MOSPGF
MCID: MRB006
MIFTS: 21

Morbid Obesity and Spermatogenic Failure (MOSPGF)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Morbid Obesity and Spermatogenic Failure

MalaCards integrated aliases for Morbid Obesity and Spermatogenic Failure:

Name: Morbid Obesity and Spermatogenic Failure 57 72 36 29 6 70
Mospgf 57 72
Obesity, Morbid, and Spermatogenic Failure 39
Obesity Due to Cep19 Deficiency 58
Mo1 Syndrome 72

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:

31
morbid obesity and spermatogenic failure:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Morbid Obesity and Spermatogenic Failure

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

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hypertension 31 very rare (1%) HP:0000822
3 type ii diabetes mellitus 31 very rare (1%) HP:0005978
4 hypertriglyceridemia 31 very rare (1%) HP:0002155
5 hepatic steatosis 31 very rare (1%) HP:0001397
6 obesity 31 very rare (1%) HP:0001513
7 increased ldl cholesterol concentration 31 very rare (1%) HP:0003141
8 hypercholesterolemia 31 very rare (1%) HP:0003124
9 decreased hdl cholesterol concentration 31 very rare (1%) HP:0003233
10 oligospermia 31 very rare (1%) HP:0000798
11 premature coronary artery atherosclerosis 31 very rare (1%) HP:0005181
12 congestive heart failure 31 HP:0001635
13 myocardial infarction 31 HP:0001658
14 azoospermia 31 HP:0000027
15 infertility 31 HP:0000789
16 insulin resistance 31 HP:0000855

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 Morbid Obesity and Spermatogenic Failure 29 CEP19

Anatomical Context for Morbid Obesity and Spermatogenic Failure

MalaCards organs/tissues related to Morbid Obesity and Spermatogenic Failure:

40
Heart, Liver

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:

6
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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