MCID: INF065
MIFTS: 21

Infantile Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Infantile Hypotonia

MalaCards integrated aliases for Infantile Hypotonia:

Name: Infantile Hypotonia 53

Classifications:



Summaries for Infantile Hypotonia

NINDS : 53 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 SYT1 (Synaptotagmin 1). Affiliated tissues include spinal cord, eye and skeletal muscle, and related phenotypes are Increased viability and growth/size/body region

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 50)
# Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 31.9 UNC80 NALCN
2 hypotonia 29.8 UNC80 TBCK NALCN CCDC174
3 strabismus 29.3 UNC80 NALCN AP4M1
4 alacrima, achalasia, and mental retardation syndrome 28.5 TBCK SYT1 MECP2 AP4M1
5 baker-gordon syndrome 11.4
6 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.1
7 unc80 deficiency 11.1
8 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.1
9 neurodevelopmental disorder with spastic paraplegia and microcephaly 11.0
10 lubs x-linked mental retardation syndrome 11.0
11 nemaline myopathy 3 10.9
12 smith-magenis syndrome 10.9
13 hypotonia-cystinuria syndrome 10.9
14 spastic paraplegia 50, autosomal recessive 10.9
15 pitt-hopkins-like syndrome 2 10.9
16 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 10.9
17 myopathy due to myoadenylate deaminase deficiency 10.9
18 buratti-harel syndrome 10.9
19 myopathy 10.1
20 angelman syndrome 10.0
21 glycogen storage disease 10.0
22 nemaline myopathy 10.0
23 leukodystrophy, hypomyelinating, 10 9.9 UNC80 NALCN
24 achondroplasia 9.8
25 diabetes insipidus, nephrogenic, autosomal 9.8
26 glycogen storage disease ii 9.8
27 glycogen storage disease iv 9.8
28 rett syndrome 9.8
29 ataxia and polyneuropathy, adult-onset 9.8
30 mental retardation, autosomal dominant 31 9.8
31 foodborne botulism 9.8
32 alternating hemiplegia of childhood 9.8
33 autosomal dominant non-syndromic intellectual disability 9.8
34 microcephaly 9.8
35 hemiplegia 9.8
36 hydronephrosis 9.8
37 allergic disease 9.8
38 cerebral palsy 9.8
39 neuromuscular disease 9.8
40 dystonia 9.8
41 mechanical strabismus 9.8
42 diabetes insipidus 9.8
43 encephalopathy 9.8
44 tremor 9.8
45 paroxysmal dystonia 9.8
46 lysosomal glycogen storage disease 9.8
47 bruxism 9.7 UNC80 MECP2
48 kagami-ogata syndrome 9.7 SYT1 MECP2
49 hypotonia, infantile, with psychomotor retardation 9.3 UNC80 TBCK NALCN CCDC174
50 disease of mental health 8.7 UNC80 TBCK SYT1 NALCN MECP2 AP4M1

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 8.32 MECP2

MGI Mouse Phenotypes related to Infantile Hypotonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 AP4M1 CCDC174 MECP2 NALCN SYT1 TBCK
2 mortality/aging MP:0010768 9.17 ACADS CCDC174 MECP2 NALCN SYT1 TBCK

Drugs & Therapeutics for Infantile Hypotonia

Search Clinical Trials , NIH Clinical Center for Infantile Hypotonia

Genetic Tests for Infantile Hypotonia

Anatomical Context for Infantile Hypotonia

MalaCards organs/tissues related to Infantile Hypotonia:

40
Spinal Cord, Eye, Skeletal Muscle

Publications for Infantile Hypotonia

Articles related to Infantile Hypotonia:

(show top 50) (show all 162)
# Title Authors PMID Year
1
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. 61
32430360 2021
2
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. 61
33443316 2021
3
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. 61
33229923 2021
4
Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder. 61
33093139 2020
5
Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome. 61
32427950 2020
6
Neurological phenotype of Potocki-Lupski syndrome. 61
33043631 2020
7
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. 61
32656927 2020
8
A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly. 61
32618095 2020
9
Anesthetic Management for a Patient With MECP2 Duplication Syndrome: A Case Report. 61
32784320 2020
10
MECP2 duplication syndrome in a patient from Cameroon. 61
32052928 2020
11
GNB1 Encephalopathy 61
32134617 2020
12
Genomic Analysis of Korean Patient With Microcephaly. 61
33584783 2020
13
A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature. 61
32943903 2020
14
Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion. 61
31991769 2020
15
Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index. 61
31313492 2019
16
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. 61
31409833 2019
17
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. 61
31066191 2019
18
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
19
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. 61
30103036 2019
20
Kabuki syndrome: international consensus diagnostic criteria. 61
30514738 2019
21
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. 61
31333129 2019
22
Intrauterine Growth Retardation Complicated by Biermer's Disease: An Observation in Togo. 61
31198611 2019
23
Periodic breathing in patients with NALCN mutations. 61
29968795 2018
24
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). 61
30167850 2018
25
SYT1-associated neurodevelopmental disorder: a case series. 61
30107533 2018
26
Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome. 61
29346558 2018
27
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. 61
29572195 2018
28
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome. 61
29399786 2018
29
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). 61
29430593 2018
30
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. 61
29496979 2018
31
A New Patient with Potocki-Lupski Syndrome: A Literature Review. 61
29441219 2018
32
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1. 61
29168298 2018
33
RAB18 Deficiency 61
29300443 2018
34
Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. 61
30209801 2018
35
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. 61
29141583 2017
36
Ethylmalonic Encephalopathy 61
28933811 2017
37
Microstructural white matter tract alteration in Prader-Willi syndrome: A diffusion tensor imaging study. 61
28834083 2017
38
[MECP2 duplication syndrome: a clinical analysis of three cases and literature review]. 61
28506334 2017
39
Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay. 61
28413209 2017
40
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 61
27811305 2017
41
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. 61
27939640 2017
42
Reduced gamma-aminobutyric acid is associated with emotional and behavioral problems in Prader-Willi syndrome. 61
27338833 2016
43
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. 61
27659713 2016
44
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. 61
27256512 2016
45
Congenital muscular dystrophy: from muscle to brain. 61
27576556 2016
46
Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China. 61
27180140 2016
47
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 61
26789910 2016
48
Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome. 61
25999300 2016
49
Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches. 61
26592417 2016
50
Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). 61
27894106 2016

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 8.96 MECP2 AP4M1
2 cation transmembrane transport GO:0098655 8.62 UNC80 NALCN

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

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 8.62 UNC80 NALCN

Sources for Infantile Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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