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MOSPGF
MCID: MRB006
MIFTS: 21
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Morbid Obesity and Spermatogenic Failure (MOSPGF)
Categories:
Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Morbid Obesity and Spermatogenic Failure:
Characteristics:Orphanet epidemiological data:58
obesity due to cep19 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
based on the report of 1 consanguineous arab family (last curated january 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases Reproductive diseases
ICD10:
33
Orphanet: 58
Rare endocrine diseases |
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UniProtKB/Swiss-Prot :
72
Morbid obesity and spermatogenic failure: An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.
MalaCards based summary : Morbid Obesity and Spermatogenic Failure, is also known as mospgf. An important gene associated with Morbid Obesity and Spermatogenic Failure is CEP19 (Centrosomal Protein 19). Affiliated tissues include heart and liver, and related phenotypes are intellectual disability and hypertension KEGG : 36 Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, has been identified in patients.
More information from OMIM:
615703
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Human phenotypes related to Morbid Obesity and Spermatogenic Failure:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:615703 (Updated 05-Apr-2021) |
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MalaCards organs/tissues related to Morbid Obesity and Spermatogenic Failure:40
Heart,
Liver
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Articles related to Morbid Obesity and Spermatogenic Failure:
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Genes related to Morbid Obesity and Spermatogenic Failure (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Morbid Obesity and Spermatogenic Failure:6
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Search
GEO
for disease gene expression data for Morbid Obesity and Spermatogenic Failure.
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