IDDCA
MCID: INT313
MIFTS: 22

Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA)

Categories: Eye diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare 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 56 73 6
Iddca 56 73
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome 58
Intellectual Developmental Disorder, with Cardiac Arrhythmia 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
intellectual developmental disorder with cardiac arrhythmia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Intellectual Developmental Disorder with Cardiac Arrhythmia

OMIM : 56 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). Affiliated tissues include eye, and related phenotypes are seizures and intellectual disability

UniProtKB/Swiss-Prot : 73 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 nystagmus 31 HP:0000639
4 global developmental delay 31 HP:0001263
5 delayed speech and language development 31 HP:0000750
6 retinal degeneration 31 HP:0000546
7 abnormal electroretinogram 31 HP:0000512
8 generalized hypotonia 31 HP:0001290
9 bradycardia 31 HP:0001662
10 sick sinus syndrome 31 HP:0011704

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
speech delay

Cardiovascular Heart:
bradycardia
sick sinus syndrome
arrhythmias

Abdomen Gastrointestinal:
gastric reflux

Head And Neck Eyes:
nystagmus
retinal degeneration
abnormal electroretinogram

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Cardiac Arrhythmia:

40
Eye

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. 56 6
27523599 2016
2
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line. 61
31479876 2019
3
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. 61
29368331 2018
4
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient. 61
30631341 2018

Variations for Intellectual Developmental Disorder with Cardiac Arrhythmia

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNB5 NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)SNV Pathogenic 254029 rs761399728 15:52446144-52446144 15:52153947-52153947
2 GNB5 NM_016194.4(GNB5):c.375G>A (p.Gln125=)SNV Pathogenic 268098 rs886041054 15:52446137-52446137 15:52153940-52153940
3 GNB5 NM_016194.4(GNB5):c.1120C>T (p.Arg374Ter)SNV Pathogenic 268099 rs773902879 15:52416726-52416726 15:52124529-52124529
4 GNB5 NM_016194.4(GNB5):c.375+1G>TSNV Pathogenic 268100 rs886041055 15:52446136-52446136 15:52153939-52153939
5 GNB5 NM_016194.4(GNB5):c.375+3A>GSNV Pathogenic 268101 rs766004901 15:52446134-52446134 15:52153937-52153937
6 GNB5 NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)SNV Pathogenic 268102 rs749597091 15:52416814-52416814 15:52124617-52124617
7 GNB5 NM_016194.4(GNB5):c.348_352del (p.Asp116fs)deletion Pathogenic 426541 rs1085307675 15:52446160-52446164 15:52153963-52153967

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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