Cardiomyopathy, dilated, with hypergonadotropic hypogonadism

Preferred Label : Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Genital anomaly with cardiomyopathy; Najjar syndrome; Cardiomyopathy, congestive, with hypergonadotropic hypogonadism; Cardiomyopathy, dilated, with premature ovarian failure; Cardiogenital syndrome; Cardiomyopathy with primary testicular failure; Malouf syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0030);

Laboratory abnormalities : Elevated serum levels of follicle stimulating hormone (FSH); Elevated serum levels of luteinizing hormone (LH);

Prefixed ID : #212112;

Details

Origin ID

212112;

UMLS CUI

C0796031;

Currated CISMeF NLP mapping
- Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome [NCIt concept]
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [ORDO Disease]
- Malouf syndrome [MeSH concept]
- Najjar syndrome [MeSH concept]
- dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [DO Concept]
- malouf syndrome [MeSH Supplementary Concept]
- najjar syndrome [MeSH Supplementary Concept]
DO Cross reference
- dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Down-sloping shoulders [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Lipodystrophy [HPO term]
- Mitral regurgitation [HPO term]
- Osteopenia [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Short clavicles [HPO term]
ORDO concept(s)
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Malouf syndrome [MeSH concept]
- malouf syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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