MCID: PFF007
MIFTS: 38

Pfeiffer Syndrome Type 1 malady

Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Pfeiffer Syndrome Type 1

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MalaCards: Pfeiffer Syndrome Type 1, also known as acrocephalopolysyndactyly type iv, is related to infectious mononucleosis and pfeiffer syndrome type 1, 2 and 3, and has symptoms including proptosis/exophthalmos, low set ears/posteriorly rotated ears and short hand/brachydactyly. An important gene associated with Pfeiffer Syndrome Type 1 is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are PIP3 activates AKT signaling and Fc-GammaR-Mediated Phagocytosis in Macrophages. The compounds serine and nickel have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related mouse phenotypes are hearing/vestibular/ear and integument.

Aliases & Classifications for Pfeiffer Syndrome Type 1

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20GeneTests, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant


Aliases & Descriptions:

pfeiffer syndrome type 1 20 48
acrocephalopolysyndactyly type iv 60
classic pfeiffer syndrome 48


External Ids:

ICD10 via Orphanet26 Q87.0

Related Diseases for Pfeiffer Syndrome Type 1

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pfeiffer Syndrome Type 1:



Diseases related to pfeiffer syndrome type 1

Clinical Features for Pfeiffer Syndrome Type 1

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48Orphanet
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Symptoms:

48 (show all 20)
  • 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
  • autosomal dominant inheritance
  • broad/bifid big toe
  • 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
  • brachycephaly/flat occiput

Drugs & Therapeutics for Pfeiffer Syndrome Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pfeiffer Syndrome Type 1

Drug clinical trials:

Search ClinicalTrials for Pfeiffer Syndrome Type 1

Search NIH Clinical Center for Pfeiffer Syndrome Type 1

Search CenterWatch for Pfeiffer Syndrome Type 1

Genetic Tests for Pfeiffer Syndrome Type 1

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20GeneTests
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Genetic tests related to Pfeiffer Syndrome Type 1:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 120 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

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32MalaCards
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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

32
Bone, Eye

Animal Models for Pfeiffer Syndrome Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pfeiffer Syndrome Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9FLG
2MP:00107718.5FGFR1, FGFR2, FLG
3MP:00053828.2FGFR1, FGFR2, FLG

Publications for Pfeiffer Syndrome Type 1

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Genetic Variations for Pfeiffer Syndrome Type 1

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Expression for genes affiliated with Pfeiffer Syndrome Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pfeiffer Syndrome Type 1

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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Sources:
53Reactome, 51QIAGEN, 59Tocris Bioscience, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology, 49PharmGKB, 52R&D Systems
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Pathways related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0FGFR2, FGFR1
2
Hide members
9.0FGFR1, FGFR2
3
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9.0FGFR2, FGFR1
4
Hide members
9.0FGFR1, FGFR2
5
Hide members
9.0FGFR1, FGFR2
6
Hide members
9.0FGFR1, FGFR2
7
Hide members
9.0FGFR1, FGFR2
8
Hide members
9.0FGFR1, FGFR2
9
Hide members
9.0FGFR2, FGFR1
10
Development FGF-family signaling
Hide members
9.0FGFR1, FGFR2
119.0FGFR2, FGFR1
12
Hide members
9.0FGFR1, FGFR2
139.0FGFR1, FGFR2
14
Hide members
9.0FGFR2, FGFR1
15
Hide members
9.0FGFR1, FGFR2
169.0FGFR2, FGFR1
179.0FGFR1, FGFR2
18
Hide members
9.0FGFR1, FGFR2
199.0FGFR2, FGFR1
209.0FGFR1, FGFR2
219.0FGFR1, FGFR2

Compounds for genes affiliated with Pfeiffer Syndrome Type 1

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1serine449.9FLG
2nickel44 2410.6FGFR2, FLG
3latex449.5FLG, FGFR2
4SU4984119.4FGFR1, FGFR2
5pd 161570599.4FGFR2, FGFR1
6fiin 1 hydrochloride599.4FGFR2, FGFR1
7su 5402599.4FGFR2, FGFR1
8su5402449.4FGFR1, FGFR2
9pd 17307444 5910.4FGFR2, FGFR1
10palifermin44 1110.3FGFR1, FGFR2
11Ponatinib 119.3FGFR1, FGFR2
12Regorafenib119.3FGFR2, FGFR1
13chondroitin sulfate44 2410.3FGFR1, FGFR2
14suramin44 28 1111.2FGFR1, FGFR2
15heparan sulfate44 2410.1FGFR1, FGFR2
16glyceraldehyde 3-phosphate449.0FGFR2, FGFR1
17phenylalanine449.0FGFR1, FGFR2
18bromodeoxyuridine448.8FGFR1, FGFR2, FLG
19steroid448.8FGFR1, FGFR2, FLG
20nitric oxide44 11 2410.8FLG, FGFR2, FGFR1
21agar448.7FGFR1, FGFR2
22retinoic acid44 249.7FGFR1, FGFR2, FLG
23cysteine448.7FLG, FGFR2, FGFR1
24lipid448.6FGFR1, FGFR2, FLG

GO Terms for genes affiliated with Pfeiffer Syndrome Type 1

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16Gene Ontology
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Cellular components related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160238.5FGFR1, FGFR2, FLG

Biological processes related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.4FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:0218479.4FGFR1, FGFR2
3positive regulation of phospholipase activityGO:0105189.4FGFR2, FGFR1
4mesenchymal cell differentiationGO:0487629.4FGFR1, FGFR2
5lung-associated mesenchyme developmentGO:0604849.4FGFR1, FGFR2
6branching involved in salivary gland morphogenesisGO:0604459.4FGFR2, FGFR1
7positive regulation of cardiac muscle cell proliferationGO:0600459.3FGFR1, FGFR2
8skeletal system morphogenesisGO:0487059.3FGFR2, FGFR1
9positive regulation of cell cycleGO:0457879.3FGFR2, FGFR1
10midbrain developmentGO:0309019.3FGFR1, FGFR2
11positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
12ureteric bud developmentGO:0016579.3FGFR2, FGFR1
13peptidyl-tyrosine phosphorylationGO:0181089.3FGFR1, FGFR2
14inner ear morphogenesisGO:0424729.3FGFR1, FGFR2
15positive regulation of MAPK cascadeGO:0434109.2FGFR2, FGFR1
16phosphatidylinositol-mediated signalingGO:0480159.2FGFR1, FGFR2
17insulin receptor signaling pathwayGO:0082869.2FGFR1, FGFR2
18protein autophosphorylationGO:0467779.1FGFR2, FGFR1
19fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR1, FGFR2
20Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR1, FGFR2
21in utero embryonic developmentGO:0017019.0FGFR1, FGFR2
22epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGFR1
23angiogenesisGO:0015258.7FGFR1, FGFR2

Molecular functions related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.0FGFR1, FGFR2
2heparin bindingGO:0082019.0FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.9FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.7FGFR1, FGFR2

Products for genes affiliated with Pfeiffer Syndrome Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pfeiffer Syndrome Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet