CAN
MCID: CRZ002
MIFTS: 35

Crouzon Syndrome with Acanthosis Nigricans (CAN) malady

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

Aliases & Classifications for Crouzon Syndrome with Acanthosis Nigricans

Aliases & Descriptions for Crouzon Syndrome with Acanthosis Nigricans:

Name: Crouzon Syndrome with Acanthosis Nigricans 54 71 24 25 66 13 69
Crouzon Syndrome-Acanthosis Nigricans Syndrome 56 29
Crouzonodermoskeletal Syndrome 71 25
Can 25 66
Crouzon-Dermoskeletal Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
crouzon syndrome-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
crouzon syndrome with acanthosis nigricans:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612247
Orphanet 56 ORPHA93262
ICD10 via Orphanet 34 Q75.1
MedGen 40 C2677099

Summaries for Crouzon Syndrome with Acanthosis Nigricans

UniProtKB/Swiss-Prot : 66 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 rickets, and has symptoms including malar flattening, hypertelorism 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 Crouzon syndrome with acanthosis nigricans 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 : 54 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

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

(show top 50) (show all 120)
id Related Disease Score Top Affiliating Genes
1 vaginitis 10.7
2 rickets 10.7
3 lupus erythematosus 10.7
4 diarrhea 10.7
5 breast cancer 10.7
6 fatty liver disease 10.7
7 meningitis 10.7
8 hepatitis 10.7
9 arteriovenous malformation 10.7
10 hydrocephalus 10.7
11 leukemia 10.7
12 tuberculosis 10.7
13 myasthenia gravis 10.6
14 cystic fibrosis 10.6
15 aneurysm 10.6
16 trigeminal neuralgia 10.6
17 traumatic brain injury 10.6
18 tremor 10.6
19 tuberous sclerosis 10.6
20 atherosclerosis 10.6
21 chagas disease 10.6
22 endotheliitis 10.6
23 spinal cord injury 10.6
24 head injury 10.6
25 arachnoiditis 10.6
26 creutzfeldt-jakob disease 10.6
27 bell's palsy 10.6
28 genital herpes 10.6
29 hiv-1 10.6
30 psoriasis 10.6
31 herpes zoster 10.6
32 vascular disease 10.6
33 fibromuscular dysplasia 10.6
34 phenylketonuria 10.6
35 crohn's disease 10.6
36 motion sickness 10.6
37 lung cancer 10.6
38 swallowing disorders 10.6
39 epilepsy 10.6
40 osteoarthritis 10.6
41 cryptosporidiosis 10.6
42 chickenpox 10.6
43 tonsillitis 10.6
44 allergic rhinitis 10.6
45 cholera 10.6
46 charcot-marie-tooth disease 10.6
47 nemaline myopathy 10.6
48 vasculitis 10.5
49 hepatitis b 10.5
50 herpes simplex 10.5

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

Symptoms by clinical synopsis from OMIM:

612247

Clinical features from OMIM:

612247

Human phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Frequent (79-30%) HP:0000272
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
4 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
5 ptosis 56 32 Frequent (79-30%) HP:0000508
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 increased intracranial pressure 56 32 Frequent (79-30%) HP:0002516
8 visual impairment 56 32 Occasional (29-5%) HP:0000505
9 optic atrophy 56 32 Occasional (29-5%) HP:0000648
10 brachycephaly 56 32 Frequent (79-30%) HP:0000248
11 acanthosis nigricans 56 32 Very frequent (99-80%) HP:0000956
12 strabismus 56 32 Frequent (79-30%) HP:0000486
13 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
14 migraine 56 32 Occasional (29-5%) HP:0002076
15 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
16 abnormality of the metacarpal bones 56 32 Frequent (79-30%) HP:0001163
17 arnold-chiari malformation 56 32 Frequent (79-30%) HP:0002308
18 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
19 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
20 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
21 turricephaly 56 32 Frequent (79-30%) HP:0000262
22 choanal atresia 56 32 Frequent (79-30%) HP:0000453
23 high forehead 56 32 Very frequent (99-80%) HP:0000348
24 convex nasal ridge 56 32 Occasional (29-5%) HP:0000444
25 proptosis 56 32 Frequent (79-30%) HP:0000520
26 inflammatory abnormality of the eye 56 32 Frequent (79-30%) HP:0100533
27 abnormality of the sacrum 56 32 Occasional (29-5%) HP:0005107
28 abnormality of the palate 56 32 Occasional (29-5%) HP:0000174
29 melanocytic nevus 32 HP:0000995
30 midface retrusion 32 HP:0011800
31 craniosynostosis 32 HP:0001363

Drugs & Therapeutics for Crouzon Syndrome with Acanthosis Nigricans

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

Genetic Tests for Crouzon Syndrome with Acanthosis Nigricans

Genetic tests related to Crouzon Syndrome with Acanthosis Nigricans:

id Genetic test Affiliating Genes
1 Crouzon Syndrome with Acanthosis Nigricans 29 24 FGFR3

Anatomical Context for Crouzon Syndrome with Acanthosis Nigricans

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

39
Skin, Bone, Eye, Cerebellum

Publications for Crouzon Syndrome with Acanthosis Nigricans

Articles related to Crouzon Syndrome with Acanthosis Nigricans:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Ala391Glu VAR_004156 rs28931615

ClinVar genetic disease variations for Crouzon Syndrome with Acanthosis Nigricans:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931615 GRCh37 Chromosome 4, 1806153: 1806153

Expression for Crouzon Syndrome with Acanthosis Nigricans

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

Pathways for Crouzon Syndrome with Acanthosis Nigricans

GO Terms for Crouzon Syndrome with Acanthosis Nigricans

Sources for Crouzon Syndrome with Acanthosis Nigricans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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