IDDCA
MCID: INT313
MIFTS: 19

Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA)

Categories: Eye diseases, Gastrointestinal diseases, 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 74 6
Iddca 57 74
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:



External Ids:

OMIM 57 617173

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 seizures and nystagmus

UniProtKB/Swiss-Prot : 74 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 10.1

Symptoms & Phenotypes for Intellectual Developmental Disorder with Cardiac Arrhythmia

Human phenotypes related to Intellectual Developmental Disorder with Cardiac Arrhythmia:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
abnormal electroretinogram
retinal degeneration

Cardiovascular Heart:
bradycardia
sick sinus syndrome
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

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 PMID Year
1
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. 8 71
27523599 2016
2
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. 38
29368331 2018
3
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient. 38
30631341 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 GRCh37 Pos GRCh38 Pos
1 GNB5 NM_016194.4(GNB5): c.348_352del (p.Asp116fs) deletion Pathogenic rs1085307675 15:52446160-52446164 15:52153963-52153967
2 GNB5 NM_016194.4(GNB5): c.368C> T (p.Ser123Leu) single nucleotide variant Pathogenic rs761399728 15:52446144-52446144 15:52153947-52153947
3 GNB5 NM_016194.4(GNB5): c.375G> A (p.Gln125=) single nucleotide variant Pathogenic rs886041054 15:52446137-52446137 15:52153940-52153940
4 GNB5 NM_016194.4(GNB5): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs773902879 15:52416726-52416726 15:52124529-52124529
5 GNB5 NM_016194.4(GNB5): c.375+1G> T single nucleotide variant Pathogenic rs886041055 15:52446136-52446136 15:52153939-52153939
6 GNB5 NM_016194.4(GNB5): c.375+3A> G single nucleotide variant Pathogenic rs766004901 15:52446134-52446134 15:52153937-52153937
7 GNB5 NM_016194.4(GNB5): c.1032C> G (p.Tyr344Ter) single nucleotide variant Pathogenic rs749597091 15:52416814-52416814 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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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