MCID: CRZ002
MIFTS: 34

Crouzon Syndrome with Acanthosis Nigricans malady

Categories: Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Crouzon Syndrome with Acanthosis Nigricans

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Aliases & Descriptions for Crouzon Syndrome with Acanthosis Nigricans:

Name: Crouzon Syndrome with Acanthosis Nigricans 49 11 68 22 23 67 65
Crouzon Syndrome-Acanthosis Nigricans Syndrome 51 24
Crouzonodermoskeletal Syndrome 68 23
 
Crouzon-Dermoskeletal Syndrome 51
Can 67

Characteristics:

Orphanet epidemiological data:

51
crouzon syndrome-acanthosis nigricans syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

OMIM49 612247
Orphanet51 93262
ICD10 via Orphanet28 Q75.1
MedGen34 C2677099
UMLS65 C2677099

Summaries for Crouzon Syndrome with Acanthosis Nigricans

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UniProtKB/Swiss-Prot:67 Crouzon syndrome with acanthosis nigricans: Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance.

MalaCards based summary: Crouzon Syndrome with Acanthosis Nigricans, also known as crouzon syndrome-acanthosis nigricans syndrome, is related to leukemia and hepatitis, 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). Affiliated tissues include skin, bone and cerebellum.

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.

OMIM:49 Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome... (612247) more...

Wikipedia:68 Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of... more...

Related Diseases for Crouzon Syndrome with Acanthosis Nigricans

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Diseases related to Crouzon Syndrome with Acanthosis Nigricans via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia10.8
2hepatitis10.8
3endotheliitis10.7
4breast cancer10.7
5gastric cancer10.4
6lymphoplasmacytic lymphoma10.4
7lymphoma10.4
8conduct disorder10.4
9aortic aneurysm10.4
10abdominal aortic aneurysm10.4
11aneurysm10.4
12ischemia10.3
13cerebritis10.3

Graphical network of 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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Symptoms by clinical synopsis from OMIM:

612247

Clinical features from OMIM:

612247

Symptoms:

 51 (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 33)
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
26 hydrocephalus rare (5%) HP:0000238
27 brachycephaly HP:0000248
28 hypertelorism HP:0000316
29 choanal atresia HP:0000453
30 proptosis HP:0000520
31 melanocytic nevus HP:0000995
32 craniosynostosis HP:0001363
33 midface retrusion HP:0011800

Drugs & Therapeutics for Crouzon Syndrome with Acanthosis Nigricans

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Interventional clinical trials:

Search ClinicalTrials, 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 FGFR3

Anatomical Context for Crouzon Syndrome with Acanthosis Nigricans

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

33
Skin, Bone, Cerebellum, Eye, Lung, Heart, Endothelial

Animal Models for Crouzon Syndrome with Acanthosis Nigricans or affiliated genes

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Publications for Crouzon Syndrome with Acanthosis Nigricans

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Articles related to Crouzon Syndrome with Acanthosis Nigricans:

idTitleAuthorsYear
1
The function and mechanism of COX-2 in angiogenesis of gastric cancer cells. (21266034)
2011
2
Atopy, IgE and eosinophilic cationic protein concentration, specific IgE positivity, eosinophil count in cutaneous T Cell lymphoma. (20465692)
2010
3
Peripheral neuroblastoma in a young labrador retriever. (12655127)
2003
4
Human papillomavirus infection and TP53 gene mutation in primary cervical carcinoma. (9208900)
1997
5
Activation of nuclear factor-kappa B correlates with MCP-1 expression by human mesangial cells. (8569088)
1995
6
Comparison of lipoperoxidative damage in plasma and platelet with the ratio of thromboxane A2 and prostaglandin I2 in blood stasis syndrome with coronary heart disease]. (8155941)
1993
7
Endothelial cell heme oxygenase and ferritin induction by heme proteins: a possible mechanism limiting shock damage. (1308986)
1992
8
Studies on eosinophilic meningitis. 2. Experimental infection of shrimp and crabs with Angiostrongylus cantonensis. (5944728)
1966

Variations for Crouzon Syndrome with Acanthosis Nigricans

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

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Ala391GluVAR_004156rs28931615

Clinvar genetic disease variations for Crouzon Syndrome with Acanthosis Nigricans:

5
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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GO Terms for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

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Sources for Crouzon Syndrome with Acanthosis Nigricans

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet