COCOS
MCID: FTL075
MIFTS: 46

Fetal Encasement Syndrome (COCOS)

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

Aliases & Classifications for Fetal Encasement Syndrome

MalaCards integrated aliases for Fetal Encasement Syndrome:

Name: Fetal Encasement Syndrome 56 12 58 73
Cocoon Syndrome 56 12 73 36 29 13 6 15 39
Fetal Diseases 43
Cocos 73

Characteristics:

HPO:

31
fetal encasement syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060647
OMIM 56 613630
KEGG 36 H00882
MeSH 43 D005315
Orphanet 58 ORPHA465824
MedGen 41 C3150891

Summaries for Fetal Encasement Syndrome

KEGG : 36 Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events.

MalaCards based summary : Fetal Encasement Syndrome, also known as cocoon syndrome, is related to fetal erythroblastosis and intestinal obstruction. An important gene associated with Fetal Encasement 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. The drugs Levetiracetam and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are microcephaly and protruding tongue

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.

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 613630

Related Diseases for Fetal Encasement Syndrome

Diseases related to Fetal Encasement Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 fetal erythroblastosis 11.2
2 intestinal obstruction 10.4
3 peritonitis 10.4
4 dermatitis 10.3
5 colorectal cancer 10.1
6 allergic hypersensitivity disease 10.1
7 hyperglycemia 10.1
8 posttransplant acute limbic encephalitis 10.1
9 rapidly involuting congenital hemangioma 10.1
10 ileus 10.1
11 amyotrophic lateral sclerosis 1 10.1
12 dermatitis, atopic 10.1
13 kala-azar 1 10.1
14 acute promyelocytic leukemia 10.1
15 common cold 10.1
16 nephrotic syndrome 10.1
17 diarrhea 10.1
18 lateral sclerosis 10.1
19 contact dermatitis 10.1
20 gastritis 10.1
21 chronic kidney disease 10.1
22 leishmaniasis 10.1
23 cryptorchidism, unilateral or bilateral 10.0
24 inguinal hernia 10.0
25 bartsocas-papas syndrome 10.0 RIPK4 IRF6
26 ankyloblepharon-ectodermal defects-cleft lip/palate 9.9 RIPK4 IRF6
27 breast cancer 9.9
28 hypertriglyceridemia, familial 9.9
29 osteoporosis 9.9
30 pheochromocytoma 9.9
31 dowling-degos disease 1 9.9
32 urate oxidase, pseudogene 9.9
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
34 immune deficiency disease 9.9
35 myeloma, multiple 9.9
36 ocular motor apraxia 9.9
37 pancreatic cancer 9.9
38 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
39 meester-loeys syndrome 9.9
40 leukemia, acute myeloid 9.9
41 allergic rhinitis 9.9
42 human immunodeficiency virus type 1 9.9
43 asthma-related traits 4 9.9
44 lung cancer susceptibility 3 9.9
45 fatty liver disease, nonalcoholic 1 9.9
46 gastric cancer 9.9
47 leukemia, acute lymphoblastic 3 9.9
48 pachyonychia congenita 3 9.9
49 deficiency anemia 9.9
50 autoimmune uveitis 9.9

Graphical network of the top 20 diseases related to Fetal Encasement Syndrome:



Diseases related to Fetal Encasement Syndrome

Symptoms & Phenotypes for Fetal Encasement Syndrome

Human phenotypes related to Fetal Encasement Syndrome:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 protruding tongue 31 HP:0010808
3 omphalocele 31 HP:0001539
4 aplasia of the sweat glands 31 HP:0011136
5 thin skin 31 HP:0000963
6 mandibular aplasia 31 HP:0009939
7 lower limb undergrowth 31 HP:0009816
8 anotia 31 HP:0009892
9 absent external genitalia 31 HP:0000042
10 upper limb undergrowth 31 HP:0009824

Clinical features from OMIM:

613630

MGI Mouse Phenotypes related to Fetal Encasement Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 CHUK GRHL3 IRF6 KDF1 NFKBIE OVOL1
2 craniofacial MP:0005382 9.88 CHUK GRHL3 IRF6 KDF1 RIPK4 SFN
3 growth/size/body region MP:0005378 9.87 CHUK GRHL3 IRF6 KDF1 OVOL1 RIPK4
4 digestive/alimentary MP:0005381 9.85 CHUK GRHL3 IRF6 KDF1 RIPK4 SFN
5 integument MP:0010771 9.7 CHUK GRHL3 IRF6 KDF1 OVOL1 RIPK4
6 hearing/vestibular/ear MP:0005377 9.56 CHUK IRF6 KDF1 SFN
7 limbs/digits/tail MP:0005371 9.43 CHUK GRHL3 IRF6 KDF1 RIPK4 SFN
8 mortality/aging MP:0010768 9.23 CHUK GRHL3 IRF6 KDF1 NFKBIE OVOL1

Drugs & Therapeutics for Fetal Encasement Syndrome

Drugs for Fetal Encasement Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved Phase 1, Phase 2 102767-28-2 441341
2
Ethanol Approved 64-17-5 702
3
Prednisolone phosphate Approved, Vet_approved 302-25-0
4
Methylprednisolone Approved, Vet_approved 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved 2921-57-5
6
Prednisolone Approved, Vet_approved 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved 52-21-1
8
Prednisolone hemisuccinate Experimental 2920-86-7
9 Gastrointestinal Agents
10 Methylprednisolone Acetate
11 Antineoplastic Agents, Hormonal
12 Hormones
13 glucocorticoids
14 Hormone Antagonists
15 Antiemetics
16 Neuroprotective Agents
17 Protective Agents
18 Anti-Inflammatory Agents
19 Anesthetics
20 Anticonvulsants

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetic and Safety Trial of Intravenous Levetiracetam in the Treatment of Neonatal Seizures Completed NCT00884052 Phase 1, Phase 2 Low dose levetiracetam;High dose levetiracetam
2 Bone Density of Large Newborn Infants and Infants of Diabetic Mothers Unknown status NCT01117324
3 Fatty Acid Ethyl Esters in Meconium of Infants of Diabetic Mothers: a Pilot Trial Unknown status NCT02308735
4 The Clinical Utility of Urine Intestinal Fatty Acid Binding Protein in the Management of Very Low Birth Weight Infants With Meconium Obstruction Completed NCT02864446
5 Preoperative Corticosteroid Therapy in Neonates Undergoing Cardiopulmonary Bypass Completed NCT00934843 methylprednisolone (IVMP);methylprednisolone (two doses IVMP)
6 The Prenatal Effects of Congenital Heart Disease on Neurodevelopmental Outcome Completed NCT00713635
7 Corticosteroid Therapy in Neonates Undergoing Cardiopulmonary Bypass Completed NCT01579513 Methylprednisolone;Placebo
8 Prospective Cohort for Finding Risk Factors of Meconium Obstruction and Respiratory Distress Syndrome in Preterm Infants Recruiting NCT03513640
9 Characteristic and Modulation of Gut Microbiota on the Consequences of Pregnancy-based on the Maternal and Offspring Health Cohort Recruiting NCT04190511
10 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
11 The Biomarkers of Neurological Disease in Utero Study Recruiting NCT04043572

Search NIH Clinical Center for Fetal Encasement Syndrome

Cochrane evidence based reviews: fetal diseases

Genetic Tests for Fetal Encasement Syndrome

Genetic tests related to Fetal Encasement Syndrome:

# Genetic test Affiliating Genes
1 Cocoon Syndrome 29 CHUK

Anatomical Context for Fetal Encasement Syndrome

MalaCards organs/tissues related to Fetal Encasement Syndrome:

40
Skin, Bone, Heart, T Cells, B Cells, Tongue, Liver

Publications for Fetal Encasement Syndrome

Articles related to Fetal Encasement Syndrome:

(show all 46)
# Title Authors PMID Year
1
Mutant CHUK and severe fetal encasement malformation. 6 56
20961246 2010
2
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. 56 61
22197489 2012
3
IKK1-deficient mice exhibit abnormal development of skin and skeleton. 56
10346820 1999
4
Limb and skin abnormalities in mice lacking IKKalpha. 56
10195895 1999
5
Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. 56
10195896 1999
6
Two Different Clinical Approaches with Mortality Assessment of Four Cases: Complete and Incomplete Type of Abdominal Cocoon Syndrome. 61
32082687 2020
7
Mechanical intestinal obstruction following laparoscopic inguinal hernia repair in a patient with abdominal cocoon syndrome. 61
31867099 2019
8
Abdominal cocoon syndrome: A rare cause of acute abdomen syndrome. 61
31701503 2019
9
Sclerosing peritonitis presenting as complete mechanical bowel obstruction: a case report. 61
31623685 2019
10
Abdominal Cocoon Syndrome. 61
31455947 2019
11
Abdominal Cocoon Syndrome. 61
31431239 2019
12
Periderm: Life-cycle and function during orofacial and epidermal development. 61
28803895 2019
13
Strangulated Inguinal Hernia Complicated with Abdominal Cocoon Syndrome. 61
31126385 2019
14
Abdominal cocoon syndrome: an obstructive adhesiolytic metamorphosis. 61
30975778 2019
15
Abdominal Cocoon Syndrome: Two Cases of an Anatomical Abnormality. 61
31073417 2019
16
Abdominal Cocoon Syndrome following Primary Subfertility Management with IVF-ET. 61
30387475 2018
17
[Abdominal cocoon syndrome in an eigth-year-old girl caused acute bowel obstruction]. 61
29260698 2017
18
Cocoon syndrome with hepatic involvement. Incidental finding during orthotopic liver transplantation. 61
27863690 2017
19
Abdominal Cocoon Syndrome: a Rare Cause for Recurrent Abdominal Pain. 61
28116665 2017
20
An association between transmesenteric internal hernia and abdominal cocoon syndrome: A case report. 61
28040668 2017
21
Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction. 61
27239122 2016
22
Unusual Cause of Mechanical Ileus: Abdominal Cocoon Syndrome. 61
30038978 2016
23
Abdominal cocoon syndrome caused by Mycobacterium bovis from consumption of unpasteurised cow's milk. 61
26607132 2015
24
Abdominal cocoon syndrome: A diagnostic and therapeutic challenge. Case report. 61
24161416 2015
25
Intestinal Obstruction Due to Idiopathic Sclerosing Encapsulating Peritonitis: A Case Report. 61
26082852 2015
26
Idiopathic abdominal cocoon syndrome: Preoperative diagnosis with computed tomography. 61
25835123 2015
27
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. 61
25691407 2015
28
Abdominal cocoon syndrome is a rare cause of mechanical intestinal obstructions: a report of two cases. 61
25671606 2015
29
Accurate definition and management of idiopathic sclerosing encapsulating peritonitis. 61
25593498 2015
30
Idiopathic encapsulating sclerosing peritonitis. 61
26668535 2015
31
Rare etiology of mechanical intestinal obstruction: Abdominal cocoon syndrome. 61
25405199 2014
32
Periderm prevents pathological epithelial adhesions during embryogenesis. 61
25133425 2014
33
Coexistence of abdominal cocoon, intestinal perforation and incarcerated Meckel's diverticulum in an inguinal hernia: A troublesome condition. 61
24672651 2014
34
Persistent ascites due to sclerosing encapsulating peritonitis mimicking ovarian carcinoma: A case report. 61
25317050 2014
35
A rare case of abdominal cocoon. 61
24141102 2013
36
Abdominal cocoon-A rare cause of intestinal obstruction. 61
24055916 2013
37
Abdominal cocoon syndrome (idiopathic sclerosing encapsulating peritonitis): how easy is its diagnosis preoperatively? A case report. 61
23738183 2013
38
A mystery wrapped in an enigma: the abdominal cocoon syndrome. 61
23254530 2012
39
Abdominal cocoon syndrome: preoperative diagnostic criteria, good clinical outcome with medical treatment and review of the literature. 61
23864454 2012
40
Abdominal cocoon syndrome as a rare cause of mechanical bowel obstruction: report of two cases. 61
22290011 2011
41
Comprehensive surgical intestinal rescue and transplantation program in adult patients: Bologna experience. 61
20172277 2010
42
Abdominal cocoon syndrome. 61
16630775 2006
43
[Sclerosing peritonitis]. 61
15976629 2005
44
[Sclerosing peritonitis. A complication of LeVeen peritoneovenous shunt]. 61
10638155 1999
45
Backgrounds of higher suicide rates among "name university" students: a retrospective study of the past 25 years. 61
3992618 1985
46
Small bowel obstruction caused by the abdominal cocoon syndrome: possible association with the LeVeen shunt. 61
6710346 1984

Variations for Fetal Encasement Syndrome

ClinVar genetic disease variations for Fetal Encasement Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHUK NM_001278.5(CHUK):c.1264C>T (p.Gln422Ter)SNV Pathogenic 8946 rs267606736 10:101964924-101964924 10:100205167-100205167
2 CHUK NM_001278.5(CHUK):c.446A>G (p.Asn149Ser)SNV Uncertain significance 812001 10:101980373-101980373 10:100220616-100220616

Expression for Fetal Encasement Syndrome

Search GEO for disease gene expression data for Fetal Encasement Syndrome.

Pathways for Fetal Encasement Syndrome

Pathways related to Fetal Encasement Syndrome according to KEGG:

36 (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

Pathways related to Fetal Encasement Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 SFN NFKBIE IRF6 CHUK
2 11.44 RIPK4 NFKBIE IRF6 CHUK
3
Show member pathways
11.34 NFKBIE CHUK
4 11.27 NFKBIE CHUK
5
Show member pathways
11.2 NFKBIE CHUK
6 11.1 NFKBIE CHUK
7 11.04 NFKBIE CHUK
8
Show member pathways
11.01 NFKBIE CHUK
9
Show member pathways
10.96 NFKBIE CHUK
10 10.84 SFN CHUK

GO Terms for Fetal Encasement Syndrome

Biological processes related to Fetal Encasement Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.43 SFN IRF6
2 negative regulation of keratinocyte proliferation GO:0010839 9.4 SFN KDF1
3 keratinocyte development GO:0003334 9.37 SFN KDF1
4 positive regulation of epidermal cell differentiation GO:0045606 9.32 SFN KDF1
5 negative regulation of stem cell proliferation GO:2000647 9.26 OVOL1 KDF1
6 regulation of epidermal cell division GO:0010482 9.16 SFN KDF1
7 skin development GO:0043588 9.13 SFN OVOL1 IRF6
8 establishment of skin barrier GO:0061436 8.8 SFN KDF1 GRHL3

Sources for Fetal Encasement 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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