DIJOS
MCID: DTS001
MIFTS: 15

Diets-Jongmans Syndrome (DIJOS)

Categories: Genetic diseases

Aliases & Classifications for Diets-Jongmans Syndrome

MalaCards integrated aliases for Diets-Jongmans Syndrome:

Name: Diets-Jongmans Syndrome 56 6
Intellectual Developmental Disorder with Distinctive Facial Dysmorphism; Iddfd 56
Intellectual Developmental Disorder with Distinctive Facial Dysmorphism 56
Dijos 56
Iddfd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618846

Summaries for Diets-Jongmans Syndrome

OMIM : 56 Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019). (618846)

MalaCards based summary : Diets-Jongmans Syndrome, is also known as intellectual developmental disorder with distinctive facial dysmorphism; iddfd. An important gene associated with Diets-Jongmans Syndrome is KDM3B (Lysine Demethylase 3B). Affiliated tissues include brain.

Related Diseases for Diets-Jongmans Syndrome

Symptoms & Phenotypes for Diets-Jongmans Syndrome

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Mouth:
wide mouth
thin upper lip vermillion

Head And Neck Nose:
broad nasal tip
low hanging columella (in some patients)

Head And Neck Ears:
hearing loss (in some patients)
long ears

Chest Diaphragm:
congenital diaphragmatic hernia (rare)

Neurologic Central Nervous System:
motor delay
speech delay
intellectual disability (mild to moderate)
epilepsy (rare)
brain anomalies, mild (in some patients)
more
Head And Neck Face:
pointed chin
prominent chin

Head And Neck Eyes:
downslanting palpebral fissures (in some patients)
upslanting palpebral fissures (in some patients)
ptosis (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in some patients)
attention deficit-hyperactivity disorder (adhd, in some patients)

Abdomen Gastrointestinal:
neonatal feeding difficulties (in some patients)

Clinical features from OMIM:

618846

Drugs & Therapeutics for Diets-Jongmans Syndrome

Search Clinical Trials , NIH Clinical Center for Diets-Jongmans Syndrome

Genetic Tests for Diets-Jongmans Syndrome

Anatomical Context for Diets-Jongmans Syndrome

MalaCards organs/tissues related to Diets-Jongmans Syndrome:

40
Brain

Publications for Diets-Jongmans Syndrome

Articles related to Diets-Jongmans Syndrome:

# Title Authors PMID Year
1
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. 56 6
30929739 2019
2
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. 56 6
29351919 2018

Variations for Diets-Jongmans Syndrome

ClinVar genetic disease variations for Diets-Jongmans Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KDM3B NM_016604.4(KDM3B):c.277G>T (p.Glu93Ter)SNV Pathogenic 864849 5:137708447-137708447 5:138372758-138372758
2 KDM3B NM_016604.4(KDM3B):c.1007A>G (p.Asp336Gly)SNV Pathogenic 864850 5:137721937-137721937 5:138386248-138386248
3 KDM3B NM_016604.4(KDM3B):c.5191G>A (p.Glu1731Lys)SNV Pathogenic 864851 5:137767234-137767234 5:138431545-138431545
4 KDM3B NM_016604.4(KDM3B):c.3095A>T (p.Asp1032Val)SNV Pathogenic 864852 5:137735597-137735597 5:138399908-138399908
5 KDM3B NM_016604.4(KDM3B):c.133C>T (p.Arg45Ter)SNV Pathogenic 864853 5:137688617-137688617 5:138352928-138352928

Expression for Diets-Jongmans Syndrome

Search GEO for disease gene expression data for Diets-Jongmans Syndrome.

Pathways for Diets-Jongmans Syndrome

GO Terms for Diets-Jongmans Syndrome

Sources for Diets-Jongmans Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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