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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Achondrogenesis type 1A

AKT2 TRIP11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.63)
TRIP11



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Achondrogenesis type 1A
TRIP11



Familial partial lipodystrophy due to AKT2 mutations
Achondrogenesis type 1A

Synonym(s):
(no synonyms)

Synonym(s):
- Achondrogenesis, Houston-Harris type

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536015

Familial partial lipodystrophy due to AKT2 mutations
Achondrogenesis type 1A

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Liver / hepatic steatosis

Occasional
- Angor pectoris / myocardial infarction
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Heart / cardiac failure


Very frequent
- Abnormal / absent ossification
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Excess nuchal skin without pterygium colli
- Flat face
- Frontal bossing / prominent forehead
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Short / small nose
- Stillbirth / neonatal death

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Mutiple fractures / bone fragility
- Polyhydramnios
- Rib structure anomalies
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Umbilical hernia

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma