MCID: PFF007
MIFTS: 38

Pfeiffer Syndrome Type 1 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Pfeiffer Syndrome Type 1

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
21GeneTests, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant


Aliases & Descriptions:

pfeiffer syndrome type 1 21 50
acrocephalopolysyndactyly type iv 63
classic pfeiffer syndrome 50


External Ids:

ICD10 via Orphanet27 Q87.0

Related Diseases for Pfeiffer Syndrome Type 1

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
50Orphanet
See all sources


Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Pfeiffer Syndrome Type 1:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 121 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

34
Bone, Eye

Animal Models for Pfeiffer Syndrome Type 1 or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Pfeiffer Syndrome Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FGFR1, FGFR2

Publications for Pfeiffer Syndrome Type 1

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Pfeiffer Syndrome Type 1

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 52PharmGKB, 58SinoBiological, 55R&D Systems, 5Cell Signaling Technology, 62Tocris Bioscience
See all sources

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 pathway39
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 Glioblastoma39
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

About this section
Sources:
62Tocris Bioscience, 46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 30IUPHAR, 3BitterDB
See all sources

Compounds related to Pfeiffer Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1su 5402629.5FGFR1, FGFR2
2fiin 1 hydrochloride629.5FGFR1, FGFR2
3pd 161570629.5FGFR1, FGFR2
4su5402469.5FGFR2, FGFR1
5pd 17307446 6210.5FGFR1, FGFR2
6palifermin46 1210.5FGFR1, FGFR2
7ponatinib52 1210.5FGFR2, FGFR1
8regorafenib52 1210.5FGFR1, FGFR2
9chondroitin sulfate46 2510.5FGFR2, FGFR1
10suramin46 30 1211.5FGFR1, FGFR2
11bromodeoxyuridine469.5FGFR2, FGFR1
12heparan sulfate46 2510.5FGFR1, FGFR2
13glyceraldehyde 3-phosphate469.4FGFR2, FGFR1
14phenylalanine469.4FGFR1, FGFR2
15agar469.4FGFR1, FGFR2
16ribonucleic acid469.4FGFR1, FGFR2
17phosphotyrosine469.4FGFR1, FGFR2
1812-o-tetradecanoylphorbol 13-acetate469.4FGFR1, FGFR2
19polysaccharide469.4FGFR1, FGFR2
20paclitaxel46 52 1211.4FGFR1, FGFR2
21pd 98,059469.3FGFR2, FGFR1
22genistein46 30 62 3 25 1214.3FGFR1, FGFR2
23lysine469.3FGFR1, FGFR2
24thymidine46 2510.2FGFR2, FGFR1
25heparin46 30 25 1212.2FGFR2, FGFR1
26adenylate469.1FGFR2, FGFR1
27testosterone46 62 25 1212.1FGFR2, FGFR1
28progesterone46 30 62 25 1213.0FGFR2, FGFR1
29h2o2468.8FGFR2, FGFR1

GO Terms for genes affiliated with Pfeiffer Syndrome Type 1

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pfeiffer Syndrome Type 1

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet