CHUJANS
MCID: CHN077
MIFTS: 28

Chung-Jansen Syndrome (CHUJANS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Chung-Jansen Syndrome

MalaCards integrated aliases for Chung-Jansen Syndrome:

Name: Chung-Jansen Syndrome 56 52 29 6
Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism 56 52
Phip-Related Disorder 52 6
Chujans 56 52
Didod 56 73
Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features 73
Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism; Didod 56
Intellectual Disability-Overweight Syndrome Caused by Phip Haploinsufficiency 52
Phip-Related Disorders 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
most mutations occur de novo
variable features and severity


HPO:

31
chung-jansen syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Chung-Jansen Syndrome

NIH Rare Diseases : 52 PHIP-related disorder , also known as Chung-Jansen syndrome , is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene . The most common signs and symptoms, include mild to severe learning problems, behavior problems, and a tendency toward being overweight. PHIP-related disorder is an autosomal dominant condition. This means that a person with the disorder has a 1 in 2 or 50% chance of passing the condition to each child.

MalaCards based summary : Chung-Jansen Syndrome, also known as developmental delay, intellectual disability, obesity, and dysmorphism, is related to mood disorder and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chung-Jansen Syndrome is PHIP (Pleckstrin Homology Domain Interacting Protein). Affiliated tissues include skin, and related phenotypes are hypertelorism and obesity

OMIM : 56 Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018). (617991)

UniProtKB/Swiss-Prot : 73 Developmental delay, intellectual disability, obesity, and dysmorphic features: An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features.

Related Diseases for Chung-Jansen Syndrome

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

# Related Disease Score Top Affiliating Genes
1 mood disorder 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 muscular atrophy 10.2
4 hypotonia 10.2
5 syndromic intellectual disability 9.2 PHIP IRAK1BP1

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



Diseases related to Chung-Jansen Syndrome

Symptoms & Phenotypes for Chung-Jansen Syndrome

Human phenotypes related to Chung-Jansen Syndrome:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 obesity 31 HP:0001513
3 clinodactyly 31 HP:0030084
4 intellectual disability 31 HP:0001249
5 nystagmus 31 HP:0000639
6 high palate 31 HP:0000218
7 global developmental delay 31 HP:0001263
8 macrotia 31 HP:0000400
9 short nose 31 HP:0003196
10 cryptorchidism 31 HP:0000028
11 micrognathia 31 HP:0000347
12 cafe-au-lait spot 31 HP:0000957
13 anteverted nares 31 HP:0000463
14 thick eyebrow 31 HP:0000574
15 long philtrum 31 HP:0000343
16 short philtrum 31 HP:0000322
17 generalized hypotonia 31 HP:0001290
18 strabismus 31 HP:0000486
19 epicanthus 31 HP:0000286
20 attention deficit hyperactivity disorder 31 HP:0007018
21 anxiety 31 HP:0000739
22 upslanted palpebral fissure 31 HP:0000582
23 thin vermilion border 31 HP:0000233
24 synophrys 31 HP:0000664
25 aggressive behavior 31 HP:0000718
26 high forehead 31 HP:0000348
27 joint hypermobility 31 HP:0001382
28 round face 31 HP:0000311
29 impulsivity 31 HP:0100710
30 tapered finger 31 HP:0001182
31 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
synophrys
hypermetropia
more
Skeletal Hands:
clinodactyly
tapering fingers

Head And Neck Mouth:
high palate
thin lips

Head And Neck Face:
micrognathia
long philtrum
short philtrum
high forehead
round face

Skeletal:
joint hypermobility

Head And Neck Nose:
small nose
upturned nose
thick alae nasi

Skin Nails Hair Skin:
cafe au lait spots

Growth Weight:
obesity

Neurologic Central Nervous System:
intellectual disability
global developmental delay
learning disabilities

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
anxiety
impulsivity
autistic features
mood disorders
aggression
more
Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
large ears
thick helices
thick earlobes

Skeletal Feet:
skin syndactyly of the second and third toes

Clinical features from OMIM:

617991

Drugs & Therapeutics for Chung-Jansen Syndrome

Search Clinical Trials , NIH Clinical Center for Chung-Jansen Syndrome

Genetic Tests for Chung-Jansen Syndrome

Genetic tests related to Chung-Jansen Syndrome:

# Genetic test Affiliating Genes
1 Chung-Jansen Syndrome 29 PHIP

Anatomical Context for Chung-Jansen Syndrome

MalaCards organs/tissues related to Chung-Jansen Syndrome:

40
Skin

Publications for Chung-Jansen Syndrome

Articles related to Chung-Jansen Syndrome:

# Title Authors PMID Year
1
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. 61 52 56 6
29209020 2018
2
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. 56 6
27900362 2016
3
Diagnostic exome sequencing in persons with severe intellectual disability. 56 6
23033978 2012

Variations for Chung-Jansen Syndrome

ClinVar genetic disease variations for Chung-Jansen Syndrome:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHIP NM_017934.7(PHIP):c.298_299del (p.Leu100fs)deletion Pathogenic 545395 rs1554212744 6:79770426-79770427 6:79060709-79060710
2 PHIP NM_017934.7(PHIP):c.328C>A (p.Arg110Ser)SNV Pathogenic 545397 rs768324201 6:79770397-79770397 6:79060680-79060680
3 PHIP NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter)SNV Pathogenic 545398 rs1554196907 6:79671492-79671492 6:78961775-78961775
4 PHIP NM_017934.7(PHIP):c.4570del (p.Ser1524fs)deletion Pathogenic 627524 rs1562114190 6:79655778-79655778 6:78946061-78946061
5 PHIP NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer)deletion Pathogenic 627522 rs1562127631 6:79671468-79671468 6:78961751-78961751
6 PHIP NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer)deletion Pathogenic 627527 rs1562134961 6:79679596-79679596 6:78969879-78969879
7 PHIP NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs)deletion Pathogenic 627525 rs1562150844 6:79692625-79692628 6:78982908-78982911
8 PHIP NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter)SNV Pathogenic 39979 rs1562128924 6:79672902-79672902 6:78963185-78963185
9 PHIP NM_017934.7(PHIP):c.540_541insA (p.Gly181fs)insertion Pathogenic 627523 rs1562203136 6:79752619-79752620 6:79042902-79042903
10 PHIP NM_017934.7(PHIP):c.705T>G (p.Tyr235Ter)SNV Pathogenic 634616 rs1562189451 6:79735777-79735777 6:79026060-79026060
11 PHIP NM_017934.7(PHIP):c.3656+1242A>TSNV Pathogenic 638583 6:79670165-79670165 6:78960448-78960448
12 PHIP NM_017934.7(PHIP):c.600+1deldeletion Pathogenic 504194 rs1554210066 6:79752559-79752559 6:79042842-79042842
13 PHIP NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs)indel Pathogenic/Likely pathogenic 524089 rs1554210073 6:79752561-79752562 6:79042844-79042845
14 PHIP NM_017934.7(PHIP):c.779del (p.Leu260fs)deletion Likely pathogenic 242322 rs878854421 6:79735703-79735703 6:79025986-79025986
15 PHIP NM_017934.7(PHIP):c.50T>C (p.Phe17Ser)SNV Likely pathogenic 242321 rs878854420 6:79787621-79787621 6:79077904-79077904
16 PHIP NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)SNV Likely pathogenic 426892 rs1085307845 6:79735299-79735299 6:79025582-79025582
17 PHIP NM_017934.7(PHIP):c.3782+3_3782+6delshort repeat Likely pathogenic 430079 rs1131691771 6:79668186-79668189 6:78958469-78958472
18 PHIP NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg)SNV Likely pathogenic 627526 rs1562171209 6:79713538-79713538 6:79003821-79003821
19 PHIP NM_017934.7(PHIP):c.686C>T (p.Ser229Leu)SNV Likely pathogenic 627528 rs755604487 6:79735796-79735796 6:79026079-79026079
20 PHIP NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)SNV Uncertain significance 523846 rs200788163 6:79680593-79680593 6:78970876-78970876
21 PHIP NM_017934.7(PHIP):c.2319+1deldeletion not provided 684552 6:79700584-79700584 6:78990867-78990867

Expression for Chung-Jansen Syndrome

Search GEO for disease gene expression data for Chung-Jansen Syndrome.

Pathways for Chung-Jansen Syndrome

GO Terms for Chung-Jansen Syndrome

Sources for Chung-Jansen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
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48 NCI
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53 NINDS
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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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