|
PS
MCID: PFF001
MIFTS: 77
|
Pfeiffer Syndrome (PS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Infectious diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Pfeiffer Syndrome:
Characteristics:Orphanet epidemiological data:58
pfeiffer syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;
pfeiffer syndrome type 3
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
pfeiffer syndrome type 2
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
pfeiffer syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation in most cases three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic type 3: craniosynostosis, early demise, sporadic HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Fetal diseases Anatomical: Eye diseases Bone diseases
ICD10:
32
33
Orphanet: 58
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
|
|
MedlinePlus Genetics :
43
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
MalaCards based summary : Pfeiffer Syndrome, also known as infectious mononucleosis, is related to fgfr craniosynostosis syndromes and hypertelorism, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs rituximab and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skull, spleen and liver, and related phenotypes are ptosis and high palate Disease Ontology : 12 An acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull. GARD : 20 Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss ; and dental problems. Other features may include broad and deviated thumbs and great toes; brachydactyly ; and syndactyly. It is caused by mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. Pfeiffer syndrome is divided into 3 subtypes ( type 1, type 2 and type 3 ) based on the presence and severity of specific features. Management typically includes various surgical interventions. OMIM® : 57 Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome. (101600) (Updated 05-Apr-2021) MedlinePlus : 42 Infectious mononucleosis, or "mono", is an infection usually caused by the Epstein-Barr virus. The virus spreads through saliva, which is why it's sometimes called "kissing disease." Mono occurs most often in teens and young adults. However, you can get it at any age. Symptoms of mono include Fever Sore throat Swollen lymph glands Sometimes you may also have a swollen spleen. Serious problems are rare. A blood test can show if you have mono. Most people get better in two to four weeks. However, you may feel tired for a few months afterward. Treatment focuses on helping symptoms and includes medicines for pain and fever, warm salt water gargles and plenty of rest and fluids. KEGG : 36 Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome. UniProtKB/Swiss-Prot : 72 Pfeiffer syndrome: A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). Wikipedia : 73 Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of... more... |
Human phenotypes related to Pfeiffer Syndrome:58 31 (show top 50) (show all 79)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:101600 (Updated 05-Apr-2021)UMLS symptoms related to Pfeiffer Syndrome:fever; pruritus GenomeRNAi Phenotypes related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Pfeiffer Syndrome:46 (show all 23)
|
Drugs for Pfeiffer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 13)
Interventional clinical trials:(show all 11)
Cochrane evidence based reviews: infectious mononucleosis |
The Foundational Model of Anatomy Ontology organs/tissues related to Pfeiffer Syndrome:19
Skull
MalaCards organs/tissues related to Pfeiffer Syndrome:40
Spleen,
Liver,
T Cells,
Eye,
B Cells,
Bone,
Skin
|
Articles related to Pfeiffer Syndrome:(show top 50) (show all 6418)
|
Genes related to Pfeiffer Syndrome (2 elite genes):(show all 48) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Pfeiffer Syndrome:6 (show top 50) (show all 102)
UniProtKB/Swiss-Prot genetic disease variations for Pfeiffer Syndrome:72 (show all 19)
|
|
Search
GEO
for disease gene expression data for Pfeiffer Syndrome.
|
Pathways related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:(show all 50)
|
Cellular components related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 77)
Molecular functions related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:
|
|