MCID: SPS194
MIFTS: 14

Spastic Paresis, Glaucoma, and Mental Retardation

Categories: Mental diseases, Neuronal diseases, Rare 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 53 28
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
spastic paraplegia-glaucoma-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
spastic paresis, glaucoma, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 270850
Orphanet 55 ORPHA2818
UMLS via Orphanet 70 C1849113
MedGen 39 C1849113

Summaries for Spastic Paresis, Glaucoma, and Mental Retardation

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

Description from OMIM: 270850

Related Diseases for Spastic Paresis, Glaucoma, and Mental Retardation

Diseases related to Spastic Paresis, Glaucoma, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia-glaucoma-intellectual disability syndrome 12.4

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

Symptoms via clinical synopsis from OMIM:

53
Neuro:
spastic paraplegia
mental retardation

Eyes:
glaucoma


Clinical features from OMIM:

270850

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

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 55 31 Very frequent (99-80%) HP:0001249
2 glaucoma 55 31 Very frequent (99-80%) HP:0000501
3 spasticity 55 Very frequent (99-80%)
4 spastic paraplegia 31 HP:0001258
5 paraplegia 55 Very frequent (99-80%)

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:

# Genetic test Affiliating Genes
1 Spastic Paresis, Glaucoma, and Mental Retardation 28

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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