{"Name":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","DiseaseID__c":"GARD:0003373","id":3373,"encodedName":"dilated-cardiomyopathy-hypergonadotropic-hypogonadism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","Xref_IDs__c":"719451006; C0796031; C174217; DOID:0111584; MEDGEN:162901; MONDO:0008915; OMIM:212112; ORPHA:2229","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008915","Disease_Description__c":"This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).","GARD_Name__c":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","GARD_Synonym__c":"cardiogenital syndrome; cardiomyopathy with primary testicular failure; cardiomyopathy, congestive, with hypergonadotropic hypogonadism; cardiomyopathy, dilated, with hypergonadotropic hypogonadism; cardiomyopathy, dilated, with premature ovarian failure; genital anomaly with cardiomyopathy; malouf syndrome; najjar syndrome","Curated_Disease_Description_Source__c":"GARD:0003373","Curated_Disease_Description__c":"Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries). It is characterized by a disease of the heart muscle (dilated cardiomyopathy) and little or no production of sex hormones due to a problem with the pituitary gland or hypothalamus (hypergonadotropic hypogonadism). Other symptoms might include: characteristic facial features, intellectual disability, mild skeletal anomalies, and abnormalities of the metabolic system. Some cases of DCMHH are caused by genetic changes in the LMNA gene. Both autosomal dominant and autosomal recessive inheritance patterns have been described.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2229","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008915","ORPHANET_ID__c":"ORPHA:2229","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de miocardiopatía dilatada-hipogonadismo hipergonadotrópico","Spanish_Description_Source__c":"ORPHA:2229","Spanish_Description__c":"Este síndrome se caracteriza por la asociación de una miocardiopatía dilatada y un hipogonadismo hipergonadotrópico (DCM-HH).","Spanish_Disease_Name__c":"síndrome de miocardiopatía dilatada-hipogonadismo hipergonadotrópico","Spanish_GARD_Synonym__c":"síndrome cardiogenital; síndrome de najjar","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries). It is characterized by a disease of the heart muscle (dilated cardiomyopathy) and little or no production of sex hormones due to a problem with the pituitary gland or hypothalamus (hypergonadotropic hypogonadism). Other symptoms might include: characteristic facial features, intellectual disability, mild skeletal anomalies, and abnormalities of the metabolic system. Some cases of DCMHH are caused by genetic changes in the LMNA gene. Both autosomal dominant and autosomal recessive inheritance patterns have been described.","Curated_Disease_Description_Source__c":"GARD:0003373","GARD_Synonym__c":"cardiogenital syndrome; cardiomyopathy with primary testicular failure; cardiomyopathy, congestive, with hypergonadotropic hypogonadism; cardiomyopathy, dilated, with hypergonadotropic hypogonadism; cardiomyopathy, dilated, with premature ovarian failure; genital anomaly with cardiomyopathy; malouf syndrome; najjar syndrome","Name":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2229"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2229"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796031"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0796083"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003373","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C174217","Source__c":"MONDO:0008915","Xref__c":"C174217"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111584","Source__c":"MONDO:0008915","Xref__c":"DOID:0111584"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796031","Source__c":"C0796031","Xref__c":"C0796031"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162901","Source__c":"C0796031","Xref__c":"MEDGEN:162901"},{"URL__c":"https://www.omim.org/entry/212112","Source__c":"C0796031; MONDO:0008915; ORPHA:2229","Xref__c":"OMIM:212112"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719451006","Source__c":"MONDO:0008915","Xref__c":"719451006"},{"URL__c":"https://www.orpha.net/en/disease/detail/2229","Source__c":"C0796031; MONDO:0008915","Xref__c":"ORPHA:2229"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008915","Source__c":"GARD:0003373","Xref__c":"MONDO:0008915"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100362","HPO_Synonym__c":"Absent digital bone of the 3rd toe","HPO_Name__c":"Aplasia of the phalanges of the 3rd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Cardiology","Endocrine","Urologist","Pediatrics"],"Account":["Infertility","Cardiomyopathy"]},"synonyms":["cardiogenital syndrome"," cardiomyopathy with primary testicular failure"," cardiomyopathy, congestive, with hypergonadotropic hypogonadism"," cardiomyopathy, dilated, with hypergonadotropic hypogonadism"," cardiomyopathy, dilated, with premature ovarian failure"," genital anomaly with cardiomyopathy"," malouf syndrome"," najjar syndrome"]}