNV	Uncertain significance	533675	rs1557239152	X:77302054-77302054	X:78046557-78046557
42	ATP7A	NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp)	SNV	Uncertain significance	533676	rs781907456	X:77294375-77294375	X:78038877-78038877
43	ATP7A	NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)	SNV	Uncertain significance	651307	rs1603389390	X:77287031-77287031	X:78031533-78031533
44	ATP7A	NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	SNV	Uncertain significance	639627	rs782364202	X:77301920-77301920	X:78046423-78046423
45	ATP7A	NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)	SNV	Uncertain significance	642511	rs1603386154	X:77271265-77271265	X:78015768-78015768
46	ATP7A	NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)	SNV	Uncertain significance	648639	rs1603378831	X:77227250-77227250	X:77971753-77971753
47	ATP7A	NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)	SNV	Uncertain significance	648905	rs782664232	X:77243985-77243985	X:77988489-77988489
48	ATP7A	NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)	SNV	Uncertain significance	649439	rs1331470313	X:77258584-77258584	X:78003087-78003087
49	ATP7A	NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)	SNV	Uncertain significance	650145	rs1557238254	X:77296131-77296131	X:78040633-78040633
50	ATP7A	NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)	SNV	Uncertain significance	643466	rs782455461	X:77267038-77267038	X:78011541-78011541

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	11.77	DEFB110 ATP7A ATOX1
2	Mineral absorption ³⁶	10.9	ATP7B ATP7A ATOX1
3	Copper homeostasis ¹	10.75	COX17 COX11 ATP7B ATP7A ATOX1
4	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.62	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	transport vesicle membrane	GO:0030658	8.96	PAM DBH
2	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:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	metal ion transport	GO:0030001	9.5	ATP7B ATP7A ATOX1
2	lactation	GO:0007595	9.49	PAM ATP7A
3	blood vessel remodeling	GO:0001974	9.48	DBH ATP7A
4	response to zinc ion	GO:0010043	9.46	PAM ATP7A
5	inorganic cation transmembrane transport	GO:0098662	9.43	ATP7B ATP7A
6	response to copper ion	GO:0046688	9.43	PAM ATP7B ATP7A
7	copper ion import	GO:0015677	9.4	ATP7B ATP7A
8	divalent inorganic cation transport	GO:0072511	9.37	ATP7B ATP7A
9	cellular copper ion homeostasis	GO:0006878	9.33	ATP7B ATP7A ATOX1
10	copper ion export	GO:0060003	9.13	ATP7B ATP7A ATOX1
11	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	copper ion transmembrane transporter activity	GO:0005375	9.37	ATP7B ATP7A
5	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	9.32	PAM DBH
6	copper chaperone activity	GO:0016531	9.26	COX17 ATOX1
7	copper ion binding	GO:0005507	9.23	PAM DBH CP COX17 COX11 ATP7B
8	copper-dependent protein binding	GO:0032767	9.16	ATP7A ATOX1
9	copper-transporting ATPase activity	GO:0043682	8.96	ATP7B ATP7A

Sources

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

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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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

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