MCID: HYP265
MIFTS: 30

Hypotonia malady

Summaries for Hypotonia

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43NINDS, 63Wikipedia, 32MalaCards
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Wikipedia:63 Hypotonia (from Ancient Greek ὑπο- hypo-, \"under\" and τόνος tónos from τείνω teinō,... more...

MalaCards: Hypotonia, also known as hypotonicity, is related to prader-willi syndrome and cystinuria. An important gene associated with Hypotonia is PREPL (prolyl endopeptidase-like), and among its related pathways are Metabolism and Post-translational modification: synthesis of GPI-anchored proteins. The compounds gaba and glutamate have been mentioned in the context of this disorder. Affiliated tissues include brain.

NINDS:43 Hypotonia is a medical term used to describe decreased muscle tone.

Aliases & Classifications for Hypotonia

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43NINDS, 60UMLS
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Aliases & Descriptions:

hypotonia 43
hypotonicity 60


Related Diseases for Hypotonia

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17GeneCards, 18GeneDecks
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Diseases related to Hypotonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 752)
idRelated DiseaseScoreTop Affiliating Genes
1prader-willi syndrome30.4MAGEL2, MECP2, UBE3A
2cystinuria30.2PREPL, SLC3A1
3intellectual disability29.8UBE3A, GAMT, MECP2
4epilepsy syndrome29.5UBE3A, GAMT, MECP2, ABAT
5rett syndrome29.5MECP2, UBE3A
6mental retardation-hypotonic facies syndrome x-linked, 110.3
7obesity10.2
8mental retardation-hypotonic facies syndrome, x-linked10.2
9myopathy10.2
10cohen syndrome10.1
11cerebritis10.1
12floppy infant syndrome10.1
13succinic semialdehyde dehydrogenase deficiency10.1
14constipation10.1
15hypotonia-cystinuria syndrome10.1
16multiple congenital anomalies-hypotonia-seizures syndrome 110.1
17nemaline myopathy10.0
18microcephaly10.0
19methylmalonic acidemia10.0
20kleefstra syndrome10.0
21amyotonia congenita10.0
22goldberg-shprintzen megacolon syndrome10.0
23infantile hypotonia10.0
24multiple congenital anomalies-hypotonia-seizures syndrome 210.0
25nephronophthisis10.0
26superior mesenteric artery syndrome10.0
27ehlers-danlos syndrome progeroid type10.0
28hypotonic sclerotic muscular dystrophy10.0
29mental retardation10.0MECP2, GAMT, UBE3A, OGDH
30autistic disorder10.0UBE3A, MECP2, ABAT
31tuberculosis10.0OGDH
32congenital nystagmus10.0
33qazi markouizos syndrome10.0
34joubert syndrome10.0
35ehlers-danlos syndrome10.0
36respiratory failure10.0
37retinitis10.0
38coarse face hypotonia constipation10.0
39grubben de cock borghgraef syndrome10.0
40short stature contractures hypotonia10.0
41hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
42radio-ulnar synostosis - intellectual deficit - hypotonia10.0
43type vi ehlers-danlos syndrome9.9
44fg syndrome9.9
45d-2-hydroxyglutaric aciduria9.9
46infantile onset spinocerebellar ataxia9.9
47arts syndrome9.9
48adult syndrome9.9
49focal glomerulosclerosis9.9
50peroxisomal acyl-coa oxidase deficiency9.9

Graphical network of the top 20 diseases related to Hypotonia:



Diseases related to hypotonia

Clinical Features for Hypotonia

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Drugs & Therapeutics for Hypotonia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Hypotonia

Search NIH Clinical Center for Hypotonia

Search CenterWatch for Hypotonia

Genetic Tests for Hypotonia

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Anatomical Context for Hypotonia

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32MalaCards
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MalaCards organs/tissues related to Hypotonia:

32
Brain

Animal Models for Hypotonia or affiliated genes

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Publications for Hypotonia

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Genetic Variations for Hypotonia

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Expression for genes affiliated with Hypotonia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypotonia

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Pathways for genes affiliated with Hypotonia

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53Reactome, 29KEGG, 49PharmGKB
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Compounds for genes affiliated with Hypotonia

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44Novoseek, 24HMDB
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Compounds related to Hypotonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gaba4410.8SLC3A1, ABAT, MECP2, UBE3A, OGDH
2glutamate4410.8ACADS, SLC3A1, ABAT, MECP2, OGDH
3succinic semialdehyde4410.5ABAT, OGDH
4ornithine44 2411.4GAMT, ABAT, SLC3A1

GO Terms for genes affiliated with Hypotonia

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16Gene Ontology
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Cellular components related to Hypotonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00575910.8ACADS, ABAT, D2HGDH, OGDH

Biological processes related to Hypotonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:00650110.6PIGN, PIGA
22-oxoglutarate metabolic processGO:00610310.5D2HGDH, OGDH
3preassembly of GPI anchor in ER membraneGO:01625410.3PIGN, PIGA

Products for genes affiliated with Hypotonia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypotonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet