MCID: CRZ003
MIFTS: 38

Crouzonodermoskeletal Syndrome malady

Eye, Bone, Fetal categories

Summaries for Crouzonodermoskeletal Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.

MalaCards: Crouzonodermoskeletal Syndrome, also known as crouzon syndrome with acanthosis nigricans, is related to acanthosis nigricans and achondroplasia, and has symptoms including frontal bossing/prominent forehead, hypertelorism and cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia. An important gene associated with Crouzonodermoskeletal Syndrome is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Regulation of Actin Cytoskeleton and MAPK signaling pathway. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin.

Wikipedia:64 Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of... more...

Description from OMIM:47 612247

Aliases & Classifications for Crouzonodermoskeletal Syndrome

Sources:
64Wikipedia, 21Genetics Home Reference, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone


Characteristics (Orphanet epidemiological data):

49
crouzon syndrome - acanthosis nigricans:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

crouzonodermoskeletal syndrome 64 21
crouzon syndrome with acanthosis nigricans 64 20 22 21 47 61
crouzon syndrome - acanthosis nigricans 49
crouzono-dermoskeletal syndrome 49


External Ids:

OMIM47 612247
ICD10 via Orphanet26 Q75.1

Related Diseases for Crouzonodermoskeletal Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Crouzonodermoskeletal Syndrome:



Diseases related to crouzonodermoskeletal syndrome

Clinical Features for Crouzonodermoskeletal Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

612247

Symptoms:

49 (show all 29)
  • frontal bossing/prominent forehead
  • hypertelorism
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ptosis
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • cranial hypertension
  • abnormal vertebral size/shape
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • brachycephaly/flat occiput
  • mid-facial hypoplasia/short/small midface
  • metacarpal anomalies/archibald's sign
  • short hand/brachydactyly
  • strabismus/squint
  • facial pain/cephalalgia/migraine
  • choanal atresia
  • conductive deafness/hearing loss
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • high forehead
  • arnold-chiari anomaly
  • proptosis/exophthalmos
  • acanthosis nigricans
  • beaked nose
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • turricephaly/oxycephaly/acrocephaly
  • sacro-coccyx/sacrum anomaly

Drugs & Therapeutics for Crouzonodermoskeletal Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Crouzonodermoskeletal Syndrome

Drug clinical trials:

Search ClinicalTrials for Crouzonodermoskeletal Syndrome

Search NIH Clinical Center for Crouzonodermoskeletal Syndrome

Search CenterWatch for Crouzonodermoskeletal Syndrome

Genetic Tests for Crouzonodermoskeletal Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Crouzonodermoskeletal Syndrome:

id Genetic test Affiliating Genes
1 Crouzon Syndrome With Acanthosis Nigricans20 22 FGFR3

Anatomical Context for Crouzonodermoskeletal Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Crouzonodermoskeletal Syndrome:

33
Skin

Animal Models for Crouzonodermoskeletal Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Crouzonodermoskeletal Syndrome

Sources:
51PubMed
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Articles related to Crouzonodermoskeletal Syndrome:

idTitleAuthorsYear
1
Crouzonodermoskeletal syndrome. (14969379)
2004
2
Let's call it &quot;Crouzonodermoskeletal syndrome&quot; so we won't be prisoners of our own conventional terminology. (10213050)
1999

Genetic Variations for Crouzonodermoskeletal Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Crouzonodermoskeletal Syndrome:

63
id Symbol AA change Variation SNP ID
1FGFR3p.Ala391GluVAR_004156rs28931615

Expression for genes affiliated with Crouzonodermoskeletal Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Crouzonodermoskeletal Syndrome

Search GEO for disease gene expression data for Crouzonodermoskeletal Syndrome.

Pathways for genes affiliated with Crouzonodermoskeletal Syndrome

Sources:
38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 54Reactome, 53R&D Systems, 4Cell Signaling Technology, 50PharmGKB, 60Tocris Bioscience, 12EMD Millipore
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Pathways related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1FGFR3, FGFR2
2
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9.1FGFR2, FGFR3
3
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9.1FGFR3, FGFR2
4
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9.1FGFR2, FGFR3
59.1FGFR3, FGFR2
6
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9.1FGFR3, FGFR2
7
Hide members
9.1FGFR3, FGFR2
8
Hide members
9.1FGFR3, FGFR2
9
Hide members
9.1FGFR3, FGFR2
10
Hide members
9.1FGFR3, FGFR2
11
Hide members
9.1FGFR3, FGFR2
129.1FGFR2, FGFR3
139.1FGFR3, FGFR2
14
Hide members
9.1FGFR3, FGFR2
15
Hide members
9.1FGFR2, FGFR3
169.1FGFR3, FGFR2
179.1FGFR3, FGFR2
189.1FGFR3, FGFR2
19
Hide members
9.1FGFR2, FGFR3
20
Hide members
9.1FGFR3, FGFR2
21
Hide members
9.1FGFR3, FGFR2
229.1FGFR2, FGFR3
23
Hide members
9.1FGFR3, FGFR2
24
Hide members
9.1FGFR3, FGFR2
25
Hide members
9.1FGFR3, FGFR2
26
Hide members
9.1FGFR2, FGFR3
27
Development FGF-family signaling
Hide members
9.1FGFR3, FGFR2
289.1FGFR3, FGFR2
299.1FGFR3, FGFR2

Compounds for genes affiliated with Crouzonodermoskeletal Syndrome

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1su 5402609.4FGFR3, FGFR2
2fiin 1 hydrochloride609.4FGFR3, FGFR2
3pd 161570609.4FGFR3, FGFR2
4su5402459.4FGFR2, FGFR3
5pd 17307445 6010.4FGFR3, FGFR2
6palifermin45 1110.4FGFR3, FGFR2
7Ponatinib 119.3FGFR3, FGFR2
8thalidomide45 50 60 1112.3FGFR2, FGFR3
9sulfate45 2410.3FGFR3, FGFR2
10guanine45 11 2411.2FGFR3, FGFR2
11phenylalanine459.2FGFR3, FGFR2
12phosphotyrosine459.1FGFR2, FGFR3
13lysine459.1FGFR3, FGFR2
14doxorubicin45 50 1111.0FGFR3, FGFR2
15paraffin458.8FGFR3, FGFR2

GO Terms for genes affiliated with Crouzonodermoskeletal Syndrome

Sources:
16Gene Ontology
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Cellular components related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.1FGFR3, FGFR2

Biological processes related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:0105189.4FGFR3, FGFR2
2negative regulation of mitosisGO:0458399.4FGFR3, FGFR2
3lens fiber cell developmentGO:0703079.4FGFR3, FGFR2
4bone morphogenesisGO:0603499.4FGFR3, FGFR2
5positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.4FGFR2, FGFR3
6peptidyl-tyrosine phosphorylationGO:0181089.4FGFR3, FGFR2
7positive regulation of MAPK cascadeGO:0434109.4FGFR3, FGFR2
8positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGFR2
9phosphatidylinositol-mediated signalingGO:0480159.3FGFR2, FGFR3
10insulin receptor signaling pathwayGO:0082869.3FGFR3, FGFR2
11protein autophosphorylationGO:0467779.2FGFR3, FGFR2
12fibroblast growth factor receptor signaling pathwayGO:0085439.2FGFR3, FGFR2
13Fc-epsilon receptor signaling pathwayGO:0380959.1FGFR2, FGFR3
14positive regulation of cell proliferationGO:0082849.1FGFR3, FGFR2
15epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR3, FGFR2
16neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR3, FGFR2

Molecular functions related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.1FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.0FGFR3, FGFR2
3fibroblast growth factor bindingGO:0171348.8FGFR3, FGFR2

Products for genes affiliated with Crouzonodermoskeletal Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crouzonodermoskeletal Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet