CAN
MCID: CRZ002
MIFTS: 56

Crouzon Syndrome with Acanthosis Nigricans (CAN)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 74 29 13 6 72
Crouzonodermoskeletal Syndrome 57 12 75 25
Can 57 12 25 74
Crouzon Syndrome-Acanthosis Nigricans Syndrome 12 59 15
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:



External Ids:

Disease Ontology 12 DOID:0111161
OMIM 57 612247
ICD10 via Orphanet 34 Q75.1
UMLS via Orphanet 73 C2677099
Orphanet 59 ORPHA93262
MedGen 42 C2677099
UMLS 72 C2677099

Summaries for Crouzon Syndrome with Acanthosis Nigricans

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. The signs and symptoms of Crouzon syndrome with acanthosis nigricans overlap with those of a similar condition called Crouzon syndrome. Both conditions involve premature fusion of the skull bones, which affects the shape of the head and face. Other common features of both conditions include wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and a flat or sunken appearance of the middle of the face (midface hypoplasia). Less common features that can occur in either disorder include an opening in the roof of the mouth (cleft palate), dental problems, or hearing loss. People with Crouzon syndrome or Crouzon syndrome with acanthosis nigricans usually have normal intelligence. Crouzon syndrome with acanthosis nigricans is distinguished from Crouzon syndrome by several features, including skin abnormalities. Acanthosis nigricans is a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. People with Crouzon syndrome with acanthosis nigricans may also have other skin abnormalities; for example, scars in the thick, dark areas of skin are flat and pale. These scars are usually from surgical procedures that are commonly needed in affected individuals. Additionally, in some people with the condition, one or both nasal passages are narrowed (choanal stenosis) or completely blocked (choanal atresia), which can cause difficulty breathing. A buildup of fluid in the brain (hydrocephalus) can also occur. Nasal passage abnormalities and hydrocephalus are rare in Crouzon syndrome. Less common features of Crouzon syndrome with acanthosis nigricans include subtle changes in the bones of the spine (vertebrae), abnormalities of the finger bones, and noncancerous growths in the jaw called cementomas.

MalaCards based summary : Crouzon Syndrome with Acanthosis Nigricans, also known as crouzonodermoskeletal syndrome, is related to crouzon syndrome and migraine with or without aura 1. An important gene associated with Crouzon Syndrome with Acanthosis Nigricans is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are PEDF Induced Signaling and GPCR Pathway. Affiliated tissues include skin, eye and bone, and related phenotypes are frontal bossing and 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.

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)

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 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 6246)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 12.0
2 migraine with or without aura 1 11.2
3 herpes zoster 11.2
4 systemic lupus erythematosus 11.2
5 stroke, ischemic 11.2
6 alzheimer disease 11.2
7 breast cancer 11.2
8 diabetes mellitus, insulin-dependent 11.2
9 diarrhea 11.2
10 gout 11.2
11 sickle cell disease 11.2
12 influenza 11.2
13 leprosy 3 11.2
14 chagas disease 11.2
15 pulmonary embolism 11.2
16 rheumatoid arthritis 11.2
17 osteoarthritis 11.2
18 rickets 11.1
19 fatty liver disease 11.1
20 respiratory failure 11.1
21 depression 11.1
22 dementia 11.1
23 aneurysm 11.1
24 guillain-barre syndrome 11.1
25 ovarian cancer 11.1
26 dementia, lewy body 11.1
27 hepatitis c 11.1
28 fibromyalgia 11.1
29 granulomatosis with polyangiitis 11.1
30 psoriasis 11.1
31 prostate cancer 11.1
32 crohn's disease 11.1
33 premature ovarian failure 1 11.1
34 behcet syndrome 11.1
35 neuroblastoma 1 11.1
36 diabetes mellitus 11.1
37 alcohol use disorder 11.1
38 vaginitis 11.1
39 myocardial infarction 11.1
40 myasthenia gravis 11.1
41 pre-eclampsia 11.1
42 myeloma, multiple 11.1
43 traumatic brain injury 11.1
44 nephrolithiasis, calcium oxalate 11.1
45 meningitis 11.1
46 vascular disease 11.1
47 lung cancer 11.1
48 hemochromatosis, type 1 11.1
49 atherosclerosis susceptibility 11.1
50 chronic kidney disease 11.1

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

Human phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

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

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

GenomeRNAi Phenotypes related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.8 NFATC1 PPP3CA RCAN1

MGI Mouse Phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 CAMK4 FGFR3 FKBP1A GATA4 GRIA1 NFATC1
2 behavior/neurological MP:0005386 10.26 AKAP5 CAMK4 FGFR3 FKBP1A GRIA1 NFATC2
3 cellular MP:0005384 10.25 CAMK4 FGFR3 FKBP1A GATA4 NFATC1 NFATC2
4 homeostasis/metabolism MP:0005376 10.22 AKAP5 CAMK4 FGFR3 FKBP1A GATA4 GRIA1
5 hematopoietic system MP:0005397 10.17 CAMK4 FGFR3 GATA4 GRIA1 NFATC1 NFATC2
6 embryo MP:0005380 10.1 FKBP1A GATA4 NFATC1 NFATC2 NFATC3 NFATC4
7 endocrine/exocrine gland MP:0005379 10.08 AKAP5 CAMK4 GATA4 NFATC2 NFATC3 NFATC4
8 immune system MP:0005387 10.02 CAMK4 FGFR3 NFATC1 NFATC2 NFATC3 PPP3CA
9 mortality/aging MP:0010768 10 CAMK4 FGFR3 FKBP1A GATA4 NFATC1 NFATC3
10 integument MP:0010771 9.87 CAMK4 FGFR3 FKBP1A GATA4 GRIA1 NFATC1
11 nervous system MP:0003631 9.77 AKAP5 CAMK4 FGFR3 FKBP1A GATA4 GRIA1
12 muscle MP:0005369 9.7 FKBP1A GATA4 NFATC1 NFATC2 NFATC3 NFATC4
13 respiratory system MP:0005388 9.1 FGFR3 FKBP1A GATA4 NFATC1 NFATC2 NFATC3

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, Eye, Bone, Brain, Cerebellum

Publications for Crouzon Syndrome with Acanthosis Nigricans

Articles related to Crouzon Syndrome with Acanthosis Nigricans:

(show all 33)
# Title Authors PMID Year
1
Crouzon with acanthosis nigricans. Further delineation of the syndrome. 38 8 71
17935505 2007
2
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 38 8 71
7493034 1995
3
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 38 8
11426459 2001
4
Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. 38 8
10213050 1999
5
FGFR-Related Craniosynostosis Syndromes 38 71
20301628 1998
6
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 8
8880573 1996
7
Cutaneous findings in craniofacial malformation syndromes. 8
1417028 1992
8
Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon. 8
2650599 1989
9
An unusual association of acanthosis nigricans and Crouzon's disease--a case report. 8
3894462 1985
10
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 38
31016899 2019
11
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. 38
29351036 2018
12
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. 38
29019756 2017
13
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 38
28181399 2017
14
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. 38
28611549 2017
15
Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis. 38
27181494 2016
16
Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer. 38
26244699 2015
17
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 38
25441602 2014
18
[Acanthosis nigricans in children and Crouzon syndrome]. 38
25442473 2014
19
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. 38
24476664 2014
20
Cutaneous features of Crouzon syndrome with acanthosis nigricans. 38
23571469 2013
21
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. 38
23437153 2013
22
Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. 38
23986840 2012
23
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. 38
22038757 2011
24
Crouzon syndrome with acanthosis nigricans: a case-based update. 38
21136065 2011
25
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 38
20199409 2010
26
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 38
19293680 2009
27
Familial acanthosis nigricans due to K650T FGFR3 mutation. 38
17875876 2007
28
Transmembrane helix heterodimerization in lipid bilayers: probing the energetics behind autosomal dominant growth disorders. 38
16500676 2006
29
FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. 38
16384584 2006
30
Crouzonodermoskeletal syndrome. 38
14969379 2004
31
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. 38
10696568 2000
32
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. 38
10670894 2000
33
Mutation detection in FGFR2 craniosynostosis syndromes. 38
9048930 1997

Variations for Crouzon Syndrome with Acanthosis Nigricans

ClinVar genetic disease variations for Crouzon Syndrome with Acanthosis Nigricans:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 4:1806153-1806153 4:1804426-1804426
2 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 4:1803564-1803564 4:1801837-1801837
3 FGFR3 NM_000142.4(FGFR3): c.1620C> G (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 4:1807371-1807371 4:1805644-1805644
4 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 4:1803568-1803568 4:1801841-1801841
5 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 4:1803571-1803571 4:1801844-1801844
6 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 4:1807890-1807890 4:1806163-1806163
7 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 4:1806119-1806119 4:1804392-1804392
8 FGFR3 NM_000142.4(FGFR3): c.739G> A (p.Glu247Lys) single nucleotide variant Uncertain significance rs565612580 4:1803470-1803470 4:1801743-1801743
9 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 4:1808017-1808017 4:1806290-1806290
10 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 4:1808395-1808395 4:1806668-1806668
11 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 4:1801071-1801071 4:1799344-1799344
12 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided 4:1806615-1806615 4:1804888-1804888

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

74
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Ala391Glu VAR_004156 rs28931615

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

Pathways related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 PPP3R1 PPP3CA PPP1R1B NFATC4 NFATC3 NFATC2
2
Show member pathways
13.64 RCAN1 PPP3R1 PPP3CA PPP1R1B NFATC4 NFATC3
3
Show member pathways
13.57 PPP3R1 PPP3CA PPP1R1B NFATC4 NFATC3 NFATC2
4
Show member pathways
13.33 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
5
Show member pathways
13.19 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
6
Show member pathways
13.11 RCAN1 PPP3R1 PPP3CA PPP1R1B NFATC2 FKBP1A
7
Show member pathways
13.07 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
8
Show member pathways
13.01 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
9
Show member pathways
13 PPP3R1 PPP3CA PPP1R1B GRIA1 CAMK4
10
Show member pathways
12.99 RCAN1 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2
11
Show member pathways
12.95 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
12
Show member pathways
12.85 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
13 12.77 PPP3R1 PPP3CA NFATC3 NFATC1 FGFR3
14
Show member pathways
12.66 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
15
Show member pathways
12.65 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
16
Show member pathways
12.63 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
17 12.6 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
18
Show member pathways
12.6 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
19
Show member pathways
12.56 PPP3R1 PPP3CA NFATC4 NFATC2
20
Show member pathways
12.49 PPP3R1 PPP3CA NFATC2 NFATC1
21
Show member pathways
12.48 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
22 12.48 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
23
Show member pathways
12.47 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
24
Show member pathways
12.45 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
25
Show member pathways
12.43 RCAN1 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2
26 12.41 PPP3R1 PPP3CA PPP1R1B GRIA1 CAMK4
27
Show member pathways
12.39 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
28 12.38 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
29
Show member pathways
12.37 PPP3R1 PPP3CA NFATC3 NFATC1 CAMK4
30
Show member pathways
12.35 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
31 12.34 PPP1R1B NFATC1 GRIA1 CAMK4
32 12.3 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2
33
Show member pathways
12.27 NFATC4 NFATC3 NFATC2 NFATC1
34
Show member pathways
12.26 PPP3R1 PPP3CA PPP1R1B GRIA1 CAMK4
35
Show member pathways
12.23 RCAN1 PPP3CA NFATC4 NFATC2 GATA4
36
Show member pathways
12.23 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
37
Show member pathways
12.15 PPP3R1 PPP3CA NFATC2 CAMK4
38 12.15 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
39 12.12 PPP3R1 PPP3CA NFATC2 NFATC1 CAMK4
40 12.07 NFATC4 GRIA1 CAMK4
41
Show member pathways
12.05 PPP3R1 PPP3CA PPP1R1B GRIA1 CAMK4
42
Show member pathways
12.03 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
43 12.01 PPP1R1B CAMK4 AKAP5
44
Show member pathways
11.97 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
45
Show member pathways
11.95 PPP3R1 PPP3CA GRIA1
46
Show member pathways
11.92 PPP3R1 PPP3CA PPP1R1B GRIA1
47
Show member pathways
11.79 RCAN1 NFATC3 NFATC2 NFATC1 FKBP1A AKAP5
48
Show member pathways
11.67 NFATC3 NFATC2 NFATC1
49
Show member pathways
11.67 NFATC4 NFATC3 NFATC2 NFATC1
50 11.66 PPP3CA NFATC3 NFATC1

GO Terms for Crouzon Syndrome with Acanthosis Nigricans

Cellular components related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.62 NFATC4 NFATC3 NFATC2 NFATC1
2 dendritic spine GO:0043197 9.61 PPP3CA GRIA1 AKAP5
3 glutamatergic synapse GO:0098978 9.55 VPS18 PPP3CA PPP1R1B GRIA1 CAMK4
4 dendrite membrane GO:0032590 9.46 GRIA1 AKAP5
5 calcineurin complex GO:0005955 9.26 PPP3R1 PPP3CA
6 postsynapse GO:0098794 9.26 PPP3CA PPP1R1B GRIA1 CAMK4
7 nuclear transcription factor complex GO:0044798 8.92 NFATC4 NFATC3 NFATC2 NFATC1
8 cytoplasm GO:0005737 10.18 RCAN1 PPP6C PPP3R1 PPP3CA PPP1R1B NFATC4
9 cytosol GO:0005829 10.07 PPP6C PPP3R1 PPP3CA PPP1R1B NFATC4 NFATC3

Biological processes related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 NFATC3 NFATC2 NFATC1 GATA4 CAMK4
3 transcription by RNA polymerase II GO:0006366 9.63 NFATC4 NFATC3 NFATC1
4 Fc-epsilon receptor signaling pathway GO:0038095 9.55 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
5 skeletal muscle fiber development GO:0048741 9.51 RCAN1 PPP3CA
6 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.5 PPP3R1 PPP3CA NFATC1
7 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.49 NFATC4 NFATC3
8 negative regulation of dendrite morphogenesis GO:0050774 9.43 PPP3CA NFATC4
9 negative regulation of vascular smooth muscle cell differentiation GO:1905064 9.43 NFATC3 NFATC2 NFATC1
10 negative regulation of chromatin binding GO:0035562 9.4 PPP3CA NFATC4
11 cytokine production GO:0001816 9.26 NFATC4 NFATC3 NFATC2 NFATC1
12 calcineurin-NFAT signaling cascade GO:0033173 9.17 RCAN1 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2

Molecular functions related to Crouzon Syndrome with Acanthosis Nigricans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.85 RCAN1 NFATC4 NFATC3 NFATC2 NFATC1 GATA4
2 chromatin binding GO:0003682 9.76 NFATC4 NFATC3 NFATC2 NFATC1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 NFATC4 NFATC3 NFATC2 NFATC1 GATA4
4 calmodulin binding GO:0005516 9.56 PPP3R1 PPP3CA CAMK4 AKAP5
5 cyclosporin A binding GO:0016018 9.43 PPP3R1 PPP3CA
6 FK506 binding GO:0005528 9.4 NFATC1 FKBP1A
7 transcription factor binding GO:0008134 9.35 NFATC4 NFATC3 NFATC2 NFATC1 GATA4
8 calcium-dependent protein serine/threonine phosphatase activity GO:0004723 8.62 PPP3R1 PPP3CA
9 protein binding GO:0005515 10.03 VPS18 RCAN1 PPP6C PPP3R1 PPP3CA PPP1R1B

Sources for Crouzon Syndrome with Acanthosis Nigricans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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