MCID: SPN389
MIFTS: 5

Spinocerebellar Atrophy with Pupillary Paralysis

Aliases & Classifications for Spinocerebellar Atrophy with Pupillary Paralysis

MalaCards integrated aliases for Spinocerebellar Atrophy with Pupillary Paralysis:

Name: Spinocerebellar Atrophy with Pupillary Paralysis 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spinocerebellar atrophy with pupillary paralysis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 183100
MedGen 42 C1866746

Summaries for Spinocerebellar Atrophy with Pupillary Paralysis

MalaCards based summary : Spinocerebellar Atrophy with Pupillary Paralysis Related phenotype is spinocerebellar atrophy.

More information from OMIM: 183100

Related Diseases for Spinocerebellar Atrophy with Pupillary Paralysis

Symptoms & Phenotypes for Spinocerebellar Atrophy with Pupillary Paralysis

Human phenotypes related to Spinocerebellar Atrophy with Pupillary Paralysis:

32
# Description HPO Frequency HPO Source Accession
1 spinocerebellar atrophy 32 HP:0007263

Symptoms via clinical synopsis from OMIM:

57
Neuro:
spinocerebellar atrophy
absent pupillary reaction to light or convergence
preserved pupillary accommodation reflexes

Clinical features from OMIM:

183100

Drugs & Therapeutics for Spinocerebellar Atrophy with Pupillary Paralysis

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Atrophy with Pupillary Paralysis

Genetic Tests for Spinocerebellar Atrophy with Pupillary Paralysis

Anatomical Context for Spinocerebellar Atrophy with Pupillary Paralysis

Publications for Spinocerebellar Atrophy with Pupillary Paralysis

Variations for Spinocerebellar Atrophy with Pupillary Paralysis

Expression for Spinocerebellar Atrophy with Pupillary Paralysis

Search GEO for disease gene expression data for Spinocerebellar Atrophy with Pupillary Paralysis.

Pathways for Spinocerebellar Atrophy with Pupillary Paralysis

GO Terms for Spinocerebellar Atrophy with Pupillary Paralysis

Sources for Spinocerebellar Atrophy with Pupillary Paralysis

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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