SPAX7
MCID: SPS191
MIFTS: 19

Spastic Ataxia 7, Autosomal Dominant (SPAX7)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 7, Autosomal Dominant

MalaCards integrated aliases for Spastic Ataxia 7, Autosomal Dominant:

Name: Spastic Ataxia 7, Autosomal Dominant 56
Spastic Ataxia with Congenital Miosis 56 58
Spax7 56 58
Autosomal Dominant Spastic Ataxia Type 7 58
Miosis, Congenital, with Spastic Ataxia 56
Ataxia, Spastic, with Congenital Miosis 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (range childhood to adult)


HPO:

31
spastic ataxia 7, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 56 108650
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1862441
Orphanet 58 ORPHA1182
MedGen 41 C1862441
UMLS 71 C1862441

Summaries for Spastic Ataxia 7, Autosomal Dominant

MalaCards based summary : Spastic Ataxia 7, Autosomal Dominant, also known as spastic ataxia with congenital miosis, is related to ataxia and polyneuropathy, adult-onset and spastic ataxia, and has symptoms including ataxia, dysdiadochokinesis and gait ataxia. Affiliated tissues include eye, and related phenotypes are dysarthria and congenital miosis

More information from OMIM: 108650

Related Diseases for Spastic Ataxia 7, Autosomal Dominant

Symptoms & Phenotypes for Spastic Ataxia 7, Autosomal Dominant

Human phenotypes related to Spastic Ataxia 7, Autosomal Dominant:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 congenital miosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007728
3 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
6 spastic ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002497
7 optic atrophy 31 occasional (7.5%) HP:0000648
8 seizure 31 occasional (7.5%) HP:0001250
9 seizures 58 Occasional (29-5%)
10 ataxia 58 Very frequent (99-80%)
11 dysdiadochokinesis 31 HP:0002075
12 babinski sign 31 HP:0003487
13 abnormal conjugate eye movement 31 HP:0000549

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysdiadochokinesis
ataxia, truncal
delayed independent walking
ataxia, gait
dysarthria, mild
more
Head And Neck Eyes:
miosis
lack of pupillary dilation in the dark
optic atrophy (in some patients)
nystagmus (in some patients)

Clinical features from OMIM:

108650

UMLS symptoms related to Spastic Ataxia 7, Autosomal Dominant:


ataxia, dysdiadochokinesis, gait ataxia, muscle spasticity, ataxia, truncal

Drugs & Therapeutics for Spastic Ataxia 7, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 7, Autosomal Dominant

Genetic Tests for Spastic Ataxia 7, Autosomal Dominant

Anatomical Context for Spastic Ataxia 7, Autosomal Dominant

MalaCards organs/tissues related to Spastic Ataxia 7, Autosomal Dominant:

40
Eye

Publications for Spastic Ataxia 7, Autosomal Dominant

Articles related to Spastic Ataxia 7, Autosomal Dominant:

# Title Authors PMID Year
1
Hereditary spastic ataxia with congenital miosis: four cases in one family. 56 61
6821680 1983
2
Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases. 56
17584505 2008

Variations for Spastic Ataxia 7, Autosomal Dominant

Expression for Spastic Ataxia 7, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Ataxia 7, Autosomal Dominant.

Pathways for Spastic Ataxia 7, Autosomal Dominant

GO Terms for Spastic Ataxia 7, Autosomal Dominant

Sources for Spastic Ataxia 7, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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