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Macrocephaly-autism syndrome
1 OMIM reference -
1 associated gene
74 connected diseases
No signs/symptoms info
Disease Type of connection
Cowden syndrome
Proteus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Precursor B-cell acute lymphoblastic leukemia
Idiopathic hypereosinophilic syndrome
Young adult-onset Parkinsonism
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Estrogen resistance syndrome
X-linked lymphoproliferative disease
Cerebellar ataxia - hypogonadism
Peutz-Jeghers syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Amyotrophic lateral sclerosis
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant methemoglobinemia
Autosomal recessive epidermolysis bullosa simplex
BAP1-related tumor predisposition syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
Congenital contractural arachnodactyly
Dermatopathia pigmentosa reticularis
Distal 22q11.2 microdeletion syndrome
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
FG syndrome type 1
Familial gastric cancer
Gastric linitis plastica
Gastrointestinal stromal tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hb Bart's hydrops fetalis
Hemoglobin H disease
Juvenile myelomonocytic leukemia
Localized epidermolysis bullosa simplex
Myeloid neoplasm associated with PDGFRA rearrangement
Naegeli-Franceschetti-Jadassohn syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Persistent Müllerian duct syndrome
SERKAL syndrome
Spinocerebellar ataxia type 11
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PTEN P60484601728
No signs/symptoms info available.