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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
55 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Shprintzen-Goldberg syndrome

AKT2 FBN1
SKI


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Shprintzen-Goldberg syndrome
FBN1 SKI



Familial partial lipodystrophy due to AKT2 mutations
Shprintzen-Goldberg syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Marfanoid craniosynostosis syndrome
- SGS

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic 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: no data available
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537328


COMMON
SIGNS
- Autosomal dominant inheritance


Familial partial lipodystrophy due to AKT2 mutations
Shprintzen-Goldberg syndrome

Very frequent
- Abnormal fat distribution / lipodystrophy
- 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
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat foot
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Proptosis / exophthalmos
- Telecanthus / canthal dystopy

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Camptodactyly of some fingers
- Communicating hydrocephaly
- Craniostenosis / craniosynostosis / sutural synostosis
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Frontal bossing / prominent forehead
- High forehead
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Inguinal / inguinoscrotal / crural hernia
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Scoliosis
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Umbilical hernia

Occasional
- Abnormal vertebral size / shape
- Absent / hypotonic / flaccid abdominal wall muscles
- Anteverted nares / nostrils
- Apnea / sleep apnea
- Arnold-Chiari anomaly
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu valgum
- Hyperelastic skin / cutaneous hyperlaxity
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Microcephaly
- Myopia
- Narrow rib cage / thorax
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Prominent / bat ears
- Restricted joint mobility / joint stiffness / ankylosis
- Rib number anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes