MCID: PFF009
MIFTS: 18

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:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome Type 3:

Name: Pfeiffer Syndrome Type 3 51

Characteristics:

Orphanet epidemiological data:

51
pfeiffer syndrome type 3:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet51 93260
ICD10 via Orphanet28 Q87.0

Summaries for Pfeiffer Syndrome Type 3

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MalaCards based summary: Pfeiffer Syndrome Type 3 is related to pulmonary hypertension, 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, eye 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

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

idRelated DiseaseScoreTop Affiliating Genes
1pulmonary hypertension10.2

Symptoms for Pfeiffer Syndrome Type 3

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Symptoms:

 51 (show all 39)
  • turricephaly/oxycephaly/acrocephaly
  • brachycephaly/flat occiput
  • high forehead
  • hypertelorism
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • short/small nose
  • depressed nasal bridge
  • high vaulted/narrow palate
  • external auditory canal atresia/stenosis/agenesis
  • thumb hypoplasia/aplasia/absence
  • broad/bifid thumb
  • short big toe
  • broad/bifid big toe
  • laryngomalacia
  • tracheomalacia/tracheobronchomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • stenosis of aqueduc of sylvius
  • arnold-chiari anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • choanal atresia
  • low set ears/posteriorly rotated ears
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • short foot/brachydactyly of toes
  • syndactyly of toes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • early death/lethality
  • visual loss/blindness/amblyopia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • cranial hypertension

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

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21386
2Liver ExtractsPhase 1, Phase 23572
3tyrosineNutraceuticalPhase 1, Phase 2596
4insulin4278
5Insulin, Globin Zinc4278
6Whey ProteinNutraceutical185

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

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Anatomical Context for Pfeiffer Syndrome Type 3

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

33
Kidney, Eye, Bone, Lung, Liver, Skin

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
Frequency and epidemiologic aspects of male infertility. (25871021)
2015
2
The anti-adipogenic effect of macrophage-conditioned medium requires the IKKI^/NF-I_B pathway. (20803413)
2010
3
Functional characterization of the A411T (L137F) and G364A (D122N) genetic polymorphisms in human N-acetyltransferase 2. (17264801)
2007

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)single nucleotide variantPathogenicrs121918502GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet