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MOSPGF
MCID: MRB006
MIFTS: 22
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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:Inheritance:
Morbid Obesity and Spermatogenic Failure:
Autosomal recessive 57
Obesity Due to Cep19 Deficiency:
Autosomal recessive 58
Prevelance:
Obesity Due to Cep19 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Obesity Due to Cep19 Deficiency:
Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on the report of 1 consanguineous arab family (last curated january 2014) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases Reproductive diseases
ICD10:
32
Orphanet: 58
Rare endocrine diseases |
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UniProtKB/Swiss-Prot: 73 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 obesity due to cep19 deficiency. An important gene associated with Morbid Obesity and Spermatogenic Failure is CEP19 (Centrosomal Protein 19). Affiliated tissues include liver and heart, and related phenotypes are intellectual disability and hypertension Orphanet: 58 A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.
More information from OMIM:
615703
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Human phenotypes related to Morbid Obesity and Spermatogenic Failure:30 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615703 (Updated 08-Dec-2022) |
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Organs/tissues related to Morbid Obesity and Spermatogenic Failure:
MalaCards :
Liver,
Heart
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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:5
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Search
GEO
for disease gene expression data for Morbid Obesity and Spermatogenic Failure.
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