MCID: PFF007
MIFTS: 35

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:
23GeneTests, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 1:

Name: Pfeiffer Syndrome Type 1 23 52
 
Classic Pfeiffer Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA93258
ICD10 via Orphanet29 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 G-protein signaling_RhoA regulation pathway and mTOR signalling. Affiliated tissues include bone and eye.

Related Diseases for Pfeiffer Syndrome Type 1

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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)
idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome type 1, 2 and 312.0
2pfeiffer syndrome9.9
3pfn1-related amyotrophic lateral sclerosis9.9FGFR1, FGFR2
4flnb-related disorders9.9FGFR1, FGFR2
5plasmalogens synthesis deficiency isolated9.8FGFR1, FGFR2
6trigonocephaly 19.8FGFR1, FGFR2
7bladder cancer, somatic9.8FGFR1, FGFR2
8hypogonadotropic hypogonadism 2 with or without anosmia9.8FGFR1, FGFR2
9uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.8FGFR1, FGFR2
10central nervous system leukemia9.8FGFR1, FGFR2
11weill-marchesani syndrome9.8FGFR1, FGFR2
12thanatophoric dysplasia, type i9.8FGFR1, FGFR2
13antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.8FGFR1, FGFR2
14beare-stevenson cutis gyrata syndrome9.8FGFR1, FGFR2
15thanatophoric dysplasia, type ii9.7FGFR1, FGFR2
16ischemic bone disease9.7FGFR1, FGFR2
17hypochondroplasia9.7FGFR1, FGFR2
18craniosynostosis, type 19.7FGFR1, FGFR2
19progeria9.6FGFR1, FGFR2
20myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.6FGFR1, FGFR2
21jackson-weiss syndrome9.5FGFR1, FGFR2
22glycogen storage disease ix9.5FGFR1, FGFR2
23hypertrophic cardiomyopathy9.4FGFR1, FGFR2
24crohn's disease9.2FGFR1, FGFR2

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:

 52 (show all 21)
  • high palate
  • brachycephaly
  • hypertelorism
  • high forehead
  • hearing impairment
  • low-set ears
  • proptosis
  • toe syndactyly
  • short foot
  • aqueductal stenosis
  • short nose
  • short palm
  • depressed nasal bridge
  • finger syndactyly
  • hallux varus
  • aplasia/hypoplasia of the thumb
  • broad hallux phalanx
  • short hallux
  • broad thumb
  • bicoronal synostosis
  • midface retrusion

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 2633
2insulin4401

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
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 123 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

34
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 26)
idSuper pathwaysScoreTop Affiliating Genes
19.1FGFR1, FGFR2
2
Show member pathways
9.1FGFR1, FGFR2
3
Show member pathways
9.1FGFR1, FGFR2
4
Show member pathways
9.1FGFR1, FGFR2
5
Show member pathways
9.1FGFR1, FGFR2
69.1FGFR1, FGFR2
7
Show member pathways
9.1FGFR1, FGFR2
8
Show member pathways
9.1FGFR1, FGFR2
99.1FGFR1, FGFR2
109.1FGFR1, FGFR2
11
Show member pathways
9.1FGFR1, FGFR2
12
Show member pathways
9.1FGFR1, FGFR2
13
Show member pathways
9.1FGFR1, FGFR2
14
Show member pathways
9.1FGFR1, FGFR2
15
Show member pathways
9.1FGFR1, FGFR2
169.1FGFR1, FGFR2
179.1FGFR1, FGFR2
189.1FGFR1, FGFR2
199.1FGFR1, FGFR2
20
Show member pathways
9.1FGFR1, FGFR2
219.1FGFR1, FGFR2
22
Show member pathways
9.1FGFR1, FGFR2
23
Show member pathways
9.1FGFR1, FGFR2
249.1FGFR1, FGFR2
259.1FGFR1, FGFR2
269.1FGFR1, 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 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:00457879.7FGFR1, 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:00105189.6FGFR1, FGFR2
12branching involved in salivary gland morphogenesisGO:00604459.6FGFR1, FGFR2
13positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
14in utero embryonic developmentGO:00017019.5FGFR1, FGFR2
15ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
16protein autophosphorylationGO:00467779.4FGFR1, FGFR2
17peptidyl-tyrosine phosphorylationGO:00181089.4FGFR1, FGFR2
18midbrain developmentGO:00309019.4FGFR1, FGFR2
19angiogenesisGO:00015259.4FGFR1, FGFR2
20lung developmentGO:00303249.4FGFR1, FGFR2
21ureteric bud developmentGO:00016579.4FGFR1, FGFR2
22MAPK cascadeGO:00001659.3FGFR1, FGFR2
23positive regulation of MAPK cascadeGO:00434109.3FGFR1, FGFR2
24inner ear morphogenesisGO:00424729.1FGFR1, 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:00050079.7FGFR1, FGFR2
21-phosphatidylinositol-3-kinase activityGO:00163039.6FGFR1, FGFR2
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.5FGFR1, FGFR2
4fibroblast growth factor bindingGO:00171349.3FGFR1, FGFR2
5Ras guanyl-nucleotide exchange factor activityGO:00050889.1FGFR1, FGFR2
6heparin bindingGO:00082019.0FGFR1, FGFR2
7protein tyrosine kinase activityGO:00047138.8FGFR1, FGFR2

Sources for Pfeiffer Syndrome Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet