MCID: PFF009
MIFTS: 21

Pfeiffer Syndrome Type 3 malady

Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Pfeiffer Syndrome Type 3

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32MalaCards
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MalaCards: Pfeiffer Syndrome Type 3, also known as acrocephalopolysyndactyly type iv, is related to infectious mononucleosis and goodman syndrome, and has symptoms including early death/lethality, intellectual deficit/mental/psychomotor retardation/learning disability and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Pfeiffer Syndrome Type 3 is FGFR2 (fibroblast growth factor receptor 2). Affiliated tissues include lung, kidney and bone.

Aliases & Classifications for Pfeiffer Syndrome Type 3

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48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Related Diseases for Pfeiffer Syndrome Type 3

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17GeneCards, 18GeneDecks
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Diseases in the Pfeiffer Syndrome Type 1 family:

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1infectious mononucleosis10.2
2goodman syndrome10.2
3camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia10.2
4faces syndrome10.2
5pfeiffer syndrome type 1, 2 and 310.2
6pfeiffer syndrome type 110.2
7craniosynostosis10.2

Graphical network of diseases related to Pfeiffer Syndrome Type 3:



Diseases related to pfeiffer syndrome type 3

Clinical Features for Pfeiffer Syndrome Type 3

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48Orphanet
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Symptoms:

48 (show all 39)
  • early death/lethality
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • syndactyly of toes
  • short foot/brachydactyly of toes
  • syndactyly of fingers/interdigital palm
  • short hand/brachydactyly
  • 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
  • low set ears/posteriorly rotated ears
  • choanal atresia
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • depressed nasal bridge
  • short/small nose
  • mid-facial hypoplasia/short/small midface
  • proptosis/exophthalmos
  • hypertelorism
  • high forehead
  • brachycephaly/flat occiput
  • external auditory canal atresia/stenosis/agenesis
  • thumb hypoplasia/aplasia/absence
  • broad/bifid thumb
  • restricted joint mobility/joint stiffness/ankylosis
  • arnold-chiari anomaly
  • stenosis of aqueduc of sylvius
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • tracheomalacia/tracheobronchomalacia
  • laryngomalacia
  • broad/bifid big toe
  • short big toe
  • turricephaly/oxycephaly/acrocephaly

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pfeiffer Syndrome Type 3

Drug clinical trials:

Search ClinicalTrials for Pfeiffer Syndrome Type 3

Search NIH Clinical Center for Pfeiffer Syndrome Type 3

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

32
Lung, Kidney, 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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Genetic Variations for Pfeiffer Syndrome Type 3

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Expression for genes affiliated with Pfeiffer Syndrome Type 3

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pfeiffer Syndrome Type 3

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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Compounds 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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Products for genes affiliated with Pfeiffer Syndrome Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pfeiffer Syndrome Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet