IDDHBA
MCID: INT368
MIFTS: 21

Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities (IDDHBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Hypotonia and Behavioral...

MalaCards integrated aliases for Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

Name: Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities 57 72 6
Iddhba 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity
de novo mutation
variable extraneurologic features


HPO:

31
intellectual developmental disorder with hypotonia and behavioral abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Hypotonia and Behavioral...

OMIM® : 57 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by Calpena et al., 2019). (618748) (Updated 05-Apr-2021)

MalaCards based summary : Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities, is also known as iddhba. An important gene associated with Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities is CDK8 (Cyclin Dependent Kinase 8). Affiliated tissues include heart and brain, and related phenotypes are intellectual disability and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with hypotonia and behavioral abnormalities: An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding.

Related Diseases for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Human phenotypes related to Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 agenesis of corpus callosum 31 very rare (1%) HP:0001274
3 ptosis 31 very rare (1%) HP:0000508
4 abnormal facial shape 31 very rare (1%) HP:0001999
5 sensorineural hearing impairment 31 very rare (1%) HP:0000407
6 visual impairment 31 very rare (1%) HP:0000505
7 strabismus 31 very rare (1%) HP:0000486
8 cryptorchidism 31 very rare (1%) HP:0000028
9 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
10 myopia 31 very rare (1%) HP:0000545
11 coarctation of aorta 31 very rare (1%) HP:0001680
12 hypoplastic left heart 31 very rare (1%) HP:0004383
13 tetralogy of fallot 31 very rare (1%) HP:0001636
14 ventricular septal defect 31 very rare (1%) HP:0001629
15 anteriorly placed anus 31 very rare (1%) HP:0001545
16 rectoperineal fistula 31 very rare (1%) HP:0004792
17 autistic behavior 31 very rare (1%) HP:0000729
18 metopic synostosis 31 very rare (1%) HP:0011330
19 patent foramen ovale 31 very rare (1%) HP:0001655
20 episodic vomiting 31 very rare (1%) HP:0002572
21 seizure 31 very rare (1%) HP:0001250
22 feeding difficulties in infancy 31 HP:0008872
23 motor delay 31 HP:0001270
24 generalized hypotonia 31 HP:0001290
25 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
myopia
more
Head And Neck Head:
brachycephaly

Head And Neck Mouth:
wide mouth
open mouth

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention deficit
mood lability

Neurologic Central Nervous System:
sleep disturbances
seizures (rare)
special education
delayed walking, mild
impaired intellectual development, mild to moderate
more
Cardiovascular Heart:
congenital heart defects (in some patients)
septal defects
coarctation of the aorta
tetralogy of fallot (1 patient)
valvular defects

Abdomen Gastrointestinal:
gastroesophageal reflux
vomiting
feeding difficulties
tube feeding (in some patients)
anteriorly placed anus (1 patient)
more
Head And Neck Ears:
low-set ears
prominent ears
hearing loss, sensorineural (in some patients)

Head And Neck Face:
long philtrum
prognathism
dysmorphic facial features, nonspecific, variable

Head And Neck Nose:
prominent nasal tip
long columella
broad nasal base
small nasal tip

Muscle Soft Tissue:
hypotonia

Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM®:

618748 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities

Genetic Tests for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Anatomical Context for Intellectual Developmental Disorder with Hypotonia and Behavioral...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

40
Heart, Brain

Publications for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Articles related to Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

# Title Authors PMID Year
1
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 57 6
30905399 2019

Variations for Intellectual Developmental Disorder with Hypotonia and Behavioral...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK8 NM_001260.3(CDK8):c.85C>G (p.Arg29Gly) SNV Pathogenic 805982 rs1593218885 GRCh37: 13:26828863-26828863
GRCh38: 13:26254726-26254726
2 CDK8 NM_001260.3(CDK8):c.88G>A (p.Gly30Ser) SNV Pathogenic 805983 rs1593218890 GRCh37: 13:26828866-26828866
GRCh38: 13:26254729-26254729
3 CDK8 NM_001260.3(CDK8):c.578T>G (p.Val193Gly) SNV Pathogenic 805984 GRCh37: 13:26959411-26959411
GRCh38: 13:26385274-26385274
4 CDK8 NM_001260.3(CDK8):c.669A>G (p.Ile223Met) SNV Pathogenic 805985 rs1593310364 GRCh37: 13:26967526-26967526
GRCh38: 13:26393389-26393389
5 CDK8 NM_001260.3(CDK8):c.185C>T (p.Ser62Leu) SNV Pathogenic 805981 rs1565977796 GRCh37: 13:26911760-26911760
GRCh38: 13:26337623-26337623
6 CDK8 NM_001260.3(CDK8):c.479T>C (p.Met160Thr) SNV Likely pathogenic 982990 GRCh37: 13:26956973-26956973
GRCh38: 13:26382836-26382836
7 CDK8 NM_001260.3(CDK8):c.587C>T (p.Thr196Ile) SNV Likely pathogenic 996136 GRCh37: 13:26959420-26959420
GRCh38: 13:26385283-26385283

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 CDK8 p.Val27Leu VAR_083786
2 CDK8 p.Arg29Gly VAR_083787
3 CDK8 p.Gly30Ser VAR_083788
4 CDK8 p.Ser62Leu VAR_083789
5 CDK8 p.Arg178Gln VAR_083791 rs141835337
6 CDK8 p.Val193Gly VAR_083792
7 CDK8 p.Ile223Met VAR_083793

Expression for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities.

Pathways for Intellectual Developmental Disorder with Hypotonia and Behavioral...

GO Terms for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Sources for Intellectual Developmental Disorder with Hypotonia and Behavioral...

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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