MOSPGF
MCID: MRB006
MIFTS: 22

Morbid Obesity and Spermatogenic Failure (MOSPGF)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Morbid Obesity and Spermatogenic Failure

MalaCards integrated aliases for Morbid Obesity and Spermatogenic Failure:

Name: Morbid Obesity and Spermatogenic Failure 57 73 71
Obesity Due to Cep19 Deficiency 58 28 5
Mospgf 57 73
Obesity, Morbid, and Spermatogenic Failure 38
Mo1 Syndrome 73

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:

Orphanet: 58  
Rare endocrine diseases


Summaries for Morbid Obesity and Spermatogenic Failure

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

Related Diseases for Morbid Obesity and Spermatogenic Failure

Symptoms & Phenotypes for Morbid Obesity and Spermatogenic Failure

Human phenotypes related to Morbid Obesity and Spermatogenic Failure:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 hypertension 30 Very rare (1%) HP:0000822
3 type ii diabetes mellitus 30 Very rare (1%) HP:0005978
4 hypertriglyceridemia 30 Very rare (1%) HP:0002155
5 hepatic steatosis 30 Very rare (1%) HP:0001397
6 obesity 30 Very rare (1%) HP:0001513
7 increased ldl cholesterol concentration 30 Very rare (1%) HP:0003141
8 hypercholesterolemia 30 Very rare (1%) HP:0003124
9 decreased hdl cholesterol concentration 30 Very rare (1%) HP:0003233
10 premature coronary artery atherosclerosis 30 Very rare (1%) HP:0005181
11 oligospermia 30 Very rare (1%) HP:0000798
12 congestive heart failure 30 HP:0001635
13 myocardial infarction 30 HP:0001658
14 azoospermia 30 HP:0000027
15 infertility 30 HP:0000789
16 insulin resistance 30 HP:0000855

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
congestive heart failure
myocardial infarction
early-onset coronary artery disease

Metabolic Features:
insulin resistance
dyslipidemia (in some patients)

Growth Weight:
morbid obesity

Abdomen Liver:
fatty liver by ultrasound

Genitourinary Internal Genitalia Male:
azoospermia
infertility
oligospermia

Neurologic Central Nervous System:
mental retardation (rare)

Cardiovascular Vascular:
hypertension, systolic

Clinical features from OMIM®:

615703 (Updated 08-Dec-2022)

Drugs & Therapeutics for Morbid Obesity and Spermatogenic Failure

Search Clinical Trials, NIH Clinical Center for Morbid Obesity and Spermatogenic Failure

Genetic Tests for Morbid Obesity and Spermatogenic Failure

Genetic tests related to Morbid Obesity and Spermatogenic Failure:

# Genetic test Affiliating Genes
1 Obesity Due to Cep19 Deficiency 28 CEP19

Anatomical Context for Morbid Obesity and Spermatogenic Failure

Organs/tissues related to Morbid Obesity and Spermatogenic Failure:

MalaCards : Liver, Heart

Publications for Morbid Obesity and Spermatogenic Failure

Articles related to Morbid Obesity and Spermatogenic Failure:

# Title Authors PMID Year
1
Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. 57
24268657 2013

Variations for Morbid Obesity and Spermatogenic Failure

ClinVar genetic disease variations for Morbid Obesity and Spermatogenic Failure:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP19 NM_032898.5(CEP19):c.232C>T (p.Arg78Ter) SNV Pathogenic
120189 rs587777230 GRCh37: 3:196434682-196434682
GRCh38: 3:196707811-196707811
2 CEP19 NM_032898.5(CEP19):c.-11T>C SNV Benign
761411 rs147719730 GRCh37: 3:196435539-196435539
GRCh38: 3:196708668-196708668

Expression for Morbid Obesity and Spermatogenic Failure

Search GEO for disease gene expression data for Morbid Obesity and Spermatogenic Failure.

Pathways for Morbid Obesity and Spermatogenic Failure

GO Terms for Morbid Obesity and Spermatogenic Failure

Sources for Morbid Obesity and Spermatogenic Failure

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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