MCID: CRZ002
MIFTS: 36

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 57 25 75 29 13 6 73
Crouzonodermoskeletal Syndrome 57 12 76 25
Can 57 12 25 75
Crouzon Syndrome-Acanthosis Nigricans Syndrome 12 59
Crouzon-Dermoskeletal Syndrome 12 59
Crouzon Syndrome, with Acanthosis Nigricans 40

Characteristics:

Orphanet epidemiological data:

59
crouzon syndrome-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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 : 75 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 herpes zoster and breast cancer. An important gene associated with Crouzon Syndrome with Acanthosis Nigricans is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include skin, bone and eye, and related phenotypes are hydrocephalus and brachycephaly

OMIM : 57 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 : 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.

Disease Ontology : 12 An autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has material basis in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.

Wikipedia : 76 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 175)
# Related Disease Score Top Affiliating Genes
1 herpes zoster 10.8
2 breast cancer 10.8
3 lupus erythematosus 10.8
4 vaginitis 10.8
5 fatty liver disease 10.8
6 diarrhea 10.8
7 alzheimer disease 10.8
8 rickets 10.8
9 premature ovarian failure 1 10.8
10 aneurysm 10.8
11 sickle cell disease 10.8
12 meningitis 10.8
13 hepatitis 10.8
14 diabetes mellitus 10.8
15 hemochromatosis, type 1 10.8
16 myocardial infarction 10.7
17 varicose veins 10.7
18 rheumatoid arthritis 10.7
19 chagas disease 10.7
20 arteriovenous malformation 10.7
21 leukemia 10.7
22 respiratory failure 10.7
23 chronic fatigue syndrome 10.7
24 psoriasis 10.7
25 traumatic brain injury 10.7
26 myasthenia gravis 10.7
27 epilepsy 10.7
28 trigeminal neuralgia 10.7
29 chronic kidney failure 10.7
30 osteoarthritis 10.7
31 depression 10.7
32 lung cancer 10.7
33 coronary artery anomaly 10.7
34 tonsillitis 10.7
35 listeriosis 10.7
36 tremor 10.7
37 motion sickness 10.7
38 hydrocephalus 10.7
39 tuberous sclerosis 10.7
40 endotheliitis 10.7
41 aplastic anemia 10.7
42 wegener granulomatosis 10.7
43 bell's palsy 10.7
44 macular degeneration, age-related, 1 10.7
45 gastric cancer 10.7
46 long qt syndrome 10.7
47 crohn's disease 10.7
48 hemophilia 10.7
49 prostate cancer 10.7
50 diabetes mellitus, noninsulin-dependent 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:

57
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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000238
2 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
3 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
4 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
5 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
6 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
7 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
8 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
9 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
10 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
11 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
12 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
13 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
14 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
15 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
16 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
17 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
18 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
19 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
20 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
21 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
22 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
23 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
24 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
25 abnormality of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
26 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
27 inflammatory abnormality of the eye 59 32 frequent (33%) Frequent (79-30%) HP:0100533
28 abnormality of the palate 59 Occasional (29-5%)
29 melanocytic nevus 32 HP:0000995
30 craniosynostosis 32 HP:0001363
31 midface retrusion 32 HP:0011800
32 abnormal palate morphology 32 occasional (7.5%) HP:0000174

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 29 FGFR3

Anatomical Context for Crouzon Syndrome with Acanthosis Nigricans

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

41
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:

75
# 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 rs28931615 GRCh37 Chromosome 4, 1806153: 1806153
2 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 GRCh38 Chromosome 4, 1804426: 1804426
3 FGFR3 NM_000142.4(FGFR3): c.739G> A (p.Glu247Lys) single nucleotide variant Uncertain significance rs565612580 GRCh37 Chromosome 4, 1803470: 1803470
4 FGFR3 NM_000142.4(FGFR3): c.739G> A (p.Glu247Lys) single nucleotide variant Uncertain significance rs565612580 GRCh38 Chromosome 4, 1801743: 1801743

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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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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