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

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 3:

Name: Pfeiffer Syndrome Type 3 53

Characteristics:

Orphanet epidemiological data:

53
pfeiffer syndrome type 3:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile

Classifications:



External Ids:

Orphanet53 ORPHA93260
ICD10 via Orphanet30 Q87.0

Summaries for Pfeiffer Syndrome Type 3

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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, liver and bone.

Related Diseases for Pfeiffer Syndrome Type 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 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 syndrome10.1
2craniosynostosis9.8

Symptoms for Pfeiffer Syndrome Type 3

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Human phenotypes related to Pfeiffer Syndrome Type 3:

 63 53 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 hallmark (90%) HP:0000272
2 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
3 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
4 atresia of the external auditory canal63 hallmark (90%) HP:0000413
5 proptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000520
6 limitation of joint mobility63 53 hallmark (90%) Very frequent (99-80%) HP:0001376
7 laryngomalacia63 53 hallmark (90%) Very frequent (99-80%) HP:0001601
8 preaxial foot polydactyly63 hallmark (90%) HP:0001841
9 respiratory insufficiency63 hallmark (90%) HP:0002093
10 arnold-chiari malformation63 53 hallmark (90%) Very frequent (99-80%) HP:0002308
11 aqueductal stenosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002410
12 abnormality of calvarial morphology63 hallmark (90%) HP:0002648
13 tracheomalacia63 53 hallmark (90%) Very frequent (99-80%) HP:0002779
14 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
15 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
16 aplasia/hypoplasia of the thumb63 hallmark (90%) HP:0009601
17 abnormality of thumb phalanx63 hallmark (90%) HP:0009602
18 short hallux63 53 hallmark (90%) Very frequent (99-80%) HP:0010109
19 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
20 choanal atresia63 53 typical (50%) Frequent (79-30%) HP:0000453
21 brachydactyly syndrome63 typical (50%) HP:0001156
22 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
23 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
24 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
25 cognitive impairment63 typical (50%) HP:0100543
26 vesicoureteral reflux63 53 occasional (7.5%) Occasional (29-5%) HP:0000076
27 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
28 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
29 visual impairment63 occasional (7.5%) HP:0000505
30 increased intracranial pressure63 53 occasional (7.5%) Occasional (29-5%) HP:0002516
31 intestinal malrotation63 53 occasional (7.5%) Occasional (29-5%) HP:0002566
32 abnormal localization of kidney63 occasional (7.5%) HP:0100542
33 urogenital fistula63 occasional (7.5%) HP:0100589
34 horseshoe kidney53 Occasional (29-5%)
35 hydronephrosis53 Occasional (29-5%)
36 high palate53 Very frequent (99-80%)
37 brachyturricephaly53 Very frequent (99-80%)
38 low-set ears53 Frequent (79-30%)
39 stenosis of the external auditory canal53 Very frequent (99-80%)
40 amblyopia53 Occasional (29-5%)
41 intellectual disability53 Frequent (79-30%)
42 short foot53 Frequent (79-30%)
43 anal atresia53 Occasional (29-5%)
44 respiratory distress53 Very frequent (99-80%)
45 hallux varus53 Very frequent (99-80%)
46 broad hallux phalanx53 Very frequent (99-80%)
47 broad thumb53 Very frequent (99-80%)
48 midface retrusion53 Very frequent (99-80%)
49 small hand53 Frequent (79-30%)

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21526
2Liver ExtractsPhase 1, Phase 23868
3tyrosineNutraceuticalPhase 1, Phase 2659
4Insulin, Globin Zinc4523
5Hypoglycemic Agents5733
6insulin4524
7Whey ProteinNutraceutical208

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
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

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Anatomical Context for Pfeiffer Syndrome Type 3

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

35
Kidney, Liver, Bone, Eye

Animal Models for Pfeiffer Syndrome Type 3 or affiliated genes

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Publications for Pfeiffer Syndrome Type 3

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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

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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)SNVPathogenicrs121918502GRCh37Chr 10, 123276865: 123276865

Expression for genes affiliated with Pfeiffer Syndrome Type 3

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

Pathways for genes affiliated with Pfeiffer Syndrome Type 3

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GO Terms for genes affiliated with Pfeiffer Syndrome Type 3

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Sources for Pfeiffer Syndrome Type 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet