COCOS
MCID: CCN007
MIFTS: 44

Cocoon Syndrome (COCOS)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cocoon Syndrome

MalaCards integrated aliases for Cocoon Syndrome:

Name: Cocoon Syndrome 57 12 75 37 29 13 6 15 40 73
Fetal Encasement Syndrome 57 12 59 75
Fetal Diseases 44 73
Cocos 75

Characteristics:

HPO:

32
cocoon syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cocoon Syndrome

Disease Ontology : 12 A syndrome that has material basis in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.

MalaCards based summary : Cocoon Syndrome, also known as fetal encasement syndrome, is related to fetal erythroblastosis and xp22.3 microdeletion syndrome, and has symptoms including morning sickness An important gene associated with Cocoon Syndrome is CHUK (Conserved Helix-Loop-Helix Ubiquitous Kinase), and among its related pathways/superpathways are MAPK signaling pathway and Chemokine signaling pathway. Affiliated tissues include skin, heart and tongue, and related phenotypes are microcephaly and thin skin

UniProtKB/Swiss-Prot : 75 Cocoon syndrome: A lethal syndrome characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.

Description from OMIM: 613630

Related Diseases for Cocoon Syndrome

Graphical network of the top 20 diseases related to Cocoon Syndrome:



Diseases related to Cocoon Syndrome

Symptoms & Phenotypes for Cocoon Syndrome

Clinical features from OMIM:

613630

Human phenotypes related to Cocoon Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 thin skin 32 HP:0000963
3 upper limb undergrowth 32 HP:0009824
4 protruding tongue 32 HP:0010808
5 omphalocele 32 HP:0001539
6 mandibular aplasia 32 HP:0009939
7 anotia 32 HP:0009892
8 lower limb undergrowth 32 HP:0009816
9 absent external genitalia 32 HP:0000042
10 aplasia of the sweat glands 32 HP:0011136

UMLS symptoms related to Cocoon Syndrome:


morning sickness

MGI Mouse Phenotypes related to Cocoon Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
2 craniofacial MP:0005382 9.95 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
3 digestive/alimentary MP:0005381 9.93 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
4 growth/size/body region MP:0005378 9.88 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
5 immune system MP:0005387 9.85 CHUK GRHL3 RIPK4 SFN TGFB3 ZBP1
6 embryo MP:0005380 9.83 CHUK GRHL3 IRF6 SFN TGFB3
7 limbs/digits/tail MP:0005371 9.73 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
8 integument MP:0010771 9.72 CHUK GRHL3 IRF6 RIPK4 SFN
9 mortality/aging MP:0010768 9.7 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
10 respiratory system MP:0005388 9.26 CHUK RIPK4 SFN TGFB3
11 skeleton MP:0005390 9.02 CHUK GRHL3 IRF6 SFN TGFB3

Drugs & Therapeutics for Cocoon Syndrome

Search Clinical Trials , NIH Clinical Center for Cocoon Syndrome

Cochrane evidence based reviews: fetal diseases

Genetic Tests for Cocoon Syndrome

Genetic tests related to Cocoon Syndrome:

# Genetic test Affiliating Genes
1 Cocoon Syndrome 29 CHUK

Anatomical Context for Cocoon Syndrome

MalaCards organs/tissues related to Cocoon Syndrome:

41
Skin, Heart, Tongue, T Cells, B Cells, Lung, Breast

Publications for Cocoon Syndrome

Articles related to Cocoon Syndrome:

(show all 17)
# Title Authors Year
1
Abdominal Cocoon Syndrome following Primary Subfertility Management with IVF-ET. ( 30387475 )
2018
2
Abdominal Cocoon Syndrome: a Rare Cause for Recurrent Abdominal Pain. ( 28116665 )
2017
3
Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction. ( 27239122 )
2016
4
Cocoon syndrome with hepatic involvement. Incidental finding during orthotopic liver transplantation. ( 27863690 )
2016
5
An association between transmesenteric internal hernia and abdominal cocoon syndrome: A case report. ( 28040668 )
2016
6
Unusual Cause of Mechanical Ileus: Abdominal Cocoon Syndrome. ( 30038978 )
2016
7
Abdominal cocoon syndrome is a rare cause of mechanical intestinal obstructions: a report of two cases. ( 25671606 )
2015
8
Idiopathic abdominal cocoon syndrome: Preoperative diagnosis with computed tomography. ( 25835123 )
2015
9
Abdominal cocoon syndrome caused by Mycobacterium bovis from consumption of unpasteurised cow's milk. ( 26607132 )
2015
10
Rare etiology of mechanical intestinal obstruction: Abdominal cocoon syndrome. ( 25405199 )
2014
11
Abdominal cocoon syndrome: A diagnostic and therapeutic challenge. Case report. ( 24161416 )
2013
12
Abdominal cocoon syndrome (idiopathic sclerosing encapsulating peritonitis): how easy is its diagnosis preoperatively? A case report. ( 23738183 )
2013
13
Abdominal cocoon syndrome: preoperative diagnostic criteria, good clinical outcome with medical treatment and review of the literature. ( 23864454 )
2012
14
A mystery wrapped in an enigma: the abdominal cocoon syndrome. ( 23254530 )
2012
15
Abdominal cocoon syndrome as a rare cause of mechanical bowel obstruction: report of two cases. ( 22290011 )
2011
16
Abdominal cocoon syndrome. ( 16630775 )
2006
17
Small bowel obstruction caused by the abdominal cocoon syndrome: possible association with the LeVeen shunt. ( 6710346 )
1984

Variations for Cocoon Syndrome

ClinVar genetic disease variations for Cocoon Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHUK NM_001278.4(CHUK): c.1264C> T (p.Gln422Ter) single nucleotide variant Pathogenic rs267606736 GRCh37 Chromosome 10, 101964924: 101964924
2 CHUK NM_001278.4(CHUK): c.1264C> T (p.Gln422Ter) single nucleotide variant Pathogenic rs267606736 GRCh38 Chromosome 10, 100205167: 100205167

Expression for Cocoon Syndrome

Search GEO for disease gene expression data for Cocoon Syndrome.

Pathways for Cocoon Syndrome

Pathways related to Cocoon Syndrome according to KEGG:

37 (show all 11)
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Chemokine signaling pathway hsa04062
3 Apoptosis hsa04210
4 Osteoclast differentiation hsa04380
5 Toll-like receptor signaling pathway hsa04620
6 NOD-like receptor signaling pathway hsa04621
7 RIG-I-like receptor signaling pathway hsa04622
8 Cytosolic DNA-sensing pathway hsa04623
9 T cell receptor signaling pathway hsa04660
10 B cell receptor signaling pathway hsa04662
11 Adipocytokine signaling pathway hsa04920

GO Terms for Cocoon Syndrome

Biological processes related to Cocoon Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 CHUK GRHL3 IRF6 TGFB3
2 wound healing GO:0042060 9.4 GRHL3 TGFB3
3 keratinocyte differentiation GO:0030216 9.37 IRF6 SFN
4 cell development GO:0048468 9.26 IRF6 TGFB3
5 skin development GO:0043588 9.16 IRF6 SFN
6 establishment of skin barrier GO:0061436 8.96 GRHL3 SFN
7 positive regulation of transcription, DNA-templated GO:0045893 8.92 CHUK GRHL3 IRF6 TGFB3

Sources for Cocoon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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