MCID: LNG104
MIFTS: 16

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

Categories: Genetic 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 57 75 6
Language Delay and Adhd/cognitive Impairment with or Without Cardiac Arrhythmia 57 75
Ladci 57 75
Language Delay, Adhd/cognitive Impairment with/without Cardiac Arrhythmia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 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)

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 delayed speech and language development and intellectual disability

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sick sinus syndrome (in some patients)
bradycardia (in some patients)
arrhythmias (in some patients)

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

Muscle Soft Tissue:
hypotonia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit
hyperactivity


Clinical features from OMIM:

617182

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 global developmental delay 32 occasional (7.5%) HP:0001263
4 generalized hypotonia 32 occasional (7.5%) HP:0001290
5 bradycardia 32 occasional (7.5%) HP:0001662
6 attention deficit hyperactivity disorder 32 HP:0007018
7 sick sinus syndrome 32 occasional (7.5%) HP:0011704

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:

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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