MCID: MRB006
MIFTS: 20

Morbid Obesity and Spermatogenic Failure

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Reproductive diseases, Metabolic 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 75 6 73
Mospgf 57 75
Obesity, Morbid, and Spermatogenic Failure 40
Obesity Due to Cep19 Deficiency 59
Mo1 Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
obesity due to cep19 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on the report of 1 consanguineous arab family (last curated january 2014)


HPO:

32
morbid obesity and spermatogenic failure:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Morbid Obesity and Spermatogenic Failure

UniProtKB/Swiss-Prot : 75 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 liver and heart, and related phenotypes are obesity and hypertension

Description from OMIM: 615703

Related Diseases for Morbid Obesity and Spermatogenic Failure

Symptoms & Phenotypes for Morbid Obesity and Spermatogenic Failure

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
myocardial infarction
congestive heart failure
early-onset coronary artery disease

Metabolic Features:
insulin resistance
dyslipidemia (in some patients)

Growth Weight:
morbid obesity

Abdomen Liver:
fatty liver by ultrasound

GenitourinaryInternal GenitaliaMale:
azoospermia
infertility
oligospermia

Neurologic Central Nervous System:
mental retardation (rare)

Cardiovascular Vascular:
hypertension, systolic


Clinical features from OMIM:

615703

Human phenotypes related to Morbid Obesity and Spermatogenic Failure:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 obesity 32 very rare (1%) HP:0001513
2 hypertension 32 very rare (1%) HP:0000822
3 intellectual disability 32 very rare (1%) HP:0001249
4 type ii diabetes mellitus 32 very rare (1%) HP:0005978
5 hypertriglyceridemia 32 very rare (1%) HP:0002155
6 myocardial infarction 32 HP:0001658
7 congestive heart failure 32 HP:0001635
8 hepatic steatosis 32 very rare (1%) HP:0001397
9 azoospermia 32 HP:0000027
10 hypercholesterolemia 32 very rare (1%) HP:0003124
11 infertility 32 HP:0000789
12 oligospermia 32 very rare (1%) HP:0000798
13 insulin resistance 32 HP:0000855
14 decreased hdl cholesterol concentration 32 very rare (1%) HP:0003233
15 increased ldl cholesterol concentration 32 very rare (1%) HP:0003141
16 premature coronary artery atherosclerosis 32 very rare (1%) HP:0005181

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

Anatomical Context for Morbid Obesity and Spermatogenic Failure

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

41
Liver, Heart

Publications for Morbid Obesity and Spermatogenic Failure

Variations for Morbid Obesity and Spermatogenic Failure

ClinVar genetic disease variations for Morbid Obesity and Spermatogenic Failure:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP19 NM_032898.4(CEP19): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs587777230 GRCh37 Chromosome 3, 196434682: 196434682
2 CEP19 NM_032898.4(CEP19): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs587777230 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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