MCID: PFF007
MIFTS: 30

Pfeiffer Syndrome Type 1 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases, Infectious diseases, Skin diseases, Endocrine diseases categories

Aliases & Classifications for Pfeiffer Syndrome Type 1

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

Aliases & Descriptions for Pfeiffer Syndrome Type 1:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


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 pfeiffer syndrome, 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 Apoptosis Pathway and RhoGDI Pathway. Affiliated tissues include eye, bone and skin.

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 1, Phase 2547
2Insulin, Globin Zinc4069
3insulin4069

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
Eye, Bone, Skin

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
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 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR1, FGFR2
2
Show member pathways
9.1FGFR1, FGFR2
3
Show member pathways
9.1FGFR1, FGFR2
49.1FGFR1, FGFR2
5
Show member pathways
9.1FGFR1, FGFR2
6
Show member pathways
9.1FGFR1, FGFR2
7
Show member pathways
9.1FGFR1, FGFR2
8
Show member pathways
9.1FGFR1, FGFR2
99.1FGFR1, FGFR2
10
Show member pathways
9.1FGFR1, FGFR2
119.1FGFR1, FGFR2
129.1FGFR1, FGFR2
139.1FGFR1, FGFR2
149.1FGFR1, FGFR2
159.1FGFR1, FGFR2
16
Angiogenesis (CST)
Show member pathways
9.1FGFR1, FGFR2
17
Show member pathways
9.1FGFR1, FGFR2
189.1FGFR1, FGFR2
19
Show member pathways
9.1FGFR1, FGFR2
209.1FGFR1, FGFR2

GO Terms for genes affiliated with Pfeiffer Syndrome Type 1

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.1FGFR1, FGFR2

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:00218479.8FGFR1, FGFR2
3fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
4positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, FGFR2
5positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
6midbrain developmentGO:00309019.8FGFR1, FGFR2
7lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
8positive regulation of cell cycleGO:00457879.7FGFR1, FGFR2
9mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
10branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
11positive regulation of MAPK cascadeGO:00434109.7FGFR1, FGFR2
12ureteric bud developmentGO:00016579.6FGFR1, FGFR2
13phosphatidylinositol-mediated signalingGO:00480159.6FGFR1, FGFR2
14positive regulation of phospholipase activityGO:00105189.6FGFR1, FGFR2
15in utero embryonic developmentGO:00017019.6FGFR1, FGFR2
16angiogenesisGO:00015259.6FGFR1, FGFR2
17protein autophosphorylationGO:00467779.6FGFR1, FGFR2
18lung developmentGO:00303249.5FGFR1, FGFR2
19regulation of cell proliferationGO:00421279.4FGFR1, FGFR2
20peptidyl-tyrosine phosphorylationGO:00181089.4FGFR1, FGFR2
21MAPK cascadeGO:00001659.4FGFR1, FGFR2
22activation of MAPKK activityGO:00001869.4FGFR1, FGFR2
23Ras protein signal transductionGO:00072659.4FGFR1, FGFR2
24insulin receptor signaling pathwayGO:00082869.3FGFR1, FGFR2
25fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR1, FGFR2
26Fc-epsilon receptor signaling pathwayGO:00380959.3FGFR1, FGFR2
27neurotrophin TRK receptor signaling pathwayGO:00480119.2FGFR1, FGFR2
28inner ear morphogenesisGO:00424729.1FGFR1, FGFR2
29vascular endothelial growth factor receptor signaling pathwayGO:00480109.1FGFR1, FGFR2
30skeletal system morphogenesisGO:00487059.0FGFR1, FGFR2
31epidermal growth factor receptor signaling pathwayGO:00071738.8FGFR1, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.6FGFR1, FGFR2
2fibroblast growth factor bindingGO:00171349.6FGFR1, FGFR2
3protein tyrosine kinase activityGO:00047139.1FGFR1, FGFR2
4heparin bindingGO:00082019.0FGFR1, 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