MCID: INF171
MIFTS: 13

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 58

Characteristics:

Orphanet epidemiological data:

58
infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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, and related phenotypes are global developmental delay and small basal ganglia

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

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

Human phenotypes related to Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 small basal ganglia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012697
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 restlessness 58 31 frequent (33%) Frequent (79-30%) HP:0000711
9 tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002273
10 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
11 loss of consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007185
12 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
13 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
14 abnormal brainstem mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012747
15 inappropriate crying 58 31 frequent (33%) Frequent (79-30%) HP:0030215
16 infantile encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0007105
17 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
18 spastic tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002510
19 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
20 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
21 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
22 functional motor deficit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004302
23 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
24 seizures 58 Frequent (79-30%)
25 abnormality of the basal ganglia 58 Very frequent (99-80%)

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
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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