COWDEN SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr:
OMIM Id: 615108
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000034) Hydrocele testis 18 / 7739
2
 (HPO:0000138) Ovarian cyst 25 / 7739
3
 (HPO:0006740) Transitional cell carcinoma of the bladder 7 / 7739
4
 (HPO:0004481) Progressive macrocephaly 8 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000221) Furrowed tongue 24 / 7739
7
 (HPO:0000160) Narrow mouth 188 / 7739
8
 (HPO:0000218) High palate 356 / 7739
9
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
10
 (HPO:0000518) Cataract 454 / 7739
11
 (HPO:0001102) Angioid streaks of the retina 11 / 7739
12
 (HPO:0000545) Myopia 286 / 7739
13
 (HPO:0000365) Hearing impairment 539 / 7739
14
 (HPO:0002858) Meningioma 22 / 7739
15
 (HPO:0001249) Intellectual disability 12% [HPO:skoehler] 1089 / 7739
16
 (HPO:0001250) Seizures 1245 / 7739
17
 (HPO:0002080) Intention tremor 44 / 7739
18
 (HPO:0001256) Intellectual disability, mild 12 % [HPO:skoehler] 141 / 7739
19
 (HPO:0003002) Breast carcinoma 23 / 7739
20
 (HPO:0010619) Fibroadenoma of the breast 4 / 7739
21
 (HPO:0000771) Gynecomastia 53 / 7739
22
 (HPO:0000836) Hyperthyroidism 25 / 7739
23
 (HPO:0100646) Thyroiditis 11 / 7739
24
 (HPO:0000821) Hypothyroidism 141 / 7739
25
 (HPO:0000853) Goiter 39 / 7739
26
 (HPO:0000854) Thyroid adenoma 6 / 7739
27
 (HPO:0002808) Kyphosis 289 / 7739
28
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
29
 (HPO:0002650) Scoliosis 705 / 7739
30
 (HPO:0000767) Pectus excavatum 244 / 7739
31
 (HPO:0002253) Colonic diverticula 12 / 7739
32
 (HPO:0004390) Hamartomatous polyposis 9 / 7739
33
 (HPO:0001031) Subcutaneous lipoma 112 / 7739
34
 (HPO:0010609) Skin tags 12 / 7739
35
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
36
 (HPO:0003581) Adult onset 117 / 7739
37
 (HPO:0012871) Varicocele 4 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: