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Bannayan-Riley-Ruvalcaba syndrome
1 OMIM reference -
1 associated gene
74 connected diseases
55 signs/symptoms
Disease Type of connection
Cowden syndrome
Proteus syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
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):
- BRRS
- Myhre-Riley-Smith syndrome
- Syndrome de Myhre-Rikey-Smith
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PTEN P60484601728
Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Irregular / in bands / reticular skin hyperpigmentation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Polyposis of the bowel / colon / intestine
- Short stature / dwarfism / nanism
- Visceral angiomatosis (excluding skin)
- Xanthomas / lipomas

Frequent
- Mucosal / cutaneous hemorrhage
- Pectus excavatum
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Anteverted nares / nostrils
- Aortic dilatation / dilation
- Broad nose / nasal bridge
- Broad / bifid thumb
- Cafe-au-lait spot
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Cutis marmorata / marbled skin / livedo
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Early death / lethality
- Frontal bossing / prominent forehead
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- High vaulted / narrow palate
- Hypoglycemia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Long philtrum
- Long / large ear
- Lymphedema
- Lymphoma
- Meningioma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Myopathy
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- Telangiectasiae of the skin
- Thyroid neoplasm / tumor / carcinoma / cancer
- Thyroiditis
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy