Phenotypes for disease #04051 (MOSPGF (obesity, morbid, and spermatogenic failure (MOSPGF)), OMIM:615703)

11 entries on 1 page. Showing entries 1 - 11.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000309115 body mass index [kg/m2] (max BMI): 44.7 (61.0); hypertension; fasting glucose (norm 70-110 mg/dl): 82; triglycerides (norm 10-150 mg/dl): 138; cholesterol (norm below 200 mg/dl): 209; low-density lipoprotein (norm below 100-130 mg/dl): 123.5; high-density lipoprotein (norm M above 40; F above 50 mg/dl): 44; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome; oligospermic but fertile - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 44y - - - - LOVD 00417699
0000309116 body mass index [kg/m2] (max BMI): 47.3 (60.0); hypertension; fasting glucose (norm 70-110 mg/dl): 128 (impaired); triglycerides (norm 10-150 mg/dl): 95; cholesterol (norm below200 mg/dl): 187; low-density lipoprotein (norm below100-130 mg/dl): 111.1; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 55; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome; oligospermic but fertile - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 29y - - - - LOVD 00417700
0000309117 body mass index [kg/m2] (max BMI): 34.0 (36.7); hypertension; fasting glucose (norm 70-110 mg/dl): 85; triglycerides (norm 10-150 mg/dl): 134; cholesterol (norm below200 mg/dl): 209; low-density lipoprotein (norm below100-130 mg/dl): 149.1; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 33; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 27y - - - - LOVD 00417701
0000309118 body mass index [kg/m2] (max BMI): 49.6 (52.0); hypertension; fasting glucose (norm 70-110 mg/dl): 78; triglycerides (norm 10-150 mg/dl): 145; cholesterol (norm below200 mg/dl): 150; low-density lipoprotein (norm below100-130 mg/dl): 100; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 40; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): ++; fatty liver ultrasound not available; metabolic syndrome; oligospermic but fertile; died as a result of complicated congestive heart failure and dilated cardiomyopathy - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 36y - - - - LOVD 00417702
0000309119 body mass index [kg/m2] (max BMI): 34.3 (38.8); hypertension; fasting glucose (norm 70-110 mg/dl): 93; triglycerides (norm 10-150 mg/dl): 117; cholesterol (norm below200 mg/dl): 149; low-density lipoprotein (norm below100-130 mg/dl): 105; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 44; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome; azoospermia; intellectual disability - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 21y - - - - LOVD 00417703
0000309120 body mass index [kg/m2] (max BMI): 50.9; hypertension; fasting glucose (norm 70-110 mg/dl): 89; triglycerides (norm 10-150 mg/dl): 96; cholesterol (norm below200 mg/dl): 189; low-density lipoprotein (norm below100-130 mg/dl): 119; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 49; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 25y - - - - LOVD 00417704
0000309121 body mass index [kg/m2] (max BMI): 51.4; hypertension; fasting glucose (norm 70-110 mg/dl): diabetic; triglycerides (norm 10-150 mg/dl): 149; cholesterol (norm below200 mg/dl): 198; low-density lipoprotein (norm below100-130 mg/dl): 124; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 41; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 24y - - - - LOVD 00417705
0000309122 body mass index [kg/m2] (max BMI): 36.8 (40.4); hypertension; fasting glucose (norm 70-110 mg/dl): diabetic; triglycerides (norm 10-150 mg/dl): 292; cholesterol (norm below200 mg/dl): 232; low-density lipoprotein (norm below100-130 mg/dl): 125.5; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 43; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome; oligospermic but fertile; intellectual disability - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 29y - - - - LOVD 00417706
0000309123 body mass index [kg/m2] (max BMI): 44.4 (49.6); hypertension; fasting glucose (norm 70-110 mg/dl): 89; triglycerides (norm 10-150 mg/dl): 228; cholesterol (norm below200 mg/dl): 184; low-density lipoprotein (norm below100-130 mg/dl): 102.2; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 34; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 27y - - - - LOVD 00417707
0000309124 body mass index [kg/m2] (max BMI): 49.2; hypertension; fasting glucose (norm 70-110 mg/dl): diabetic; triglycerides (norm 10-150 mg/dl): 196; cholesterol (norm below200 mg/dl): 210; low-density lipoprotein (norm below100-130 mg/dl): 128.4; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 39; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 24y - - - - LOVD 00417708
0000309125 body mass index [kg/m2] (max BMI): 42.2 (45.5); hypertension; fasting glucose: 80; triglycerides (norm 10-150 mg/dl): 225; cholesterol (norm below200 mg/dl): 135; low-density lipoprotein (norm below100-130 mg/dl): 105.5; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 30; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome; azoospermia; intellectual disability - obesity, morbid, and spermatogenic failure (MOSPGF) Familial, autosomal recessive 31y - - - - LOVD 00417709
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