MCID: CRZ002
MIFTS: 52

Crouzon Syndrome with Acanthosis Nigricans malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Crouzon Syndrome with Acanthosis Nigricans

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OMIM:47 Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome... (612247) more...

MalaCards based summary: Crouzon Syndrome with Acanthosis Nigricans, also known as crouzon syndrome - acanthosis nigricans, is related to crouzon syndrome and acanthosis nigricans, and has symptoms including high forehead, acanthosis nigricans and frontal bossing. An important gene associated with Crouzon Syndrome with Acanthosis Nigricans 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.

Genetics Home Reference:23 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.

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

Aliases & Classifications for Crouzon Syndrome with Acanthosis Nigricans

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Sources:
47OMIM, 11diseasecard, 65Wikipedia, 22GeneTests, 23Genetics Home Reference, 49Orphanet, 24GTR, 28ICD10 via Orphanet
See all sources

Crouzon Syndrome with Acanthosis Nigricans, Aliases & Descriptions:

Name: Crouzon Syndrome with Acanthosis Nigricans 47 11 65 22 23
Crouzon Syndrome - Acanthosis Nigricans 49 24
 
Crouzonodermoskeletal Syndrome 65 23
Crouzon-Dermoskeletal Syndrome 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
crouzon syndrome - acanthosis nigricans:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM47 612247
Orphanet49 93262
ICD10 via Orphanet28 Q75.1

Related Diseases for Crouzon Syndrome with Acanthosis Nigricans

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Graphical network of the top 20 diseases related to Crouzon Syndrome with Acanthosis Nigricans:



Diseases related to crouzon syndrome with acanthosis nigricans

Symptoms for Crouzon Syndrome with Acanthosis Nigricans

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Clinical features from OMIM:

612247

Symptoms:

 49 (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 Crouzon Syndrome with Acanthosis Nigricans:

(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 Crouzon Syndrome with Acanthosis Nigricans

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Drug clinical trials:

Search ClinicalTrials for Crouzon Syndrome with Acanthosis Nigricans

Search NIH Clinical Center for Crouzon Syndrome with Acanthosis Nigricans

Genetic Tests for Crouzon Syndrome with Acanthosis Nigricans

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Genetic tests related to Crouzon Syndrome with Acanthosis Nigricans:

id Genetic test Affiliating Genes
1 Crouzon Syndrome with Acanthosis Nigricans22 24 FGFR3

Anatomical Context for Crouzon Syndrome with Acanthosis Nigricans

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MalaCards organs/tissues related to Crouzon Syndrome with Acanthosis Nigricans:

33
Bone, Skin, Eye, Cerebellum, Lung

Animal Models for Crouzon Syndrome with Acanthosis Nigricans or affiliated genes

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MGI Mouse Phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FGFR3, FGFR2

Publications for Crouzon Syndrome with Acanthosis Nigricans

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Articles related to Crouzon Syndrome with Acanthosis Nigricans:

idTitleAuthorsYear
1
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. (24476664)
2014
2
Cutaneous features of Crouzon syndrome with acanthosis nigricans. (23571469)
2013
3
Crouzon syndrome with acanthosis nigricans: a case-based update. (21136065)
2011
4
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? (20199409)
2010
5
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. (11426459)
2001
6
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
7
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. (10670894)
2000
8
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (7493034)
1995

Variations for Crouzon Syndrome with Acanthosis Nigricans

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UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome with Acanthosis Nigricans:

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

Clinvar genetic disease variations for Crouzon Syndrome with Acanthosis Nigricans:

7
id Gene Variation 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 Crouzon Syndrome with Acanthosis Nigricans

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Search GEO for disease gene expression data for Crouzon Syndrome with Acanthosis Nigricans.

Pathways for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

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Pathways related to Crouzon Syndrome with Acanthosis Nigricans 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 pathway38
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 Glioblastoma38
9.1FGFR2, FGFR3
389.1FGFR3, FGFR2
399.1FGFR3, FGFR2

Compounds for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

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Compounds related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1su 5402619.4FGFR3, FGFR2
2fiin 1 hydrochloride619.4FGFR3, FGFR2
3pd 161570619.4FGFR3, FGFR2
4su5402459.4FGFR3, FGFR2
5pd 17307445 6110.4FGFR2, FGFR3
6palifermin45 1310.4FGFR3, FGFR2
7ponatinib51 1310.4FGFR3, FGFR2
8thalidomide45 51 61 1312.3FGFR3, FGFR2
9sulfate45 2610.3FGFR2, FGFR3
10guanine45 26 1311.3FGFR3, FGFR2
11phenylalanine459.2FGFR3, FGFR2
12phosphotyrosine459.2FGFR3, FGFR2
13doxorubicin45 51 1311.1FGFR2, FGFR3
14oligonucleotide459.1FGFR3, FGFR2
15paraffin459.0FGFR3, FGFR2
16lysine458.8FGFR3, FGFR2

GO Terms for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

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Cellular components related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.1FGFR3, FGFR2
2cytoplasmic membrane-bounded vesicleGO:00160238.8FGFR3, FGFR2

Biological processes related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:00105189.5FGFR3, FGFR2
2lens fiber cell developmentGO:00703079.5FGFR3, FGFR2
3negative regulation of mitosisGO:00458399.5FGFR2, FGFR3
4bone morphogenesisGO:00603499.4FGFR3, FGFR2
5negative regulation of epithelial cell proliferationGO:00506809.4FGFR3, FGFR2
6positive regulation of canonical Wnt signaling pathwayGO:00902639.4FGFR2, FGFR3
7positive regulation of MAPK cascadeGO:00434109.4FGFR3, FGFR2
8peptidyl-tyrosine phosphorylationGO:00181089.4FGFR3, FGFR2
9positive regulation of ERK1 and ERK2 cascadeGO:00703749.4FGFR2, FGFR3
10phosphatidylinositol-mediated signalingGO:00480159.4FGFR3, FGFR2
11insulin receptor signaling pathwayGO:00082869.4FGFR2, FGFR3
12protein autophosphorylationGO:00467779.3FGFR3, FGFR2
13fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR3, FGFR2
14Fc-epsilon receptor signaling pathwayGO:00380959.3FGFR2, FGFR3
15epidermal growth factor receptor signaling pathwayGO:00071739.2FGFR3, FGFR2
16cell-cell signalingGO:00072679.2FGFR2, FGFR3
17neurotrophin TRK receptor signaling pathwayGO:00480119.1FGFR3, FGFR2
18innate immune responseGO:00450879.1FGFR3, FGFR2
19positive regulation of cell proliferationGO:00082849.0FGFR3, FGFR2
20negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FGFR3, FGFR2

Molecular functions related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.1FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.0FGFR3, FGFR2
3fibroblast growth factor bindingGO:00171348.8FGFR3, FGFR2

Products for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

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Sources for Crouzon Syndrome with Acanthosis Nigricans

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet