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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
37 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Microphthalmia with limb anomalies

AKT2 FNBP4
SMOC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.63)
FNBP4



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Microphthalmia with limb anomalies
FNBP4 SMOC1



Familial partial lipodystrophy due to AKT2 mutations
Microphthalmia with limb anomalies

Synonym(s):
(no synonyms)

Synonym(s):
- Anophthalmia-syndactyly syndrome
- OAS
- Ophthalmoacromelic syndrome
- Waardenburg anophthalmia syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive

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

Familial partial lipodystrophy due to AKT2 mutations
Microphthalmia with limb anomalies

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
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Blepharophimosis / short palpebral fissures
- Carpal bones fusion / synostosis
- Eyebrows anomalies
- Frontal bossing / prominent forehead
- Lower limb segmental anomalies
- Metacarpal anomalies / Archibald's sign
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Synostosis
- Upper limb segmental anomalies
- Wide space between 1st-2nd toes

Frequent
- Abnormal vertebral size / shape
- Bone / osseous hypoplasia
- Cleft lip
- Clinodactyly of fifth finger
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oligodactyly / ectrodactyly of fingers
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Simian crease / transverse / unique palmar crease
- Tarsal anomaly / fusion / synostosis
- Thumb anomalies (excluding hypoplasia)
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Upper limb polydactyly / hexadactyly

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Depressed premaxillary region / midface
- Ectopic / horseshoe / fused kidneys
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hydrocephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Postaxial polydactyly of toes / fifth supernumerary toe
- Talipes-valgus
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Varices / varicous veins / venous insufficiency