KEGG DISEASE: Macrocephaly/autism syndrome

DISEASE: Macrocephaly/autism syndrome

Entry

H02723                      Disease

Name

Macrocephaly/autism syndrome

Description

Macrocephaly/autism syndrome refers to a subset of individuals within the autism spectrum with extreme macrocephaly or head circumference more than two standard deviations above the mean. The association with mutations in PTEN was confirmed in 10-20% of cases with autism and macrocephaly.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02723  Macrocephaly/autism syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06530  PI3K signaling
   H02723  Macrocephaly/autism syndrome

Network

nt06530 PI3K signaling

Gene

PTEN [HSA:5728] [KO:K01110]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:15805158

Authors

Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C

Title

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

Journal

J Med Genet 42:318-21 (2005)
DOI:10.1136/jmg.2004.024646

Reference

PMID:27860216

Authors

Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA

Title

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

Journal

Am J Med Genet C Semin Med Genet 172:402-421 (2016)
DOI:10.1002/ajmg.c.31531

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (7)   

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