IDDSFTA
MCID: INT329
MIFTS: 17

Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities (IDDSFTA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

MalaCards integrated aliases for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

Name: Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities 58 76 6
Iddsfta 58 76
Intellectual Developmental Disorder with Dysmorphic Facies, Speech Delay, and T-Cell Abnormalities 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation (in most patients)
onset in first months of life


HPO:

33
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

UniProtKB/Swiss-Prot : 76 Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities: An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies.

MalaCards based summary : Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities, is also known as iddsfta. An important gene associated with Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities is BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B). Affiliated tissues include t cells, and related phenotypes are asthma and recurrent infections

Description from OMIM: 618092

Related Diseases for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Human phenotypes related to Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 asthma 33 very rare (1%) HP:0002099
2 recurrent infections 33 very rare (1%) HP:0002719
3 eosinophilia 33 very rare (1%) HP:0001880
4 hypertelorism 33 HP:0000316
5 intellectual disability 33 HP:0001249
6 spasticity 33 HP:0001257
7 global developmental delay 33 HP:0001263
8 delayed speech and language development 33 HP:0000750
9 long philtrum 33 HP:0000343
10 epicanthus 33 HP:0000286
11 microdontia 33 HP:0000691
12 anxiety 33 HP:0000739
13 myopia 33 HP:0000545
14 narrow mouth 33 HP:0000160
15 thin upper lip vermilion 33 HP:0000219
16 hypodontia 33 HP:0000668
17 myopathic facies 33 HP:0002058
18 short palpebral fissure 33 HP:0012745
19 unsteady gait 33 HP:0002317
20 oligodontia 33 HP:0000677
21 hypermetropia 33 HP:0000540
22 thin eyebrow 33 HP:0045074
23 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
myopia
epicanthal folds
hyperopia
short palpebral fissures
more
Head And Neck Face:
long philtrum
myopathic facies

Head And Neck Teeth:
hypodontia
oligodontia
small teeth
enamel defects

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Respiratory:
asthma (in some patients)

Neurologic Central Nervous System:
spasticity
unsteady gait
delayed psychomotor development
speech delay
delayed walking
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
adhd

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
small mouth
thin upper lip

Immunology:
recurrent infections (in some patients)
asthma (in some patients)
allergies (in some patients)
eosinophilia (in some patients)
abnormal t cell compartment
more

Clinical features from OMIM:

618092

Drugs & Therapeutics for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities

Genetic Tests for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Anatomical Context for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

42
T Cells

Publications for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Variations for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCL11B NM_138576.3(BCL11B): c.2449_2456dup (p.Gly820Alafs) duplication Pathogenic rs1555376035 GRCh37 Chromosome 14, 99640717: 99640724
2 BCL11B NM_138576.3(BCL11B): c.2449_2456dup (p.Gly820Alafs) duplication Pathogenic rs1555376035 GRCh38 Chromosome 14, 99174380: 99174387
3 BCL11B NM_138576.3(BCL11B): c.2671delG (p.Ala891Profs) deletion Pathogenic rs1555376017 GRCh37 Chromosome 14, 99640502: 99640502
4 BCL11B NM_138576.3(BCL11B): c.2671delG (p.Ala891Profs) deletion Pathogenic rs1555376017 GRCh38 Chromosome 14, 99174165: 99174165
5 BCL11B NM_138576.3(BCL11B): c.242delG (p.Cys81Leufs) deletion Pathogenic rs1555384300 GRCh37 Chromosome 14, 99723993: 99723993
6 BCL11B NM_138576.3(BCL11B): c.242delG (p.Cys81Leufs) deletion Pathogenic rs1555384300 GRCh38 Chromosome 14, 99257656: 99257656
7 BCL11B NM_138576.3(BCL11B): c.1495G> T (p.Glu499Ter) single nucleotide variant Pathogenic rs1555376234 GRCh38 Chromosome 14, 99175341: 99175341
8 BCL11B NM_138576.3(BCL11B): c.1495G> T (p.Glu499Ter) single nucleotide variant Pathogenic rs1555376234 GRCh37 Chromosome 14, 99641678: 99641678

Expression for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities.

Pathways for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

GO Terms for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Sources for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

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
Content
Loading form....