MCID: CRZ002
MIFTS: 35

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 53 24 71 28 13 69
Crouzonodermoskeletal Syndrome 53 72 24
Can 53 24 71
Crouzon Syndrome-Acanthosis Nigricans Syndrome 55
Crouzon-Dermoskeletal Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
crouzon syndrome-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of acanthosis nigricans in childhood or by puberty


HPO:

31
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 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.

OMIM : 53 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)

Genetics Home Reference : 24 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.

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 168)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 10.8
2 vaginitis 10.8
3 fatty liver disease 10.8
4 diarrhea 10.8
5 rickets 10.8
6 meningitis 10.8
7 breast cancer 10.8
8 diabetes mellitus 10.8
9 hepatitis 10.8
10 varicose veins 10.8
11 myocardial infarction 10.8
12 psoriasis 10.8
13 hemochromatosis, type 1 10.8
14 chagas disease 10.8
15 arteriovenous malformation 10.7
16 herpes zoster 10.7
17 respiratory failure 10.7
18 aneurysm 10.7
19 hydrocephalus 10.7
20 rheumatoid arthritis 10.7
21 mycobacterium tuberculosis 1 10.7
22 leukemia 10.7
23 alzheimer disease 10.7
24 traumatic brain injury 10.7
25 epilepsy 10.7
26 myasthenia gravis 10.7
27 trigeminal neuralgia 10.7
28 osteoarthritis 10.7
29 coronary artery anomaly 10.7
30 tonsillitis 10.7
31 listeriosis 10.7
32 migraine with or without aura 1 10.7
33 tremor 10.7
34 tuberous sclerosis 10.7
35 aplastic anemia 10.7
36 long qt syndrome 10.7
37 macular degeneration, age-related, 1 10.7
38 spinal cord injury 10.7
39 lung cancer 10.7
40 endotheliitis 10.7
41 wegener granulomatosis 10.7
42 swallowing disorders 10.7
43 creutzfeldt-jakob disease 10.7
44 polycythemia vera 10.7
45 gastric cancer 10.7
46 fetal alcohol spectrum disorder 10.7
47 bell's palsy 10.7
48 genital herpes 10.7
49 dermatitis 10.7
50 vasculitis 10.7

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:

53
Head And Neck Eyes:
hypertelorism
proptosis

Head And Neck Nose:
choanal atresia

Head And Neck Face:
midface hypoplasia

Neurologic Central Nervous System:
hydrocephalus (in some patients)

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

Head And Neck Head:
brachycephaly

Skeletal Skull:
craniosynostosis

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:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 hydrocephalus 55 31 occasional (7.5%) Frequent (79-30%) HP:0000238
5 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
6 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
7 increased intracranial pressure 55 31 frequent (33%) Frequent (79-30%) HP:0002516
8 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
9 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
10 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
11 acanthosis nigricans 55 31 hallmark (90%) Very frequent (99-80%) HP:0000956
12 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
13 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
14 migraine 55 31 occasional (7.5%) Occasional (29-5%) HP:0002076
15 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
16 abnormality of the metacarpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001163
17 arnold-chiari malformation 55 31 frequent (33%) Frequent (79-30%) HP:0002308
18 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
19 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
20 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
21 turricephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000262
22 choanal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0000453
23 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
24 convex nasal ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000444
25 abnormality of the palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000174
26 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
27 inflammatory abnormality of the eye 55 31 frequent (33%) Frequent (79-30%) HP:0100533
28 abnormality of the sacrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0005107
29 melanocytic nevus 31 HP:0000995
30 midface retrusion 31 HP:0011800
31 craniosynostosis 31 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:

# Genetic test Affiliating Genes
1 Crouzon Syndrome with Acanthosis Nigricans 28 FGFR3

Anatomical Context for Crouzon Syndrome with Acanthosis Nigricans

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

38
Skin, Bone, Eye, Cerebellum

Publications for Crouzon Syndrome with Acanthosis Nigricans

Articles related to Crouzon Syndrome with Acanthosis Nigricans:

# 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:

71
# 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
# 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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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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