MCID: PFF009
MIFTS: 22

Pfeiffer Syndrome Type 3 malady

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

Aliases & Classifications for Pfeiffer Syndrome Type 3

About this section
Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 3:

Name: Pfeiffer Syndrome Type 3 54

Characteristics:

Orphanet epidemiological data:

54
pfeiffer syndrome type 3:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile

Classifications:



External Ids:

Orphanet54 ORPHA93260
ICD10 via Orphanet31 Q87.0

Summaries for Pfeiffer Syndrome Type 3

About this section
MalaCards based summary: Pfeiffer Syndrome Type 3 is related to pfeiffer syndrome and craniosynostosis, and has symptoms including Array, Array and Array. An important gene associated with Pfeiffer Syndrome Type 3 is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include kidney, bone and eye.

Related Diseases for Pfeiffer Syndrome Type 3

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome10.0
2craniosynostosis9.8

Symptoms & Phenotypes for Pfeiffer Syndrome Type 3

About this section

Human phenotypes related to Pfeiffer Syndrome Type 3:

 54 64 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
2 horseshoe kidney64 54 Occasional (29-5%) HP:0000085
3 hydronephrosis64 54 Occasional (29-5%) HP:0000126
4 cleft palate64 54 Occasional (29-5%) HP:0000175
5 high palate64 54 Very frequent (99-80%) HP:0000218
6 brachyturricephaly64 54 Very frequent (99-80%) HP:0000244
7 hypertelorism64 54 Very frequent (99-80%) HP:0000316
8 high forehead64 54 Very frequent (99-80%) HP:0000348
9 hearing impairment64 54 Occasional (29-5%) HP:0000365
10 low-set ears64 54 Frequent (79-30%) HP:0000369
11 stenosis of the external auditory canal64 54 Very frequent (99-80%) HP:0000402
12 choanal atresia64 54 Frequent (79-30%) HP:0000453
13 proptosis64 54 Very frequent (99-80%) HP:0000520
14 amblyopia64 54 Occasional (29-5%) HP:0000646
15 intellectual disability64 54 Frequent (79-30%) HP:0001249
16 seizures64 54 Frequent (79-30%) HP:0001250
17 limitation of joint mobility64 54 Very frequent (99-80%) HP:0001376
18 laryngomalacia64 54 Very frequent (99-80%) HP:0001601
19 toe syndactyly64 54 Frequent (79-30%) HP:0001770
20 short foot64 54 Frequent (79-30%) HP:0001773
21 anal atresia64 54 Occasional (29-5%) HP:0002023
22 respiratory distress64 54 Very frequent (99-80%) HP:0002098
23 arnold-chiari malformation64 54 Very frequent (99-80%) HP:0002308
24 aqueductal stenosis64 54 Very frequent (99-80%) HP:0002410
25 increased intracranial pressure64 54 Occasional (29-5%) HP:0002516
26 intestinal malrotation64 54 Occasional (29-5%) HP:0002566
27 tracheomalacia64 54 Very frequent (99-80%) HP:0002779
28 short nose64 54 Very frequent (99-80%) HP:0003196
29 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
30 finger syndactyly64 54 Frequent (79-30%) HP:0006101
31 hallux varus64 54 Very frequent (99-80%) HP:0008080
32 broad hallux phalanx64 54 Very frequent (99-80%) HP:0010059
33 short hallux64 54 Very frequent (99-80%) HP:0010109
34 broad thumb64 54 Very frequent (99-80%) HP:0011304
35 midface retrusion64 54 Very frequent (99-80%) HP:0011800
36 small hand64 54 Frequent (79-30%) HP:0200055

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21617
2Liver ExtractsPhase 1, Phase 24067
3tyrosineNutraceuticalPhase 1, Phase 2699
4Insulin, Globin Zinc4645
5Hypoglycemic Agents5896
6insulin4646
7Whey ProteinNutraceutical227

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic AlterationsActive, not recruitingNCT01752920Phase 1, Phase 2
2Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck CancerNot yet recruitingNCT02706691Phase 2
3Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic SyndromeCompletedNCT00403689
4Protein, Fiber, and Metabolic Syndrome - The PROFIMET StudyCompletedNCT00579657
5Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308

Search NIH Clinical Center for Pfeiffer Syndrome Type 3

Genetic Tests for Pfeiffer Syndrome Type 3

About this section

Anatomical Context for Pfeiffer Syndrome Type 3

About this section

MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

36
Kidney, Bone, Eye

Publications for Pfeiffer Syndrome Type 3

About this section

Articles related to Pfeiffer Syndrome Type 3:

idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Pfeiffer Syndrome Type 3

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

Pathways for genes affiliated with Pfeiffer Syndrome Type 3

About this section

GO Terms for genes affiliated with Pfeiffer Syndrome Type 3

About this section

Sources for Pfeiffer Syndrome Type 3

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet