Cowden syndrome 5
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ghayda Mirzaa
- John M Graham
- Kim Keppler-Noreuil
- view full author information
Available tests
Genes See tests for all associated and related genes
Also known as: CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha, PIK3CA
Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Clinical features
Help- Abnormality of head or neck
- Furrowed tongue
Furrowed tongue
- MedGen UID: 21583
- Concept ID: C0040412
- Finding: Anatomical Abnormality
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Furrowed tongue
- Abnormality of limbs
- Palmoplantar keratosis
Palmoplantar keratosis
- MedGen UID: 44017
- Concept ID: C0022596
- Finding: Disease or Syndrome
Abnormality of limbs
- Palmoplantar keratosis
- Abnormality of the breast
- Breast carcinoma
Breast carcinoma
- MedGen UID: 146260
- Concept ID: C0678222
- Finding: Neoplastic Process
Abnormality of the breast
- Gynecomastia
Gynecomastia
- MedGen UID: 6694
- Concept ID: C0018418
- Finding: Disease or Syndrome
Abnormality of the breast
- Breast carcinoma
- Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
Abnormality of the cardiovascular system
- MedGen UID: 116727
- Concept ID: C0243050
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Colonic diverticula
Colonic diverticula
- MedGen UID: 3878
- Concept ID: C0012819
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Colonic diverticula
- Abnormality of the endocrine system
- Goiter
Goiter
- MedGen UID: 42270
- Concept ID: C0018021
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hyperthyroidism
Hyperthyroidism
- MedGen UID: 6972
- Concept ID: C0020550
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Goiter
- Abnormality of the eye
- Angioid streaks
Angioid streaks
- MedGen UID: 1541
- Concept ID: C0002982
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Angioid streaks
- Abnormality of the genitourinary system
- Hydrocele testis
Hydrocele testis
- MedGen UID: 318568
- Concept ID: C1720771
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Ovarian cyst
Ovarian cyst
- MedGen UID: 14540
- Concept ID: C0029927
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydrocele testis
- Abnormality of the immune system
- Thyroiditis
Thyroiditis
- MedGen UID: 21548
- Concept ID: C0040147
- Finding: Disease or Syndrome
Abnormality of the immune system
- Thyroiditis
- Abnormality of the integument
- Skin tags
Skin tags
- MedGen UID: 11452
- Concept ID: C0037293
- Finding: Neoplastic Process
Abnormality of the integument
- Skin tags
- Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
Hypoplasia of the maxilla
- MedGen UID: 66804
- Concept ID: C0240310
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive macrocephaly
Progressive macrocephaly
- MedGen UID: 395368
- Concept ID: C1859896
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intention tremor
Intention tremor
- MedGen UID: 1642960
- Concept ID: C4551520
- Finding: Sign or Symptom
Abnormality of the nervous system
- Meningioma
Meningioma
- MedGen UID: 7532
- Concept ID: C0025286
- Finding: Neoplastic Process
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Neoplasm
- Hamartomatous polyposis
Hamartomatous polyposis
- MedGen UID: 474435
- Concept ID: C3272802
- Finding: Disease or Syndrome
Neoplasm
- Subcutaneous lipoma
Subcutaneous lipoma
- MedGen UID: 234674
- Concept ID: C1403035
- Finding: Neoplastic Process
Neoplasm
- Thyroid adenoma
Thyroid adenoma
- MedGen UID: 56228
- Concept ID: C0151468
- Finding: Neoplastic Process
Neoplasm
- Transitional cell carcinoma of the bladder
Transitional cell carcinoma of the bladder
- MedGen UID: 76013
- Concept ID: C0279680
- Finding: Neoplastic Process
Neoplasm
- Hamartomatous polyposis
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