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

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Sources:
24GeneTests, 30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 1:

Name: Pfeiffer Syndrome Type 1 24 53
 
Classic Pfeiffer Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA93258
ICD10 via Orphanet30 Q87.0

Summaries for Pfeiffer Syndrome Type 1

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MalaCards based summary: Pfeiffer Syndrome Type 1, also known as classic pfeiffer syndrome, is related to pfeiffer syndrome type 1, 2 and 3 and pfn1-related amyotrophic lateral sclerosis, and has symptoms including abnormality of the palate, malar flattening and hypertelorism. An important gene associated with Pfeiffer Syndrome Type 1 is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways are PI3K-Akt signaling pathway and mTOR signalling. Affiliated tissues include liver, bone and eye.

Related Diseases for Pfeiffer Syndrome Type 1

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



Diseases related to pfeiffer syndrome type 1

Symptoms for Pfeiffer Syndrome Type 1

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Human phenotypes related to Pfeiffer Syndrome Type 1:

 63 53 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate63 hallmark (90%) HP:0000174
2 malar flattening63 hallmark (90%) HP:0000272
3 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
4 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
5 preaxial foot polydactyly63 hallmark (90%) HP:0001841
6 abnormality of calvarial morphology63 hallmark (90%) HP:0002648
7 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
8 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
9 aplasia/hypoplasia of the thumb63 53 hallmark (90%) Very frequent (99-80%) HP:0009601
10 abnormality of thumb phalanx63 hallmark (90%) HP:0009602
11 short hallux63 53 hallmark (90%) Very frequent (99-80%) HP:0010109
12 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
13 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
14 brachydactyly syndrome63 typical (50%) HP:0001156
15 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
16 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
17 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
18 aqueductal stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002410
19 high palate53 Very frequent (99-80%)
20 brachycephaly53 Very frequent (99-80%)
21 low-set ears53 Frequent (79-30%)
22 short foot53 Frequent (79-30%)
23 short palm53 Frequent (79-30%)
24 hallux varus53 Very frequent (99-80%)
25 broad hallux phalanx53 Very frequent (99-80%)
26 broad thumb53 Very frequent (99-80%)
27 bicoronal synostosis53 Very frequent (99-80%)
28 midface retrusion53 Very frequent (99-80%)

Drugs & Therapeutics for Pfeiffer Syndrome Type 1

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21526
2Liver ExtractsPhase 1, Phase 23868
3tyrosineNutraceuticalPhase 1, Phase 2659
4Insulin, Globin Zinc4523
5Hypoglycemic Agents5733
6insulin4524
7Whey ProteinNutraceutical208

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic AlterationsActive, not recruitingNCT01752920Phase 1, Phase 2
2Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic SyndromeCompletedNCT00403689
3Protein, Fiber, and Metabolic Syndrome - The PROFIMET StudyCompletedNCT00579657
4Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308

Search NIH Clinical Center for Pfeiffer Syndrome Type 1

Genetic Tests for Pfeiffer Syndrome Type 1

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Genetic tests related to Pfeiffer Syndrome Type 1:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 124 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

35
Liver, Bone, Eye

Animal Models for Pfeiffer Syndrome Type 1 or affiliated genes

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Publications for Pfeiffer Syndrome Type 1

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Articles related to Pfeiffer Syndrome Type 1:

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

Variations for Pfeiffer Syndrome Type 1

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Expression for genes affiliated with Pfeiffer Syndrome Type 1

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

Pathways for genes affiliated with Pfeiffer Syndrome Type 1

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Pathways related to Pfeiffer Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.1FGFR1, FGFR2
2
Show member pathways
9.1FGFR1, FGFR2
39.1FGFR1, FGFR2
4
Show member pathways
9.1FGFR1, FGFR2
5
Show member pathways
9.1FGFR1, FGFR2
6
Show member pathways
9.1FGFR1, FGFR2
79.1FGFR1, FGFR2
8
Show member pathways
9.1FGFR1, FGFR2
99.1FGFR1, FGFR2
10
Show member pathways
9.1FGFR1, FGFR2
11
Show member pathways
9.1FGFR1, FGFR2
12
Show member pathways
9.1FGFR1, FGFR2
13
Show member pathways
9.1FGFR1, FGFR2
149.1FGFR1, FGFR2
159.1FGFR1, FGFR2
169.1FGFR1, FGFR2
179.1FGFR1, FGFR2
189.1FGFR1, FGFR2
19
Show member pathways
9.1FGFR1, FGFR2
20
Show member pathways
9.1FGFR1, FGFR2
219.1FGFR1, FGFR2
229.1FGFR1, FGFR2
239.1FGFR1, FGFR2

GO Terms for genes affiliated with Pfeiffer Syndrome Type 1

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Biological processes related to Pfeiffer Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
2phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGFR1, FGFR2
3mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
4phosphatidylinositol phosphorylationGO:00468549.7FGFR1, FGFR2
5regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7FGFR1, FGFR2
6positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
9phosphatidylinositol-mediated signalingGO:00480159.6FGFR1, FGFR2
10fibroblast growth factor receptor signaling pathwayGO:00085439.6FGFR1, FGFR2
11positive regulation of phospholipase activityGO:00105189.5FGFR1, FGFR2
12branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
13positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2
14in utero embryonic developmentGO:00017019.5FGFR1, FGFR2
15peptidyl-tyrosine phosphorylationGO:00181089.5FGFR1, FGFR2
16ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
17protein autophosphorylationGO:00467779.4FGFR1, FGFR2
18ureteric bud developmentGO:00016579.4FGFR1, FGFR2
19lung developmentGO:00303249.4FGFR1, FGFR2
20inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
21angiogenesisGO:00015259.3FGFR1, FGFR2
22midbrain developmentGO:00309019.3FGFR1, FGFR2
23positive regulation of MAPK cascadeGO:00434109.2FGFR1, FGFR2
24MAPK cascadeGO:00001659.1FGFR1, FGFR2
25orbitofrontal cortex developmentGO:00217699.1FGFR1, FGFR2
26lung-associated mesenchyme developmentGO:00604848.8FGFR1, FGFR2

Molecular functions related to Pfeiffer Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.8FGFR1, FGFR2
21-phosphatidylinositol-3-kinase activityGO:00163039.6FGFR1, FGFR2
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6FGFR1, FGFR2
4fibroblast growth factor bindingGO:00171349.2FGFR1, FGFR2
5heparin bindingGO:00082019.2FGFR1, FGFR2
6Ras guanyl-nucleotide exchange factor activityGO:00050889.1FGFR1, FGFR2
7protein tyrosine kinase activityGO:00047138.8FGFR1, FGFR2

Sources for Pfeiffer Syndrome Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet