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 57 43 72 29 13 6 70
Crouzonodermoskeletal Syndrome 57 12 73 43
Can 57 12 43 72
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®:

57 (Updated 20-May-2021)
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

MedlinePlus Genetics : 43 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 huntington disease and malignant hyperthermia. 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, brain and heart, and related phenotypes are frontal bossing and high forehead

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® : 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 6439)
# Related Disease Score Top Affiliating Genes
1 huntington disease 31.3 PPP1R1B ITPR1 GRIA1 FGFR3 CREB1
2 malignant hyperthermia 31.2 ITPR3 ITPR1 FKBP1A
3 alzheimer disease 31.1 RCAN1 PTPA PPP3R1 PPP3CA ITPR3 ITPR1
4 retrograde amnesia 31.0 GRIA1 CREB1
5 disease of mental health 30.8 RCAN1 PTPA PPP3CA PPP1R1B ITPR3 ITPR1
6 leukostasis 29.4 NFATC4 NFATC3 NFATC2 NFATC1
7 crouzon syndrome 11.5
8 pneumonia 11.1
9 migraine with or without aura 1 11.1
10 herpes zoster 11.1
11 human immunodeficiency virus type 1 11.1
12 crohn's disease 11.1
13 bipolar disorder 11.1
14 traumatic brain injury 11.1
15 stroke, ischemic 11.1
16 type 1 diabetes mellitus 11.0
17 influenza 11.0
18 rheumatoid arthritis 11.0
19 pulmonary disease, chronic obstructive 11.0
20 dementia 11.0
21 lupus erythematosus 11.0
22 gout 11.0
23 sickle cell disease 11.0
24 chagas disease 11.0
25 pulmonary embolism 11.0
26 anxiety 11.0
27 respiratory failure 11.0
28 leprosy 3 11.0
29 hepatitis b 11.0
30 fatty liver disease 11.0
31 hepatitis c 11.0
32 cerebral palsy 11.0
33 breast cancer 11.0
34 hepatitis 11.0
35 diarrhea 11.0
36 osteoarthritis 11.0
37 rickets 11.0
38 lyme disease 11.0
39 eating disorder 11.0
40 alcohol use disorder 11.0
41 disease by infectious agent 11.0
42 lung cancer 11.0
43 hyperthyroidism 11.0
44 guillain-barre syndrome 11.0
45 premature menopause 11.0
46 depression 11.0
47 psoriasis 11.0
48 granulomatosis with polyangiitis 11.0
49 prostate cancer 11.0
50 dementia, lewy body 11.0

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 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
3 acanthosis nigricans 58 31 hallmark (90%) Very frequent (99-80%) HP:0000956
4 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
5 hydrocephalus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000238
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
8 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
9 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
12 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
13 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
14 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
15 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
16 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
17 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
18 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
19 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
20 inflammatory abnormality of the eye 58 31 frequent (33%) Frequent (79-30%) HP:0100533
21 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
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 sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
28 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
29 melanocytic nevus 31 HP:0000995
30 craniosynostosis 31 HP:0001363
31 midface retrusion 31 HP:0011800

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00154-A 9.86 NFATC1
2 Decreased viability GR00173-A 9.86 PPP6C
3 Decreased viability GR00221-A-1 9.86 AKAP5 FGFR3
4 Decreased viability GR00221-A-2 9.86 AKAP5 FGFR3
5 Decreased viability GR00221-A-3 9.86 FGFR3
6 Decreased viability GR00249-S 9.86 FGFR3 ITPR1 PPP1R1B
7 Decreased viability GR00342-S-1 9.86 AKAP1
8 Decreased viability GR00342-S-2 9.86 AKAP1
9 Decreased viability GR00342-S-3 9.86 AKAP1
10 Decreased viability GR00381-A-1 9.86 PPP3R1
11 Decreased viability GR00386-A-1 9.86 PTPA
12 Decreased viability GR00402-S-2 9.86 NFATC4
13 Synthetic lethal with imatinib mesylate GR00181-A 8.92 NFATC1 PPP3CA PPP3CB RCAN1

MGI Mouse Phenotypes related to Crouzon Syndrome with Acanthosis Nigricans:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 AKAP5 CREB1 FGFR3 FKBP1A GRIA1 ITPR1
2 growth/size/body region MP:0005378 10.25 CREB1 FGFR3 FKBP1A GRIA1 ITPR1 ITPR3
3 cellular MP:0005384 10.22 CREB1 FGFR3 FKBP1A ITPR1 NFATC1 NFATC2
4 homeostasis/metabolism MP:0005376 10.22 AKAP5 CREB1 FGFR3 FKBP1A GRIA1 ITPR1
5 hematopoietic system MP:0005397 10.15 CABIN1 FGFR3 GRIA1 ITPR1 NFATC1 NFATC2
6 endocrine/exocrine gland MP:0005379 10.13 AKAP5 CREB1 ITPR1 ITPR3 NFATC2 NFATC3
7 embryo MP:0005380 10.11 CREB1 FKBP1A ITPR1 NFATC1 NFATC2 NFATC3
8 immune system MP:0005387 10.03 CABIN1 FGFR3 GRIA1 ITPR1 NFATC1 NFATC2
9 mortality/aging MP:0010768 9.97 CABIN1 CREB1 FGFR3 FKBP1A ITPR1 ITPR3
10 muscle MP:0005369 9.7 CREB1 FKBP1A ITPR1 ITPR3 NFATC1 NFATC2
11 nervous system MP:0003631 9.44 AKAP5 CREB1 FGFR3 FKBP1A GRIA1 ITPR1

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
Skin, Brain, Heart, Eye, Bone, Kidney, Breast

Publications for Crouzon Syndrome with Acanthosis Nigricans

Articles related to Crouzon Syndrome with Acanthosis Nigricans:

(show all 39)
# Title Authors PMID Year
1
Crouzon with acanthosis nigricans. Further delineation of the syndrome. 61 6 57
17935505 2007
2
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 57 6 61
7493034 1995
3
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 61 6
20199409 2010
4
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 61 57
11426459 2001
5
Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. 61 57
10213050 1999
6
The A391E mutation enhances FGFR3 activation in the absence of ligand. 6
21536014 2011
7
Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 6
18976668 2008
8
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 6
16912704 2006
9
Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 6
9857065 1998
10
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 57
8880573 1996
11
Cutaneous findings in craniofacial malformation syndromes. 57
1417028 1992
12
Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon. 57
2650599 1989
13
An unusual association of acanthosis nigricans and Crouzon's disease--a case report. 57
3894462 1985
14
Crouzon Syndrome and Acanthosis Nigricans With Fibrous Dysplasia of the Maxilla: An Unreported Suggested Triad. 61
33156176 2021
15
Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene. 61
32860240 2020
16
Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study. 61
32822871 2020
17
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 61
31016899 2019
18
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. 61
29351036 2018
19
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. 61
29019756 2017
20
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 61
28181399 2017
21
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. 61
28611549 2017
22
Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis. 61
27181494 2016
23
Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer. 61
26244699 2015
24
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 61
25441602 2014
25
[Acanthosis nigricans in children and Crouzon syndrome]. 61
25442473 2014
26
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. 61
24476664 2014
27
Cutaneous features of Crouzon syndrome with acanthosis nigricans. 61
23571469 2013
28
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. 61
23437153 2013
29
Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. 61
23986840 2012
30
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. 61
22038757 2011
31
Crouzon syndrome with acanthosis nigricans: a case-based update. 61
21136065 2011
32
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 61
19293680 2009
33
Familial acanthosis nigricans due to K650T FGFR3 mutation. 61
17875876 2007
34
Transmembrane helix heterodimerization in lipid bilayers: probing the energetics behind autosomal dominant growth disorders. 61
16500676 2006
35
FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. 61
16384584 2006
36
Crouzonodermoskeletal syndrome. 61
14969379 2004
37
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
38
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. 61
10670894 2000
39
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 Position
1 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
2 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
3 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic 16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
4 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
5 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
6 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
7 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
8 FGFR3 NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) SNV Pathogenic 16329 rs28931615 GRCh37: 4:1806153-1806153
GRCh38: 4:1804426-1804426
9 FGFR3 NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) SNV Uncertain significance 374825 rs565612580 GRCh37: 4:1803470-1803470
GRCh38: 4:1801743-1801743
10 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
11 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
12 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
13 FGFR3 NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) SNV not provided 585087 rs761325047 GRCh37: 4:1806615-1806615
GRCh38: 4:1804888-1804888

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

72
# 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 82)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 PTPA PPP3R1 PPP3CB PPP3CA PPP1R1B NFATC4
2
Show member pathways
13.77 RCAN1 PTPA PPP3R1 PPP3CB PPP3CA PPP1R1B
3
Show member pathways
13.68 PPP3R1 PPP3CB PPP3CA PPP1R1B NFATC4 NFATC3
4
Show member pathways
13.49 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
5
Show member pathways
13.48 PPP3R1 PPP3CB PPP3CA ITPR3 ITPR1 GRIA1
6
Show member pathways
13.34 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
7
Show member pathways
13.25 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
8
Show member pathways
13.25 RCAN1 PPP3R1 PPP3CB PPP3CA PPP1R1B NFATC2
9
Show member pathways
13.17 PPP3R1 PPP3CB PPP3CA PPP1R1B ITPR3 ITPR1
10
Show member pathways
13.17 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
11
Show member pathways
13.12 RCAN1 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3
12
Show member pathways
13.11 PPP3R1 PPP3CB PPP3CA NFATC2 ITPR3 ITPR1
13
Show member pathways
13.1 PTPA PPP1R1B ITPR3 ITPR1 FKBP1A FGFR3
14
Show member pathways
12.98 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
15
Show member pathways
12.97 PPP3R1 PPP3CB PPP3CA NFATC1 ITPR3 ITPR1
16
Show member pathways
12.92 PPP3R1 PPP3CB PPP3CA ITPR3 ITPR1 CREB1
17
Show member pathways
12.88 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
18 12.87 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC1 FGFR3
19
Show member pathways
12.87 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
20
Show member pathways
12.86 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
21
Show member pathways
12.84 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
22
Show member pathways
12.81 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC2 NFATC1
23
Show member pathways
12.77 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC2 ITPR3
24
Show member pathways
12.77 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
25 12.75 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2 NFATC1
26
Show member pathways
12.74 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
27
Show member pathways
12.73 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC2 NFATC1
28
Show member pathways
12.71 PTPA PPP3R1 PPP3CB PPP3CA ITPR3 ITPR1
29
Show member pathways
12.7 PPP3R1 PPP3CB PPP3CA NFATC2 NFATC1 ITPR3
30
Show member pathways
12.67 PPP3R1 PPP3CB PPP3CA ITPR3 ITPR1
31 12.65 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
32
Show member pathways
12.65 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC2 NFATC1
33
Show member pathways
12.62 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC2 NFATC1
34
Show member pathways
12.61 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC1 CREB1
35
Show member pathways
12.61 RCAN1 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3
36 12.59 PPP1R1B ITPR1 GRIA1 CREB1
37
Show member pathways
12.56 PPP3CB PPP3CA ITPR1 CREB1
38
Show member pathways
12.56 PPP3CB PPP3CA NFATC1 ITPR3 ITPR1 CREB1
39 12.56 PPP3R1 PPP3CB PPP3CA ITPR3 ITPR1 FGFR3
40 12.56 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
41 12.56 PTPA PPP3R1 PPP3CB PPP3CA PPP1R1B ITPR3
42
Show member pathways
12.55 ITPR3 ITPR1 FKBP1A CREB1
43
Show member pathways
12.48 PPP3R1 PPP3CB PPP3CA ITPR3 ITPR1
44 12.43 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
45 12.42 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
46 12.38 PPP1R1B NFATC1 GRIA1 CREB1
47
Show member pathways
12.34 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
48
Show member pathways
12.32 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
49
Show member pathways
12.31 RCAN1 PPP3CB PPP3CA NFATC4 NFATC2
50 12.3 PPP3R1 PPP3CB PPP3CA CREB1

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 cytosol GO:0005829 10.07 PPP6C PPP3R1 PPP3CB PPP3CA PPP1R1B NFATC4
2 cytoplasm GO:0005737 10.03 RCAN1 PTPA PPP6C PPP3R1 PPP3CB PPP3CA
3 sarcoplasmic reticulum GO:0016529 9.5 ITPR3 ITPR1 FKBP1A
4 platelet dense tubular network membrane GO:0031095 9.37 ITPR3 ITPR1
5 transcription factor complex GO:0005667 9.35 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
6 calcineurin complex GO:0005955 8.92 PPP3R1 PPP3CB PPP3CA ITPR1

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 10.03 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3 NFATC2
2 protein dephosphorylation GO:0006470 9.81 PPP6C PPP3R1 PPP3CB PPP3CA
3 regulation of insulin secretion GO:0050796 9.73 PPP3CB ITPR3 ITPR1
4 memory GO:0007613 9.71 PPP3CB PPP1R1B ITPR3 CREB1
5 regulation of phosphoprotein phosphatase activity GO:0043666 9.67 RCAN1 PTPA PPP3R1
6 negative regulation of phosphoprotein phosphatase activity GO:0032515 9.67 PTPA PPP1R1B FKBP1A CABIN1
7 T cell activation GO:0042110 9.63 PPP3CB PPP3CA FKBP1A
8 Fc-epsilon receptor signaling pathway GO:0038095 9.63 PPP3R1 PPP3CB PPP3CA NFATC3 NFATC2 NFATC1
9 regulation of protein kinase A signaling GO:0010738 9.59 AKAP5 AKAP1
10 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.58 NFATC4 NFATC3
11 inositol phosphate-mediated signaling GO:0048016 9.58 ITPR3 ITPR1
12 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.57 ITPR1 GRIA1
13 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.56 PPP3R1 PPP3CB PPP3CA NFATC1
14 negative regulation of dendrite morphogenesis GO:0050774 9.55 PPP3CA NFATC4
15 negative regulation of chromatin binding GO:0035562 9.54 PPP3CA NFATC4
16 calcineurin-mediated signaling GO:0097720 9.52 PPP3CB PPP3CA
17 negative regulation of vascular smooth muscle cell differentiation GO:1905064 9.5 NFATC3 NFATC2 NFATC1
18 locomotion involved in locomotory behavior GO:0031987 9.48 RCAN1 PPP3CB
19 cytokine production GO:0001816 9.26 NFATC4 NFATC3 NFATC2 NFATC1
20 calcineurin-NFAT signaling cascade GO:0033173 9.23 RCAN1 PPP3R1 PPP3CB PPP3CA NFATC4 NFATC3

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 sequence-specific double-stranded DNA binding GO:1990837 9.93 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
2 calmodulin binding GO:0005516 9.76 PPP3R1 PPP3CB PPP3CA AKAP5
3 protein serine/threonine phosphatase activity GO:0004722 9.72 PPP6C PPP3CB PPP3CA
4 transcription factor binding GO:0008134 9.65 NFATC4 NFATC3 NFATC2 NFATC1 CREB1
5 protein binding GO:0005515 9.62 RCAN1 PTPA PPP6C PPP3R1 PPP3CB PPP3CA
6 inositol 1,4,5 trisphosphate binding GO:0070679 9.52 ITPR3 ITPR1
7 calcium channel inhibitor activity GO:0019855 9.51 ITPR1 FKBP1A
8 calcium-release channel activity GO:0015278 9.49 ITPR3 ITPR1
9 FK506 binding GO:0005528 9.48 NFATC1 FKBP1A
10 protein phosphatase 2B binding GO:0030346 9.43 PPP3CB AKAP5
11 calcium-dependent protein serine/threonine phosphatase regulator activity GO:0008597 9.4 RCAN1 PPP3R1
12 RNA polymerase II transcription coactivator binding GO:0001225 9.37 NFATC1 CREB1
13 calmodulin-dependent protein phosphatase activity GO:0033192 9.32 PPP3CB PPP3CA
14 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0005220 9.16 ITPR3 ITPR1
15 calcium-dependent protein serine/threonine phosphatase activity GO:0004723 8.96 PPP3R1 PPP3CA

Sources for Crouzon Syndrome with Acanthosis Nigricans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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