Summaries for Hypotonia

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Wikipedia:63 Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle),... more...

MalaCards based summary: Hypotonia is related to prader-willi syndrome and mental retardation. 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:42 Hypotonia is a medical term used to describe decreased muscle tone.

Aliases & Classifications for Hypotonia

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Hypotonia, Aliases & Descriptions:

Name: Hypotonia 42


Related Diseases for Hypotonia

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Diseases in the Hypotonia family:

Infantile Hypotonia

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

(show top 50)    (show all 1014)
idRelated DiseaseScoreTop Affiliating Genes
1prader-willi syndrome30.6UBE3A, MAGEL2, MECP2
2mental retardation30.6GAMT, UBE3A, MECP2
3cystinuria30.5SLC3A1, PREPL
4microcephaly30.1UBE3A, MECP2
5angelman syndrome30.0UBE3A, MAGEL2, MECP2
6rett syndrome29.7UBE3A, MECP2
7developmental disabilities29.6UBE3A, MECP2
8infantile hypotonia10.4
9hypotonia-cystinuria syndrome10.3
10obesity10.3
11multiple congenital anomalies-hypotonia-seizures syndrome 210.2
12cohen syndrome10.2
13myopathy10.2
14succinic semialdehyde dehydrogenase deficiency10.1
15multiple congenital anomalies-hypotonia-seizures syndrome 110.1
16floppy infant syndrome10.1
17kleefstra syndrome10.1
18mitochondrial dna depletion syndrome 710.1
19koolen-de vries syndrome10.1
20phelan-mcdermid syndrome10.1
21cerebritis10.1
22ataxia10.1
23malonyl-coa decarboxylase deficiency10.1
24constipation10.1
25methylmalonic acidemia10.1
26fumarase deficiency10.0
27c syndrome10.0
28d-bifunctional protein deficiency10.0
29birk-barel mental retardation dysmorphism syndrome10.0
30joubert syndrome 110.0
31peroxisomal acyl-coa oxidase deficiency10.0
32pyruvate dehydrogenase e1-alpha deficiency10.0
33allan-herndon-dudley syndrome10.0
34arts syndrome10.0
35shprintzen-goldberg syndrome10.0
36spinal muscular atrophy, x-linked 2, infantile10.0
37myotubular myopathy, x-linked10.0
38qazi markouizos syndrome10.0
39amyotonia congenita10.0
40coarse face hypotonia constipation10.0
41grubben de cock borghgraef syndrome10.0
42short stature contractures hypotonia10.0
43radio-ulnar synostosis - intellectual disability - hypotonia10.0
44atypical hypotonia - cystinuria syndrome10.0
45multiple congenital anomalies - hypotonia - seizures syndrome10.0
46intellectual disability multi-gene panels10.0GAMT, UBE3A, MECP2
47pierson syndrome10.0
48achondroplasia10.0
49sotos syndrome 110.0
50central hypoventilation syndrome, congenital10.0

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:

31
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:

35
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 369)
idTitleAuthorsYear
1
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (25683120)
2015
2
Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis. (25738478)
2015
3
Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay. (24700535)
2014
4
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (24791903)
2014
5
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. (23626599)
2013
6
Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction. (24357343)
2013
7
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. (22210230)
2012
8
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
9
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. (22291068)
2012
10
The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. (21306869)
2011
11
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. (20485326)
2010
12
General anaesthesia for MRI in children with hypotonia: a case series. (20299996)
2010
13
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. (19734047)
2009
14
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? (19294900)
2009
15
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. (21686663)
2009
16
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
17
Finding new etiologies of mental retardation and hypotonia: X marks the spot. (18190539)
2008
18
Transitory hypotonia as a prognostic factor in combined procedures of phacoemulsification and deep sclerectomy. (19112864)
2008
19
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. (17065071)
2006
20
Hypotonia in a newborn: Unravelling more than expected. (19030263)
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
Pathologic quiz case: Male infant with generalized hypotonia and absence of respirations at birth,. (11260644)
2001
25
Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth. (10982486)
2000
26
Neonatal muscle hypotonia--an early manifestation of cerebral palsy. (11347335)
2000
27
Local invasion of gastric cancer: CT findings and pathologic correlation using 5-mm incremental scanning, hypotonia, and water filling. (9930788)
1999
28
Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X-linked mental retardation syndrome? (9843001)
1998
29
A 35-week neonate with respiratory failure, hypotonia, and joint contractures. (9018441)
1996
30
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. (8064821)
1994
31
Neonatal hypotonia. (8511422)
1993
32
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1605225)
1992
33
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. (2000272)
1991
34
Hypotonia at six years in prematurely-born or small-for-gestational-age children. (3208669)
1988
35
Ataxia and hypotonia in Haemophilus influenzae type b meningitis. (3257821)
1988
36
Hypotonia: an erroneous clinical concept? (3790972)
1986
37
Evaluation of the floppy infant, or congenital hypotonia. (3745901)
1986
38
Absence of later auditory brain stem response components, congenital horizontal nystagmus, and hypotonia in male infants. (3963694)
1986
39
Electrodiagnosis in the evaluation of progressive hypotonia in infancy with particular reference to infant botulism. (6950120)
1982
40
Medicinal treatment for relief of hypotonia in Down's Syndrome. (130644)
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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Search GEO for disease gene expression data for Hypotonia.

Pathways for genes affiliated with Hypotonia

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Pathways related to Hypotonia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2ACADS, ABAT
2
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
9.2ACADS, ABAT
3
Show member pathways
8.1GAMT, D2HGDH, ACADS, PIGN, ABAT

Compounds for genes affiliated with Hypotonia

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Hypotonia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ornithine43 2410.4SLC3A1, GAMT, ABAT
2valproate439.2MECP2, ABAT
3lysine439.2SLC3A1, UBE3A, ABAT
4gaba438.8SLC3A1, UBE3A, MECP2, ABAT
5alanine438.6ABAT, MECP2, UBE3A, SLC3A1
6glutamate438.3ABAT, MECP2, ACADS, SLC3A1

GO Terms for genes affiliated with Hypotonia

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Cellular components related to Hypotonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.9D2HGDH, ACADS, ABAT

Molecular functions related to Hypotonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.3D2HGDH, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet