MCID: PFF007
MIFTS: 38

Pfeiffer Syndrome Type 1 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Pfeiffer Syndrome Type 1

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33MalaCards
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MalaCards: Pfeiffer Syndrome Type 1, also known as acrocephalopolysyndactyly type iv, is related to pfeiffer syndrome type 1, 2 and 3 and osteoglophonic dysplasia, 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 ErbB4 Pathway and PI3K-Akt signaling pathway. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Pfeiffer Syndrome Type 1

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20GeneTests, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant


Aliases & Descriptions:

pfeiffer syndrome type 1 20 49
acrocephalopolysyndactyly type iv 62
classic pfeiffer syndrome 49


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

Symptoms for Pfeiffer Syndrome Type 1

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49Orphanet
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Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pfeiffer Syndrome Type 1

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

33
Bone, Eye

Animal Models for Pfeiffer Syndrome Type 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pfeiffer Syndrome Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FGFR1, FGFR2

Publications for Pfeiffer Syndrome Type 1

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52PubMed
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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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2BioGPS, 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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50PathCards, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 51PharmGKB, 57SinoBiological, 54R&D Systems, 5Cell Signaling Technology, 61Tocris Bioscience
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Pathways related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR2, FGFR1
29.1FGFR2, FGFR1
3
Show member pathways
9.1FGFR1, FGFR2
49.1FGFR1, FGFR2
5
Show member pathways
9.1FGFR2, FGFR1
6
Show member pathways
MAPK signaling pathway38
9.1FGFR2, FGFR1
7
Show member pathways
9.1FGFR1, FGFR2
8
Show member pathways
9.1FGFR1, FGFR2
9
Show member pathways
9.1FGFR1, FGFR2
10
Show member pathways
9.1FGFR1, FGFR2
11
Show member pathways
9.1FGFR2, FGFR1
12
Show member pathways
9.1FGFR2, FGFR1
13
Show member pathways
9.1FGFR2, FGFR1
14
Show member pathways
9.1FGFR1, FGFR2
15
Show member pathways
9.1FGFR1, FGFR2
16
Show member pathways
9.1FGFR1, FGFR2
17
Show member pathways
9.1FGFR1, FGFR2
18
Show member pathways
9.1FGFR1, FGFR2
19
Show member pathways
9.1FGFR2, FGFR1
20
Show member pathways
9.1FGFR2, FGFR1
219.1FGFR2, FGFR1
229.1FGFR1, FGFR2
23
Show member pathways
9.1FGFR1, FGFR2
24
Show member pathways
9.1FGFR2, FGFR1
25
Show member pathways
9.1FGFR2, FGFR1
269.1FGFR1, FGFR2
279.1FGFR1, FGFR2
289.1FGFR1, FGFR2
29
Show member pathways
9.1FGFR2, FGFR1
30
Show member pathways
9.1FGFR2, FGFR1
31
Show member pathways
9.1FGFR2, FGFR1
32
Show member pathways
Signaling Pathways in Glioblastoma38
9.1FGFR2, FGFR1
33
Show member pathways
9.1FGFR2, FGFR1
34
Show member pathways
9.1FGFR1, FGFR2
35
Show member pathways
9.1FGFR2, FGFR1
369.1FGFR1, FGFR2

Compounds for genes affiliated with Pfeiffer Syndrome Type 1

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61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR, 3BitterDB
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Compounds related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1su 5402619.5FGFR1, FGFR2
2fiin 1 hydrochloride619.5FGFR1, FGFR2
3pd 161570619.5FGFR1, FGFR2
4su5402459.5FGFR2, FGFR1
5pd 17307445 6110.5FGFR1, FGFR2
6palifermin45 1110.5FGFR1, FGFR2
7ponatinib51 1110.5FGFR2, FGFR1
8regorafenib51 1110.5FGFR1, FGFR2
9chondroitin sulfate45 2410.5FGFR2, FGFR1
10suramin45 29 1111.5FGFR1, FGFR2
11bromodeoxyuridine459.5FGFR2, FGFR1
12heparan sulfate45 2410.5FGFR1, FGFR2
13glyceraldehyde 3-phosphate459.4FGFR2, FGFR1
14phenylalanine459.4FGFR1, FGFR2
15agar459.4FGFR1, FGFR2
16ribonucleic acid459.4FGFR1, FGFR2
17phosphotyrosine459.4FGFR1, FGFR2
1812-o-tetradecanoylphorbol 13-acetate459.4FGFR1, FGFR2
19polysaccharide459.4FGFR1, FGFR2
20paclitaxel45 51 1111.4FGFR1, FGFR2
21pd 98,059459.3FGFR2, FGFR1
22genistein45 29 61 3 24 1114.3FGFR1, FGFR2
23lysine459.3FGFR1, FGFR2
24thymidine45 2410.2FGFR2, FGFR1
25heparin45 29 24 1112.2FGFR2, FGFR1
26adenylate459.1FGFR2, FGFR1
27testosterone45 61 24 1112.1FGFR2, FGFR1
28progesterone45 29 61 24 1113.0FGFR2, FGFR1
29h2o2458.8FGFR2, FGFR1

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:0160239.1FGFR1, FGFR2

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.5FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:0218479.5FGFR2, FGFR1
3positive regulation of phospholipase activityGO:0105189.5FGFR2, FGFR1
4mesenchymal cell differentiationGO:0487629.5FGFR2, FGFR1
5lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
6branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
7positive regulation of cardiac muscle cell proliferationGO:0600459.5FGFR2, FGFR1
8skeletal system morphogenesisGO:0487059.5FGFR1, FGFR2
9positive regulation of cell cycleGO:0457879.5FGFR1, FGFR2
10midbrain developmentGO:0309019.5FGFR1, FGFR2
11positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
12ureteric bud developmentGO:0016579.4FGFR1, FGFR2
13inner ear morphogenesisGO:0424729.4FGFR1, FGFR2
14positive regulation of MAPK cascadeGO:0434109.4FGFR1, FGFR2
15peptidyl-tyrosine phosphorylationGO:0181089.4FGFR2, FGFR1
16phosphatidylinositol-mediated signalingGO:0480159.4FGFR2, FGFR1
17insulin receptor signaling pathwayGO:0082869.4FGFR2, FGFR1
18protein autophosphorylationGO:0467779.4FGFR2, FGFR1
19fibroblast growth factor receptor signaling pathwayGO:0085439.3FGFR1, FGFR2
20Fc-epsilon receptor signaling pathwayGO:0380959.3FGFR1, FGFR2
21epidermal growth factor receptor signaling pathwayGO:0071739.3FGFR1, FGFR2
22angiogenesisGO:0015259.2FGFR1, FGFR2
23in utero embryonic developmentGO:0017019.2FGFR2, FGFR1
24neurotrophin TRK receptor signaling pathwayGO:0480119.1FGFR2, FGFR1
25innate immune responseGO:0450879.1FGFR2, FGFR1
26positive regulation of cell proliferationGO:0082849.0FGFR1, FGFR2
27negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR1, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.2FGFR1, FGFR2
2fibroblast growth factor bindingGO:0171349.1FGFR2, FGFR1
3protein homodimerization activityGO:0428039.1FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047139.0FGFR1, FGFR2
5heparin bindingGO:0082018.8FGFR2, FGFR1

Products for genes affiliated with Pfeiffer Syndrome Type 1

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Pfeiffer Syndrome Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet