MCID: INF150
MIFTS: 5

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

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

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

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

Name: Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 59

Characteristics:

Orphanet epidemiological data:

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infantile spams-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 59 ORPHA263410

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

MalaCards based summary : Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome An important gene associated with Infantile Spams-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 Spams-Psychomotor Retardation-Progressive Brain...

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

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

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

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

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

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

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Brain

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

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

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

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

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

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

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

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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