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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
TARP syndrome

LMNA RBM10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.49)
RBM10



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
TARP syndrome
RBM10



Dilated cardiomyopathy - hypergonadotropic hypogonadism
TARP syndrome

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

Synonym(s):
- Pierre Robin sequence - congenital heart defect - talipes
- Pierre Robin syndrome - congenital heart defect - talipes
- Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare surgical cardiac disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536942

Dilated cardiomyopathy - hypergonadotropic hypogonadism
TARP syndrome

Very frequent
- Abnormal / polycystic ovaries
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis



Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Glossoptosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- X-linked recessive inheritance

Frequent
- Low set ears / posteriorly rotated ears
- Undescended / ectopic testes / cryptorchidia / unfixed testes