Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandFetal Diseases (D005315)
Parent Node:
expandLimb Deformities, Congenital (D017880)
Parent Node:
expandSkin Abnormalities (D012868)
..Starting node
..expandCOCOON SYNDROME (OMIM:613630)

       Child Nodes:



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2456
Name:COCOON SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D005315|MESH:D012868|MESH:D017880|MESH:D019465
TreeNumbers:C05.660.207/613630 |C05.660.585/613630 |C13.703.277/613630 |C16.131.621.207/613630 |C16.131.621.585/613630 |C16.131.831/613630 |C16.300/613630 |C17.800.804/613630
Synonyms:FETAL ENCASEMENT SYNDROME
Slim Mappings:Congenital abnormality|Fetal disease|Musculoskeletal disease|Pregnancy complication|Skin disease
Reference: MedGen: 613630
MeSH: 613630
OMIM: 613630;

Genes: CHUK;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000042Absent external genitalia
3 HP:0009892Anotia
4 HP:0011136Aplasia of the sweat glands
5 HP:0009816Lower limb undergrowth
6 HP:0009939Mandibular aplasia
7 HP:0000252Microcephaly
8 HP:0001539Omphalocele
9 HP:0010808Protruding tongue
10 HP:0000963Thin skin
11 HP:0009824Upper limb undergrowth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001278.4(CHUK):c.1264C>T (p.Gln422Ter)1147CHUKPathogenic267606736RCV000009502; NMedGen:C3150891,OMIM:61363010101964924101964924NM_001278.4:c.1264C>TNP_001269.3:p.Gln422TerNC_000010.10:g.101964924G>AOMIM Allelic Variant:600664.0001C3150891 613630 Cocoon syndrome