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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
33 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Frontometaphyseal dysplasia

LMNA FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.73)
FLNA



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Frontometaphyseal dysplasia
FLNA



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Frontometaphyseal dysplasia

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538064

Dilated cardiomyopathy - hypergonadotropic hypogonadism
Frontometaphyseal dysplasia

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
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Diaphyseal anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Frontal sinus agenesis / anomaly
- Hypertelorism
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent supraorbital ridge
- Restricted joint mobility / joint stiffness / ankylosis
- Tooth shape anomaly
- X-linked recessive inheritance

Frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Carpal bones fusion / synostosis
- Conductive deafness / hearing loss
- Elbow dislocation
- High vaulted / narrow palate
- Long hand / arachnodactyly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Scoliosis
- Sensorineural deafness / hearing loss
- Thumb hypoplasia / aplasia / absence
- Ulnar deviation of fingers

Occasional
- Atrioventricular canal
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Larynx / laryngeal stenosis / atresia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Tracheal atresia / stenosis
- Ureteral stenosis / narrowing
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis