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1 OMIM reference -
1 associated gene
8 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
36 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial partial lipodystrophy, Dunnigan type

LMNA LMNA


COMMON
GENES
LMNA



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Familial partial lipodystrophy, Dunnigan type



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial partial lipodystrophy, Dunnigan type

Synonym(s):
- Cardiogenital syndrome
- Malouf syndrome
- Najjar syndrome

Synonym(s):
- Dunnigan syndrome
- FPLD2
- Familial partial lipodystrophy type 2

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Abnormal / polycystic ovaries
- Cardiomyopathy / hypertrophic / dilated


Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial partial lipodystrophy, Dunnigan type

Very frequent
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis



Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Diabetes mellitus
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Lipoatrophy
- Muscle hypertrophy
- Round face
- Skin hypoplasia / aplasia / atrophy
- Xanthomas / lipomas

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Nails anomalies
- Precocious menopause / secondary amenorrhea
- Premature eruption of teeth / natal teeth
- Thin skin

Occasional
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Acanthosis nigricans
- Angor pectoris / myocardial infarction
- Anomalies of complement
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cranial nerves palsy
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Myalgia / muscular pain
- Myopathy
- Pancreatitis
- Renal glomerular defect / glomerulopathy
- Splenomegaly
- Storage liver disease