CAN
MCID: CRZ002
MIFTS: 58

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 56 25 73 29 13 6 71
Crouzonodermoskeletal Syndrome 56 12 74 25
Can 56 12 25 73
Crouzon Syndrome-Acanthosis Nigricans Syndrome 12 58 15
Crouzon-Dermoskeletal Syndrome 12 58
Crouzon Syndrome, with Acanthosis Nigricans 39

Characteristics:

Orphanet epidemiological data:

58
crouzon syndrome-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
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:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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 malignant hyperthermia and huntington disease. An important gene associated with Crouzon Syndrome with Acanthosis Nigricans is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are GPCR Pathway and PEDF Induced Signaling. Affiliated tissues include bone, brain and skin, and related phenotypes are frontal bossing and acanthosis nigricans

Disease Ontology : 12 A syndrome 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 : 56 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 : 73 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 : 74 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 6206)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 31.3 ITPR3 ITPR1 FKBP1A CACNA1C
2 huntington disease 31.1 PPP1R1B ITPR3 ITPR1 DLG4 CREB1
3 bipolar disorder 30.8 PPP1R1B GRIA1 DLG4 CREB1 CACNA1C
4 toxic encephalopathy 30.7 GRIA1 DLG4 CREB1
5 alzheimer disease 30.7 RCAN1 PTPA PPP3R1 PPP3CA ITPR3 ITPR1
6 mental depression 30.4 GRIA1 CREB1 CACNA1C
7 pervasive developmental disorder 29.3 GRIA1 DLG4 CREB1 CACNA1C
8 crouzon syndrome 12.0
9 migraine with or without aura 1 11.2
10 herpes zoster 11.2
11 systemic lupus erythematosus 11.2
12 rickets 11.2
13 breast cancer 11.2
14 diabetes mellitus, insulin-dependent 11.2
15 stroke, ischemic 11.2
16 diarrhea 11.2
17 gout 11.2
18 alcohol use disorder 11.2
19 sickle cell disease 11.2
20 chagas disease 11.2
21 influenza 11.2
22 leprosy 3 11.2
23 pulmonary embolism 11.2
24 rheumatoid arthritis 11.2
25 osteoarthritis 11.2
26 lyme disease 11.2
27 fatty liver disease 11.1
28 depression 11.1
29 respiratory failure 11.1
30 dementia 11.1
31 eating disorder 11.1
32 hepatitis c 11.1
33 aneurysm 11.1
34 guillain-barre syndrome 11.1
35 premature ovarian failure 1 11.1
36 ovarian cancer 11.1
37 dementia, lewy body 11.1
38 granulomatosis with polyangiitis 11.1
39 fibromyalgia 11.1
40 psoriasis 11.1
41 prostate cancer 11.1
42 crohn's disease 11.1
43 diabetes mellitus 11.1
44 behcet syndrome 11.1
45 myocardial infarction 11.1
46 vaginitis 11.1
47 pre-eclampsia 11.1
48 myasthenia gravis 11.1
49 myeloma, multiple 11.1
50 traumatic brain injury 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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 acanthosis nigricans 58 31 hallmark (90%) Very frequent (99-80%) HP:0000956
3 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
4 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
7 hydrocephalus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000238
8 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
9 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
10 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
11 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
12 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
13 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
14 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
15 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
16 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
17 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
18 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
19 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
20 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
21 inflammatory abnormality of the eye 58 31 frequent (33%) Frequent (79-30%) HP:0100533
22 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
23 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
24 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
25 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
26 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
27 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
28 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
29 craniosynostosis 31 HP:0001363
30 midface retrusion 31 HP:0011800
31 melanocytic nevus 31 HP:0000995

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
proptosis

Head And Neck Head:
brachycephaly

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

Skeletal Skull:
craniosynostosis

Head And Neck Nose:
choanal atresia

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 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.35 FGFR3 PPP1R1B PPP3CA PPP3R1 PTPA
2 Decreased telomerase activity GR00156-A 8.8 DLG4 FGFR3 PPP1R1B

MGI Mouse Phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 AKAP5 CACNA1C CREB1 DLG4 FGFR3 FKBP1A
2 homeostasis/metabolism MP:0005376 10.22 AKAP5 CACNA1C CREB1 DLG4 FGFR3 FKBP1A
3 growth/size/body region MP:0005378 10.21 CREB1 DLG4 FGFR3 FKBP1A GRIA1 ITPR1
4 cellular MP:0005384 10.2 CACNA1C CREB1 FGFR3 FKBP1A ITPR1 NFATC1
5 endocrine/exocrine gland MP:0005379 10.14 AKAP5 CACNA1C CREB1 DLG4 ITPR1 ITPR3
6 embryo MP:0005380 10.13 CACNA1C CREB1 FKBP1A ITPR1 NFATC1 NFATC2
7 mortality/aging MP:0010768 10 CACNA1C CREB1 DLG4 FGFR3 FKBP1A ITPR1
8 integument MP:0010771 9.86 CACNA1C DLG4 FGFR3 FKBP1A GRIA1 ITPR3
9 muscle MP:0005369 9.65 CACNA1C CREB1 FKBP1A ITPR1 ITPR3 NFATC1
10 nervous system MP:0003631 9.53 AKAP5 CACNA1C CREB1 DLG4 FGFR3 FKBP1A

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:

40
Bone, Brain, Skin, Heart, Thyroid, Eye, T Cells

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. 61 56 6
17935505 2007
2
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 61 56 6
7493034 1995
3
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 61 56
11426459 2001
4
Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. 61 56
10213050 1999
5
FGFR-Related Craniosynostosis Syndromes 61 6
20301628 1998
6
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 56
8880573 1996
7
Cutaneous findings in craniofacial malformation syndromes. 56
1417028 1992
8
Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon. 56
2650599 1989
9
An unusual association of acanthosis nigricans and Crouzon's disease--a case report. 56
3894462 1985
10
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 61
31016899 2019
11
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. 61
29351036 2018
12
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. 61
29019756 2017
13
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 61
28181399 2017
14
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. 61
28611549 2017
15
Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis. 61
27181494 2016
16
Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer. 61
26244699 2015
17
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 61
25441602 2014
18
[Acanthosis nigricans in children and Crouzon syndrome]. 61
25442473 2014
19
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. 61
24476664 2014
20
Cutaneous features of Crouzon syndrome with acanthosis nigricans. 61
23571469 2013
21
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. 61
23437153 2013
22
Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. 61
23986840 2012
23
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. 61
22038757 2011
24
Crouzon syndrome with acanthosis nigricans: a case-based update. 61
21136065 2011
25
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 61
20199409 2010
26
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 61
19293680 2009
27
Familial acanthosis nigricans due to K650T FGFR3 mutation. 61
17875876 2007
28
Transmembrane helix heterodimerization in lipid bilayers: probing the energetics behind autosomal dominant growth disorders. 61
16500676 2006
29
FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. 61
16384584 2006
30
Crouzonodermoskeletal syndrome. 61
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. 61
10696568 2000
32
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. 61
10670894 2000
33
Mutation detection in FGFR2 craniosynostosis syndromes. 61
9048930 1997

Variations for Crouzon Syndrome with Acanthosis Nigricans

ClinVar genetic disease variations for Crouzon Syndrome with Acanthosis Nigricans:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu)SNV Pathogenic 16329 rs28931615 4:1806153-1806153 4:1804426-1804426
2 FGFR3 NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
3 FGFR3 NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
4 FGFR3 NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
5 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
6 FGFR3 NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu)SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
7 FGFR3 NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
8 FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg)SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
9 FGFR3 NM_000142.4(FGFR3):c.739G>A (p.Glu247Lys)SNV Uncertain significance 374825 rs565612580 4:1803470-1803470 4:1801743-1801743
10 FGFR3 NM_000142.4(FGFR3):c.1993G>T (p.Ala665Ser)SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290
11 FGFR3 NM_000142.4(FGFR3):c.2153A>G (p.Asn718Ser)SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668
12 FGFR3 NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp)SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344
13 FGFR3 NM_000142.4(FGFR3):c.1331C>T (p.Ser444Phe)SNV not provided 585087 rs761325047 4:1806615-1806615 4:1804888-1804888

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

73
# 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 79)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 RCAN1 PTPA PPP3R1 PPP3CA PPP1R1B NFATC4
2
Show member pathways
13.77 PTPA PPP3R1 PPP3CA PPP1R1B NFATC4 NFATC3
3
Show member pathways
13.65 PPP3R1 PPP3CA PPP1R1B NFATC4 NFATC3 NFATC2
4
Show member pathways
13.45 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
5
Show member pathways
13.32 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
6
Show member pathways
13.21 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
7
Show member pathways
13.14 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
8
Show member pathways
13.12 RCAN1 PPP3R1 PPP3CA PPP1R1B NFATC2 ITPR3
9
Show member pathways
13.1 PTPA PPP1R1B ITPR3 ITPR1 FKBP1A FGFR3
10
Show member pathways
13.08 RCAN1 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2
11
Show member pathways
13.07 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
12
Show member pathways
13 PPP3R1 PPP3CA NFATC2 ITPR3 ITPR1 CACNA1C
13
Show member pathways
12.94 PPP3R1 PPP3CA PPP1R1B ITPR3 ITPR1 GRIA1
14
Show member pathways
12.91 PPP3R1 PPP3CA NFATC1 ITPR3 ITPR1
15 12.85 PPP3R1 PPP3CA NFATC3 NFATC1 FGFR3 CACNA1C
16
Show member pathways
12.83 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
17
Show member pathways
12.76 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1 ITPR3
18
Show member pathways
12.74 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1 ITPR1
19
Show member pathways
12.7 PPP3R1 PPP3CA NFATC4 NFATC2 ITPR3 ITPR1
20
Show member pathways
12.66 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
21 12.66 PPP1R1B ITPR1 GRIA1 DLG4 CREB1
22
Show member pathways
12.65 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
23
Show member pathways
12.64 PTPA PPP3R1 PPP3CA ITPR3 ITPR1
24 12.63 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
25
Show member pathways
12.63 PPP3R1 PPP3CA NFATC2 NFATC1 ITPR3 ITPR1
26
Show member pathways
12.61 ITPR3 ITPR1 FKBP1A CREB1 CACNA1C
27
Show member pathways
12.6 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1 ITPR3
28 12.59 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
29
Show member pathways
12.56 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
30
Show member pathways
12.55 PPP3CA ITPR1 CREB1 CACNA1C
31
Show member pathways
12.54 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1 CREB1
32
Show member pathways
12.52 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
33
Show member pathways
12.51 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
34 12.51 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
35
Show member pathways
12.49 PPP3CA NFATC1 ITPR3 ITPR1 CREB1
36 12.43 PPP1R1B NFATC1 GRIA1 CREB1 CACNA1C
37
Show member pathways
12.43 PPP3R1 PPP3CA NFATC3 NFATC1 CREB1
38
Show member pathways
12.41 ITPR3 ITPR1 CACNA1C AKAP5
39 12.41 PTPA PPP3R1 PPP3CA PPP1R1B ITPR3 ITPR1
40
Show member pathways
12.4 PPP3R1 PPP3CA ITPR3 ITPR1
41
Show member pathways
12.39 PPP3R1 PPP3CA ITPR3 ITPR1 CACNA1C
42 12.35 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2
43
Show member pathways
12.35 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
44
Show member pathways
12.32 PPP3R1 PPP3CA PPP1R1B ITPR3 ITPR1 GRIA1
45
Show member pathways
12.31 RCAN1 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2
46 12.26 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
47
Show member pathways
12.23 RCAN1 PPP3CA NFATC4 NFATC2
48
Show member pathways
12.18 PPP3R1 PPP3CA PPP1R1B GRIA1 DLG4 CREB1
49 12.17 PPP3R1 PPP3CA NFATC2 NFATC1 CREB1
50
Show member pathways
12.17 RCAN1 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2

GO Terms for Crouzon Syndrome with Acanthosis Nigricans

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.06 RCAN1 PTPA PPP6C PPP3R1 PPP3CA PPP1R1B
2 postsynaptic density GO:0014069 9.8 ITPR1 GRIA1 DLG4 CACNA1C AKAP5
3 dendritic spine GO:0043197 9.73 PPP3CA GRIA1 DLG4 AKAP5
4 sarcolemma GO:0042383 9.7 PPP3R1 PPP3CA CACNA1C
5 transcription factor complex GO:0005667 9.65 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
6 sarcoplasmic reticulum GO:0016529 9.63 ITPR3 ITPR1 FKBP1A
7 postsynapse GO:0098794 9.62 PPP3CA PPP1R1B GRIA1 DLG4
8 excitatory synapse GO:0060076 9.54 GRIA1 DLG4 AKAP5
9 ionotropic glutamate receptor complex GO:0008328 9.51 GRIA1 DLG4
10 neuron spine GO:0044309 9.49 GRIA1 DLG4
11 platelet dense tubular network membrane GO:0031095 9.48 ITPR3 ITPR1
12 calcineurin complex GO:0005955 9.13 PPP3R1 PPP3CA ITPR1
13 nuclear transcription factor complex GO:0044798 8.92 NFATC4 NFATC3 NFATC2 NFATC1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10 PPP3R1 PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
2 transcription by RNA polymerase II GO:0006366 9.89 NFATC4 NFATC3 NFATC1 CREB1
3 memory GO:0007613 9.74 PPP1R1B ITPR3 CREB1
4 calcium ion transport GO:0006816 9.71 PPP3CA ITPR3 ITPR1 CACNA1C
5 calcium ion transmembrane transport GO:0070588 9.67 ITPR3 ITPR1 FKBP1A CACNA1C
6 regulation of insulin secretion GO:0050796 9.65 ITPR3 ITPR1 CACNA1C
7 Fc-epsilon receptor signaling pathway GO:0038095 9.65 PPP3R1 PPP3CA NFATC3 NFATC2 NFATC1
8 negative regulation of phosphoprotein phosphatase activity GO:0032515 9.61 PTPA PPP1R1B FKBP1A
9 calcium ion transport into cytosol GO:0060402 9.58 ITPR3 CACNA1C
10 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.58 NFATC4 NFATC3
11 inositol phosphate-mediated signaling GO:0048016 9.56 ITPR3 ITPR1
12 regulation of protein kinase A signaling GO:0010738 9.55 AKAP5 AKAP1
13 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.54 ITPR1 GRIA1
14 negative regulation of dendrite morphogenesis GO:0050774 9.52 PPP3CA NFATC4
15 positive regulation of adenylate cyclase activity GO:0045762 9.51 CACNA1C AKAP5
16 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.5 PPP3R1 PPP3CA NFATC1
17 negative regulation of chromatin binding GO:0035562 9.49 PPP3CA NFATC4
18 negative regulation of vascular smooth muscle cell differentiation GO:1905064 9.33 NFATC3 NFATC2 NFATC1
19 cytokine production GO:0001816 9.26 NFATC4 NFATC3 NFATC2 NFATC1
20 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:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 10.02 RCAN1 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.88 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
3 transcription factor binding GO:0008134 9.77 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
4 calmodulin binding GO:0005516 9.71 PPP3R1 PPP3CA CACNA1C AKAP5
5 calcium channel activity GO:0005262 9.7 ITPR3 ITPR1 CACNA1C
6 ion channel activity GO:0005216 9.62 ITPR3 ITPR1 GRIA1 CACNA1C
7 protein binding GO:0005515 9.62 RCAN1 PTPA PPP6C PPP3R1 PPP3CA PPP1R1B
8 calcium-release channel activity GO:0015278 9.54 ITPR3 ITPR1
9 inositol 1,4,5 trisphosphate binding GO:0070679 9.51 ITPR3 ITPR1
10 calcium channel inhibitor activity GO:0019855 9.49 ITPR1 FKBP1A
11 D1 dopamine receptor binding GO:0031748 9.46 PPP1R1B DLG4
12 FK506 binding GO:0005528 9.43 NFATC1 FKBP1A
13 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0005220 9.26 ITPR3 ITPR1
14 calcium-dependent protein serine/threonine phosphatase activity GO:0004723 9.16 PPP3R1 PPP3CA
15 RNA polymerase II transcription coactivator binding GO:0001225 8.96 NFATC1 CREB1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....