Frasier Syndrome malady
Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Frasier Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Nephrological diseases, Reproductive diseases, Endocrine diseases
Rare renal diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
OMIM:49 Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al.,... (136680) more...
MalaCards based summary: Frasier Syndrome, also known as fs, is related to gonadal dysgenesis and denys-drash syndrome, and has symptoms including male pseudohermaphroditism, primary amenorrhea and renal insufficiency. An important gene associated with Frasier Syndrome is WT1 (Wilms Tumor 1), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Nephrin interactions. Affiliated tissues include kidney, and related mouse phenotypes are muscle and respiratory system.
Genetics Home Reference:23 Frasier syndrome is a condition that affects the kidneys and genitalia.
UniProtKB/Swiss-Prot:67 Frasier syndrome: Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant.
Wikipedia:68 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene. more...
Symptoms by clinical synopsis from OMIM:136680
Clinical features from OMIM:136680
Symptoms:51 (show all 7)
HPO human phenotypes related to Frasier Syndrome:(show all 15)
MalaCards organs/tissues related to Frasier Syndrome:33
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
MGI Mouse Phenotypes related to Frasier Syndrome:38 (show all 11)
Articles related to Frasier Syndrome:(show all 45)
UniProtKB/Swiss-Prot genetic disease variations for Frasier Syndrome:67
Clinvar genetic disease variations for Frasier Syndrome:5
Search GEO for disease gene expression data for Frasier Syndrome.
Cellular components related to Frasier Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Frasier Syndrome according to GeneCards Suite gene sharing:(show all 23)
Molecular functions related to Frasier Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet