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Hemimegalencephaly
2 associated genes
62 connected diseases
No signs/symptoms info
Disease Type of connection
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Hereditary nonpolyposis colon cancer
Cowden syndrome
CLOVE syndrome
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Autoimmune lymphoproliferative syndrome
Juvenile myelomonocytic leukemia
Costello syndrome
Linear nevus sebaceus syndrome
Noonan syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Autosomal agammaglobulinemia
SHORT syndrome
Phakomatosis pigmentokeratotica
Severe combined immunodeficiency due to LCK deficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Lethal congenital contracture syndrome type 2
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Precursor T-cell acute lymphoblastic leukemia
Estrogen resistance syndrome
Familial multiple nevi flammei
Sturge-Weber syndrome
Familial amyloidosis, Finnish type
Large congenital melanocytic nevus
Cardiofaciocutaneous syndrome
Familial pancreatic carcinoma
Pilocytic astrocytoma
22q11.2 deletion syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Amyotrophic lateral sclerosis
Autosomal dominant limb-girdle muscular dystrophy type 1D
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Genetic hyperferritinemia without iron overload
Hereditary hyperferritinemia with congenital cataracts
Hyper-IgM syndrome type 3
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intermittent hydrarthrosis
Neuroferritinopathy
Proteus syndrome
Seckel syndrome
TRAPS syndrome
Autosomal dominant nonsyndromic intellectual deficit
West syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Lymphangioleiomyomatosis
Tuberous sclerosis
Bilateral striopallidodentate calcinosis
Chronic mucocutaneous candidiasis
Chronic myelomonocytic leukemia
Herpetic encephalitis
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Myeloid neoplasm associated with PDGFRB rearrangement
Susceptibility to viral and mycobacterial infections
Unclassified chronic myeloproliferative disease
Synonym(s):
- Unilateral megalencephaly
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
AKT3 Q9Y243611223
PIK3CA P42336171834
No signs/symptoms info available.