Morbid Obesity and Spermatogenic Failure disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁵⁹

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 615703

Orphanet ⁵⁹ ORPHA397615

ICD10 via Orphanet ³⁴ E66.8

MedGen ⁴² C3810324 CN185305

MeSH ⁴⁴ D007248 D009767

UMLS ⁷³ C3810324

Sources

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

Sources

Related Diseases for Morbid Obesity and Spermatogenic Failure

Sources

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

Sources

Drugs & Therapeutics for Morbid Obesity and Spermatogenic Failure

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

Sources

Genetic Tests for Morbid Obesity and Spermatogenic Failure

Sources

Anatomical Context for Morbid Obesity and Spermatogenic Failure

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

⁴¹

Liver, Heart

Sources

Publications for Morbid Obesity and Spermatogenic Failure

Sources

Genes for Morbid Obesity and Spermatogenic Failure

Genes related to Morbid Obesity and Spermatogenic Failure (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CEP19	Centrosomal Protein 19	Protein Coding	1288.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	24268657

Sources

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

Sources

Expression for Morbid Obesity and Spermatogenic Failure

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

Sources

Pathways for Morbid Obesity and Spermatogenic Failure

Sources

GO Terms for Morbid Obesity and Spermatogenic Failure

Sources

Sources for Morbid Obesity and Spermatogenic Failure

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia