LADCI
MCID: LNG104
MIFTS: 16

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

Categories: Genetic diseases, Neuronal diseases

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 58 76 6
Language Delay and Adhd/cognitive Impairment with or Without Cardiac Arrhythmia 58 76
Ladci 58 76
Language Delay, Adhd/cognitive Impairment with/without Cardiac Arrhythmia 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
three unrelated families have been reported (last curated november 2016)


HPO:

33
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia, is also known as language delay and adhd/cognitive impairment with or without cardiac arrhythmia. 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 : 76 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia: 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...

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 global developmental delay 33 occasional (7.5%) HP:0001263
3 generalized hypotonia 33 occasional (7.5%) HP:0001290
4 sick sinus syndrome 33 occasional (7.5%) HP:0011704
5 bradycardia 33 occasional (7.5%) HP:0001662
6 delayed speech and language development 33 HP:0000750
7 attention deficit hyperactivity disorder 33 HP:0007018

Symptoms via clinical synopsis from OMIM:

58
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
intellectual disability (in some patients)
developmental delay (in some patients)
impaired fine motor skills (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM:

617182

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...

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

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 GNB5 p.Ser123Leu VAR_077994 rs761399728

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

6
# 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_016194.3(GNB5): c.348_352delTAAGA (p.Asp116Glufs) deletion Pathogenic rs1085307675 GRCh38 Chromosome 15, 52153963: 52153967
4 GNB5 NM_016194.3(GNB5): c.348_352delTAAGA (p.Asp116Glufs) deletion Pathogenic rs1085307675 GRCh37 Chromosome 15, 52446160: 52446164

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...

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
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45 MeSH
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47 MGI
50 NCI
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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
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