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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
35 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Monosomy 22q13

AKT2 SHANK3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.63)
SHANK3



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Monosomy 22q13
SHANK3



Familial partial lipodystrophy due to AKT2 mutations
Monosomy 22q13

Synonym(s):
(no synonyms)

Synonym(s):
- 22q13 deletion
- Phelan-McDermid syndrome

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

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

Familial partial lipodystrophy due to AKT2 mutations
Monosomy 22q13

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
- Advanced bone age
- Hypotonia
- Insensitivity to pain
- Large hand
- Long / thick / curved lashes / trichomegaly / polytrichia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic toenails

Frequent
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Deepset eyes / enophthalmos
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat face
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Long / large / bulbous nose
- Pointed chin
- Psychic / behavioural troubles
- Ptosis
- Puffy eyelids
- Sacral sinus / dimple
- Thick / bushy eyebrows

Occasional
- Anomalies of teeth and dentition
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- Generalized obesity
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Umbilical hernia