Aliases & Classifications for Infantile Hypotonia

MalaCards integrated aliases for Infantile Hypotonia:

Name: Infantile Hypotonia 54

Summaries for Infantile Hypotonia

NINDS : 54 Hypotonia is a medical term used to describe decreased muscle tone.  Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement.  It is not the same as muscle weakness, although the two conditions can co-exist.  Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract.  Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles.  The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders.  For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease.  Sometimes it may not be possible to find what causes the hypotonia.  Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control.  Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes.  Hypotonia does not affect intellect.  The opposite of hypotonia is hypertonia.

MalaCards based summary : Infantile Hypotonia is related to hypotonia-speech impairment-severe cognitive delay syndrome and hypotonia. An important gene associated with Infantile Hypotonia is CCDC174 (Coiled-Coil Domain Containing 174). The drugs Oxytocin and Oxytocics have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotype is Increased viability.

Related Diseases for Infantile Hypotonia

Graphical network of the top 20 diseases related to Infantile Hypotonia:



Diseases related to Infantile Hypotonia

Symptoms & Phenotypes for Infantile Hypotonia

GenomeRNAi Phenotypes related to Infantile Hypotonia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.02 ACADS AP4M1 MECP2 NALCN UNC80

Drugs & Therapeutics for Infantile Hypotonia

Drugs for Infantile Hypotonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 1, Phase 2,Phase 2 50-56-6 439302 53477758
2 Oxytocics Phase 1, Phase 2,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
2 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies Completed NCT01548521 Phase 1, Phase 2 Oxytocin
3 Myotubular Myopathy Event Study Completed NCT01840657
4 Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma Recruiting NCT02584413 Gadolinium contrast

Search NIH Clinical Center for Infantile Hypotonia

Genetic Tests for Infantile Hypotonia

Anatomical Context for Infantile Hypotonia

MalaCards organs/tissues related to Infantile Hypotonia:

41
Brain, Spinal Cord, Skeletal Muscle

Publications for Infantile Hypotonia

Articles related to Infantile Hypotonia:

(show all 20)
# Title Authors Year
1
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). ( 29430593 )
2018
2
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. ( 29572195 )
2018
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
Infantile hypotonia with failure to thrive. ( 23569532 )
2012
5
Severe infantile hypotonia with ethylmalonic aciduria: case report. ( 18539996 )
2008
6
Infantile hypotonia as a presentation of Rett syndrome. ( 12210319 )
2002
7
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
8
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? ( 8196689 )
1994
9
Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. ( 3738662 )
1986
10
Cerebral infantile hypotonia. A developmental study. ( 6507196 )
1984
11
The diagnostic value of electromyography in infantile hypotonia. ( 7148759 )
1982
12
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. ( 581546 )
1979
13
Folic acid deficiency: a reversible cause of infantile hypotonia. ( 722448 )
1978
14
A follow up study of infantile hypotonia of central origin: hypotonic cerebral palsy. ( 1052631 )
1976
15
Electron-microscope findings on the muscle from an atypical case of infantile hypotonia. ( 4795542 )
1973
16
Glycogenosis. IV. A new cause of infantile hypotonia. ( 4502299 )
1972
17
Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. ( 5815441 )
1969
18
NEUROLOGY GRAND ROUNDS: INFANTILE HYPOTONIA. ( 14346140 )
1965
19
INFANTILE HYPOTONIA: A CLINICAL STUDY. ( 14088333 )
1963
20
Differential diagnosis of infantile hypotonia. The use of the electromyograph and the developmental and neurologic examination as aids. ( 13789718 )
1961

Variations for Infantile Hypotonia

Expression for Infantile Hypotonia

Search GEO for disease gene expression data for Infantile Hypotonia.

Pathways for Infantile Hypotonia

GO Terms for Infantile Hypotonia

Biological processes related to Infantile Hypotonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 8.62 AP4M1 MECP2

Sources for Infantile Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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