MCID: XLN187
MIFTS: 6

X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome

Categories: Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

MalaCards integrated aliases for X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome:

Name: X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: late childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA423479
ICD10 via Orphanet 34 E79.8

Summaries for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

MalaCards based summary : X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome An important gene associated with X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1). Affiliated tissues include eye.

Related Diseases for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Symptoms & Phenotypes for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Drugs & Therapeutics for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome

Genetic Tests for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Anatomical Context for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

MalaCards organs/tissues related to X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome:

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Eye

Publications for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Variations for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Expression for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome.

Pathways for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

GO Terms for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

Sources for X-Linked Intellectual Disability-Limb Spasticity-Retinal...

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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