MCID: PFF009
MIFTS: 20

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:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 3:

Name: Pfeiffer Syndrome Type 3 52

Characteristics:

Orphanet epidemiological data:

52
pfeiffer syndrome type 3:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile

Classifications:



External Ids:

Orphanet52 ORPHA93260
ICD10 via Orphanet29 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 malar flattening, hypertelorism and high forehead. 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 syndrome10.2
2craniosynostosis9.9

Symptoms for Pfeiffer Syndrome Type 3

About this section

Symptoms:

 52 (show all 36)
  • vesicoureteral reflux
  • horseshoe kidney
  • hydronephrosis
  • cleft palate
  • high palate
  • brachyturricephaly
  • hypertelorism
  • high forehead
  • hearing impairment
  • low-set ears
  • stenosis of the external auditory canal
  • choanal atresia
  • proptosis
  • amblyopia
  • intellectual disability
  • seizures
  • limitation of joint mobility
  • laryngomalacia
  • toe syndactyly
  • short foot
  • anal atresia
  • respiratory distress
  • arnold-chiari malformation
  • aqueductal stenosis
  • increased intracranial pressure
  • intestinal malrotation
  • tracheomalacia
  • short nose
  • depressed nasal bridge
  • finger syndactyly
  • hallux varus
  • broad hallux phalanx
  • short hallux
  • broad thumb
  • midface retrusion
  • small hand

HPO human phenotypes related to Pfeiffer Syndrome Type 3:

(show all 33)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 high forehead hallmark (90%) HP:0000348
4 atresia of the external auditory canal hallmark (90%) HP:0000413
5 proptosis hallmark (90%) HP:0000520
6 limitation of joint mobility hallmark (90%) HP:0001376
7 laryngomalacia hallmark (90%) HP:0001601
8 preaxial foot polydactyly hallmark (90%) HP:0001841
9 respiratory insufficiency hallmark (90%) HP:0002093
10 arnold-chiari malformation hallmark (90%) HP:0002308
11 aqueductal stenosis hallmark (90%) HP:0002410
12 abnormality of calvarial morphology hallmark (90%) HP:0002648
13 tracheomalacia hallmark (90%) HP:0002779
14 short nose hallmark (90%) HP:0003196
15 depressed nasal bridge hallmark (90%) HP:0005280
16 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
17 abnormality of thumb phalanx hallmark (90%) HP:0009602
18 short hallux hallmark (90%) HP:0010109
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 choanal atresia typical (50%) HP:0000453
21 brachydactyly syndrome typical (50%) HP:0001156
22 seizures typical (50%) HP:0001250
23 toe syndactyly typical (50%) HP:0001770
24 finger syndactyly typical (50%) HP:0006101
25 cognitive impairment typical (50%) HP:0100543
26 vesicoureteral reflux occasional (7.5%) HP:0000076
27 cleft palate occasional (7.5%) HP:0000175
28 hearing impairment occasional (7.5%) HP:0000365
29 visual impairment occasional (7.5%) HP:0000505
30 increased intracranial pressure occasional (7.5%) HP:0002516
31 intestinal malrotation occasional (7.5%) HP:0002566
32 abnormal localization of kidney occasional (7.5%) HP:0100542
33 urogenital fistula occasional (7.5%) HP:0100589

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 1, Phase 2633
2insulin4401

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
2Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic SyndromeCompletedNCT00403689
3Protein, Fiber, and Metabolic Syndrome - The PROFIMET StudyCompletedNCT00579657
4Observing 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:

34
Kidney, Bone, Eye

Animal Models for Pfeiffer Syndrome Type 3 or affiliated genes

About this section

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

Clinvar genetic disease variations for Pfeiffer Syndrome Type 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys)single nucleotide variantPathogenicrs121918502GRCh37Chr 10, 123276865: 123276865

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet