MCID: SPS194
MIFTS: 14

Spastic Paresis, Glaucoma, and Mental Retardation

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Spastic Paresis, Glaucoma, and Mental Retardation

MalaCards integrated aliases for Spastic Paresis, Glaucoma, and Mental Retardation:

Name: Spastic Paresis, Glaucoma, and Mental Retardation 54 29
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome 56
Spastic Paresis Glaucoma Mental Retardation 50

Characteristics:

Orphanet epidemiological data:

56
spastic paraplegia-glaucoma-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
spastic paresis, glaucoma, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 270850
Orphanet 56 ORPHA2818
UMLS via Orphanet 70 C1849113

Summaries for Spastic Paresis, Glaucoma, and Mental Retardation

MalaCards based summary : Spastic Paresis, Glaucoma, and Mental Retardation, is also known as spastic paraplegia-glaucoma-intellectual disability syndrome, and has symptoms including spastic paraplegia, glaucoma and intellectual disability.

Description from OMIM: 270850

Related Diseases for Spastic Paresis, Glaucoma, and Mental Retardation

Symptoms & Phenotypes for Spastic Paresis, Glaucoma, and Mental Retardation

Symptoms via clinical synopsis from OMIM:

54

Neuro:
mental retardation
spastic paraplegia

Eyes:
glaucoma


Clinical features from OMIM:

270850

Human phenotypes related to Spastic Paresis, Glaucoma, and Mental Retardation:

32
id Description HPO Frequency HPO Source Accession
1 spastic paraplegia 32 HP:0001258
2 glaucoma 32 HP:0000501
3 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Spastic Paresis, Glaucoma, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Spastic Paresis, Glaucoma, and Mental Retardation

Genetic Tests for Spastic Paresis, Glaucoma, and Mental Retardation

Genetic tests related to Spastic Paresis, Glaucoma, and Mental Retardation:

id Genetic test Affiliating Genes
1 Spastic Paresis, Glaucoma, and Mental Retardation 29

Anatomical Context for Spastic Paresis, Glaucoma, and Mental Retardation

Publications for Spastic Paresis, Glaucoma, and Mental Retardation

Variations for Spastic Paresis, Glaucoma, and Mental Retardation

Expression for Spastic Paresis, Glaucoma, and Mental Retardation

Search GEO for disease gene expression data for Spastic Paresis, Glaucoma, and Mental Retardation.

Pathways for Spastic Paresis, Glaucoma, and Mental Retardation

GO Terms for Spastic Paresis, Glaucoma, and Mental Retardation

Sources for Spastic Paresis, Glaucoma, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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