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3 OMIM references -
3 associated genes
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Self-healing collodion baby
Dilated cardiomyopathy - hypergonadotropic hypogonadism

ALOX12B LMNA
ALOXE3
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALOX12B
(0.67)
LMNA



Citations in the biomedical literature:


Self-healing collodion baby
ALOX12B ALOXE3 TGM1
Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA



Self-healing collodion baby
Dilated cardiomyopathy - hypergonadotropic hypogonadism

Synonym(s):
- SHCB

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

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility

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

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: autosomal recessive

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


COMMON
SIGNS
- Autosomal recessive inheritance


Self-healing collodion baby
Dilated cardiomyopathy - hypergonadotropic hypogonadism

Very frequent
- Ichthyosis / ichthyosiform dermatitis
- Restricted joint mobility / joint stiffness / ankylosis



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