LADCI
MCID: LNG104
MIFTS: 22

Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia (LADCI)

Categories: Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Language Delay and Attention Deficit-Hyperactivity...

MalaCards integrated aliases for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:

Name: Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia 57 73 28 5
Language Delay and Adhd/cognitive Impairment with or Without Cardiac Arrhythmia 57 73
Ladci 57 73
Language Delay, Adhd/cognitive Impairment with/without Cardiac Arrhythmia 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early childhood
three unrelated families have been reported (last curated november 2016)


Classifications:



Summaries for Language Delay and Attention Deficit-Hyperactivity...

OMIM®: 57 LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016). (617182) (Updated 08-Dec-2022)

MalaCards based summary: Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia, also known as language delay and adhd/cognitive impairment with or without cardiac arrhythmia, is related to gnb5-related neurodevelopmental disorder. An important gene associated with Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia is GNB5 (G Protein Subunit Beta 5). Related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction.

Related Diseases for Language Delay and Attention Deficit-Hyperactivity...

Diseases related to Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gnb5-related neurodevelopmental disorder 11.0

Symptoms & Phenotypes for Language Delay and Attention Deficit-Hyperactivity...

Human phenotypes related to Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Occasional (7.5%) HP:0001249
2 global developmental delay 30 Occasional (7.5%) HP:0001263
3 generalized hypotonia 30 Occasional (7.5%) HP:0001290
4 bradycardia 30 Occasional (7.5%) HP:0001662
5 sick sinus syndrome 30 Occasional (7.5%) HP:0011704
6 poor fine motor coordination 30 Very rare (1%) HP:0007010
7 delayed speech and language development 30 HP:0000750
8 attention deficit hyperactivity disorder 30 HP:0007018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit

Cardiovascular Heart:
arrhythmias (in some patients)
bradycardia (in some patients)
sick sinus syndrome (in some patients)

Neurologic Central Nervous System:
speech delay
developmental delay (in some patients)
intellectual disability (in some patients)
impaired fine motor skills (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM®:

617182 (Updated 08-Dec-2022)

Drugs & Therapeutics for Language Delay and Attention Deficit-Hyperactivity...

Search Clinical Trials, NIH Clinical Center for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia

Genetic Tests for Language Delay and Attention Deficit-Hyperactivity...

Genetic tests related to Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:

# Genetic test Affiliating Genes
1 Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia 28 GNB5

Anatomical Context for Language Delay and Attention Deficit-Hyperactivity...

Publications for Language Delay and Attention Deficit-Hyperactivity...

Articles related to Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:

# Title Authors PMID Year
1
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. 57 5
27523599 2016
2
GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition. 57 5
27677260 2016
3
Gβ5-RGS complexes are gatekeepers of hyperactivity involved in control of multiple neurotransmitter systems. 57
21766168 2012
4
A conserved protein interaction interface on the type 5 G protein beta subunit controls proteolytic stability and activity of R7 family regulator of G protein signaling proteins. 57
20959458 2010
5
[Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review]. 62
32987464 2020
6
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA). 62
32477400 2020
7
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient. 62
30631341 2018

Variations for Language Delay and Attention Deficit-Hyperactivity...

ClinVar genetic disease variations for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNB5 NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) SNV Pathogenic
Not Provided
254029 rs761399728 GRCh37: 15:52446144-52446144
GRCh38: 15:52153947-52153947
2 GNB5 NM_016194.4(GNB5):c.239-2A>C SNV Pathogenic
1694471 GRCh37: 15:52446275-52446275
GRCh38: 15:52154078-52154078
3 GNB5 NM_016194.4(GNB5):c.348_352del (p.Asp116fs) DEL Not Provided
426541 rs1085307675 GRCh37: 15:52446160-52446164
GRCh38: 15:52153963-52153967

UniProtKB/Swiss-Prot genetic disease variations for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:

73
# Symbol AA change Variation ID SNP ID
1 GNB5 p.Ser123Leu VAR_077994 rs761399728

Expression for Language Delay and Attention Deficit-Hyperactivity...

Search GEO for disease gene expression data for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia.

Pathways for Language Delay and Attention Deficit-Hyperactivity...

GO Terms for Language Delay and Attention Deficit-Hyperactivity...

Sources for Language Delay and Attention Deficit-Hyperactivity...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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