MCID: HYP265
MIFTS: 43

Hypotonia malady

Summaries for Hypotonia

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 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 skin, spinal cord and brain.

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

Aliases & Classifications for Hypotonia

Sources:
44NINDS, 61UMLS
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Aliases & Descriptions:

hypotonia 44
hypotonicity 61


Related Diseases for Hypotonia

Sources:
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 743)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.6OGDH, UBE3A, GAMT, MECP2
2prader-willi syndrome30.4MECP2, UBE3A, MAGEL2
3cystinuria30.2SLC3A1, PREPL
4rett syndrome29.5UBE3A, MECP2
5infantile hypotonia10.4
6mental retardation-hypotonic facies syndrome x-linked, 110.3
7hypotonia-cystinuria syndrome10.3
8mental retardation-hypotonic facies syndrome, x-linked10.3
9n syndrome10.2
10cohen syndrome10.2
11floppy infant syndrome10.1
12ataxia10.1
13hypotonic sclerotic muscular dystrophy10.1
14multiple congenital anomalies-hypotonia-seizures syndrome 110.1
15nemaline myopathy10.0
16microcephaly10.0
17succinic semialdehyde dehydrogenase deficiency10.0
18micro syndrome10.0
19char syndrome10.0
20kleefstra syndrome10.0
21amyotonia congenita10.0
22goldberg-shprintzen megacolon syndrome10.0
23multiple congenital anomalies-hypotonia-seizures syndrome 210.0
24atypical hypotonia - cystinuria syndrome10.0
25nephronophthisis10.0
26superior mesenteric artery syndrome10.0
27ehlers-danlos syndrome progeroid type10.0
28congenital nystagmus10.0
29down syndrome10.0
30qazi markouizos syndrome10.0
31joubert syndrome10.0
32ehlers–danlos syndrome10.0
33coarse face hypotonia constipation10.0
34grubben de cock borghgraef syndrome10.0
35ehlers-danlos syndrome kyphoscoliotic type10.0
36short stature contractures hypotonia10.0
37hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
38radio-ulnar synostosis - intellectual deficit - hypotonia10.0
39autistic disorder10.0ABAT, MECP2, UBE3A
40epilepsy syndrome10.0UBE3A, ABAT, GAMT, MECP2
41tuberculosis10.0OGDH
42intellectual disability10.0GAMT, MECP2, UBE3A
43type i ehlers-danlos syndrome9.9
44infantile onset spinocerebellar ataxia9.9
45arts syndrome9.9
46focal glomerulosclerosis9.9
47synostosis9.9
481p36 deletion syndrome9.9
49fumarate hydratase deficiency9.9
50phelan-mcdermid syndrome9.9

Graphical network of the top 20 diseases related to Hypotonia:



Diseases related to hypotonia

Clinical Features for Hypotonia

Drugs & Therapeutics for Hypotonia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypotonia:

33
Skin, Spinal cord, Brain, Kidney, Skeletal muscle, Small intestine, Colon, Thyroid, Prostate, Fetal brain, Globus pallidus, Fetal thyroid

Animal Models for Hypotonia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hypotonia

Sources:
51PubMed
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Articles related to Hypotonia:

(show top 50)    (show all 351)
idTitleAuthorsYear
1
Hypotonia and poor feeding in an infant exposed to lamotrigine and valproic acid in utero. (24382540)
2013
2
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. (24075186)
2013
3
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. (23125284)
2013
4
The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. (21306869)
2011
5
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature. (21834054)
2011
6
General anaesthesia for MRI in children with hypotonia: a case series. (20299996)
2010
7
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? (19294900)
2009
8
Teaching NeuroImages: Molar tooth sign with hypotonia, ataxia, and nystagmus (Joubert syndrome) and hypothyroidism. (20018634)
2009
9
A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. (19610083)
2009
10
Finding new etiologies of mental retardation and hypotonia: X marks the spot. (18190539)
2008
11
Severe infantile hypotonia with ethylmalonic aciduria: case report. (18539996)
2008
12
Hypotonia, weakness, and pontocerebellar hypoplasia in siblings. (19073313)
2008
13
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. (16385448)
2006
14
LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. (16898484)
2006
15
Endoscopic findings in children with obstructive sleep apnea: effects of age and hypotonia. (15957182)
2005
16
A schematic approach to hypotonia in infancy. (19668647)
2005
17
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). (15510104)
2004
18
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. (12868476)
2003
19
Benign congenital hypotonia is not a diagnosis. (11995898)
2002
20
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. (11343336)
2001
21
Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth. (10982486)
2000
22
Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X-linked mental retardation syndrome? (9843001)
1998
23
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. (9842650)
1998
24
Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males. (9001801)
1996
25
Congenital fumarase deficiency presenting with hypotonia and areflexia. (8734035)
1996
26
Interstitial space, electrical resistance and ion concentrations during hypotonia of rat hippocampal slices. (8544131)
1995
27
Hemiatrophy, juvenile-onset exertional alternating leg paresis, hypotonia, and hemidystonia and adult-onset hemiparkinsonism: the spectrum of hemiparkinsonism-hemiatrophy syndrome. (7565831)
1995
28
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. (8064821)
1994
29
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? (8196689)
1994
30
Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]. (7504882)
1993
31
Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity. (1378778)
1992
32
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. (1785632)
1991
33
Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs. (2063891)
1991
34
State-dependent hypotonia in posterior cricoarytenoid muscles of the larynx caused by cholinoceptive reticular mechanisms. (2920876)
1989
35
Benign congenital hypotonia. A clinical study in 43 children. (3653132)
1987
36
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. (6862997)
1983
37
Hypotonia in infants and children. (6922153)
1982
38
Congenital hypotonia due to myosin degeneration. (508136)
1979
39
Hypotonia in infancy. (1077757)
1976
40
Clinical experience with the Mentor bladder stimulator. III. Patients with urinary vesical hypotonia. (1117498)
1975
41
Trunk rigidity and limb hypotonia produced in squirrel monkeys by direct cholinergic stimulation of the globus pallidus. (4208189)
1974
42
Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children. (4381583)
1967
43
The concept of normal muscle tone, hypotonia and hypertonia. (5904919)
1966
44
MAY-HEGGLIN ANOMALY ASSOCIATED WITH GLOSSITIS, PHARYNGITIS AND MUSCULAR HYPOTONIA. (14208037)
1964
45
Differential diagnosis of infantile hypotonia. The use of the electromyograph and the developmental and neurologic examination as aids. (13789718)
1961
46
Congenital laxity of the ligaments with hypotonia. (13249627)
1955
47
Hypotonia. (13202047)
1954
48
Hypotonia of the bladder in chronic prostatitis. (14914371)
1951
49
Hypotonia following contusion. (21024425)
1944-1945
50
CONGENITAL HYPOTONIA (CONGENITAL AMYOPLASIA). (20763296)
1907

Genetic Variations for Hypotonia

Expression for genes affiliated with Hypotonia

Sources:
1BioGPS, 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

Sources:
54Reactome, 30KEGG, 50PharmGKB
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Compounds for genes affiliated with Hypotonia

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

idCompoundScoreTop Affiliating Genes
1gaba4510.8SLC3A1, ABAT, MECP2, UBE3A, OGDH
2glutamate4510.8ACADS, SLC3A1, ABAT, MECP2, OGDH
3succinic semialdehyde4510.5ABAT, OGDH
4ornithine45 2411.4GAMT, ABAT, SLC3A1

GO Terms for genes affiliated with Hypotonia

Sources:
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

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Sources for Hypotonia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet