MCID: SPS194
MIFTS: 13

Spastic Paresis, Glaucoma, and Mental Retardation

Categories: Neuronal diseases, Rare 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 57 29
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
spastic paraplegia-glaucoma-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 270850
Orphanet 59 ORPHA2818
UMLS via Orphanet 74 C1849113
MedGen 42 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. Related phenotypes are intellectual disability and glaucoma

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:

57
Neuro:
spastic paraplegia
mental retardation

Eyes:
glaucoma


Clinical features from OMIM:

270850

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

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
2 glaucoma 59 32 Very frequent (99-80%) HP:0000501
3 spasticity 59 Very frequent (99-80%)
4 spastic paraplegia 32 HP:0001258
5 paraplegia 59 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 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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