MCID: SPS186
MIFTS: 7

Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome

Categories: Rare diseases

Aliases & Classifications for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

MalaCards integrated aliases for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome:

Name: Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome 20
Spastic Quadriplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome 20

Classifications:



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Summaries for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3011 Definition A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.

MalaCards based summary : Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome, also known as spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome, is related to spastic quadriplegia, retinitis pigmentosa, and mental retardation. Related phenotypes are developmental regression and rod-cone dystrophy

Related Diseases for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Diseases related to Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic quadriplegia, retinitis pigmentosa, and mental retardation 11.5

Symptoms & Phenotypes for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Human phenotypes related to Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 developmental regression 31 frequent (33%) HP:0002376
2 rod-cone dystrophy 31 frequent (33%) HP:0000510
3 intellectual disability, profound 31 frequent (33%) HP:0002187
4 severely reduced visual acuity 31 frequent (33%) HP:0001141
5 infantile sensorineural hearing impairment 31 frequent (33%) HP:0008610

Drugs & Therapeutics for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Search Clinical Trials , NIH Clinical Center for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome

Genetic Tests for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Anatomical Context for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Publications for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Variations for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Expression for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Search GEO for disease gene expression data for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome.

Pathways for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

GO Terms for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

Sources for Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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