MCID: CRZ002
MIFTS: 37

Crouzon Syndrome with Acanthosis Nigricans

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

Aliases & Classifications for Crouzon Syndrome with Acanthosis Nigricans

MalaCards integrated aliases for Crouzon Syndrome with Acanthosis Nigricans:

Name: Crouzon Syndrome with Acanthosis Nigricans 54 72 24 25 71 29 13 69
Crouzonodermoskeletal Syndrome 72 25
Can 25 71
Crouzon Syndrome-Acanthosis Nigricans Syndrome 56
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset of acanthosis nigricans in childhood or by puberty


HPO:

32
crouzon syndrome with acanthosis nigricans:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Crouzon Syndrome with Acanthosis Nigricans

UniProtKB/Swiss-Prot : 71 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 crouzonodermoskeletal syndrome, is related to lupus erythematosus and vaginitis, and has symptoms including visual impairment, optic atrophy and strabismus. 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 (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different. (612247)

Wikipedia : 72 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 130)
id Related Disease Score Top Affiliating Genes
1 lupus erythematosus 10.7
2 vaginitis 10.7
3 rickets 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 chagas disease 10.7
10 leukemia 10.6
11 arteriovenous malformation 10.6
12 hydrocephalus 10.6
13 tuberculosis 10.6
14 traumatic brain injury 10.6
15 myasthenia gravis 10.6
16 aneurysm 10.6
17 trigeminal neuralgia 10.6
18 tremor 10.6
19 listeriosis 10.6
20 atherosclerosis 10.6
21 tuberous sclerosis 10.6
22 endotheliitis 10.6
23 spinal cord injury 10.6
24 hiv-1 10.6
25 creutzfeldt-jakob disease 10.6
26 swallowing disorders 10.6
27 psoriasis 10.6
28 genital herpes 10.6
29 bell's palsy 10.6
30 vascular disease 10.6
31 herpes zoster 10.6
32 head injury 10.6
33 crohn's disease 10.6
34 lung cancer 10.6
35 fibromuscular dysplasia 10.6
36 phenylketonuria 10.6
37 motion sickness 10.6
38 aphasia 10.6
39 arachnoiditis 10.6
40 cytomegalovirus infection 10.6
41 epilepsy 10.6
42 cystic fibrosis 10.5
43 osteoarthritis 10.5
44 alzheimer disease 10.5
45 chickenpox 10.5
46 tonsillitis 10.5
47 cryptosporidiosis 10.5
48 vasculitis 10.5
49 allergic rhinitis 10.5
50 diphtheria 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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
hypertelorism
proptosis

Head And Neck- Face:
midface hypoplasia

Head And Neck- Head:
brachycephaly

Skeletal- Skull:
craniosynostosis

Skin Nails & Hair- Skin Histology:
papillomatosis with overlying thin, slightly hyperpigmented epidermis

Head And Neck- Nose:
choanal atresia

Neurologic- Central Nervous System:
hydrocephalus (in some patients)

Skin Nails & Hair- Skin:
hyperpigmentation
acanthosis nigricans (neck, axilla, groin, periorbital region, perioral region)
verrucous hyperplasia
hypopigmentation of surgical scars
melanocytic nevi
more
Genitourinary- Internal Genitalia Female:
ovarian cysts (in some patients)


Clinical features from OMIM:

612247

Human phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
4 migraine 56 32 occasional (7.5%) Occasional (29-5%) HP:0002076
5 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
6 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
7 hydrocephalus 56 32 occasional (7.5%) Frequent (79-30%) HP:0000238
8 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
9 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
10 choanal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0000453
11 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
12 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
13 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
14 acanthosis nigricans 56 32 hallmark (90%) Very frequent (99-80%) HP:0000956
15 malar flattening 56 32 frequent (33%) Frequent (79-30%) HP:0000272
16 turricephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000262
17 arnold-chiari malformation 56 32 frequent (33%) Frequent (79-30%) HP:0002308
18 increased intracranial pressure 56 32 frequent (33%) Frequent (79-30%) HP:0002516
19 convex nasal ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000444
20 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
21 aplasia/hypoplasia of the cerebellum 56 32 frequent (33%) Frequent (79-30%) HP:0007360
22 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
23 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
24 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
25 inflammatory abnormality of the eye 56 32 frequent (33%) Frequent (79-30%) HP:0100533
26 abnormality of the sacrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0005107
27 abnormality of the palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000174
28 brachydactyly 32 frequent (33%) HP:0001156
29 midface retrusion 32 HP:0011800
30 craniosynostosis 32 HP:0001363
31 melanocytic nevus 32 HP:0000995
32 brachydactyly syndrome 56 Frequent (79-30%)

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
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. ( 10670894 )
2000
7
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
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:

71
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

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70 UMLS via Orphanet
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