MCID: PFF009
MIFTS: 22

Pfeiffer Syndrome Type 3 malady

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

Aliases & Classifications for Pfeiffer Syndrome Type 3

Aliases & Descriptions for Pfeiffer Syndrome Type 3:

Name: Pfeiffer Syndrome Type 3 56

Characteristics:

Orphanet epidemiological data:

56
pfeiffer syndrome type 3
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

Classifications:



External Ids:

Orphanet 56 ORPHA93260
ICD10 via Orphanet 34 Q87.0

Summaries for Pfeiffer Syndrome Type 3

MalaCards based summary : Pfeiffer Syndrome Type 3 is related to pfeiffer syndrome and craniosynostosis, and has symptoms including vesicoureteral reflux, horseshoe kidney and hydronephrosis. An important gene associated with Pfeiffer Syndrome Type 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 kidney, bone and eye.

Related Diseases for Pfeiffer Syndrome Type 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pfeiffer syndrome 10.0
2 craniosynostosis 9.8

Symptoms & Phenotypes for Pfeiffer Syndrome Type 3

Human phenotypes related to Pfeiffer Syndrome Type 3:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
2 horseshoe kidney 56 32 Occasional (29-5%) HP:0000085
3 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
4 cleft palate 56 32 Occasional (29-5%) HP:0000175
5 high palate 56 32 Very frequent (99-80%) HP:0000218
6 brachyturricephaly 56 32 Very frequent (99-80%) HP:0000244
7 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
8 high forehead 56 32 Very frequent (99-80%) HP:0000348
9 hearing impairment 56 32 Occasional (29-5%) HP:0000365
10 low-set ears 56 32 Frequent (79-30%) HP:0000369
11 stenosis of the external auditory canal 56 32 Very frequent (99-80%) HP:0000402
12 choanal atresia 56 32 Frequent (79-30%) HP:0000453
13 proptosis 56 32 Very frequent (99-80%) HP:0000520
14 amblyopia 56 32 Occasional (29-5%) HP:0000646
15 intellectual disability 56 32 Frequent (79-30%) HP:0001249
16 seizures 56 32 Frequent (79-30%) HP:0001250
17 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
18 laryngomalacia 56 32 Very frequent (99-80%) HP:0001601
19 toe syndactyly 56 32 Frequent (79-30%) HP:0001770
20 short foot 56 32 Frequent (79-30%) HP:0001773
21 anal atresia 56 32 Occasional (29-5%) HP:0002023
22 respiratory distress 56 32 Very frequent (99-80%) HP:0002098
23 arnold-chiari malformation 56 32 Very frequent (99-80%) HP:0002308
24 aqueductal stenosis 56 32 Very frequent (99-80%) HP:0002410
25 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
26 intestinal malrotation 56 32 Occasional (29-5%) HP:0002566
27 tracheomalacia 56 32 Very frequent (99-80%) HP:0002779
28 short nose 56 32 Very frequent (99-80%) HP:0003196
29 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
30 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
31 hallux varus 56 32 Very frequent (99-80%) HP:0008080
32 broad hallux phalanx 56 32 Very frequent (99-80%) HP:0010059
33 short hallux 56 32 Very frequent (99-80%) HP:0010109
34 broad thumb 56 32 Very frequent (99-80%) HP:0011304
35 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
36 small hand 56 32 Frequent (79-30%) HP:0200055

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

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

(show all 7)
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
4 insulin
5 Hypoglycemic Agents
6 Insulin, Globin Zinc
7 Whey Protein Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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
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
3 Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic Syndrome Completed NCT00403689
4 Protein, Fiber, and Metabolic Syndrome - The PROFIMET Study Completed NCT00579657
5 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308

Search NIH Clinical Center for Pfeiffer Syndrome Type 3

Genetic Tests for Pfeiffer Syndrome Type 3

Anatomical Context for Pfeiffer Syndrome Type 3

MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

39
Kidney, Bone, Eye

Publications for Pfeiffer Syndrome Type 3

Articles related to Pfeiffer Syndrome Type 3:

id Title Authors Year
1
Pfeiffer Syndrome Type 3, a rare and unusual Craniosynostosis: Case reports from Korle Bu Teaching Hospital, Accra,Ghana. ( 24122692 )
2013
2
Natal molars in Pfeiffer syndrome type 3: a case report. ( 8110608 )
1993
3
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. ( 8456855 )
1993

Variations for Pfeiffer Syndrome Type 3

ClinVar genetic disease variations for Pfeiffer Syndrome Type 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865

Expression for Pfeiffer Syndrome Type 3

Search GEO for disease gene expression data for Pfeiffer Syndrome Type 3.

Pathways for Pfeiffer Syndrome Type 3

GO Terms for Pfeiffer Syndrome Type 3

Sources for Pfeiffer Syndrome Type 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....