MCID: PFF008
MIFTS: 13

Pfeiffer Syndrome Type 1, 2 and 3

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

MalaCards integrated aliases for Pfeiffer Syndrome Type 1, 2 and 3:

Name: Pfeiffer Syndrome Type 1, 2 and 3 24
Acrocephalosyndactyly Type V 24
Pfeiffer Syndrome 69
Acs5 24
Ascv 24

Classifications:



Summaries for Pfeiffer Syndrome Type 1, 2 and 3

MalaCards based summary : Pfeiffer Syndrome Type 1, 2 and 3, also known as acrocephalosyndactyly type v, is related to pfeiffer syndrome. An important gene associated with Pfeiffer Syndrome Type 1, 2 and 3 is FGFR2 (Fibroblast Growth Factor Receptor 2). The drugs Mitogens and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver.

Related Diseases for Pfeiffer Syndrome Type 1, 2 and 3

Diseases in the Pfeiffer Syndrome family:

Pfeiffer Syndrome Type 1 Pfeiffer Syndrome Type 1, 2 and 3
Pfeiffer Syndrome Type 3 Pfeiffer Syndrome Type 2

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

id Related Disease Score Top Affiliating Genes
1 pfeiffer syndrome 11.1

Symptoms & Phenotypes for Pfeiffer Syndrome Type 1, 2 and 3

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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 1, Phase 2
2 Liver Extracts Phase 1, Phase 2
3 tyrosine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Active, not recruiting NCT01752920 Phase 1, Phase 2 ARQ 087
2 Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck Cancer Not yet recruiting NCT02706691 Phase 2 pan FGFR Kinase Inhibitor BGJ398
3 Pediatric MATCH: Pan-FGFR Tyrosine Kinase Inhibitor JNJ-42756493 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations Not yet recruiting NCT03210714 Phase 2 Erdafitinib
4 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308

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

Genetic Tests for Pfeiffer Syndrome Type 1, 2 and 3

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

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome Type 1, 2 and 3 24 FGFR2

Anatomical Context for Pfeiffer Syndrome Type 1, 2 and 3

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

39
Liver

Publications for Pfeiffer Syndrome Type 1, 2 and 3

Variations for Pfeiffer Syndrome Type 1, 2 and 3

Expression for Pfeiffer Syndrome Type 1, 2 and 3

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

Pathways for Pfeiffer Syndrome Type 1, 2 and 3

GO Terms for Pfeiffer Syndrome Type 1, 2 and 3

Sources for Pfeiffer Syndrome Type 1, 2 and 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....