ACS5
MCID: PFF008
MIFTS: 28

Pfeiffer Syndrome Type 1, 2 and 3 (ACS5) malady

Categories: Genetic diseases, Rare diseases, Infectious diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Pfeiffer Syndrome Type 1, 2 and 3

Aliases & Descriptions for Pfeiffer Syndrome Type 1, 2 and 3:

Name: Pfeiffer Syndrome Type 1, 2 and 3 24
Acrocephalosyndactyly Type V 24
Pfeiffer Syndrome 69
Acs5 24
Ascv 24

Classifications:



Summaries for Pfeiffer Syndrome Type 1, 2 and 3

MalaCards based summary : Pfeiffer Syndrome Type 1, 2 and 3, also known as acrocephalosyndactyly type v, is related to pfeiffer syndrome and pkp1-related ectodermal dysplasia/skin fragility syndrome. An important gene associated with Pfeiffer Syndrome Type 1, 2 and 3 is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are NF-KappaB Family Pathway and Pathways in cancer. The drugs Mitogens and Liver Extracts have been mentioned in the context of this disorder. Related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

Related Diseases for Pfeiffer Syndrome Type 1, 2 and 3

Graphical network of the top 20 diseases related to Pfeiffer Syndrome Type 1, 2 and 3:



Diseases related to Pfeiffer Syndrome Type 1, 2 and 3

Symptoms & Phenotypes for Pfeiffer Syndrome Type 1, 2 and 3

GenomeRNAi Phenotypes related to Pfeiffer Syndrome Type 1, 2 and 3 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 8.96 FGFR1 FGFR2
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.62 FGFR1 FGFR2

Drugs & Therapeutics for Pfeiffer Syndrome Type 1, 2 and 3

Drugs for Pfeiffer Syndrome Type 1, 2 and 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 1, Phase 2
2 Liver Extracts Phase 1, Phase 2
3 tyrosine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Active, not recruiting NCT01752920 Phase 1, Phase 2
2 Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck Cancer Not yet recruiting NCT02706691 Phase 2
3 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308

Search NIH Clinical Center for Pfeiffer Syndrome Type 1, 2 and 3

Genetic Tests for Pfeiffer Syndrome Type 1, 2 and 3

Genetic tests related to Pfeiffer Syndrome Type 1, 2 and 3:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 1, 2 and 3 24 FGFR2

Anatomical Context for Pfeiffer Syndrome Type 1, 2 and 3

Publications for Pfeiffer Syndrome Type 1, 2 and 3

Variations for Pfeiffer Syndrome Type 1, 2 and 3

Expression for Pfeiffer Syndrome Type 1, 2 and 3

Search GEO for disease gene expression data for Pfeiffer Syndrome Type 1, 2 and 3.

Pathways for Pfeiffer Syndrome Type 1, 2 and 3

Pathways related to Pfeiffer Syndrome Type 1, 2 and 3 according to GeneCards Suite gene sharing:

(show all 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 FGFR1 FGFR2
2 12.2 FGFR1 FGFR2
3 12.15 FGFR1 FGFR2
4 12.12 FGFR1 FGFR2
5
Show member pathways
12.1 FGFR1 FGFR2
6
Show member pathways
12.03 FGFR1 FGFR2
7
Show member pathways
11.96 FGFR1 FGFR2
8
Show member pathways
11.96 FGFR1 FGFR2
9
Show member pathways
11.91 FGFR1 FGFR2
10
Show member pathways
11.9 FGFR1 FGFR2
11
Show member pathways
11.78 FGFR1 FGFR2
12
Show member pathways
11.73 FGFR1 FGFR2
13
Show member pathways
11.67 FGFR1 FGFR2
14
Show member pathways
11.63 FGFR1 FGFR2
15 11.56 FGFR1 FGFR2
16 11.51 FGFR1 FGFR2
17 11.33 FGFR1 FGFR2
18 11.26 FGFR1 FGFR2
19 11.2 FGFR1 FGFR2
20 10.97 FGFR1 FGFR2
21 10.63 FGFR1 FGFR2
22 10.28 FGFR1 FGFR2

GO Terms for Pfeiffer Syndrome Type 1, 2 and 3

Biological processes related to Pfeiffer Syndrome Type 1, 2 and 3 according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.63 FGFR1 FGFR2
2 angiogenesis GO:0001525 9.62 FGFR1 FGFR2
3 in utero embryonic development GO:0001701 9.62 FGFR1 FGFR2
4 protein autophosphorylation GO:0046777 9.61 FGFR1 FGFR2
5 peptidyl-tyrosine phosphorylation GO:0018108 9.61 FGFR1 FGFR2
6 phosphatidylinositol-mediated signaling GO:0048015 9.6 FGFR1 FGFR2
7 phosphatidylinositol phosphorylation GO:0046854 9.59 FGFR1 FGFR2
8 lung development GO:0030324 9.58 FGFR1 FGFR2
9 positive regulation of MAPK cascade GO:0043410 9.58 FGFR1 FGFR2
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.57 FGFR1 FGFR2
11 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.56 FGFR1 FGFR2
12 inner ear morphogenesis GO:0042472 9.55 FGFR1 FGFR2
13 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.54 FGFR1 FGFR2
14 ureteric bud development GO:0001657 9.52 FGFR1 FGFR2
15 skeletal system morphogenesis GO:0048705 9.51 FGFR1 FGFR2
16 positive regulation of cell cycle GO:0045787 9.49 FGFR1 FGFR2
17 midbrain development GO:0030901 9.48 FGFR1 FGFR2
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.46 FGFR1 FGFR2
19 positive regulation of cardiac muscle cell proliferation GO:0060045 9.43 FGFR1 FGFR2
20 branching involved in salivary gland morphogenesis GO:0060445 9.4 FGFR1 FGFR2
21 lung-associated mesenchyme development GO:0060484 9.37 FGFR1 FGFR2
22 mesenchymal cell differentiation GO:0048762 9.32 FGFR1 FGFR2
23 positive regulation of phospholipase activity GO:0010518 9.26 FGFR1 FGFR2
24 orbitofrontal cortex development GO:0021769 9.16 FGFR1 FGFR2
25 ventricular zone neuroblast division GO:0021847 8.96 FGFR1 FGFR2
26 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 8.62 FGFR1 FGFR2

Molecular functions related to Pfeiffer Syndrome Type 1, 2 and 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.46 FGFR1 FGFR2
2 protein tyrosine kinase activity GO:0004713 9.43 FGFR1 FGFR2
3 heparin binding GO:0008201 9.4 FGFR1 FGFR2
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.37 FGFR1 FGFR2
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.32 FGFR1 FGFR2
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 FGFR1 FGFR2
7 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGFR1 FGFR2
8 fibroblast growth factor binding GO:0017134 8.96 FGFR1 FGFR2
9 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR1 FGFR2

Sources for Pfeiffer Syndrome Type 1, 2 and 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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