JDVS
MCID: JNS007
MIFTS: 20

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 57
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 74 29 6
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold, Formerly; Iddgip, Formerly 57
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold, Formerly 57
Jansen De Vries Syndrome 57
Iddgip, Formerly 57
Iddgip 74
Jdvs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable features


HPO:

32
jansen-de vries syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617450
MeSH 44 D065886

Summaries for Jansen-De Vries Syndrome

UniProtKB/Swiss-Prot : 74 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, is also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold. An important gene associated with Jansen-De Vries Syndrome is PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D). Related phenotypes are low-set ears and intellectual disability

OMIM : 57 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

Symptoms & Phenotypes for Jansen-De Vries Syndrome

Human phenotypes related to Jansen-De Vries Syndrome:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 intellectual disability 32 HP:0001249
3 constipation 32 HP:0002019
4 hyperlordosis 32 HP:0003307
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 anteverted nares 32 HP:0000463
8 short stature 32 HP:0004322
9 gastroesophageal reflux 32 HP:0002020
10 vomiting 32 HP:0002013
11 generalized hypotonia 32 HP:0001290
12 feeding difficulties 32 HP:0011968
13 strabismus 32 HP:0000486
14 short foot 32 HP:0001773
15 attention deficit hyperactivity disorder 32 HP:0007018
16 anxiety 32 HP:0000739
17 broad forehead 32 HP:0000337
18 wide mouth 32 HP:0000154
19 small nail 32 HP:0001792
20 small hand 32 HP:0200055
21 obsessive-compulsive behavior 32 HP:0000722
22 brachydactyly 32 HP:0001156
23 thin upper lip vermilion 32 HP:0000219
24 autistic behavior 32 HP:0000729
25 posteriorly rotated ears 32 HP:0000358
26 hypermetropia 32 HP:0000540
27 broad-based gait 32 HP:0002136

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
recurrent vomiting

Growth Height:
short stature

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

Skeletal Hands:
small hand
brachydactyly

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

Head And Neck Eyes:
strabismus
hypermetropia

Head And Neck Face:
broad forehead

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

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. 8 71
28343630 2017
2
Novel truncating PPM1D mutation in a patient with intellectual disability. 38
29758292 2019

Variations for Jansen-De Vries Syndrome

ClinVar genetic disease variations for Jansen-De Vries Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PPM1D NM_003620.3(PPM1D): c.1221T> A (p.Cys407Ter) single nucleotide variant Pathogenic rs189669693 17:58734163-58734163 17:60656802-60656802
2 PPM1D NM_003620.3(PPM1D): c.1216del (p.Thr406fs) deletion Pathogenic rs747947002 17:58734158-58734158 17:60656797-60656797
3 PPM1D NM_003620.3(PPM1D): c.1270dup (p.Glu424fs) duplication Pathogenic rs1064797098 17:58740365-58740365 17:60663004-60663004
4 PPM1D NM_003620.3(PPM1D): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1064797099 17:58740376-58740376 17:60663015-60663015
5 PPM1D NM_003620.3(PPM1D): c.1250dup (p.Pro418fs) duplication Pathogenic rs1064797100 17:58734192-58734192 17:60656831-60656831
6 PPM1D NM_003620.3(PPM1D): c.1248_1252del (p.Pro417fs) deletion Pathogenic 17:58734190-58734194 17:60656829-60656833
7 PPM1D NM_003620.3(PPM1D): c.1259dup (p.Ser421fs) duplication Pathogenic 17:58734200-58734200 17:60656840-60656840
8 PPM1D NM_003620.3(PPM1D): c.1277del (p.Pro426fs) deletion Likely pathogenic rs1555649009 17:58740371-58740371 17:60663010-60663010
9 PPM1D NM_003620.3(PPM1D): c.1714C> T (p.Arg572Ter) single nucleotide variant Conflicting interpretations of pathogenicity 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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