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2 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Hypoplastic left heart syndrome
Congenital short bowel syndrome

GJA1 CLMP
NKX2-5 FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
FLNA



Citations in the biomedical literature:


Hypoplastic left heart syndrome
GJA1 NKX2-5
Congenital short bowel syndrome
CLMP FLNA



Hypoplastic left heart syndrome
Congenital short bowel syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: D018636
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Stillbirth / neonatal death


Hypoplastic left heart syndrome
Congenital short bowel syndrome

Very frequent
- Hypoplastic left heart / ventricle

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication


Very frequent
- Short bowel

Frequent
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal / gut / bowel malrotation
- Lipoatrophy
- Short stature / dwarfism / nanism

Occasional
- Hypospadias / epispadias / bent penis