COCOS
MCID: CCN007
MIFTS: 41

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 58 12 76 38 30 13 6 15 41 74
Fetal Encasement Syndrome 58 12 60 76
Fetal Diseases 45 74
Cocos 76

Characteristics:

HPO:

33
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 pulmonary alveolar microlithiasis, and has symptoms including morning sickness An important gene associated with Cocoon Syndrome is CHUK (Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex), and among its related pathways/superpathways are MAPK signaling pathway and Chemokine signaling pathway. Affiliated tissues include skin, liver and tongue, and related phenotypes are microcephaly and thin skin

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cocoon Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 HP:0000252
2 thin skin 33 HP:0000963
3 upper limb undergrowth 33 HP:0009824
4 protruding tongue 33 HP:0010808
5 omphalocele 33 HP:0001539
6 mandibular aplasia 33 HP:0009939
7 anotia 33 HP:0009892
8 lower limb undergrowth 33 HP:0009816
9 absent external genitalia 33 HP:0000042
10 aplasia of the sweat glands 33 HP:0011136

Clinical features from OMIM:

613630

UMLS symptoms related to Cocoon Syndrome:


morning sickness

GenomeRNAi Phenotypes related to Cocoon Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.62 CHUK RIPK4

MGI Mouse Phenotypes related to Cocoon Syndrome:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
2 craniofacial MP:0005382 9.99 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
3 digestive/alimentary MP:0005381 9.97 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
4 growth/size/body region MP:0005378 9.93 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
5 embryo MP:0005380 9.88 CHUK GRHL3 IRF6 SFN TGFB3
6 hematopoietic system MP:0005397 9.83 CHUK GRHL3 RIPK4 SFN TGFB3
7 immune system MP:0005387 9.8 CHUK GRHL3 RIPK4 SFN TGFB3
8 limbs/digits/tail MP:0005371 9.8 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
9 integument MP:0010771 9.77 CHUK GRHL3 IRF6 RIPK4 SFN
10 mortality/aging MP:0010768 9.73 CHUK GRHL3 IRF6 RIPK4 SFN TGFB3
11 respiratory system MP:0005388 9.46 CHUK RIPK4 SFN TGFB3
12 skeleton MP:0005390 9.35 CHUK GRHL3 IRF6 SFN TGFB3
13 vision/eye MP:0005391 8.92 CHUK GRHL3 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 30 CHUK

Anatomical Context for Cocoon Syndrome

MalaCards organs/tissues related to Cocoon Syndrome:

42
Skin, Liver, Tongue, T Cells, B Cells, Lung, Eye

Publications for Cocoon Syndrome

Articles related to Cocoon Syndrome:

(show all 20)
# Title Authors Year
1
Abdominal cocoon syndrome: an obstructive adhesiolytic metamorphosis. ( 30975778 )
2019
2
Abdominal Cocoon Syndrome: Two Cases of an Anatomical Abnormality. ( 31073417 )
2019
3
Abdominal Cocoon Syndrome following Primary Subfertility Management with IVF-ET. ( 30387475 )
2018
4
Cocoon syndrome with hepatic involvement. Incidental finding during orthotopic liver transplantation. ( 27863690 )
2017
5
An association between transmesenteric internal hernia and abdominal cocoon syndrome: A case report. ( 28040668 )
2017
6
Abdominal Cocoon Syndrome: a Rare Cause for Recurrent Abdominal Pain. ( 28116665 )
2017
7
Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction. ( 27239122 )
2016
8
Unusual Cause of Mechanical Ileus: Abdominal Cocoon Syndrome. ( 30038978 )
2016
9
Abdominal cocoon syndrome: A diagnostic and therapeutic challenge. Case report. ( 24161416 )
2015
10
Abdominal cocoon syndrome is a rare cause of mechanical intestinal obstructions: a report of two cases. ( 25671606 )
2015
11
Idiopathic abdominal cocoon syndrome: Preoperative diagnosis with computed tomography. ( 25835123 )
2015
12
Abdominal cocoon syndrome caused by Mycobacterium bovis from consumption of unpasteurised cow's milk. ( 26607132 )
2015
13
Rare etiology of mechanical intestinal obstruction: Abdominal cocoon syndrome. ( 25405199 )
2014
14
Abdominal cocoon syndrome (idiopathic sclerosing encapsulating peritonitis): how easy is its diagnosis preoperatively? A case report. ( 23738183 )
2013
15
A mystery wrapped in an enigma: the abdominal cocoon syndrome. ( 23254530 )
2012
16
Abdominal cocoon syndrome: preoperative diagnostic criteria, good clinical outcome with medical treatment and review of the literature. ( 23864454 )
2012
17
Abdominal cocoon syndrome as a rare cause of mechanical bowel obstruction: report of two cases. ( 22290011 )
2011
18
Mutant CHUK and severe fetal encasement malformation. ( 20961246 )
2010
19
Abdominal cocoon syndrome. ( 16630775 )
2006
20
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:

38 (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 9.56 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 9.32 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....