IDDSELD
MCID: INT389
MIFTS: 20

Intellectual Developmental Disorder with Seizures and Language Delay (IDDSELD)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Seizures and Language...

MalaCards integrated aliases for Intellectual Developmental Disorder with Seizures and Language Delay:

Name: Intellectual Developmental Disorder with Seizures and Language Delay 57 29 6
Iddseld 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in infancy or early childhood
onset of seizures usually in the first years of life
fever may trigger seizures
some patients have refractory seizures


HPO:

31
intellectual developmental disorder with seizures and language delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Seizures and Language...

OMIM® : 57 Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by Roston et al., 2021). (619000) (Updated 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder with Seizures and Language Delay, is also known as iddseld. An important gene associated with Intellectual Developmental Disorder with Seizures and Language Delay is SETD1B (SET Domain Containing 1B, Histone Lysine Methyltransferase). Related phenotypes are global developmental delay and delayed speech and language development

Related Diseases for Intellectual Developmental Disorder with Seizures and Language...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Seizures and Language...

Human phenotypes related to Intellectual Developmental Disorder with Seizures and Language Delay:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 thick eyebrow 31 very rare (1%) HP:0000574
4 intellectual disability, mild 31 very rare (1%) HP:0001256
5 full cheeks 31 very rare (1%) HP:0000293
6 thick lower lip vermilion 31 very rare (1%) HP:0000179
7 anxiety 31 very rare (1%) HP:0000739
8 downslanted palpebral fissures 31 very rare (1%) HP:0000494
9 flat occiput 31 very rare (1%) HP:0005469
10 tapered finger 31 very rare (1%) HP:0001182
11 intellectual disability, profound 31 very rare (1%) HP:0002187
12 autistic behavior 31 very rare (1%) HP:0000729
13 eeg with polyspike wave complexes 31 very rare (1%) HP:0002392
14 square face 31 very rare (1%) HP:0000321
15 increased theta frequency activity in eeg 31 very rare (1%) HP:0031535
16 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
17 myoclonic seizure 31 very rare (1%) HP:0032794
18 myoclonic absence seizure 31 very rare (1%) HP:0011150
19 eeg with spike-wave complexes (2.5-3.5 hz) 31 HP:0010848

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
generalized tonic-clonic seizures
myoclonic seizures
absence seizures
more
Head And Neck Eyes:
hypertelorism
proptosis
eyelid myoclonus
downslanting palpebral fissures
thick eyebrows
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
adhd

Skin Nails Hair Skin:
eczema
pigmentary changes

Head And Neck Ears:
small ears

Head And Neck Nose:
small nose

Head And Neck Teeth:
oligodontia (in some patients)

Abdomen External Features:
inguinal hernia

Head And Neck Face:
smooth philtrum
full cheeks
midface hypoplasia
dysmorphic facial features, nonspecific (in some patients)
facial twitching

Skeletal:
joint laxity

Head And Neck Mouth:
thin upper lip
cleft lip (in some patients)
cleft palate (in some patients)

Skeletal Hands:
fifth finger clinodactyly
tapering fingers
persistent fetal pads

Skeletal Spine:
lumbar lordosis

Clinical features from OMIM®:

619000 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Seizures and Language...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Seizures and Language Delay

Genetic Tests for Intellectual Developmental Disorder with Seizures and Language...

Genetic tests related to Intellectual Developmental Disorder with Seizures and Language Delay:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Seizures and Language Delay 29 SETD1B

Anatomical Context for Intellectual Developmental Disorder with Seizures and Language...

Publications for Intellectual Developmental Disorder with Seizures and Language...

Articles related to Intellectual Developmental Disorder with Seizures and Language Delay:

# Title Authors PMID Year
1
SETD1B-associated neurodevelopmental disorder. 6 57
32546566 2021
2
A genome-wide DNA methylation signature for SETD1B-related syndrome. 6 57
31685013 2019
3
A novel de novo frameshift variant in SETD1B causes epilepsy. 57 6
31110234 2019
4
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. 6 57
29322246 2018
5
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. 57
27106595 2016
6
Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. 57
25428890 2015

Variations for Intellectual Developmental Disorder with Seizures and Language...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Seizures and Language Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETD1B NM_001353345.2(SETD1B):c.5773_5776del (p.Ile1925fs) Deletion Pathogenic 977478 12:122268015-122268018 12:121830109-121830112
2 SETD1B R1301* Variation Pathogenic 977479
3 SETD1B NM_001353345.2(SETD1B):c.2932C>T (p.Gln978Ter) SNV Pathogenic 977480 12:122255155-122255155 12:121817249-121817249
4 SETD1B NM_001353345.2(SETD1B):c.3964C>T (p.Gln1322Ter) SNV Pathogenic 977481 12:122260449-122260449 12:121822543-121822543
5 SETD1B NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu) SNV Pathogenic 977482 12:122268077-122268077 12:121830171-121830171
6 SETD1B NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp) SNV Pathogenic 977511 12:122265902-122265902 12:121827996-121827996
7 SETD1B NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys) SNV Pathogenic 977512 12:122265953-122265953 12:121828047-121828047
8 SETD1B NM_001353345.2(SETD1B):c.2258_2264del (p.Leu752_Phe753insTer) Deletion Pathogenic 983436 12:122252374-122252380 12:121814468-121814474

Expression for Intellectual Developmental Disorder with Seizures and Language...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Seizures and Language Delay.

Pathways for Intellectual Developmental Disorder with Seizures and Language...

GO Terms for Intellectual Developmental Disorder with Seizures and Language...

Sources for Intellectual Developmental Disorder with Seizures and Language...

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....