MCID: CRZ002
MIFTS: 43

Crouzon Syndrome with Acanthosis Nigricans malady

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

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 65 67
Crouzon Syndrome - Acanthosis Nigricans 51 24
Crouzonodermoskeletal Syndrome 68 23
 
Crouzon-Dermoskeletal Syndrome 51
Can 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 612247
Orphanet51 93262
ICD10 via Orphanet28 Q75.1
MedGen34 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, 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). 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 top 50)    (show all 4084)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome10.9
2acanthosis nigricans10.9
3breast cancer10.6
4achondroplasia10.6
5leukemia10.6
6hepatitis10.5
7adenocarcinoma10.5
8prostatitis10.5
9endotheliitis10.5
10craniosynostosis10.5
11skeletal dysplasias10.5
12skeletal dysplasia10.5
13pancreatitis10.5
14lung cancer10.5
15neuronitis10.4
16prostate cancer10.4
17colorectal cancer10.4
18arthritis10.4
19thyroiditis10.4
20melanoma10.4
21hiv-110.4
22hepatocellular carcinoma10.4
23pancreatic cancer10.4
24breast disease10.4
25skin benign neoplasm10.4
26li-fraumeni syndrome10.3
27gastrointestinal system cancer10.3
28neuropathy10.3
29rheumatoid arthritis10.3
30dementia10.3
31obesity10.3
32hepatitis c10.3
33myeloma10.3
34pneumonia10.3
35renal cell carcinoma10.3
36cervicitis10.3
37tuberculosis10.3
38cardiomyopathy10.3
39esophagitis10.3
40female breast carcinoma10.3
41congenital heart disease10.3
42atherosclerosis10.3
43meningitis10.3
44oral cancer10.3
45asthma10.3
46small cell carcinoma10.3
47ischemia10.3
48cystic fibrosis10.3
49malaria10.2
50cerebritis10.2

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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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 hypoplasia of midface 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 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
Skin, Bone, Cerebellum, Eye, Lung

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
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:

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