IDDAS
MCID: INT333
MIFTS: 15

Intellectual Developmental Disorder with Autism and Speech Delay (IDDAS)

Categories: Genetic 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
Autism, Susceptibility to, 5, Formerly 58
Phrase Speech Delay, Autism-Related 58
Autism 5, Formerly; Auts5, Formerly 58
Autism-Related Speech Delay 58
Auts5, Formerly 58
Iddas 58

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:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 606053
MedGen 43 C1853755

Summaries for Intellectual Developmental Disorder with Autism and Speech 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)

MalaCards based summary : Intellectual Developmental Disorder with Autism and Speech Delay, is also known as autism, susceptibility to, 5, formerly. 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 phenotype is autism.

Related Diseases for Intellectual Developmental Disorder with Autism and Speech Delay

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

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

33
# Description HPO Frequency HPO Source Accession
1 autism 33 HP:0000717

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

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

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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