IDDCA
MCID: INT313
MIFTS: 18

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 58 76 6
Iddca 58 76
Intellectual Developmental Disorder, with Cardiac Arrhythmia 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
intellectual developmental disorder with cardiac arrhythmia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Cardiac Arrhythmia

OMIM : 58 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 : 76 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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 nystagmus 33 HP:0000639
3 intellectual disability 33 HP:0001249
4 global developmental delay 33 HP:0001263
5 delayed speech and language development 33 HP:0000750
6 abnormal electroretinogram 33 HP:0000512
7 generalized hypotonia 33 HP:0001290
8 sick sinus syndrome 33 HP:0011704
9 retinal degeneration 33 HP:0000546
10 bradycardia 33 HP:0001662

Symptoms via clinical synopsis from OMIM:

58
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

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 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNB5 NM_006578.3(GNB5): c.242C> T (p.Ser81Leu) single nucleotide variant Pathogenic rs761399728 GRCh37 Chromosome 15, 52446144: 52446144
2 GNB5 NM_006578.3(GNB5): c.242C> T (p.Ser81Leu) single nucleotide variant Pathogenic rs761399728 GRCh38 Chromosome 15, 52153947: 52153947
3 GNB5 NM_006578.3(GNB5): c.249G> A (p.Gln83=) single nucleotide variant Pathogenic rs886041054 GRCh37 Chromosome 15, 52446137: 52446137
4 GNB5 NM_006578.3(GNB5): c.249G> A (p.Gln83=) single nucleotide variant Pathogenic rs886041054 GRCh38 Chromosome 15, 52153940: 52153940
5 GNB5 NM_006578.3(GNB5): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs773902879 GRCh38 Chromosome 15, 52124529: 52124529
6 GNB5 NM_006578.3(GNB5): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs773902879 GRCh37 Chromosome 15, 52416726: 52416726
7 GNB5 NM_006578.3(GNB5): c.249+1G> T single nucleotide variant Pathogenic rs886041055 GRCh37 Chromosome 15, 52446136: 52446136
8 GNB5 NM_006578.3(GNB5): c.249+1G> T single nucleotide variant Pathogenic rs886041055 GRCh38 Chromosome 15, 52153939: 52153939
9 GNB5 NM_006578.3(GNB5): c.249+3A> G single nucleotide variant Pathogenic rs766004901 GRCh37 Chromosome 15, 52446134: 52446134
10 GNB5 NM_006578.3(GNB5): c.249+3A> G single nucleotide variant Pathogenic rs766004901 GRCh38 Chromosome 15, 52153937: 52153937
11 GNB5 NM_006578.3(GNB5): c.906C> G (p.Tyr302Ter) single nucleotide variant Pathogenic rs749597091 GRCh37 Chromosome 15, 52416814: 52416814
12 GNB5 NM_006578.3(GNB5): c.906C> G (p.Tyr302Ter) single nucleotide variant Pathogenic rs749597091 GRCh38 Chromosome 15, 52124617: 52124617
13 GNB5 NM_016194.3(GNB5): c.348_352delTAAGA (p.Asp116Glufs) deletion Pathogenic rs1085307675 GRCh38 Chromosome 15, 52153963: 52153967
14 GNB5 NM_016194.3(GNB5): c.348_352delTAAGA (p.Asp116Glufs) deletion Pathogenic rs1085307675 GRCh37 Chromosome 15, 52446160: 52446164

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....