MCID: PFF008
MIFTS: 11

Pfeiffer Syndrome Type 1, 2 and 3 malady

Categories: Genetic diseases, Rare diseases, Infectious diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Pfeiffer Syndrome Type 1, 2 and 3

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Aliases & Descriptions for Pfeiffer Syndrome Type 1, 2 and 3:

Name: Pfeiffer Syndrome Type 1, 2 and 3 22
Acrocephalosyndactyly Type V 22
Pfeiffer Syndrome 65
 
Acs5 22
Ascv 22

Classifications:



Summaries for Pfeiffer Syndrome Type 1, 2 and 3

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MalaCards based summary: Pfeiffer Syndrome Type 1, 2 and 3, also known as acrocephalosyndactyly type v, is related to pfeiffer syndrome and aseptic meningitis. An important gene associated with Pfeiffer Syndrome Type 1, 2 and 3 is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include eye, bone and liver.

Related Diseases for Pfeiffer Syndrome Type 1, 2 and 3

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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

Diseases related to Pfeiffer Syndrome Type 1, 2 and 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome11.7
2aseptic meningitis10.4
3meningitis10.4

Symptoms for Pfeiffer Syndrome Type 1, 2 and 3

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Drugs & Therapeutics for Pfeiffer Syndrome Type 1, 2 and 3

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Drugs for Pfeiffer Syndrome Type 1, 2 and 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver ExtractsPhase 1, Phase 23572
2MitogensPhase 1, Phase 21386
3tyrosineNutraceuticalPhase 1, Phase 2596

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
2Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308

Search NIH Clinical Center for Pfeiffer Syndrome Type 1, 2 and 3

Genetic Tests for Pfeiffer Syndrome Type 1, 2 and 3

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Genetic tests related to Pfeiffer Syndrome Type 1, 2 and 3:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 1, 2 and 322 FGFR2

Anatomical Context for Pfeiffer Syndrome Type 1, 2 and 3

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 1, 2 and 3:

33
Eye, Bone, Liver, Skin

Animal Models for Pfeiffer Syndrome Type 1, 2 and 3 or affiliated genes

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Publications for Pfeiffer Syndrome Type 1, 2 and 3

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Variations for Pfeiffer Syndrome Type 1, 2 and 3

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Clinvar genetic disease variations for Pfeiffer Syndrome Type 1, 2 and 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893

Expression for genes affiliated with Pfeiffer Syndrome Type 1, 2 and 3

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Search GEO for disease gene expression data for Pfeiffer Syndrome Type 1, 2 and 3.

Pathways for genes affiliated with Pfeiffer Syndrome Type 1, 2 and 3

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GO Terms for genes affiliated with Pfeiffer Syndrome Type 1, 2 and 3

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Sources for Pfeiffer Syndrome Type 1, 2 and 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet