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Cowden syndrome
6 OMIM references -
7 associated genes
280 connected diseases
54 signs/symptoms
Disease Type of connection
Carney-Stratakis syndrome
Hereditary pheochromocytoma-paraganglioma
Proteus syndrome
Gastrointestinal stromal tumor
Isolated succinate-CoQ reductase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
Hereditary breast cancer
Bannayan-Riley-Ruvalcaba 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
CLOVE syndrome
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Carcinoid tumor and carcinoid syndrome
Young adult-onset Parkinsonism
Familial pancreatic carcinoma
Noonan syndrome
Juvenile myelomonocytic leukemia
Amyotrophic lateral sclerosis
Pilocytic astrocytoma
Estrogen resistance syndrome
Idiopathic hypereosinophilic syndrome
Autoimmune lymphoproliferative syndrome
Tuberous sclerosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Acute promyelocytic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Autosomal agammaglobulinemia
SHORT syndrome
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
LEOPARD syndrome
X-linked lymphoproliferative disease
Precursor B-cell acute lymphoblastic leukemia
Neurofibromatosis type 3
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Lethal congenital contracture syndrome type 2
Multiple endocrine neoplasia type 1
Cerebellar ataxia - hypogonadism
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Cardiofaciocutaneous syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Inflammatory myofibroblastic tumor
Typical nemaline myopathy
Autosomal dominant methemoglobinemia
X-linked non-syndromic intellectual deficit
Common variable immunodeficiency
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Phakomatosis pigmentokeratotica
Combined immunodeficiency due to STK4 deficiency
Alveolar rhabdomyosarcoma
Familial prostate cancer
Hereditary site-specific ovarian cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Severe combined immunodeficiency due to LCK deficiency
Dyskeratosis congenita
Familial melanoma
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Multiple endocrine neoplasia type 4
Severe combined immunodeficiency due to DNA-PKcs deficiency
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Classical progressive supranuclear palsy
Distal hereditary motor neuropathy type 2
Fanconi anemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Isolated focal cortical dysplasia type IIb
Pulverulent cataract
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Neurofibromatosis type 2
Annular epidermolytic ichthyosis
Congenital reticular ichthyosiform erythroderma
Epidermolytic ichthyosis
Adult-onset distal myopathy due to VCP mutation
Bohring-Opitz syndrome
Glucocorticoid resistance
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Autosomal dominant hypohidrotic ectodermal dysplasia
Pediatric systemic lupus erythematosus
Familial multiple nevi flammei
Sturge-Weber syndrome
Baraitser-Winter syndrome
Cap myopathy
Developmental malformations - deafness - dystonia
Digitotalar dysmorphism
Familial amyloidosis, Finnish type
Parkinsonian-pyramidal syndrome
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Large congenital melanocytic nevus
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Atypical teratoid tumor
Cerebellar ataxia-deafness-narcolepsy syndrome
Coffin-Siris syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Weaver syndrome
Catecholaminergic polymorphic ventricular tachycardia
Peutz-Jeghers syndrome
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
1p36 deletion syndrome
Familial cylindromatosis
Familial multiple trichoepithelioma
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Shprintzen-Goldberg syndrome
Spinocerebellar ataxia type 1
17p13.3 microduplication syndrome
22q11.2 deletion syndrome
Acrodysostosis with multiple hormone resistance
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive epidermolysis bullosa simplex
BAP1-related tumor predisposition syndrome
Beta-thalassemia intermedia
Beta-thalassemia major
Blepharophimosis-intellectual deficit syndrome, MKB type
Charcot-Marie-Tooth disease type 4G
Congenital contractural arachnodactyly
Congenital myopathy with excess of thin filaments
Congenital pulmonary alveolar proteinosis
Dermatopathia pigmentosa reticularis
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal hereditary motor neuropathy type 7
Dominant beta-thalassemia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
FG syndrome type 1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial gastric cancer
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Gastric linitis plastica
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Genetic hyperferritinemia without iron overload
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hb Bart's hydrops fetalis
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin H disease
Hemoglobin Lepore - beta-thalassemia
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hereditary hyperferritinemia with congenital cataracts
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hyper-IgM syndrome type 3
Intermediate nemaline myopathy
Intermittent hydrarthrosis
Isolated CoQ-cytochrome C reductase deficiency
Localized epidermolysis bullosa simplex
Miller-Dieker syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Naegeli-Franceschetti-Jadassohn syndrome
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Papillary or follicular thyroid carcinoma
Perry syndrome
Persistent Müllerian duct syndrome
SERKAL syndrome
Seckel syndrome
Severe congenital nemaline myopathy
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Syndromic diarrhea
TRAPS syndrome
Translocation renal cell carcinoma
Wrinkly skin syndrome
X-linked intellectual deficit with marfanoid habitus
West syndrome
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
Acute basophilic leukemia
Autosomal recessive malignant osteopetrosis
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Hereditary sensory and autonomic neuropathy type 2
Huntington disease
Juvenile Huntington disease
Melanoma of soft part
Pseudohypoaldosteronism type 2C
Thrombocytopenia with congenital dyserythropoietic anemia
Uveal coloboma - cleft lip and palate - intellectual deficit
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Acute myeloid leukemia
Autosomal dominant macrothrombocytopenia
Autosomal recessive systemic lupus erythematosus
Chronic granulomatous disease
Deafness - lymphedema - leukemia
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Herpetic encephalitis
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Pseudohypoaldosteronism type 2B
- Cowden disease
- Multiple hamartoma syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: D006223

Very frequent
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- Palmoplantar hyperkeratosis / keratoderma
- Polyposis of the bowel / colon / intestine
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Meningioma
- Neoplasms / tumors
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Thyroid anomalies
- Xanthomas / lipomas

- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- Cafe-au-lait spot
- Cataract / lens opacification
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- T-cell deficiency / cellular immunity deficiency
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterine / uterus / Fallopian tubes anomalies
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer