JDVS
MCID: JNS007
MIFTS: 26

Jansen-De Vries Syndrome (JDVS)

Categories: Gastrointestinal diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Jansen-De Vries Syndrome

MalaCards integrated aliases for Jansen-De Vries Syndrome:

Name: Jansen-De Vries Syndrome 56
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 73 29 6
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold, Formerly; Iddgip, Formerly 56
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold, Formerly 56
Jansen De Vries Syndrome 56
Iddgip, Formerly 56
Iddgip 73
Jdvs 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable features


HPO:

31
jansen-de vries syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Jansen-De Vries Syndrome

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold: An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet.

MalaCards based summary : Jansen-De Vries Syndrome, also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, is related to patent ductus arteriosus 1 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Jansen-De Vries Syndrome is PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D). Affiliated tissues include heart, and related phenotypes are low-set ears and intellectual disability

OMIM : 56 Jansen-de Vries syndrome (JDVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017). (617450)

Related Diseases for Jansen-De Vries Syndrome

Diseases related to Jansen-De Vries Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 inguinal hernia 10.4
4 ventricular septal defect 10.4
5 heart septal defect 10.4
6 atrial heart septal defect 10.4
7 constipation 10.4

Graphical network of the top 20 diseases related to Jansen-De Vries Syndrome:



Diseases related to Jansen-De Vries Syndrome

Symptoms & Phenotypes for Jansen-De Vries Syndrome

Human phenotypes related to Jansen-De Vries Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 intellectual disability 31 HP:0001249
3 constipation 31 HP:0002019
4 hyperlordosis 31 HP:0003307
5 global developmental delay 31 HP:0001263
6 delayed speech and language development 31 HP:0000750
7 brachydactyly 31 HP:0001156
8 short stature 31 HP:0004322
9 feeding difficulties 31 HP:0011968
10 small nail 31 HP:0001792
11 anteverted nares 31 HP:0000463
12 gastroesophageal reflux 31 HP:0002020
13 vomiting 31 HP:0002013
14 generalized hypotonia 31 HP:0001290
15 strabismus 31 HP:0000486
16 short foot 31 HP:0001773
17 attention deficit hyperactivity disorder 31 HP:0007018
18 anxiety 31 HP:0000739
19 broad forehead 31 HP:0000337
20 wide mouth 31 HP:0000154
21 small hand 31 HP:0200055
22 thin upper lip vermilion 31 HP:0000219
23 posteriorly rotated ears 31 HP:0000358
24 obsessive-compulsive behavior 31 HP:0000722
25 autistic behavior 31 HP:0000729
26 hypermetropia 31 HP:0000540
27 broad-based gait 31 HP:0002136

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Abdomen Gastrointestinal:
constipation
feeding difficulties
gastroesophageal reflux
recurrent vomiting

Skeletal Hands:
brachydactyly
small hand

Head And Neck Eyes:
strabismus
hypermetropia

Head And Neck Face:
broad forehead

Skin Nails Hair Nails:
hypoplastic nails

Skeletal Feet:
small feet

Neurologic Central Nervous System:
intellectual disability
broad-based gait
language delay
delayed psychomotor development
high pain threshold
more
Skeletal Spine:
hyperlordosis

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive disorder
attention deficit-hyperactivity disorder
autism spectrum disorder
sensory integration problems

Head And Neck Mouth:
thin upper lip
broad mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
upturned nose

Clinical features from OMIM:

617450

Drugs & Therapeutics for Jansen-De Vries Syndrome

Search Clinical Trials , NIH Clinical Center for Jansen-De Vries Syndrome

Genetic Tests for Jansen-De Vries Syndrome

Genetic tests related to Jansen-De Vries Syndrome:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 29 PPM1D

Anatomical Context for Jansen-De Vries Syndrome

MalaCards organs/tissues related to Jansen-De Vries Syndrome:

40
Heart

Publications for Jansen-De Vries Syndrome

Articles related to Jansen-De Vries Syndrome:

# Title Authors PMID Year
1
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 56 6
28343630 2017
2
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome. 61
31916397 2020
3
Novel truncating PPM1D mutation in a patient with intellectual disability. 61
29758292 2019

Variations for Jansen-De Vries Syndrome

ClinVar genetic disease variations for Jansen-De Vries Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPM1D NM_003620.3(PPM1D):c.1221T>A (p.Cys407Ter)SNV Pathogenic 424875 rs189669693 17:58734163-58734163 17:60656802-60656802
2 PPM1D NM_003620.3(PPM1D):c.1216del (p.Thr406fs)deletion Pathogenic 424876 rs747947002 17:58734156-58734156 17:60656795-60656795
3 PPM1D NM_003620.3(PPM1D):c.1270dup (p.Glu424fs)duplication Pathogenic 424877 rs1064797098 17:58740363-58740364 17:60663002-60663003
4 PPM1D NM_003620.3(PPM1D):c.1281G>A (p.Trp427Ter)SNV Pathogenic 424878 rs1064797099 17:58740376-58740376 17:60663015-60663015
5 PPM1D NM_003620.3(PPM1D):c.1250dup (p.Pro418fs)duplication Pathogenic 424879 rs1064797100 17:58734190-58734191 17:60656829-60656830
6 PPM1D NM_003620.3(PPM1D):c.1248_1252del (p.Pro417fs)deletion Pathogenic 625529 rs1567977657 17:58734188-58734192 17:60656827-60656831
7 PPM1D NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)duplication Pathogenic 638685 17:58734199-58734200 17:60656838-60656839
8 PPM1D NM_003620.3(PPM1D):c.1277del (p.Pro426fs)deletion Likely pathogenic 559877 rs1555649009 17:58740371-58740371 17:60663010-60663010
9 PPM1D NM_003620.3(PPM1D):c.1714C>T (p.Arg572Ter)SNV Conflicting interpretations of pathogenicity 546016 rs765769406 17:58740809-58740809 17:60663448-60663448

Expression for Jansen-De Vries Syndrome

Search GEO for disease gene expression data for Jansen-De Vries Syndrome.

Pathways for Jansen-De Vries Syndrome

GO Terms for Jansen-De Vries Syndrome

Sources for Jansen-De Vries 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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