IHPMR
MCID: HYP717
MIFTS: 28

Hypotonia, Infantile, with Psychomotor Retardation (IHPMR)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 72 6
Ihpmr 57 72
Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hypotonia, infantile, with psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Hypotonia, Infantile, with Psychomotor Retardation

UniProtKB/Swiss-Prot : 72 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, infantile, with psychomotor retardation and characteristic facies 1 and hypotonia-speech impairment-severe cognitive delay syndrome. 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 eye, and related phenotypes are increased variability in muscle fiber diameter and global developmental delay

More information 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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 increased variability in muscle fiber diameter 31 occasional (7.5%) HP:0003557
2 global developmental delay 31 HP:0001263
3 delayed speech and language development 31 HP:0000750
4 neonatal hypotonia 31 HP:0001319
5 myopathy 31 HP:0003198
6 strabismus 31 HP:0000486
7 cryptorchidism 31 HP:0000028
8 respiratory insufficiency due to muscle weakness 31 HP:0002747
9 open mouth 31 HP:0000194
10 long face 31 HP:0000276
11 ventricular septal defect 31 HP:0001629
12 decreased fetal movement 31 HP:0001558
13 severe muscular hypotonia 31 HP:0006829
14 hypoplasia of the corpus callosum 31 HP:0002079
15 cranial nerve vi palsy 31 HP:0006897
16 myopathic facies 31 HP:0002058
17 dilation of lateral ventricles 31 HP:0006956

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
strabismus
abducens nerve palsy

Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Face:
myopathic facies

Prenatal Manifestations Movement:
decreased fetal movements

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness

Genitourinary External Genitalia Male:
cryptorchidism

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 (Updated 05-Apr-2021)

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:

40
Eye

Publications for Hypotonia, Infantile, with Psychomotor Retardation

Articles related to Hypotonia, Infantile, with Psychomotor Retardation:

# Title Authors PMID Year
1
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. 57 6
26358778 2015

Variations for Hypotonia, Infantile, with Psychomotor Retardation

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC174 NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp) SNV Pathogenic 222080 rs869025342 GRCh37: 3:14712701-14712701
GRCh38: 3:14671194-14671194
2 CCDC174 NM_016474.5(CCDC174):c.649C>T (p.Gln217Ter) SNV Pathogenic 997662 GRCh37: 3:14708379-14708379
GRCh38: 3:14666872-14666872
3 CCDC174 NM_016474.5(CCDC174):c.771dup (p.Glu258fs) Duplication Pathogenic 1033415 GRCh37: 3:14708974-14708975
GRCh38: 3:14667467-14667468
4 CCDC174 NM_016474.5(CCDC174):c.918dup (p.Ser307fs) Duplication Pathogenic 1033416 GRCh37: 3:14709648-14709649
GRCh38: 3:14668141-14668142
5 CCDC174 NM_016474.5(CCDC174):c.1183G>C (p.Asp395His) SNV Uncertain significance 1029604 GRCh37: 3:14712480-14712480
GRCh38: 3:14670973-14670973
6 CCDC174 NM_016474.5(CCDC174):c.472C>T (p.Pro158Ser) SNV Uncertain significance 1029605 GRCh37: 3:14703201-14703201
GRCh38: 3:14661694-14661694
7 CCDC174 NM_016474.5(CCDC174):c.521G>T (p.Arg174Leu) SNV Uncertain significance 1029606 GRCh37: 3:14706570-14706570
GRCh38: 3:14665063-14665063
8 CCDC174 NM_016474.5(CCDC174):c.86T>C (p.Phe29Ser) SNV Uncertain significance 1029607 GRCh37: 3:14695976-14695976
GRCh38: 3:14654469-14654469

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 UNC80 NALCN

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

Molecular functions related to Hypotonia, Infantile, with Psychomotor Retardation 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 Hypotonia, Infantile, with Psychomotor Retardation

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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