Cowden syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Multiple hamartoma syndrome
Cowden disease
Number of Symptoms 82
OrphanetNr: 201
OMIM Id: 158350
612359
615106
615107
615108
615109
ICD-10: Q85.8
UMLs: C0018553
MeSH: D006223
MedDRA: 10051906
Snomed: 58037000

Prevalence, inheritance and age of onset:

Prevalence: 0.45 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic digestive tract tumor
 -Rare genetic disease
Intestinal polyposis syndrome
 -Rare gastroenterologic disease
 -Rare oncologic disease
PTEN hamartoma tumor syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease
Rare nevus
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
2
 (HPO:0000034) Hydrocele testis 18 / 7739
3
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
4
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
5
 (HPO:0000138) Ovarian cyst 25 / 7739
6
 (HPO:0010784) Uterine neoplasm Occasional [Orphanet] 13 / 7739
7
 (HPO:0006740) Transitional cell carcinoma of the bladder 7 / 7739
8
 (HPO:0000036) Abnormality of the penis Frequent [Orphanet] 8 / 7739
9
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
10
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
11
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
12
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
13
 (HPO:0004481) Progressive macrocephaly 8 / 7739
14
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
15
 (HPO:0000160) Narrow mouth 188 / 7739
16
 (HPO:0000218) High palate 356 / 7739
17
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
18
 (HPO:0009720) Adenoma sebaceum Frequent [Orphanet] 12 / 7739
19
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
20
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
21
 (HPO:0000347) Micrognathia 426 / 7739
22
 (HPO:0000221) Furrowed tongue Frequent [Orphanet] 24 / 7739
23
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
24
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
25
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
26
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
27
 (HPO:0100780) Conjunctival hamartoma Very frequent [Orphanet] 4 / 7739
28
 (HPO:0001102) Angioid streaks of the retina 11 / 7739
29
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
31
 (HPO:0001256) Intellectual disability, mild 12 % [HPO:skoehler] 141 / 7739
32
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
33
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
34
 (HPO:0002858) Meningioma Frequent [Orphanet] 22 / 7739
35
 (HPO:0002080) Intention tremor 44 / 7739
36
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
37
 (HPO:0001249) Intellectual disability 12% [HPO:skoehler] 1089 / 7739
38
 (HPO:0100013) Neoplasm of the breast Very frequent [Orphanet] 18 / 7739
39
 (HPO:0010619) Fibroadenoma of the breast 4 / 7739
40
 (HPO:0003002) Breast carcinoma 23 / 7739
41
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
42
 (HPO:0100646) Thyroiditis 11 / 7739
43
 (HPO:0000854) Thyroid adenoma 6 / 7739
44
 (HPO:0000853) Goiter Very frequent [Orphanet] 39 / 7739
45
 (HPO:0000836) Hyperthyroidism 25 / 7739
46
 (HPO:0000821) Hypothyroidism 141 / 7739
47
 (HPO:0100031) Neoplasm of the thyroid gland 15 / 7739
48
 (HPO:0000820) Abnormality of the thyroid gland Frequent [Orphanet] 19 / 7739
49
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
50
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
51
 (HPO:0012062) Bone cyst Occasional [Orphanet] 19 / 7739
52
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
53
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
54
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
55
 (HPO:0200008) Intestinal polyposis Very frequent [Orphanet] 23 / 7739
56
 (HPO:0004390) Hamartomatous polyposis 9 / 7739
57
 (HPO:0002253) Colonic diverticula 12 / 7739
58
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
59
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
60
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
61
 (HPO:0010609) Skin tags 12 / 7739
62
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
63
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
64
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
65
 (HPO:0010720) Abnormal hair pattern Frequent [Orphanet] 14 / 7739
66
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
67
 (HPO:0100579) Mucosal telangiectasiae Frequent [Orphanet] 10 / 7739
68
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
69
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
70
 (HPO:0001048) Cavernous hemangioma Frequent [Orphanet] 28 / 7739
71
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
72
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
73
 (HPO:0002861) Melanoma Occasional [Orphanet] 18 / 7739
74
 (HPO:0001012) Multiple lipomas Frequent [Orphanet] 43 / 7739
75
 (HPO:0002664) Neoplasm Frequent [Orphanet] 111 / 7739
76
 (HPO:0012740) Papilloma Very frequent [Orphanet] 17 / 7739
77
 (HPO:0003581) Adult onset 117 / 7739
78
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
79
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
80
 (HPO:0012871) Varicocele 4 / 7739
81
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
82
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: