MCID: PFF007
MIFTS: 34

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:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 1:

Name: Pfeiffer Syndrome Type 1 22 51
 
Classic Pfeiffer Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet51 93258
ICD10 via Orphanet28 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 plagiocephaly and x-linked mental retardation, 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 Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways and mTOR signalling. Affiliated tissues include bone, eye and nk cells.

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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Symptoms:

 51 (show all 20)
  • brachycephaly/flat occiput
  • high forehead
  • hypertelorism
  • mid-facial hypoplasia/short/small midface
  • short/small nose
  • depressed nasal bridge
  • high vaulted/narrow palate
  • thumb hypoplasia/aplasia/absence
  • broad/bifid thumb
  • short big toe
  • broad/bifid big toe
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • low set ears/posteriorly rotated ears
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • short foot/brachydactyly of toes
  • syndactyly of toes
  • hearing loss/hypoacusia/deafness
  • stenosis of aqueduc of sylvius

HPO human phenotypes related to Pfeiffer Syndrome Type 1:

(show all 18)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 malar flattening hallmark (90%) HP:0000272
3 hypertelorism hallmark (90%) HP:0000316
4 high forehead hallmark (90%) HP:0000348
5 preaxial foot polydactyly hallmark (90%) HP:0001841
6 abnormality of calvarial morphology hallmark (90%) HP:0002648
7 short nose hallmark (90%) HP:0003196
8 depressed nasal bridge hallmark (90%) HP:0005280
9 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
10 abnormality of thumb phalanx hallmark (90%) HP:0009602
11 short hallux hallmark (90%) HP:0010109
12 low-set, posteriorly rotated ears typical (50%) HP:0000368
13 proptosis typical (50%) HP:0000520
14 brachydactyly syndrome typical (50%) HP:0001156
15 toe syndactyly typical (50%) HP:0001770
16 finger syndactyly typical (50%) HP:0006101
17 hearing impairment occasional (7.5%) HP:0000365
18 aqueductal stenosis occasional (7.5%) HP:0002410

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21386
2Liver ExtractsPhase 1, Phase 23572
3tyrosineNutraceuticalPhase 1, Phase 2596
4insulin4278
5Insulin, Globin Zinc4278
6Whey ProteinNutraceutical185

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic AlterationsRecruitingNCT01752920Phase 1, Phase 2
2A Phase II, Single Arm Study of BGJ398 in Patients With Advanced CholangiocarcinomaRecruitingNCT02150967Phase 2
3Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic SyndromeCompletedNCT00403689
4Protein, Fiber, and Metabolic Syndrome - The PROFIMET StudyCompletedNCT00579657
5Observing 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 122 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

33
Bone, Eye, Nk cells, Skin, Liver

Animal Models for Pfeiffer Syndrome Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Pfeiffer Syndrome Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Pfeiffer Syndrome Type 1

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Articles related to Pfeiffer Syndrome Type 1:

idTitleAuthorsYear
1
The association of MHC class I proteins with the 2B4 receptor inhibits self-killing of human NK cells. (20164429)
2010

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 21)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR1, FGFR2
2
Show member pathways
9.1FGFR1, FGFR2
3
Show member pathways
9.1FGFR1, FGFR2
4
Show member pathways
9.1FGFR1, FGFR2
59.1FGFR1, FGFR2
6
Show member pathways
9.1FGFR1, FGFR2
7
Show member pathways
9.1FGFR1, FGFR2
89.1FGFR1, FGFR2
9
Show member pathways
9.1FGFR1, FGFR2
10
Show member pathways
9.1FGFR1, FGFR2
11
Show member pathways
9.1FGFR1, FGFR2
12
Show member pathways
9.1FGFR1, FGFR2
139.1FGFR1, FGFR2
149.1FGFR1, FGFR2
159.1FGFR1, FGFR2
169.1FGFR1, FGFR2
179.1FGFR1, FGFR2
18
Show member pathways
9.1FGFR1, FGFR2
19
Show member pathways
9.1FGFR1, FGFR2
20
Show member pathways
9.1FGFR1, FGFR2
219.1FGFR1, 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 24)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
2lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
3positive regulation of phospholipase activityGO:00105189.7FGFR1, FGFR2
4regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7FGFR1, FGFR2
5phosphatidylinositol-mediated signalingGO:00480159.7FGFR1, FGFR2
6phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.6FGFR1, FGFR2
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
9positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
10epidermal growth factor receptor signaling pathwayGO:00071739.6FGFR1, FGFR2
11skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
12protein autophosphorylationGO:00467779.6FGFR1, FGFR2
13fibroblast growth factor receptor signaling pathwayGO:00085439.5FGFR1, FGFR2
14branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
15Ras protein signal transductionGO:00072659.4FGFR1, FGFR2
16MAPK cascadeGO:00001659.4FGFR1, FGFR2
17activation of MAPKK activityGO:00001869.3FGFR1, FGFR2
18vascular endothelial growth factor receptor signaling pathwayGO:00480109.3FGFR1, FGFR2
19insulin receptor signaling pathwayGO:00082869.3FGFR1, FGFR2
20negative regulation of transcription from RNA polymerase II promoterGO:00001229.2FGFR1, FGFR2
21axon guidanceGO:00074119.1FGFR1, FGFR2
22orbitofrontal cortex developmentGO:00217699.1FGFR1, FGFR2
23lung developmentGO:00303249.0FGFR1, FGFR2
24neurotrophin TRK receptor signaling pathwayGO:00480118.8FGFR1, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.3FGFR1, FGFR2
2protein homodimerization activityGO:00428039.1FGFR1, FGFR2

Sources for Pfeiffer Syndrome Type 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet