IDDAS
MCID: INT333
MIFTS: 28

Intellectual Developmental Disorder with Autism and Speech Delay (IDDAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Autism and Speech Delay

MalaCards integrated aliases for Intellectual Developmental Disorder with Autism and Speech Delay:

Name: Intellectual Developmental Disorder with Autism and Speech Delay 57 72 36
Autism 5 72 29 6
Phrase Speech Delay, Autism-Related 57 72
Autism, Susceptibility to, 5 13 70
Autism-Related Speech Delay 57 72
Iddas 57 72
Autism, Susceptibility to, 5, Formerly 57
Autism 5, Formerly; Auts5, Formerly 57
Auts5, Formerly 57
Auts5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

31
intellectual developmental disorder with autism and speech delay:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Intellectual Developmental Disorder with Autism and Speech Delay

KEGG : 36 Intellectual developmental disorder with autism and speech delay (IDDAS) is the TBR1-related autistic-spectrum-disorder. TBR1 encodes a neuron-specific transcription factor, that is highly expressed in the deep layers of the cortex.

MalaCards based summary : Intellectual Developmental Disorder with Autism and Speech Delay, also known as autism 5, is related to agenesis of corpus callosum, cardiac, ocular, and genital syndrome and autism spectrum disorder. An important gene associated with Intellectual Developmental Disorder with Autism and Speech Delay is TBR1 (T-Box Brain Transcription Factor 1). Affiliated tissues include cortex, brain and breast, and related phenotypes are intellectual disability, severe and joint laxity

OMIM® : 57 IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits (Deriziotis et al., 2014; den Hoed et al., 2018). (606053) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with autism and speech delay: An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.

Related Diseases for Intellectual Developmental Disorder with Autism and Speech Delay

Diseases related to Intellectual Developmental Disorder with Autism and Speech Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
2 autism spectrum disorder 9.9
3 autism 9.9
4 pervasive developmental disorder 9.7

Symptoms & Phenotypes for Intellectual Developmental Disorder with Autism and Speech Delay

Human phenotypes related to Intellectual Developmental Disorder with Autism and Speech Delay:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 very rare (1%) HP:0010864
2 joint laxity 31 very rare (1%) HP:0001388
3 pachygyria 31 very rare (1%) HP:0001302
4 global developmental delay 31 HP:0001263
5 delayed speech and language development 31 HP:0000750
6 stereotypy 31 HP:0000733
7 autism 31 HP:0000717
8 generalized hypotonia 31 HP:0001290
9 inability to walk 31 HP:0002540
10 impaired social interactions 31 HP:0000735
11 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
inability to walk
delayed walking
impaired intellectual development
delayed speech
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
impaired social interaction
stereotypic behaviors

Muscle Soft Tissue:
hypotonia

Skeletal:
joint laxity (in some patients)

Clinical features from OMIM®:

606053 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Autism and Speech Delay

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Autism and Speech Delay

Genetic Tests for Intellectual Developmental Disorder with Autism and Speech Delay

Genetic tests related to Intellectual Developmental Disorder with Autism and Speech Delay:

# Genetic test Affiliating Genes
1 Autism 5 29 TBR1

Anatomical Context for Intellectual Developmental Disorder with Autism and Speech Delay

MalaCards organs/tissues related to Intellectual Developmental Disorder with Autism and Speech Delay:

40
Cortex, Brain, Breast

Publications for Intellectual Developmental Disorder with Autism and Speech Delay

Articles related to Intellectual Developmental Disorder with Autism and Speech Delay:

(show all 23)
# Title Authors PMID Year
1
Mutations in TBR1 gene leads to cortical malformations and intellectual disability. 6 57
30268909 2018
2
Functional characterization of TBR1 variants in neurodevelopmental disorder. 57 6
30250039 2018
3
De novo TBR1 mutations in sporadic autism disrupt protein functions. 6 57
25232744 2014
4
The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum. 57
29288087 2018
5
Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. 57
24441682 2014
6
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 57
19267418 2009
7
Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. 57
11875756 2002
8
A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. 57
11481586 2001
9
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. 57
11353400 2001
10
Tbr1 regulates differentiation of the preplate and layer 6. 57
11239428 2001
11
Fidelity Assessment in Community Programs: An Approach to Validating Simplified Methodology. 61
32231965 2020
12
Altered Gamma Oscillations during Motor Control in Children with Autism Spectrum Disorder. 61
30104338 2018
13
Simple, Transparent, and Flexible Automated Quality Assessment Procedures for Ambulatory Electrodermal Activity Data. 61
28976309 2018
14
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis. 61
28729328 2017
15
Locus ceruleus neurons in people with autism contain no histochemically-detectable mercury. 61
26613607 2016
16
Autism: 5 misconceptions that can complicate care. 61
25061620 2014
17
Saccadic characteristics in autistic children. 61
20018143 2009
18
The relationship between expressive language level and psychological development in children with autism 5 years of age. 61
15857861 2005
19
Mitochondrial dysfunction in autism spectrum disorders: a population-based study. 61
15739723 2005
20
Proton magnetic resonance spectroscopic imaging of the brain in childhood autism. 61
14675799 2003
21
Reinforcing variability in adolescents with autism. 61
10885524 2000
22
An MRI study of the basal ganglia in autism. 61
10390720 1999
23
Subgroups of autistic children based on social behavior display distinct patterns of brain activity. 61
8568080 1995

Variations for Intellectual Developmental Disorder with Autism and Speech Delay

ClinVar genetic disease variations for Intellectual Developmental Disorder with Autism and Speech Delay:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBR1 NM_006593.4(TBR1):c.405del (p.Ala136fs) Deletion Pathogenic 599048 GRCh37: 2:162273323-162273323
GRCh38: 2:161416812-161416812
2 TBR1 NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer) Duplication Pathogenic 599049 GRCh37: 2:162275481-162275482
GRCh38: 2:161418970-161418971
3 TBR1 NM_006593.4(TBR1):c.682A>G (p.Lys228Glu) SNV Pathogenic 599050 GRCh37: 2:162273603-162273603
GRCh38: 2:161417092-161417092
4 TBR1 NM_006593.4(TBR1):c.1120A>C (p.Asn374His) SNV Pathogenic 599051 GRCh37: 2:162275553-162275553
GRCh38: 2:161419042-161419042
5 TBR1 NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) SNV Pathogenic 599052 rs1559060428 GRCh37: 2:162274307-162274307
GRCh38: 2:161417796-161417796
6 TBR1 NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu) SNV Pathogenic 599053 rs1553510677 GRCh37: 2:162276743-162276743
GRCh38: 2:161420232-161420232
7 TBR1 NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) Microsatellite Pathogenic 224144 rs869312704 GRCh37: 2:162280263-162280264
GRCh38: 2:161423752-161423753
8 TBR1 NM_006593.4(TBR1):c.1731dup (p.Ala578fs) Duplication Pathogenic 807510 rs1574152672 GRCh37: 2:162280419-162280420
GRCh38: 2:161423908-161423909
9 TBR1 NM_006593.4(TBR1):c.1547del (p.Tyr516fs) Deletion Likely pathogenic 801771 rs1574152522 GRCh37: 2:162280236-162280236
GRCh38: 2:161423725-161423725
10 TBR1 NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr) SNV Uncertain significance 931074 GRCh37: 2:162280505-162280505
GRCh38: 2:161423994-161423994
11 TBR1 NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly) SNV Uncertain significance 997007 GRCh37: 2:162280637-162280637
GRCh38: 2:161424126-161424126

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Autism and Speech Delay:

72
# Symbol AA change Variation ID SNP ID
1 TBR1 p.Trp271Arg VAR_078646 rs155351030
2 TBR1 p.Lys228Glu VAR_081758
3 TBR1 p.Trp271Cys VAR_081759 rs155906042
4 TBR1 p.Asn374His VAR_081761
5 TBR1 p.Lys389Glu VAR_081762 rs155351067

Expression for Intellectual Developmental Disorder with Autism and Speech Delay

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Autism and Speech Delay.

Pathways for Intellectual Developmental Disorder with Autism and Speech Delay

GO Terms for Intellectual Developmental Disorder with Autism and Speech Delay

Sources for Intellectual Developmental Disorder with Autism and Speech Delay

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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