MCID: PFF009
MIFTS: 14

Pfeiffer Syndrome Type 3 malady

Eye, Bone, Fetal categories

Summaries for Pfeiffer Syndrome Type 3

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33MalaCards
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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 hypertelorism, low set ears/posteriorly rotated ears and syndactyly of fingers/interdigital palm. An important gene associated with Pfeiffer Syndrome Type 3 is FGFR2 (fibroblast growth factor receptor 2).

Aliases & Classifications for Pfeiffer Syndrome Type 3

Sources:
49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone


Aliases & Descriptions:

pfeiffer syndrome type 3 49
acrocephalopolysyndactyly type iv 61


External Ids:

ICD10 via Orphanet26 Q87.0

Related Diseases for Pfeiffer Syndrome Type 3

Sources:
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
7n syndrome10.2

Graphical network of diseases related to Pfeiffer Syndrome Type 3:



Diseases related to pfeiffer syndrome type 3

Clinical Features for Pfeiffer Syndrome Type 3

Sources:
49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Pfeiffer Syndrome Type 3

Animal Models for Pfeiffer Syndrome Type 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pfeiffer Syndrome Type 3

Genetic Variations for Pfeiffer Syndrome Type 3

Expression for genes affiliated with Pfeiffer Syndrome Type 3

Sources:
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

Compounds for genes affiliated with Pfeiffer Syndrome Type 3

GO Terms for genes affiliated with Pfeiffer Syndrome Type 3

Products for genes affiliated with Pfeiffer Syndrome Type 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pfeiffer Syndrome Type 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet