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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
spinocerebellar atrophy with pupillary paralysis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 183100
MedGen 41 C1866746
SNOMED-CT via HPO 68 129609000 263681008

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:

31
# Description HPO Frequency HPO Source Accession
1 spinocerebellar atrophy 31 HP:0007263

Symptoms via clinical synopsis from OMIM:

56
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 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
Content
Loading form....