MCID: PFF007
MIFTS: 41

Pfeiffer Syndrome Type 1 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases, Infectious diseases, Oral diseases, Skin diseases, Endocrine diseases categories

Summaries for Pfeiffer Syndrome Type 1

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MalaCards based summary: Pfeiffer Syndrome Type 1, also known as acrocephalopolysyndactyly type iv, is related to pfeiffer syndrome and pfeiffer syndrome type 1, 2 and 3, 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 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 eye and bone, and related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Pfeiffer Syndrome Type 1

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Sources:
22GeneTests, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
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Pfeiffer Syndrome Type 1, Aliases & Descriptions:

Name: Pfeiffer Syndrome Type 1 22 49
Acrocephalopolysyndactyly Type Iv 62
 
Classic Pfeiffer Syndrome 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
pfeiffer syndrome type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal


External Ids:

Orphanet49 93258
ICD10 via Orphanet28 Q87.0

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 for Pfeiffer Syndrome Type 1

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Symptoms:

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

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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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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Genetic tests related to Pfeiffer Syndrome Type 1:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 122 FGFR1

Anatomical Context for Pfeiffer Syndrome Type 1

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1:

33
Eye, Bone

Animal Models for Pfeiffer Syndrome Type 1 or affiliated genes

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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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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/GeneDecks:

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

Compounds for genes affiliated with Pfeiffer Syndrome Type 1

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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 1310.5FGFR1, FGFR2
7ponatinib51 1310.5FGFR1, FGFR2
8regorafenib51 1310.5FGFR2, FGFR1
9chondroitin sulfate45 2610.5FGFR1, FGFR2
10suramin45 30 1311.5FGFR1, FGFR2
11bromodeoxyuridine459.5FGFR2, FGFR1
12heparan sulfate45 2610.5FGFR1, FGFR2
13glyceraldehyde 3-phosphate459.4FGFR1, FGFR2
14agar459.4FGFR2, FGFR1
15phenylalanine459.4FGFR2, FGFR1
16phosphotyrosine459.4FGFR1, FGFR2
17ribonucleic acid459.4FGFR1, FGFR2
1812-o-tetradecanoylphorbol 13-acetate459.4FGFR2, FGFR1
19polysaccharide459.4FGFR1, FGFR2
20paclitaxel45 51 1311.4FGFR1, FGFR2
21pd 98,059459.3FGFR1, FGFR2
22genistein45 30 61 3 26 1314.3FGFR2, FGFR1
23lysine459.3FGFR1, FGFR2
24thymidine45 2610.2FGFR1, FGFR2
25heparin45 30 26 1312.2FGFR1, FGFR2
26adenylate459.1FGFR2, FGFR1
27testosterone45 61 26 1312.1FGFR1, FGFR2
28progesterone45 30 61 26 1313.0FGFR1, FGFR2
29h2o2458.8FGFR1, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.1FGFR1, 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:00356079.5FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
3positive regulation of phospholipase activityGO:00105189.5FGFR1, FGFR2
4mesenchymal cell differentiationGO:00487629.5FGFR2, FGFR1
5lung-associated mesenchyme developmentGO:00604849.5FGFR1, FGFR2
6branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
7positive regulation of cardiac muscle cell proliferationGO:00600459.5FGFR2, FGFR1
8skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
9positive regulation of cell cycleGO:00457879.5FGFR1, FGFR2
10midbrain developmentGO:00309019.5FGFR1, FGFR2
11positive regulation of mesenchymal cell proliferationGO:00020539.4FGFR2, FGFR1
12ureteric bud developmentGO:00016579.4FGFR1, FGFR2
13inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
14positive regulation of MAPK cascadeGO:00434109.4FGFR2, FGFR1
15peptidyl-tyrosine phosphorylationGO:00181089.4FGFR1, FGFR2
16phosphatidylinositol-mediated signalingGO:00480159.4FGFR1, FGFR2
17insulin receptor signaling pathwayGO:00082869.4FGFR1, FGFR2
18protein autophosphorylationGO:00467779.4FGFR2, FGFR1
19fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR1, FGFR2
20Fc-epsilon receptor signaling pathwayGO:00380959.3FGFR1, FGFR2
21epidermal growth factor receptor signaling pathwayGO:00071739.3FGFR2, FGFR1
22angiogenesisGO:00015259.2FGFR1, FGFR2
23in utero embryonic developmentGO:00017019.2FGFR1, FGFR2
24neurotrophin TRK receptor signaling pathwayGO:00480119.1FGFR2, FGFR1
25innate immune responseGO:00450879.1FGFR1, FGFR2
26positive regulation of cell proliferationGO:00082849.0FGFR1, FGFR2
27negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FGFR1, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2
2fibroblast growth factor bindingGO:00171349.1FGFR1, FGFR2
3protein homodimerization activityGO:00428039.1FGFR1, FGFR2
4protein tyrosine kinase activityGO:00047139.0FGFR2, FGFR1
5heparin bindingGO:00082018.8FGFR1, FGFR2

Products for genes affiliated with Pfeiffer Syndrome Type 1

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pfeiffer Syndrome Type 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet