MCID: HYP265
MIFTS: 40

Hypotonia malady

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Summaries for Hypotonia

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44NINDS, 65Wikipedia, 33MalaCards
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Wikipedia:65 Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle),... more...

MalaCards: Hypotonia, also known as hypotonicity, is related to mental retardation and prader-willi syndrome. An important gene associated with Hypotonia is PREPL (prolyl endopeptidase-like), and among its related pathways are Butanoate metabolism and Valine, leucine and isoleucine degradation. The compounds ornithine and valproate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related mouse phenotype homeostasis/metabolism.

NINDS:44 Hypotonia is a medical term used to describe decreased muscle tone.

Aliases & Classifications for Hypotonia

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44NINDS, 62UMLS
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Aliases & Descriptions:

hypotonia 44
hypotonicity 62


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 715)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.6GAMT, UBE3A, MECP2
2prader-willi syndrome30.4MECP2, MAGEL2, UBE3A
3cystinuria30.3PREPL, SLC3A1
4microcephaly30.1UBE3A, MECP2
5intellectual disability29.9MECP2, UBE3A, GAMT
6angelman syndrome29.8UBE3A, MAGEL2, MECP2
7rett syndrome29.6UBE3A, MECP2
8developmental disabilities29.6MECP2, UBE3A
9infantile hypotonia10.4
10hypotonia-cystinuria syndrome10.3
11obesity10.3
12myopathy10.2
13cerebritis10.2
14cohen syndrome10.2
15floppy infant syndrome10.2
16ataxia10.1
17constipation10.1
18multiple congenital anomalies-hypotonia-seizures syndrome 110.1
19succinic semialdehyde dehydrogenase deficiency10.1
20amyotonia congenita10.1
21goldberg-shprintzen megacolon syndrome10.1
22multiple congenital anomalies-hypotonia-seizures syndrome 210.1
23atypical hypotonia - cystinuria syndrome10.1
24focal segmental glomerulosclerosis10.0
25joubert syndrome10.0
26qazi markouizos syndrome10.0
27methylmalonic acidemia10.0
28retinitis10.0
29kleefstra syndrome10.0
30coarse face hypotonia constipation10.0
31grubben de cock borghgraef syndrome10.0
32short stature contractures hypotonia10.0
33hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
34radio-ulnar synostosis - intellectual disability - hypotonia10.0
35autistic disorder10.0UBE3A, MECP2
36brain disease10.0MECP2, ACADS
37epilepsy syndrome10.0ABAT, MECP2, UBE3A, GAMT
38nemaline myopathy10.0
39d-2-hydroxyglutaric aciduria10.0
40allan-herndon-dudley syndrome10.0
41arts syndrome10.0
42cataract10.0
43ehlers-danlos syndrome10.0
44galactosemia10.0
45hypogonadism10.0
46respiratory failure10.0
47synostosis10.0
48phelan-mcdermid syndrome10.0
49congenital nonprogressive myopathy with moebius and robin sequences10.0
50hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response10.0

Graphical network of the top 20 diseases related to Hypotonia:



Diseases related to hypotonia

Symptoms for Hypotonia

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Drugs & Therapeutics for Hypotonia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hypotonia

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

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Anatomical Context for Hypotonia

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33MalaCards
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MalaCards organs/tissues related to Hypotonia:

33
Brain, Eye, Bone, Skeletal muscle, Skin, Kidney, Testes, Prostate, Thyroid, Colon, Small intestine, Spinal cord, Globus pallidus

Animal Models for Hypotonia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hypotonia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7SLC3A1, GAMT, UBE3A, MAGEL2, ACADS, MECP2

Publications for Hypotonia

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52PubMed
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Articles related to Hypotonia:

(show top 50)    (show all 346)
idTitleAuthorsYear
1
Muscular Hypotonia with HypoglycA (20911122)
mia.
2
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. (23626599)
2013
3
Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction. (24357343)
2013
4
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. (22210230)
2012
5
Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness. (23072189)
2012
6
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. (22291068)
2012
7
The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. (21306869)
2011
8
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. (20485326)
2010
9
General anaesthesia for MRI in children with hypotonia: a case series. (20299996)
2010
10
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. (19734047)
2009
11
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? (19294900)
2009
12
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. (21686663)
2009
13
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. (19610086)
2009
14
Finding new etiologies of mental retardation and hypotonia: X marks the spot. (18190539)
2008
15
Transitory hypotonia as a prognostic factor in combined procedures of phacoemulsification and deep sclerectomy. (19112864)
2008
16
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. (17065071)
2006
17
Hypotonia in a newborn: Unravelling more than expected. (19030263)
2006
18
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. (16276108)
2006
19
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. (15902551)
2005
20
Midbrain disconnection: an aetiology of severe central neonatal hypotonia. (16055359)
2005
21
Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. (12514359)
2003
22
Hypotonia, congenital hearing loss, and hypoactive labyrinths. (12731641)
2003
23
Pathologic quiz case: Male infant with generalized hypotonia and absence of respirations at birth,. (11260644)
2001
24
Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth. (10982486)
2000
25
Neonatal muscle hypotonia--an early manifestation of cerebral palsy. (11347335)
2000
26
Local invasion of gastric cancer: CT findings and pathologic correlation using 5-mm incremental scanning, hypotonia, and water filling. (9930788)
1999
27
Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X-linked mental retardation syndrome? (9843001)
1998
28
A 35-week neonate with respiratory failure, hypotonia, and joint contractures. (9018441)
1996
29
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. (8064821)
1994
30
Neonatal hypotonia. (8511422)
1993
31
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1605225)
1992
32
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. (2000272)
1991
33
Hypotonia at six years in prematurely-born or small-for-gestational-age children. (3208669)
1988
34
Ataxia and hypotonia in Haemophilus influenzae type b meningitis. (3257821)
1988
35
Hypotonia: an erroneous clinical concept? (3790972)
1986
36
Evaluation of the floppy infant, or congenital hypotonia. (3745901)
1986
37
Absence of later auditory brain stem response components, congenital horizontal nystagmus, and hypotonia in male infants. (3963694)
1986
38
Electrodiagnosis in the evaluation of progressive hypotonia in infancy with particular reference to infant botulism. (6950120)
1982
39
Medicinal treatment for relief of hypotonia in Down's Syndrome. (130644)
1976
40
A follow up study of infantile hypotonia of central origin: hypotonic cerebral palsy. (1052631)
1976
41
Clinical experience with the Mentor bladder stimulator. III. Patients with urinary vesical hypotonia. (1117498)
1975
42
Neonatal hypotonia secondary to transplacental bromism. (4610424)
1974
43
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. (4717588)
1973
44
Electron-microscope findings on the muscle from an atypical case of infantile hypotonia. (4795542)
1973
45
Uterine hypotonia. (5315153)
1971
46
Uterine hypotonia. (5315945)
1971
47
A mechanism underlying cerebellar hypotonia. (4974857)
1968
48
INFANTILE HYPOTONIA: A CLINICAL STUDY. (14088333)
1963
49
Regulation of kidney function in exsiccosis; the role of cerebral hypotonia, hypoxemia and hypercapnia in the regulation of renal circulation]. (13166269)
1954
50
CONGENITAL HYPOTONIA (CONGENITAL AMYOPLASIA). (20763296)
1907

Variations for Hypotonia

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Expression for genes affiliated with Hypotonia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypotonia

Search GEO for disease gene expression data for Hypotonia.

Pathways for genes affiliated with Hypotonia

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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Hypotonia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2ACADS, ABAT
2
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
9.2ACADS, ABAT
3
Show member pathways
8.1GAMT, D2HGDH, ACADS, PIGN, ABAT

Compounds for genes affiliated with Hypotonia

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45Novoseek, 24HMDB
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Compounds related to Hypotonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ornithine45 2410.4SLC3A1, GAMT, ABAT
2valproate459.2MECP2, ABAT
3lysine459.2ABAT, UBE3A, SLC3A1
4gaba458.8SLC3A1, UBE3A, MECP2, ABAT
5alanine458.6ABAT, MECP2, UBE3A, SLC3A1
6glutamate458.3ABAT, MECP2, ACADS, 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:0057598.9D2HGDH, ACADS, ABAT

Molecular functions related to Hypotonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.3D2HGDH, ACADS

Products for genes affiliated with Hypotonia

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  • Antibodies
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Sources for Hypotonia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet