MCID: PFF007
MIFTS: 36

Pfeiffer Syndrome Type 1 malady

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

Aliases & Classifications for Pfeiffer Syndrome Type 1

Aliases & Descriptions for Pfeiffer Syndrome Type 1:

Name: Pfeiffer Syndrome Type 1 24 56
Classic Pfeiffer Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
pfeiffer syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA93258
ICD10 via Orphanet 34 Q87.0

Summaries for Pfeiffer Syndrome Type 1

MalaCards based summary : Pfeiffer Syndrome Type 1, also known as classic pfeiffer syndrome, is related to pfeiffer syndrome type 1, 2 and 3 and pkp1-related ectodermal dysplasia/skin fragility syndrome, and has symptoms including high palate, brachycephaly and hypertelorism. An important gene associated with Pfeiffer Syndrome Type 1 is FGFR1 (Fibroblast Growth Factor Receptor 1), 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. Affiliated tissues include bone and eye, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

Related Diseases for Pfeiffer Syndrome Type 1

Diseases in the Pfeiffer Syndrome family:

Pfeiffer Syndrome Type 1 Pfeiffer Syndrome Type 1, 2 and 3
Pfeiffer Syndrome Type 3 Pfeiffer Syndrome Type 2

Diseases related to Pfeiffer Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 pfeiffer syndrome type 1, 2 and 3 11.9
2 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.0 FGFR1 FGFR2
3 pitx3-related anterior segment mesenchymal dysgenesis 10.0 FGFR1 FGFR2
4 familial porphyria cutanea tarda 10.0 FGFR1 FGFR2
5 hartsfield syndrome 10.0 FGFR1 FGFR2
6 pointer syndrome 10.0 FGFR1 FGFR2
7 osteoglophonic dysplasia 10.0 FGFR1 FGFR2
8 acrofacial dysostosis, palagonia type 10.0 FGFR1 FGFR2
9 crouzon syndrome with acanthosis nigricans 10.0 FGFR1 FGFR2
10 epidemic typhus 9.9 FGFR1 FGFR2
11 scaphocephaly, maxillary retrusion, and mental retardation 9.9 FGFR1 FGFR2
12 apert syndrome 9.9 FGFR1 FGFR2
13 cervical cancer, somatic 9.9 FGFR1 FGFR2
14 thanatophoric dysplasia, type i 9.9 FGFR1 FGFR2
15 saddan 9.9 FGFR1 FGFR2
16 robinow-sorauf syndrome 9.9 FGFR1 FGFR2
17 bone structure disease 9.9 FGFR1 FGFR2
18 atrophy of testis 9.9 FGFR1 FGFR2
19 pancreatic cystadenoma 9.9 FGFR1 FGFR2
20 hypogonadotropic hypogonadism 2 with or without anosmia 9.8 FGFR1 FGFR2
21 taeniasis 9.8 FGFR1 FGFR2
22 pfeiffer syndrome 9.8
23 cutaneous leishmaniasis 9.8 FGFR1 FGFR2
24 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.7 FGFR1 FGFR2

Graphical network of the top 20 diseases related to Pfeiffer Syndrome Type 1:



Diseases related to Pfeiffer Syndrome Type 1

Symptoms & Phenotypes for Pfeiffer Syndrome Type 1

Human phenotypes related to Pfeiffer Syndrome Type 1:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 56 32 Very frequent (99-80%) HP:0000218
2 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 high forehead 56 32 Very frequent (99-80%) HP:0000348
5 hearing impairment 56 32 Occasional (29-5%) HP:0000365
6 low-set ears 56 32 Frequent (79-30%) HP:0000369
7 proptosis 56 32 Frequent (79-30%) HP:0000520
8 toe syndactyly 56 32 Frequent (79-30%) HP:0001770
9 short foot 56 32 Frequent (79-30%) HP:0001773
10 aqueductal stenosis 56 32 Occasional (29-5%) HP:0002410
11 short nose 56 32 Very frequent (99-80%) HP:0003196
12 short palm 56 32 Frequent (79-30%) HP:0004279
13 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
14 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
15 hallux varus 56 32 Very frequent (99-80%) HP:0008080
16 aplasia/hypoplasia of the thumb 56 32 Very frequent (99-80%) HP:0009601
17 broad hallux phalanx 56 32 Very frequent (99-80%) HP:0010059
18 short hallux 56 32 Very frequent (99-80%) HP:0010109
19 broad thumb 56 32 Very frequent (99-80%) HP:0011304
20 bicoronal synostosis 56 32 Very frequent (99-80%) HP:0011318
21 midface retrusion 56 32 Very frequent (99-80%) HP:0011800

GenomeRNAi Phenotypes related to Pfeiffer Syndrome Type 1 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

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

(show all 9)
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
4 insulin
5 Hypoglycemic Agents
6 Insulin, Globin Zinc
7 Whey Protein Nutraceutical
8 Sunflower Nutraceutical
9 English Walnut Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2
2 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
3 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
4 Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic Syndrome Completed NCT00403689
5 Protein, Fiber, and Metabolic Syndrome - The PROFIMET Study Completed NCT00579657
6 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
7 POLY-unsaturated Fatty Acids in the Preservation of Dietary Effects on Hepatosteatosis and Energy Metabolism in Type 2 Diabetes Recruiting NCT03047668

Search NIH Clinical Center for Pfeiffer Syndrome Type 1

Genetic Tests for Pfeiffer Syndrome Type 1

Genetic tests related to Pfeiffer Syndrome Type 1:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 1 24 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

39
Bone, Eye

Publications for Pfeiffer Syndrome Type 1

Articles related to Pfeiffer Syndrome Type 1:

id Title Authors Year
1
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. ( 11556600 )
2001

Variations for Pfeiffer Syndrome Type 1

Expression for Pfeiffer Syndrome Type 1

Search GEO for disease gene expression data for Pfeiffer Syndrome Type 1.

Pathways for Pfeiffer Syndrome Type 1

Pathways related to Pfeiffer Syndrome Type 1 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

Biological processes related to Pfeiffer Syndrome Type 1 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 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

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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