IDDAS
MCID: INT333
MIFTS: 20

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 58 76
Phrase Speech Delay, Autism-Related 58 76
Autism-Related Speech Delay 58 76
Autism 5 76 6
Iddas 58 76
Autism, Susceptibility to, 5, Formerly 58
Autism 5, Formerly; Auts5, Formerly 58
Autism, Susceptibility to, 5 13
Auts5, Formerly 58
Auts5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

33
intellectual developmental disorder with autism and speech delay:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Autism and Speech Delay

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Intellectual Developmental Disorder with Autism and Speech Delay, also known as phrase speech delay, autism-related, is related to autism. An important gene associated with Intellectual Developmental Disorder with Autism and Speech Delay is TBR1 (T-Box, Brain 1). Affiliated tissues include cortex, and related phenotypes are pachygyria and global developmental delay

OMIM : 58 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)

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 autism 11.7

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pachygyria 33 very rare (1%) HP:0001302
2 global developmental delay 33 HP:0001263
3 delayed speech and language development 33 HP:0000750
4 stereotypy 33 HP:0000733
5 autism 33 HP:0000717
6 inability to walk 33 HP:0002540
7 impaired social interactions 33 HP:0000735
8 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
inability to walk
delayed walking
delayed speech
impaired intellectual development
more
Neurologic Behavioral Psychiatric Manifestations:
impaired social interaction
autism spectrum disorder
stereotypic behaviors

Muscle Soft Tissue:
hypotonia

Skeletal:
joint laxity (in some patients)

Clinical features from OMIM:

606053

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

Anatomical Context for Intellectual Developmental Disorder with Autism and Speech Delay

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

42
Cortex

Publications for Intellectual Developmental Disorder with Autism and Speech Delay

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

# Title Authors Year
1
Mutations in TBR1 gene leads to cortical malformations and intellectual disability. ( 30268909 )
2018
2
Functional characterization of TBR1 variants in neurodevelopmental disorder. ( 30250039 )
2018
3
De novo TBR1 mutations in sporadic autism disrupt protein functions. ( 25232744 )
2014

Variations for Intellectual Developmental Disorder with Autism and Speech Delay

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBR1 TBR1, 1-BP DEL, C deletion Pathogenic
2 TBR1 TBR1, 1-BP INS, C insertion Pathogenic
3 TBR1 TBR1, LYS228GLU single nucleotide variant Pathogenic
4 TBR1 TBR1, ASN374HIS single nucleotide variant Pathogenic
5 TBR1 NM_006593.4(TBR1): c.813G> T (p.Trp271Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 162274307: 162274307
6 TBR1 NM_006593.4(TBR1): c.1165A> G (p.Lys389Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 161420232: 161420232
7 TBR1 NM_006593.4(TBR1): c.1165A> G (p.Lys389Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 162276743: 162276743
8 TBR1 NM_006593.4(TBR1): c.813G> T (p.Trp271Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 161417796: 161417796
9 TBR1 NM_006593.4(TBR1): c.1588_1594dup (p.Thr532Argfs) duplication Likely pathogenic rs869312704 GRCh38 Chromosome 2, 161423766: 161423772
10 TBR1 NM_006593.4(TBR1): c.1588_1594dup (p.Thr532Argfs) duplication Likely pathogenic rs869312704 GRCh37 Chromosome 2, 162280277: 162280283

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
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
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