SPAX7
MCID: SPS191
MIFTS: 18

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 57
Spastic Ataxia with Congenital Miosis 57 59
Spax7 57 59
Autosomal Dominant Spastic Ataxia Type 7 59
Miosis, Congenital, with Spastic Ataxia 57
Ataxia, Spastic, with Congenital Miosis 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic ataxia 7, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C1862441
Orphanet 59 ORPHA1182
MedGen 42 C1862441
UMLS 72 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, gait ataxia and dysdiadochokinesis. Affiliated tissues include eye, and related phenotypes are dysarthria and congenital miosis

More information from OMIM: 108650 PS108600

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:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
2 congenital miosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007728
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
6 spastic ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002497
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 optic atrophy 32 occasional (7.5%) HP:0000648
9 ataxia 59 Very frequent (99-80%)
10 babinski sign 32 HP:0003487
11 dysdiadochokinesis 32 HP:0002075
12 abnormal conjugate eye movement 32 HP:0000549

Symptoms via clinical synopsis from OMIM:

57
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, gait ataxia, dysdiadochokinesis, 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:

41
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. 38 8
6821680 1983
2
Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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