MCID: CRZ002
MIFTS: 36

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

About this section

Aliases & Descriptions for Crouzon Syndrome with Acanthosis Nigricans:

Name: Crouzon Syndrome with Acanthosis Nigricans 52 71 24 25 70 12 68
Crouzon Syndrome-Acanthosis Nigricans Syndrome 54 27
Crouzonodermoskeletal Syndrome 71 25
 
Crouzon-Dermoskeletal Syndrome 54
Can 70

Characteristics:

Orphanet epidemiological data:

54
crouzon syndrome-acanthosis nigricans syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

OMIM52 612247
Orphanet54 ORPHA93262
ICD10 via Orphanet31 Q75.1
MedGen37 C2677099

Summaries for Crouzon Syndrome with Acanthosis Nigricans

About this section
UniProtKB/Swiss-Prot:70 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 vaginitis and diarrhea, 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 eye.

Genetics Home Reference:25 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:52 Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome... (612247) more...

Wikipedia:71 Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of... more...

Related Diseases for Crouzon Syndrome with Acanthosis Nigricans

About this section

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



Diseases related to crouzon syndrome with acanthosis nigricans

Symptoms & Phenotypes for Crouzon Syndrome with Acanthosis Nigricans

About this section

Symptoms by clinical synopsis from OMIM:

612247

Clinical features from OMIM:

612247

Human phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

 64 54 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000348
2 acanthosis nigricans64 54 hallmark (90%) Very frequent (99-80%) HP:0000956
3 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
4 hydrocephalus64 54 typical (50%) Frequent (79-30%) HP:0000238
5 malar flattening64 54 typical (50%) Frequent (79-30%) HP:0000272
6 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
7 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
8 choanal atresia64 54 typical (50%) Frequent (79-30%) HP:0000453
9 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
10 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
11 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
12 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
13 abnormality of the metacarpal bones64 54 typical (50%) Frequent (79-30%) HP:0001163
14 arnold-chiari malformation64 54 typical (50%) Frequent (79-30%) HP:0002308
15 increased intracranial pressure64 54 typical (50%) Frequent (79-30%) HP:0002516
16 abnormal form of the vertebral bodies64 54 typical (50%) Frequent (79-30%) HP:0003312
17 aplasia/hypoplasia of the cerebellum64 54 typical (50%) Frequent (79-30%) HP:0007360
18 inflammatory abnormality of the eye64 54 typical (50%) Frequent (79-30%) HP:0100533
19 abnormality of the palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000174
20 convex nasal ridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000444
21 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
22 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
23 migraine64 54 occasional (7.5%) Occasional (29-5%) HP:0002076
24 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
25 abnormality of the sacrum64 54 occasional (7.5%) Occasional (29-5%) HP:0005107
26 brachycephaly64 54 Frequent (79-30%) HP:0000248
27 melanocytic nevus64 HP:0000995
28 craniosynostosis64 HP:0001363
29 midface retrusion64 HP:0011800
30 turricephaly54 Frequent (79-30%)
31 hypoplasia of the maxilla54 Frequent (79-30%)

Drugs & Therapeutics for Crouzon Syndrome with Acanthosis Nigricans

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Crouzon Syndrome with Acanthosis Nigricans

Genetic Tests for Crouzon Syndrome with Acanthosis Nigricans

About this section

Genetic tests related to Crouzon Syndrome with Acanthosis Nigricans:

id Genetic test Affiliating Genes
1 Crouzon Syndrome with Acanthosis Nigricans27 24 FGFR3

Anatomical Context for Crouzon Syndrome with Acanthosis Nigricans

About this section

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

36
Skin, Bone, Eye, Cerebellum

Publications for Crouzon Syndrome with Acanthosis Nigricans

About this section

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

About this section

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

70
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)SNVPathogenicrs28931615GRCh37Chr 4, 1806153: 1806153

Expression for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

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

Pathways for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

About this section

GO Terms for genes affiliated with Crouzon Syndrome with Acanthosis Nigricans

About this section

Sources for Crouzon Syndrome with Acanthosis Nigricans

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet