MCID: CRZ003
MIFTS: 48

Crouzonodermoskeletal Syndrome malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Crouzonodermoskeletal Syndrome

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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 based summary: Crouzonodermoskeletal Syndrome, also known as crouzon syndrome with acanthosis nigricans, is related to crouzon syndrome and acanthosis nigricans, and has symptoms including frontal bossing/prominent forehead, high forehead and acanthosis nigricans. An important gene associated with Crouzonodermoskeletal Syndrome is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are p70S6K Signaling and Signaling by FGFR. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related mouse phenotype hearing/vestibular/ear.

Wikipedia:65 Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of... more...

Description from OMIM:46 612247

Aliases & Classifications for Crouzonodermoskeletal Syndrome

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Sources:
65Wikipedia, 21Genetics Home Reference, 20GeneTests, 22GTR, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Crouzonodermoskeletal Syndrome, Aliases & Descriptions:

Name: Crouzonodermoskeletal Syndrome 65 21
Crouzon Syndrome with Acanthosis Nigricans 65 20 22 21 46 62
 
Crouzon Syndrome - Acanthosis Nigricans 48
Crouzon-Dermoskeletal Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
crouzon syndrome - acanthosis nigricans:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 612247
ICD10 via Orphanet26 Q75.1

Related Diseases for Crouzonodermoskeletal Syndrome

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



Diseases related to crouzonodermoskeletal syndrome

Symptoms for Crouzonodermoskeletal Syndrome

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Clinical features from OMIM:

612247

Symptoms:

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

HPO human phenotypes related to Crouzonodermoskeletal Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 high forehead hallmark (90%) HP:0000348
2 acanthosis nigricans hallmark (90%) HP:0000956
3 frontal bossing hallmark (90%) HP:0002007
4 hydrocephalus typical (50%) HP:0000238
5 malar flattening typical (50%) HP:0000272
6 hypertelorism typical (50%) HP:0000316
7 conductive hearing impairment typical (50%) HP:0000405
8 choanal atresia typical (50%) HP:0000453
9 strabismus typical (50%) HP:0000486
10 ptosis typical (50%) HP:0000508
11 proptosis typical (50%) HP:0000520
12 brachydactyly syndrome typical (50%) HP:0001156
13 abnormality of the metacarpal bones typical (50%) HP:0001163
14 arnold-chiari malformation typical (50%) HP:0002308
15 increased intracranial pressure typical (50%) HP:0002516
16 abnormal form of the vertebral bodies typical (50%) HP:0003312
17 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
18 inflammatory abnormality of the eye typical (50%) HP:0100533
19 abnormality of the palate occasional (7.5%) HP:0000174
20 convex nasal ridge occasional (7.5%) HP:0000444
21 visual impairment occasional (7.5%) HP:0000505
22 optic atrophy occasional (7.5%) HP:0000648
23 migraine occasional (7.5%) HP:0002076
24 respiratory insufficiency occasional (7.5%) HP:0002093
25 abnormality of the sacrum occasional (7.5%) HP:0005107

Drugs & Therapeutics for Crouzonodermoskeletal Syndrome

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Drug clinical trials:

Search ClinicalTrials for Crouzonodermoskeletal Syndrome

Search NIH Clinical Center for Crouzonodermoskeletal Syndrome

Genetic Tests for Crouzonodermoskeletal Syndrome

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Genetic tests related to Crouzonodermoskeletal Syndrome:

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

Anatomical Context for Crouzonodermoskeletal Syndrome

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MalaCards organs/tissues related to Crouzonodermoskeletal Syndrome:

32
Bone, Skin, Eye, Cerebellum, Lung

Animal Models for Crouzonodermoskeletal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Crouzonodermoskeletal Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FGFR3, FGFR2

Publications for Crouzonodermoskeletal Syndrome

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Articles related to Crouzonodermoskeletal Syndrome:

idTitleAuthorsYear
1
Crouzonodermoskeletal syndrome. (14969379)
2004

Variations for Crouzonodermoskeletal Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Crouzonodermoskeletal Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ala391GluVAR_004156rs28931615

Clinvar genetic disease variations for Crouzonodermoskeletal Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu)single nucleotide variantPathogenicrs28931615GRCh37Chr 4, 1806153: 1806153

Expression for genes affiliated with Crouzonodermoskeletal Syndrome

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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

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Pathways related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR3, FGFR2
2
Show member pathways
9.1FGFR2, FGFR3
3
Show member pathways
9.1FGFR3, FGFR2
49.1FGFR3, FGFR2
5
Show member pathways
9.1FGFR2, FGFR3
6
Show member pathways
9.1FGFR3, FGFR2
7
Show member pathways
9.1FGFR2, FGFR3
89.1FGFR3, FGFR2
9
Show member pathways
9.1FGFR2, FGFR3
10
Show member pathways
9.1FGFR2, FGFR3
11
Show member pathways
9.1FGFR2, FGFR3
12
Show member pathways
9.1FGFR3, FGFR2
13
Show member pathways
9.1FGFR3, FGFR2
14
Show member pathways
9.1FGFR3, FGFR2
15
Show member pathways
9.1FGFR2, FGFR3
16
Show member pathways
9.1FGFR3, FGFR2
17
Show member pathways
9.1FGFR3, FGFR2
18
Show member pathways
9.1FGFR2, FGFR3
19
Show member pathways
9.1FGFR3, FGFR2
20
Show member pathways
MAPK signaling pathway37
9.1FGFR2, FGFR3
219.1FGFR3, FGFR2
229.1FGFR2, FGFR3
239.1FGFR3, FGFR2
249.1FGFR3, FGFR2
25
Show member pathways
9.1FGFR2, FGFR3
26
Show member pathways
9.1FGFR3, FGFR2
27
Show member pathways
9.1FGFR3, FGFR2
28
Show member pathways
9.1FGFR3, FGFR2
29
Show member pathways
9.1FGFR2, FGFR3
30
Show member pathways
9.1FGFR3, FGFR2
31
Show member pathways
9.1FGFR3, FGFR2
32
Show member pathways
9.1FGFR2, FGFR3
33
Show member pathways
9.1FGFR3, FGFR2
34
Show member pathways
9.1FGFR3, FGFR2
35
Show member pathways
9.1FGFR2, FGFR3
36
Show member pathways
9.1FGFR3, FGFR2
37
Show member pathways
Signaling Pathways in Glioblastoma37
9.1FGFR2, FGFR3
389.1FGFR3, FGFR2
399.1FGFR3, FGFR2

Compounds for genes affiliated with Crouzonodermoskeletal Syndrome

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Compounds related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1su 5402619.4FGFR3, FGFR2
2fiin 1 hydrochloride619.4FGFR3, FGFR2
3pd 161570619.4FGFR3, FGFR2
4su5402449.4FGFR3, FGFR2
5pd 17307444 6110.4FGFR2, FGFR3
6palifermin44 1110.4FGFR3, FGFR2
7ponatinib50 1110.4FGFR3, FGFR2
8thalidomide44 50 61 1112.3FGFR3, FGFR2
9sulfate44 2410.3FGFR2, FGFR3
10guanine44 24 1111.3FGFR3, FGFR2
11phenylalanine449.2FGFR3, FGFR2
12phosphotyrosine449.2FGFR3, FGFR2
13doxorubicin44 50 1111.1FGFR2, FGFR3
14oligonucleotide449.1FGFR3, FGFR2
15paraffin449.0FGFR3, FGFR2
16lysine448.8FGFR3, FGFR2

GO Terms for genes affiliated with Crouzonodermoskeletal Syndrome

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Cellular components related to Crouzonodermoskeletal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1FGFR3, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.8FGFR3, FGFR2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:0105189.5FGFR3, FGFR2
2lens fiber cell developmentGO:0703079.5FGFR3, FGFR2
3negative regulation of mitosisGO:0458399.5FGFR2, FGFR3
4bone morphogenesisGO:0603499.4FGFR3, FGFR2
5negative regulation of epithelial cell proliferationGO:0506809.4FGFR3, FGFR2
6positive regulation of canonical Wnt signaling pathwayGO:0902639.4FGFR2, FGFR3
7positive regulation of MAPK cascadeGO:0434109.4FGFR3, FGFR2
8peptidyl-tyrosine phosphorylationGO:0181089.4FGFR3, FGFR2
9positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR2, FGFR3
10phosphatidylinositol-mediated signalingGO:0480159.4FGFR3, FGFR2
11insulin receptor signaling pathwayGO:0082869.4FGFR2, FGFR3
12protein autophosphorylationGO:0467779.3FGFR3, FGFR2
13fibroblast growth factor receptor signaling pathwayGO:0085439.3FGFR3, FGFR2
14Fc-epsilon receptor signaling pathwayGO:0380959.3FGFR2, FGFR3
15epidermal growth factor receptor signaling pathwayGO:0071739.2FGFR3, FGFR2
16cell-cell signalingGO:0072679.2FGFR2, FGFR3
17neurotrophin TRK receptor signaling pathwayGO:0480119.1FGFR3, FGFR2
18innate immune responseGO:0450879.1FGFR3, FGFR2
19positive regulation of cell proliferationGO:0082849.0FGFR3, FGFR2
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, 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

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Sources for Crouzonodermoskeletal Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet