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Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
1 OMIM reference -
2 associated genes
133 connected diseases
15 signs/symptoms
Disease Type of connection
Precursor T-cell acute lymphoblastic leukemia
Epidermolytic palmoplantar keratoderma
Juvenile myelomonocytic leukemia
Hereditary nonpolyposis colon cancer
Amyotrophic lateral sclerosis
Noonan syndrome
Distal 22q11.2 microdeletion syndrome
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Giant cell glioblastoma
Annular epidermolytic ichthyosis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Behavioral variant of frontotemporal dementia
Blackfan-Diamond anemia
Chronic myeloid leukemia
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Localized epidermolysis bullosa simplex
Pachyonychia congenita
Precursor B-cell acute lymphoblastic leukemia
Progressive non-fluent aphasia
Semantic dementia
Pilocytic astrocytoma
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lethal congenital contracture syndrome type 2
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
CLOVE syndrome
Cowden syndrome
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Adult hepatocellular carcinoma
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Marfan syndrome type 2
Multiple keratoacanthoma, Ferguson-Smith type
Complete androgen insensitivity syndrome
Familial hypospadias
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Kennedy disease
LEOPARD syndrome
Partial androgen insensitivity syndrome
Posterior polar cataract
Total congenital cataract
Growth delay due to insulin-like growth factor I resistance
Adult-onset distal myopathy due to VCP mutation
Autosomal agammaglobulinemia
Autosomal recessive epidermolysis bullosa simplex
Baraitser-Winter syndrome
CLN11 disease
Cardiofaciocutaneous syndrome
Congenital reticular ichthyosiform erythroderma
Costello syndrome
Dermatopathia pigmentosa reticularis
Developmental malformations - deafness - dystonia
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Estrogen resistance syndrome
Familial pancreatic carcinoma
Frontotemporal dementia with motor neuron disease
Huntington disease
Ichthyosis hystrix of Curth-Macklin
Juvenile Huntington disease
Juvenile amyotrophic lateral sclerosis
Keratosis palmoplantaris striata
LAMB-2-related infantile-onset nephrotic syndrome
Linear nevus sebaceus syndrome
Myxoid / round cell liposarcoma
Naegeli-Franceschetti-Jadassohn syndrome
Pierson syndrome
Pseudohypoaldosteronism type 2E
SHORT syndrome
Spastic paraplegia - Paget disease of bone
Superficial epidermolytic ichthyosis
Synaptic congenital myasthenic syndromes
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
White sponge nevus
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autoimmune lymphoproliferative syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Hartsfield-Bixler-Demyer syndrome
Hereditary gingival fibromatosis
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Septo-optic dysplasia
Tuberous sclerosis
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- MPPH syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
AKT3 Q9Y243611223
PIK3R2 O00459603157
Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)

- Cardiac septal defect
- Depressed nasal bridge
- Ectopic / horseshoe / fused kidneys
- High forehead
- Hypertelorism
- Long / large / bulbous nose
- Microstomia / little mouth
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Telecanthus / canthal dystopy
- Ventricular septal defect / interventricular communication