SCAX3
MCID: SPN364
MIFTS: 39

Spinocerebellar Ataxia, X-Linked 3 (SCAX3)

Categories: Ear diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 3

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 3:

Name: Spinocerebellar Ataxia, X-Linked 3 57 70
Scax3 57 12 20 58
X-Linked Spinocerebellar Ataxia Type 3 12 58
X-Linked Spinocerebellar Ataxia 3 12 15
X-Linked Ataxia-Deafness Syndrome 12 58
Spinocerebellar Ataxia X-Linked Type 3 20
X-Linked Ataxia-Hearing Loss Syndrome 58
Spinocerebellar Ataxia, X-Linked, 3 44
Ataxia-Deafness Syndrome, X-Linked 57
Ataxia-Deafness Syndrome X-Linked 20

Characteristics:

Orphanet epidemiological data:

58
x-linked spinocerebellar ataxia type 3
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in infancy
death in early childhood

Inheritance:
x-linked recessive


HPO:

31
spinocerebellar ataxia, x-linked 3:
Onset and clinical course death in infancy infantile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, X-Linked 3

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85297 Definition X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 3, also known as scax3, is related to mohr-tranebjaerg syndrome and spinocerebellar ataxia, x-linked 2, and has symptoms including seizures, lethargy and head titubation. An important gene associated with Spinocerebellar Ataxia, X-Linked 3 is SCAX3 (Spinocerebellar Ataxia, X-Linked 3), and among its related pathways/superpathways are CREB Pathway and cGMP-PKG signaling pathway. Affiliated tissues include eye, and related phenotypes are ataxia and global developmental delay

Disease Ontology : 12 An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.

More information from OMIM: 301790

Related Diseases for Spinocerebellar Ataxia, X-Linked 3

Diseases in the Spinocerebellar Ataxia, X-Linked 1 family:

Spinocerebellar Ataxia, X-Linked 5 Spinocerebellar Ataxia, X-Linked 3
Spinocerebellar Ataxia, X-Linked 4 Spinocerebellar Ataxia, X-Linked 2

Diseases related to Spinocerebellar Ataxia, X-Linked 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 mohr-tranebjaerg syndrome 11.3
2 spinocerebellar ataxia, x-linked 2 10.2 TK2 ATP2B3
3 spinocerebellar ataxia 18 10.2 PLEKHG4 GRID2
4 spinocerebellar ataxia 31 10.0 TK2 PLEKHG4
5 spinocerebellar ataxia, x-linked 1 10.0 PPP3R1 PAICS ATP2B3
6 spinocerebellar ataxia, x-linked 5 10.0 TK2 SLC9A3R2 PLEKHG4 ATP2B3
7 spinocerebellar ataxia 30 10.0 TK2 PLEKHG4 ITPR1
8 spinocerebellar ataxia 26 10.0 TK2 ITPR1
9 cerebellar ataxia type 41 9.9 ITPR1 GRM1 GRID2
10 x-linked cerebellar ataxia 9.9 PPP3R1 PAICS ATP2B3 ATP2B2
11 myoclonic cerebellar dyssynergia 9.9 TK2 FMR1
12 spinocerebellar ataxia 5 9.8 ITPR1 GRID2
13 depression 9.8 NOS1 GRM1 GRID2
14 hereditary ataxia 9.6 PLEKHG4 ITPR1 GRM1 GRID2 ATP2B3
15 dentatorubral-pallidoluysian atrophy 9.5 TK2 PLEKHG4 ITPR1 FMR1
16 cerebellar disease 9.3 PLEKHG4 ITPR1 GRM1 GRID2 FMR1
17 autosomal dominant cerebellar ataxia 9.2 TK2 PLEKHG4 ITPR1 GRM1 GRID2 FMR1
18 amyotrophic lateral sclerosis 1 9.0 TK2 PPP3R1 PAICS NOS1 GRID2 FMR1
19 disease of mental health 8.5 NOS1 ITPR1 GRM1 GRID2 FMR1 CHD7
20 spinocerebellar ataxia, x-linked 4 7.3 TK2 SLC9A3R2 RASSF1 PPP3R1 PLEKHG4 PAICS

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 3:



Diseases related to Spinocerebellar Ataxia, X-Linked 3

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 3

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 3:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 esotropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000565
6 hypotonia 31 hallmark (90%) HP:0001252
7 spasticity 31 HP:0001257
8 dysphagia 31 HP:0002015
9 muscular hypotonia 58 Very frequent (99-80%)
10 muscle weakness 31 HP:0001324
11 recurrent respiratory infections 31 HP:0002205
12 gastroesophageal reflux 31 HP:0002020
13 vomiting 31 HP:0002013
14 areflexia 31 HP:0001284
15 dysmetria 31 HP:0001310
16 hyporeflexia 31 HP:0001265
17 lethargy 31 HP:0001254
18 optic disc pallor 31 HP:0000543
19 cerebellar atrophy 31 HP:0001272
20 dementia 31 HP:0000726
21 generalized hypotonia 31 HP:0001290
22 intention tremor 31 HP:0002080
23 neuronal loss in central nervous system 31 HP:0002529
24 head titubation 31 HP:0002599
25 incoordination 31 HP:0002311
26 gliosis 31 HP:0002171
27 episodic respiratory distress 31 HP:0004885
28 unilateral vocal cord paralysis 31 HP:0008757
29 seizure 31 HP:0001250
30 episodic hypoventilation 31 HP:0004881

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dysmetria
lethargy
cerebellar atrophy
dementia
more
Abdomen Gastrointestinal:
gastroesophageal reflux
vomiting, episodic
dysphagia, episodic
choking, episodic

Head And Neck Ears:
sensorineural hearing loss

Respiratory Larynx:
unilateral paralysis of the vocal cord

Head And Neck Eyes:
optic atrophy
strabismus
esotropia
pale optic discs

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Respiratory:
respiratory infections
respiratory distress, episodic
hypoventilation, episodic

Clinical features from OMIM®:

301790 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia, X-Linked 3:


seizures; lethargy; head titubation; action tremor; cerebellar ataxia; weakness

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, X-Linked 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ATP2B2 ATP2B3 CAV1 CHD7 FMR1 GRID2
2 cellular MP:0005384 10.06 ATP2B2 CAV1 CHD7 FMR1 GRID2 GRM1
3 homeostasis/metabolism MP:0005376 10 ATP2B2 CAV1 CHD7 GRID2 GRM1 ITPR1
4 muscle MP:0005369 9.76 CAV1 CHD7 GRID2 GRM1 ITPR1 NOS1
5 nervous system MP:0003631 9.7 ATP2B2 CAV1 CHD7 FMR1 GRID2 GRM1
6 reproductive system MP:0005389 9.23 ATP2B2 CAV1 CHD7 FMR1 GRID2 GRM1

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, X-Linked 3

Cochrane evidence based reviews: spinocerebellar ataxia, x-linked, 3

Genetic Tests for Spinocerebellar Ataxia, X-Linked 3

Anatomical Context for Spinocerebellar Ataxia, X-Linked 3

MalaCards organs/tissues related to Spinocerebellar Ataxia, X-Linked 3:

40
Eye

Publications for Spinocerebellar Ataxia, X-Linked 3

Articles related to Spinocerebellar Ataxia, X-Linked 3:

# Title Authors PMID Year
1
Infantile X-linked ataxia and deafness: a new clinicopathologic entity? 57
3614654 1987
2
The grapevine VvCAX3 is a cation/H+ exchanger involved in vacuolar Ca2+ homeostasis. 61
28801786 2017
3
Characterization of Arabidopsis Ca2+/H+ exchanger CAX3. 61
21657244 2011

Variations for Spinocerebellar Ataxia, X-Linked 3

Expression for Spinocerebellar Ataxia, X-Linked 3

Search GEO for disease gene expression data for Spinocerebellar Ataxia, X-Linked 3.

Pathways for Spinocerebellar Ataxia, X-Linked 3

Pathways related to Spinocerebellar Ataxia, X-Linked 3 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 PPP3R1 ITPR1 GRM1 GRID2 ATP2B3 ATP2B2
2
Show member pathways
12.23 PPP3R1 ITPR1 ATP2B3 ATP2B2
3
Show member pathways
12.2 NOS1 ITPR1 ATP2B3 ATP2B2
4 12.09 SLC9A3R2 NOS1 ITPR1 GRM1 FMR1
5
Show member pathways
12.06 NOS1 ITPR1 ATP2B3 ATP2B2
6 11.9 ITPR1 GRM1 CAV1
7 11.84 PPP3R1 NOS1 ITPR1
8
Show member pathways
11.83 NOS1 ITPR1 ATP2B3 ATP2B2
9
Show member pathways
11.67 PPP3R1 ITPR1 GRM1
10
Show member pathways
11.5 PPP3R1 ITPR1 GRM1
11 11.48 PPP3R1 NOS1 ITPR1 GRM1 ATP2B3 ATP2B2
12 11.03 NOS1 ITPR1 GRM1 GRID2
13 10.99 PPP3R1 NOS1

GO Terms for Spinocerebellar Ataxia, X-Linked 3

Cellular components related to Spinocerebellar Ataxia, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.56 GRM1 GRID2 ATP2B3 ATP2B2
2 presynapse GO:0098793 9.54 FMR1 ATP2B3 ATP2B2
3 dendritic spine GO:0043197 9.5 NOS1 GRID2 FMR1
4 sarcolemma GO:0042383 9.33 PPP3R1 NOS1 CAV1
5 postsynaptic density GO:0014069 9.26 NOS1 ITPR1 GRM1 FMR1
6 calcineurin complex GO:0005955 8.62 PPP3R1 ITPR1

Biological processes related to Spinocerebellar Ataxia, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.65 NOS1 ITPR1 CAV1
2 calcium ion transmembrane transport GO:0070588 9.63 ITPR1 ATP2B3 ATP2B2
3 ion transmembrane transport GO:0034220 9.62 ITPR1 GRID2 ATP2B3 ATP2B2
4 cellular calcium ion homeostasis GO:0006874 9.58 CAV1 ATP2B3 ATP2B2
5 calcium ion transport GO:0006816 9.46 ITPR1 CAV1 ATP2B3 ATP2B2
6 glutamate receptor signaling pathway GO:0007215 9.43 GRID2 FMR1
7 regulation of cytosolic calcium ion concentration GO:0051480 9.43 CAV1 ATP2B3 ATP2B2
8 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 9.37 ATP2B3 ATP2B2
9 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.13 ITPR1 GRM1 ATP2B2
10 regulation of cardiac conduction GO:1903779 8.92 NOS1 ITPR1 ATP2B3 ATP2B2

Molecular functions related to Spinocerebellar Ataxia, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.61 NOS1 FMR1 CAV1
2 PDZ domain binding GO:0030165 9.5 GRID2 ATP2B3 ATP2B2
3 glutamate receptor activity GO:0008066 9.4 GRM1 GRID2
4 cation-transporting ATPase activity GO:0019829 9.37 ATP2B3 ATP2B2
5 calcium-transporting ATPase activity GO:0005388 9.26 ATP2B3 ATP2B2
6 calmodulin binding GO:0005516 9.26 PPP3R1 NOS1 ATP2B3 ATP2B2
7 calcium ion transmembrane transporter activity GO:0015085 9.16 ITPR1 ATP2B3
8 calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration GO:1905056 8.62 ATP2B3 ATP2B2

Sources for Spinocerebellar Ataxia, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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