MCID: SPN364
MIFTS: 22

Spinocerebellar Ataxia, X-Linked 3

Categories: Ear 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 58 74
Scax3 58 54 60
Spinocerebellar Ataxia X-Linked Type 3 54
X-Linked Spinocerebellar Ataxia Type 3 60
Ataxia-Deafness Syndrome, X-Linked 58
Ataxia-Deafness Syndrome X-Linked 54
X-Linked Ataxia-Deafness Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
x-linked spinocerebellar ataxia type 3
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Miscellaneous:
onset in infancy
death in early childhood

Inheritance:
x-linked recessive


HPO:

33
spinocerebellar ataxia, x-linked 3:
Clinical modifier death in infancy
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, X-Linked 3

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85297Disease definitionX-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 recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 3, also known as scax3, is related to mohr-tranebjaerg syndrome and cone-rod dystrophy and hearing loss 2, and has symptoms including seizures, action tremor and lethargy. An important gene associated with Spinocerebellar Ataxia, X-Linked 3 is SCAX3 (Spinocerebellar Ataxia, X-Linked 3). Related phenotypes are ataxia and muscular hypotonia

Description 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:

# Related Disease Score Top Affiliating Genes
1 mohr-tranebjaerg syndrome 11.4
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 3

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

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
5 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
6 esotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000565
7 seizures 33 HP:0001250
8 spasticity 33 HP:0001257
9 muscle weakness 33 HP:0001324
10 dysphagia 33 HP:0002015
11 recurrent respiratory infections 33 HP:0002205
12 gastroesophageal reflux 33 HP:0002020
13 vomiting 33 HP:0002013
14 dysmetria 33 HP:0001310
15 intention tremor 33 HP:0002080
16 dementia 33 HP:0000726
17 areflexia 33 HP:0001284
18 hyporeflexia 33 HP:0001265
19 lethargy 33 HP:0001254
20 optic disc pallor 33 HP:0000543
21 cerebellar atrophy 33 HP:0001272
22 generalized hypotonia 33 HP:0001290
23 neuronal loss in central nervous system 33 HP:0002529
24 gliosis 33 HP:0002171
25 incoordination 33 HP:0002311
26 episodic respiratory distress 33 HP:0004885
27 head titubation 33 HP:0002599
28 episodic hypoventilation 33 HP:0004881
29 unilateral vocal cord paralysis 33 HP:0008757

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dysmetria
intention tremor
dementia
lethargy
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

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


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

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for Spinocerebellar Ataxia, X-Linked 3

Anatomical Context for Spinocerebellar Ataxia, X-Linked 3

Publications for Spinocerebellar Ataxia, X-Linked 3

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

GO Terms for Spinocerebellar Ataxia, X-Linked 3

Sources for Spinocerebellar Ataxia, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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