MCID: HYP717
MIFTS: 26

Hypotonia, Infantile, with Psychomotor Retardation

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypotonia, Infantile, with Psychomotor Retardation

MalaCards integrated aliases for Hypotonia, Infantile, with Psychomotor Retardation:

Name: Hypotonia, Infantile, with Psychomotor Retardation 57 75 6
Ihpmr 57 75
Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero or at birth
two unrelated families have been reported (last curated february 2016)


HPO:

32
hypotonia, infantile, with psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotonia, Infantile, with Psychomotor Retardation

UniProtKB/Swiss-Prot : 75 Hypotonia, infantile, with psychomotor retardation: An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects.

MalaCards based summary : Hypotonia, Infantile, with Psychomotor Retardation, also known as ihpmr, is related to hypotonia-speech impairment-severe cognitive delay syndrome and hypotonia, infantile, with psychomotor retardation and characteristic facies 1. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation is CCDC174 (Coiled-Coil Domain Containing 174), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include brain and eye, and related phenotypes are cryptorchidism and open mouth

Description from OMIM: 616816

Related Diseases for Hypotonia, Infantile, with Psychomotor Retardation

Graphical network of the top 20 diseases related to Hypotonia, Infantile, with Psychomotor Retardation:



Diseases related to Hypotonia, Infantile, with Psychomotor Retardation

Symptoms & Phenotypes for Hypotonia, Infantile, with Psychomotor Retardation

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency due to muscle weakness

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
myopathic facies

Prenatal Manifestations Movement:
decreased fetal movements

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness

Head And Neck Eyes:
strabismus
abducens nerve palsy

Head And Neck Mouth:
open mouth

Neurologic Central Nervous System:
delayed psychomotor development
enlarged ventricles (in some patients)
thin corpus callosum (in some patients)
poor speech acquisition

Cardiovascular Heart:
cardiac septal defects

Muscle Soft Tissue:
hypotonia, neonatal, severe
myopathic changes see on muscle biopsy
increased fibrosis (in some patients)
increased variation in fiber size (in some patients)
small atrophic fibers (in some patients)
more

Clinical features from OMIM:

616816

Human phenotypes related to Hypotonia, Infantile, with Psychomotor Retardation:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 open mouth 32 HP:0000194
3 long face 32 HP:0000276
4 strabismus 32 HP:0000486
5 delayed speech and language development 32 HP:0000750
6 global developmental delay 32 HP:0001263
7 neonatal hypotonia 32 HP:0001319
8 decreased fetal movement 32 HP:0001558
9 ventricular septal defect 32 HP:0001629
10 myopathic facies 32 HP:0002058
11 hypoplasia of the corpus callosum 32 HP:0002079
12 respiratory insufficiency due to muscle weakness 32 HP:0002747
13 myopathy 32 HP:0003198
14 increased variability in muscle fiber diameter 32 occasional (7.5%) HP:0003557
15 severe muscular hypotonia 32 HP:0006829
16 dilation of lateral ventricles 32 HP:0006956

Drugs & Therapeutics for Hypotonia, Infantile, with Psychomotor Retardation

Search Clinical Trials , NIH Clinical Center for Hypotonia, Infantile, with Psychomotor Retardation

Genetic Tests for Hypotonia, Infantile, with Psychomotor Retardation

Anatomical Context for Hypotonia, Infantile, with Psychomotor Retardation

MalaCards organs/tissues related to Hypotonia, Infantile, with Psychomotor Retardation:

41
Brain, Eye

Publications for Hypotonia, Infantile, with Psychomotor Retardation

Variations for Hypotonia, Infantile, with Psychomotor Retardation

ClinVar genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC174 NM_016474.4(CCDC174): c.1404A> G (p.Ter468Trp) single nucleotide variant Pathogenic rs869025342 GRCh37 Chromosome 3, 14712701: 14712701
2 CCDC174 NM_016474.4(CCDC174): c.1404A> G (p.Ter468Trp) single nucleotide variant Pathogenic rs869025342 GRCh38 Chromosome 3, 14671194: 14671194

Expression for Hypotonia, Infantile, with Psychomotor Retardation

Search GEO for disease gene expression data for Hypotonia, Infantile, with Psychomotor Retardation.

Pathways for Hypotonia, Infantile, with Psychomotor Retardation

Pathways related to Hypotonia, Infantile, with Psychomotor Retardation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 NALCN UNC80

GO Terms for Hypotonia, Infantile, with Psychomotor Retardation

Biological processes related to Hypotonia, Infantile, with Psychomotor Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 8.62 NALCN UNC80

Sources for Hypotonia, Infantile, with Psychomotor Retardation

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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