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Achondrogenesis type 1A

1 OMIM reference -
1 associated gene
28 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy due to AKT2 mutations

1 associated gene
12 signs/symptoms

Achondrogenesis type 1A

Familial partial lipodystrophy due to AKT2 mutations

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Achondrogenesis type 1A		Familial partial lipodystrophy due to AKT2 mutations
	Synonym(s): - Achondrogenesis, Houston-Harris type		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: unknown 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: adulthood Average age of death: - Type of inheritance: unknown

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

Achondrogenesis type 1A		Familial partial lipodystrophy due to AKT2 mutations
	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		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