MCID: SPN364
MIFTS: 23

Spinocerebellar Ataxia, X-Linked 3

Categories: Rare diseases, Neuronal diseases, Ear diseases, Mental diseases, Genetic diseases, Eye 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 73
Scax3 57 53 59
Spinocerebellar Ataxia X-Linked Type 3 53
X-Linked Spinocerebellar Ataxia Type 3 59
Ataxia-Deafness Syndrome, X-Linked 57
Ataxia-Deafness Syndrome X-Linked 53
X-Linked Ataxia-Deafness Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked spinocerebellar ataxia type 3
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
onset in infancy
death in early childhood

Inheritance:
x-linked recessive


HPO:

32
spinocerebellar ataxia, x-linked 3:
Mortality/Aging death in infancy
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, X-Linked 3

NIH Rare Diseases : 53 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 has symptoms including cerebellar ataxia, lethargy and seizures. An important gene associated with Spinocerebellar Ataxia, X-Linked 3 is SCAX3 (Spinocerebellar Ataxia, X-Linked 3). Related phenotypes are sensorineural hearing impairment and esotropia

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 11.3

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 3

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 esotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000565
3 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 optic disc pallor 32 HP:0000543
8 dementia 32 HP:0000726
9 seizures 32 HP:0001250
10 lethargy 32 HP:0001254
11 spasticity 32 HP:0001257
12 hyporeflexia 32 HP:0001265
13 cerebellar atrophy 32 HP:0001272
14 areflexia 32 HP:0001284
15 generalized hypotonia 32 HP:0001290
16 dysmetria 32 HP:0001310
17 muscle weakness 32 HP:0001324
18 vomiting 32 HP:0002013
19 dysphagia 32 HP:0002015
20 gastroesophageal reflux 32 HP:0002020
21 intention tremor 32 HP:0002080
22 gliosis 32 HP:0002171
23 recurrent respiratory infections 32 HP:0002205
24 incoordination 32 HP:0002311
25 neuronal loss in central nervous system 32 HP:0002529
26 head titubation 32 HP:0002599
27 episodic hypoventilation 32 HP:0004881
28 episodic respiratory distress 32 HP:0004885
29 unilateral vocal cord paralysis 32 HP:0008757

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


cerebellar ataxia, lethargy, seizures, action tremor, head titubation, 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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