MCID: INF171
MIFTS: 5

Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

MalaCards integrated aliases for Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome:

Name: Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 60

Characteristics:

Orphanet epidemiological data:

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infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 ORPHA263410

Summaries for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

MalaCards based summary : Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome An important gene associated with Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome is SLC19A3 (Solute Carrier Family 19 Member 3). Affiliated tissues include brain.

Related Diseases for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Symptoms & Phenotypes for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Drugs & Therapeutics for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Search Clinical Trials , NIH Clinical Center for Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome

Genetic Tests for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Anatomical Context for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

MalaCards organs/tissues related to Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome:

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Brain

Publications for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Variations for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Expression for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Search GEO for disease gene expression data for Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome.

Pathways for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

GO Terms for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

Sources for Infantile Spasms-Psychomotor Retardation-Progressive Brain...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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