MCID: INT313
MIFTS: 17

Intellectual Developmental Disorder with Cardiac Arrhythmia

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Cardiac Arrhythmia

MalaCards integrated aliases for Intellectual Developmental Disorder with Cardiac Arrhythmia:

Name: Intellectual Developmental Disorder with Cardiac Arrhythmia 57 75 6
Iddca 57 75
Intellectual Developmental Disorder, with Cardiac Arrhythmia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
some patients are severely affected with no head control, visual contact, or speech


HPO:

32
intellectual developmental disorder with cardiac arrhythmia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Cardiac Arrhythmia

OMIM : 57 Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016). (617173)

MalaCards based summary : Intellectual Developmental Disorder with Cardiac Arrhythmia, also known as iddca, is related to cardiac arrhythmia. An important gene associated with Intellectual Developmental Disorder with Cardiac Arrhythmia is GNB5 (G Protein Subunit Beta 5). Related phenotypes are abnormal electroretinogram and retinal degeneration

UniProtKB/Swiss-Prot : 75 Intellectual developmental disorder with cardiac arrhythmia: An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux.

Related Diseases for Intellectual Developmental Disorder with Cardiac Arrhythmia

Diseases related to Intellectual Developmental Disorder with Cardiac Arrhythmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardiac arrhythmia 10.0

Symptoms & Phenotypes for Intellectual Developmental Disorder with Cardiac Arrhythmia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
abnormal electroretinogram
retinal degeneration

Cardiovascular Heart:
sick sinus syndrome
bradycardia
arrhythmias

Abdomen Gastrointestinal:
gastric reflux

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
speech delay

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617173

Human phenotypes related to Intellectual Developmental Disorder with Cardiac Arrhythmia:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 HP:0000512
2 retinal degeneration 32 HP:0000546
3 nystagmus 32 HP:0000639
4 delayed speech and language development 32 HP:0000750
5 intellectual disability 32 HP:0001249
6 seizures 32 occasional (7.5%) HP:0001250
7 global developmental delay 32 HP:0001263
8 generalized hypotonia 32 HP:0001290
9 bradycardia 32 HP:0001662
10 sick sinus syndrome 32 HP:0011704

Drugs & Therapeutics for Intellectual Developmental Disorder with Cardiac Arrhythmia

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Cardiac Arrhythmia

Genetic Tests for Intellectual Developmental Disorder with Cardiac Arrhythmia

Anatomical Context for Intellectual Developmental Disorder with Cardiac Arrhythmia

Publications for Intellectual Developmental Disorder with Cardiac Arrhythmia

Articles related to Intellectual Developmental Disorder with Cardiac Arrhythmia:

# Title Authors Year
1
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. ( 29368331 )
2018

Variations for Intellectual Developmental Disorder with Cardiac Arrhythmia

ClinVar genetic disease variations for Intellectual Developmental Disorder with Cardiac Arrhythmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNB5 NM_006578.3(GNB5): c.249G> A (p.Gln83=) single nucleotide variant Pathogenic rs886041054 GRCh37 Chromosome 15, 52446137: 52446137
2 GNB5 NM_006578.3(GNB5): c.249G> A (p.Gln83=) single nucleotide variant Pathogenic rs886041054 GRCh38 Chromosome 15, 52153940: 52153940
3 GNB5 NM_006578.3(GNB5): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs773902879 GRCh38 Chromosome 15, 52124529: 52124529
4 GNB5 NM_006578.3(GNB5): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs773902879 GRCh37 Chromosome 15, 52416726: 52416726
5 GNB5 NM_006578.3(GNB5): c.249+1G> T single nucleotide variant Pathogenic rs886041055 GRCh37 Chromosome 15, 52446136: 52446136
6 GNB5 NM_006578.3(GNB5): c.249+1G> T single nucleotide variant Pathogenic rs886041055 GRCh38 Chromosome 15, 52153939: 52153939
7 GNB5 NM_006578.3(GNB5): c.249+3A> G single nucleotide variant Pathogenic rs766004901 GRCh37 Chromosome 15, 52446134: 52446134
8 GNB5 NM_006578.3(GNB5): c.249+3A> G single nucleotide variant Pathogenic rs766004901 GRCh38 Chromosome 15, 52153937: 52153937
9 GNB5 NM_006578.3(GNB5): c.906C> G (p.Tyr302Ter) single nucleotide variant Pathogenic rs749597091 GRCh37 Chromosome 15, 52416814: 52416814
10 GNB5 NM_006578.3(GNB5): c.906C> G (p.Tyr302Ter) single nucleotide variant Pathogenic rs749597091 GRCh38 Chromosome 15, 52124617: 52124617

Expression for Intellectual Developmental Disorder with Cardiac Arrhythmia

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Cardiac Arrhythmia.

Pathways for Intellectual Developmental Disorder with Cardiac Arrhythmia

GO Terms for Intellectual Developmental Disorder with Cardiac Arrhythmia

Sources for Intellectual Developmental Disorder with Cardiac Arrhythmia

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
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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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