MCID: INF065
MIFTS: 19

Infantile Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Infantile Hypotonia

MalaCards integrated aliases for Infantile Hypotonia:

Name: Infantile Hypotonia 54

Classifications:



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

Diseases in the Hypotonia family:

Infantile Hypotonia

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 32.1 NALCN UNC80
2 hypotonia 30.1 CCDC174 MECP2 NALCN UNC80
3 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 12.1
4 mental retardation, autosomal recessive 49 11.1
5 unc80 deficiency 11.1
6 lubs x-linked mental retardation syndrome 11.0
7 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.0
8 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.0
9 nemaline myopathy 3 10.9
10 smith-magenis syndrome 10.9
11 hypotonia-cystinuria syndrome 10.9
12 spastic paraplegia 50, autosomal recessive 10.9
13 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 10.9
14 myopathy due to myoadenylate deaminase deficiency 10.9
15 cerebellum agenesis hydrocephaly 10.9
16 myopathy 10.0
17 achondroplasia 9.9
18 diabetes insipidus, nephrogenic, autosomal 9.9
19 rett syndrome 9.9
20 cerebral palsy 9.9
21 alternating hemiplegia of childhood 9.9
22 hemiplegia 9.9
23 nemaline myopathy 9.9
24 dystonia 9.9
25 diabetes insipidus 9.9
26 visual epilepsy 9.9 MECP2 NALCN
27 strabismus 9.8 AP4M1 NALCN
28 bruxism 9.8 MECP2 UNC80
29 hypotonia, infantile, with psychomotor retardation 9.7 CCDC174 NALCN UNC80

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 Not Applicable Gadolinium contrast
5 Evaluation of the Xen Implant in Glaucoma Surgery Recruiting NCT03733600

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, Cerebellum

Publications for Infantile Hypotonia

Articles related to Infantile Hypotonia:

(show all 21)
# 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
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. ( 30103036 )
2018
4
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
5
Infantile hypotonia with failure to thrive. ( 23569532 )
2012
6
Severe infantile hypotonia with ethylmalonic aciduria: case report. ( 18539996 )
2008
7
Infantile hypotonia as a presentation of Rett syndrome. ( 12210319 )
2002
8
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
9
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? ( 8196689 )
1994
10
Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. ( 3738662 )
1986
11
Cerebral infantile hypotonia. A developmental study. ( 6507196 )
1984
12
The diagnostic value of electromyography in infantile hypotonia. ( 7148759 )
1982
13
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. ( 581546 )
1979
14
Folic acid deficiency: a reversible cause of infantile hypotonia. ( 722448 )
1978
15
A follow up study of infantile hypotonia of central origin: hypotonic cerebral palsy. ( 1052631 )
1976
16
Electron-microscope findings on the muscle from an atypical case of infantile hypotonia. ( 4795542 )
1973
17
Glycogenosis. IV. A new cause of infantile hypotonia. ( 4502299 )
1972
18
Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. ( 5815441 )
1969
19
NEUROLOGY GRAND ROUNDS: INFANTILE HYPOTONIA. ( 14346140 )
1965
20
INFANTILE HYPOTONIA: A CLINICAL STUDY. ( 14088333 )
1963
21
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
44 MeSH
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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