Disease #04051 (MOSPGF (obesity, morbid, and spermatogenic failure (MOSPGF)), OMIM:615703)

Official abbreviation MOSPGF
Name obesity, morbid, and spermatogenic failure (MOSPGF)
OMIM ID 615703
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene CEP19
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00417699 V-3 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual V-3 M yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417700 V-8 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual V-8 M yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417701 Vlb-3 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-3 F yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417702 Vlb-15 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-15 M yes Israel Arab 36y - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417703 Vlb-16 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-16 M yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417704 Vlb-24 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-24 F yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417705 Vlb-25 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-25 F yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417706 Vlb-26 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-26 M yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417707 Vlb-32 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-32 F yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417708 Vlb-33 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-33 F yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
00417709 Vlb-34 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-34 M yes Israel Arab - - - - MOSPGF 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 CEP19 CEP19 1 1 LOVD
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