MCID: HYP265
MIFTS: 41

Hypotonia malady

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Summaries for Hypotonia

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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 based summary: Hypotonia, also known as hypotonicity, is related to mental retardation and cystinuria. 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:43 Hypotonia is a medical term used to describe decreased muscle tone.

Aliases & Classifications for Hypotonia

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Hypotonia, Aliases & Descriptions:

Name: Hypotonia 43
 
Hypotonicity 62


Related Diseases for Hypotonia

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

(show top 50)    (show all 724)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.6GAMT, UBE3A, MECP2
2cystinuria30.6PREPL, SLC3A1
3prader-willi syndrome30.6MECP2, MAGEL2, UBE3A
4microcephaly30.2UBE3A, MECP2
5angelman syndrome29.9UBE3A, MAGEL2, MECP2
6rett syndrome29.8UBE3A, MECP2
7developmental disabilities29.7MECP2, UBE3A
8infantile hypotonia10.4
9obesity10.3
10hypotonia-cystinuria syndrome10.3
11myopathy10.2
12cohen syndrome10.2
13cerebritis10.2
14floppy infant syndrome10.2
15ataxia10.2
16multiple congenital anomalies-hypotonia-seizures syndrome 110.2
17succinic semialdehyde dehydrogenase deficiency10.1
18constipation10.1
19multiple congenital anomalies-hypotonia-seizures syndrome 210.1
20koolen de vries syndrome10.1
21qazi markouizos syndrome10.1
22methylmalonic acidemia10.1
23kleefstra syndrome10.1
24amyotonia congenita10.1
25goldberg-shprintzen megacolon syndrome10.1
26atypical hypotonia - cystinuria syndrome10.1
27allan-herndon-dudley syndrome10.0
28joubert syndrome10.0
29retinitis10.0
30coarse face hypotonia constipation10.0
31grubben de cock borghgraef syndrome10.0
32malonyl-coa decarboxylase deficiency10.0
33short stature contractures hypotonia10.0
34hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
35multiple congenital anomalies-hypotonia-seizures syndrome 310.0
36radio-ulnar synostosis - intellectual disability - hypotonia10.0
37intellectual disability multi-gene panels10.0MECP2, UBE3A, GAMT
38cataract10.0
39focal segmental glomerulosclerosis10.0
40fg syndrome10.0
41down syndrome10.0
42d-2-hydroxyglutaric aciduria10.0
43infantile onset spinocerebellar ataxia10.0
44birk-barel syndrome10.0
45arts syndrome10.0
46peroxisomal acyl-coa oxidase deficiency10.0
47nemaline myopathy10.0
48ehlers-danlos syndrome10.0
49hypogonadism10.0
50respiratory failure10.0

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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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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MalaCards organs/tissues related to Hypotonia:

32
Brain, Eye, Bone, Skeletal muscle, Kidney, Skin, Spinal cord, Small intestine, Colon, Thyroid, Prostate, Testes, Globus pallidus

Animal Models for Hypotonia or affiliated genes

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MGI Mouse Phenotypes related to Hypotonia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7SLC3A1, GAMT, UBE3A, MAGEL2, ACADS, MECP2

Publications for Hypotonia

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Articles related to Hypotonia:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay. (24700535)
2014
2
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (24791903)
2014
3
Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism. (24795558)
2014
4
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. (23626599)
2013
5
Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction. (24357343)
2013
6
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. (22210230)
2012
7
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
8
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. (22291068)
2012
9
The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. (21306869)
2011
10
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. (20485326)
2010
11
General anaesthesia for MRI in children with hypotonia: a case series. (20299996)
2010
12
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. (19734047)
2009
13
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? (19294900)
2009
14
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. (21686663)
2009
15
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
16
Finding new etiologies of mental retardation and hypotonia: X marks the spot. (18190539)
2008
17
Transitory hypotonia as a prognostic factor in combined procedures of phacoemulsification and deep sclerectomy. (19112864)
2008
18
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. (17065071)
2006
19
Hypotonia in a newborn: Unravelling more than expected. (19030263)
2006
20
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. (16276108)
2006
21
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. (15902551)
2005
22
Midbrain disconnection: an aetiology of severe central neonatal hypotonia. (16055359)
2005
23
Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. (12514359)
2003
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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Expression patterns in normal tissues for genes affiliated with Hypotonia

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Pathways for genes affiliated with Hypotonia

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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 I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
9.2ACADS, ABAT
3
Show member pathways
8.1GAMT, D2HGDH, ACADS, PIGN, ABAT

Compounds for genes affiliated with Hypotonia

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

idCompoundScoreTop Affiliating Genes
1ornithine44 2410.4SLC3A1, GAMT, ABAT
2valproate449.2MECP2, ABAT
3lysine449.2SLC3A1, UBE3A, ABAT
4gaba448.8SLC3A1, UBE3A, MECP2, ABAT
5alanine448.6ABAT, MECP2, UBE3A, SLC3A1
6glutamate448.3ABAT, MECP2, ACADS, SLC3A1

GO Terms for genes affiliated with Hypotonia

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet