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, 31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 1:

Name: Pfeiffer Syndrome Type 1 24 54
 
Classic Pfeiffer Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA93258
ICD10 via Orphanet31 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, and related mouse phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication.

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 & Phenotypes for Pfeiffer Syndrome Type 1

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Human phenotypes related to Pfeiffer Syndrome Type 1:

 64 54 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate64 hallmark (90%) HP:0000174
2 malar flattening64 hallmark (90%) HP:0000272
3 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
4 high forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000348
5 preaxial foot polydactyly64 hallmark (90%) HP:0001841
6 abnormality of calvarial morphology64 hallmark (90%) HP:0002648
7 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
8 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
9 aplasia/hypoplasia of the thumb64 54 hallmark (90%) Very frequent (99-80%) HP:0009601
10 abnormality of thumb phalanx64 hallmark (90%) HP:0009602
11 short hallux64 54 hallmark (90%) Very frequent (99-80%) HP:0010109
12 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
13 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
14 brachydactyly syndrome64 typical (50%) HP:0001156
15 toe syndactyly64 54 typical (50%) Frequent (79-30%) HP:0001770
16 finger syndactyly64 54 typical (50%) Frequent (79-30%) HP:0006101
17 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
18 aqueductal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002410
19 high palate54 Very frequent (99-80%)
20 brachycephaly54 Very frequent (99-80%)
21 low-set ears54 Frequent (79-30%)
22 short foot54 Frequent (79-30%)
23 short palm54 Frequent (79-30%)
24 hallux varus54 Very frequent (99-80%)
25 broad hallux phalanx54 Very frequent (99-80%)
26 broad thumb54 Very frequent (99-80%)
27 bicoronal synostosis54 Very frequent (99-80%)
28 midface retrusion54 Very frequent (99-80%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00365-A9.8FGFR1, FGFR2
2GR00248-A9.1FGFR1, FGFR2

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:

36
Liver, Bone, Eye

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

   (show less)
idNameGO IDTop Affiliating Genes

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.9FGFR1, FGFR2
2branching involved in salivary gland morphogenesisGO:00604459.9FGFR1, FGFR2
3fibroblast growth factor receptor signaling pathwayGO:00085439.9FGFR1, FGFR2
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.9FGFR1, FGFR2
5in utero embryonic developmentGO:00017019.9FGFR1, FGFR2
6inner ear morphogenesisGO:00424729.9FGFR1, FGFR2
7lung developmentGO:00303249.8FGFR1, FGFR2
8lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
9MAPK cascadeGO:00001659.8FGFR1, FGFR2
10mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
11midbrain developmentGO:00309019.8FGFR1, FGFR2
12orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
13peptidyl-tyrosine phosphorylationGO:00181089.8FGFR1, FGFR2
14phosphatidylinositol phosphorylationGO:00468549.8FGFR1, FGFR2
15phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.8FGFR1, FGFR2
16phosphatidylinositol-mediated signalingGO:00480159.8FGFR1, FGFR2
17positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
18positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
19positive regulation of MAPK cascadeGO:00434109.8FGFR1, FGFR2
20positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, FGFR2
21positive regulation of phospholipase activityGO:00105189.8FGFR1, FGFR2
22protein autophosphorylationGO:00467779.7FGFR1, FGFR2
23regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6FGFR1, FGFR2
24skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
25ureteric bud developmentGO:00016579.1FGFR1, FGFR2
26ventricular zone neuroblast divisionGO:00218479.1FGFR1, FGFR2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.8FGFR1, FGFR2
2fibroblast growth factor bindingGO:00171349.8FGFR1, FGFR2
3fibroblast growth factor-activated receptor activityGO:00050079.8FGFR1, FGFR2
4heparin bindingGO:00082019.8FGFR1, FGFR2
5phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.7FGFR1, FGFR2
6protein tyrosine kinase activityGO:00047139.7FGFR1, FGFR2
7Ras guanyl-nucleotide exchange factor activityGO:00050889.1FGFR1, FGFR2

Sources for Pfeiffer Syndrome Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet