Disease: Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism

Name Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism

Synonyms CARDIOGENITAL SYNDROME , CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE , CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM , CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE , GENITAL ANOMALY WITH CARDIOMYOPATHY , MALOUF SYNDROME , NAJJAR SYNDROME

Classification cardiac, endocrine, genetic, infertility

Phenotypes Autosomal dominant inheritance; Autosomal recessive inheritance; Dilated cardiomyopathy; Down-sloping shoulders; Hypergonadotropic hypogonadism; Intellectual disability; Lipodystrophy; Mitral regurgitation; Ptosis; Retrognathia; Short clavicles

Associated Genes LMNA (Withdrawn symbols: CMD1A, HGPS, LGMD1B, LMN1, LMNL1, MADA, PRO1 )

Mouse Orthologs Lmna (Withdrawn symbols: Dhe )

Source OMIM:212112 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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