Aliases & Classifications for Infantile Hypotonia

MalaCards integrated aliases for Infantile Hypotonia:

Name: Infantile Hypotonia 50

Summaries for Infantile Hypotonia

NINDS : 50 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 and hypotonia, infantile, with psychomotor retardation and characteristic facies 2. 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.

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

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 50-56-6 53477758 439302
2 Oxytocics Phase 1, 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:

38
Brain, Spinal Cord, Skeletal Muscle

Publications for Infantile Hypotonia

Articles related to Infantile Hypotonia:

(show all 19)
# 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
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
3
Infantile hypotonia with failure to thrive. ( 23569532 )
2012
4
Severe infantile hypotonia with ethylmalonic aciduria: case report. ( 18539996 )
2008
5
Infantile hypotonia as a presentation of Rett syndrome. ( 12210319 )
2002
6
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
7
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? ( 8196689 )
1994
8
Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. ( 3738662 )
1986
9
Cerebral infantile hypotonia. A developmental study. ( 6507196 )
1984
10
The diagnostic value of electromyography in infantile hypotonia. ( 7148759 )
1982
11
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. ( 581546 )
1979
12
Folic acid deficiency: a reversible cause of infantile hypotonia. ( 722448 )
1978
13
A follow up study of infantile hypotonia of central origin: hypotonic cerebral palsy. ( 1052631 )
1976
14
Electron-microscope findings on the muscle from an atypical case of infantile hypotonia. ( 4795542 )
1973
15
Glycogenosis. IV. A new cause of infantile hypotonia. ( 4502299 )
1972
16
Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. ( 5815441 )
1969
17
NEUROLOGY GRAND ROUNDS: INFANTILE HYPOTONIA. ( 14346140 )
1965
18
INFANTILE HYPOTONIA: A CLINICAL STUDY. ( 14088333 )
1963
19
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

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 8.62 AP4M1 MECP2

Sources for Infantile Hypotonia

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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