MCID: CWD007
MIFTS: 22

Cowden Syndrome 3

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Cowden Syndrome 3

MalaCards integrated aliases for Cowden Syndrome 3:

Name: Cowden Syndrome 3 57 75 29 13 6 73
Cws3 57 75
Cowden Syndrome, Type 3 40

Classifications:



External Ids:

OMIM 57 615106
MeSH 44 D006223
UMLS 73 C3554516

Summaries for Cowden Syndrome 3

UniProtKB/Swiss-Prot : 75 Cowden syndrome 3: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.

MalaCards based summary : Cowden Syndrome 3, also known as cws3, is related to paragangliomas 1 and paraganglioma and gastric stromal sarcoma. An important gene associated with Cowden Syndrome 3 is SDHD (Succinate Dehydrogenase Complex Subunit D). Affiliated tissues include thyroid, skin and breast, and related phenotypes are uterine leiomyoma and abnormality of mitochondrial metabolism

Description from OMIM: 615106

Related Diseases for Cowden Syndrome 3

Diseases in the Cowden Disease family:

Cowden Syndrome 1 Cowden Syndrome 2
Cowden Syndrome 3 Cowden Syndrome 4
Cowden Syndrome 5 Cowden Syndrome 6
Cowden Syndrome 7

Diseases related to Cowden Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 9.3 SDHD TIMM8B
2 paraganglioma and gastric stromal sarcoma 9.2 SDHD TIMM8B
3 hereditary paraganglioma-pheochromocytoma syndromes 9.0 SDHD TIMM8B

Symptoms & Phenotypes for Cowden Syndrome 3

Clinical features from OMIM:

615106

Human phenotypes related to Cowden Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 uterine leiomyoma 32 HP:0000131
2 abnormality of mitochondrial metabolism 32 HP:0003287
3 renal cell carcinoma 32 HP:0005584
4 neoplasm of the thyroid gland 32 HP:0100031

Drugs & Therapeutics for Cowden Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 3

Genetic Tests for Cowden Syndrome 3

Genetic tests related to Cowden Syndrome 3:

# Genetic test Affiliating Genes
1 Cowden Syndrome 3 29 SDHD

Anatomical Context for Cowden Syndrome 3

MalaCards organs/tissues related to Cowden Syndrome 3:

41
Thyroid, Skin, Breast, Colon

Publications for Cowden Syndrome 3

Variations for Cowden Syndrome 3

ClinVar genetic disease variations for Cowden Syndrome 3:

6
(show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
2 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
3 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
4 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
5 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
6 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
7 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
8 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
9 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
10 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
11 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
12 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh38 Chromosome 11, 112087933: 112087933
13 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
14 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
15 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh37 Chromosome 11, 111965693: 111965693
16 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh38 Chromosome 11, 112094969: 112094969
17 SDHD NM_003002.3(SDHD): c.158C> T (p.Pro53Leu) single nucleotide variant Uncertain significance rs149516118 GRCh37 Chromosome 11, 111958686: 111958686
18 SDHD NM_003002.3(SDHD): c.158C> T (p.Pro53Leu) single nucleotide variant Uncertain significance rs149516118 GRCh38 Chromosome 11, 112087962: 112087962
19 SDHD NM_003002.3(SDHD): c.282C> G (p.Ser94=) single nucleotide variant Likely benign rs781182616 GRCh37 Chromosome 11, 111959703: 111959703
20 SDHD NM_003002.3(SDHD): c.282C> G (p.Ser94=) single nucleotide variant Likely benign rs781182616 GRCh38 Chromosome 11, 112088979: 112088979
21 SDHD NM_003002.3(SDHD): c.312C> T (p.His104=) single nucleotide variant Benign/Likely benign rs61734352 GRCh37 Chromosome 11, 111959733: 111959733
22 SDHD NM_003002.3(SDHD): c.312C> T (p.His104=) single nucleotide variant Benign/Likely benign rs61734352 GRCh38 Chromosome 11, 112089009: 112089009
23 SDHD NM_001276506.1(SDHD): c.118A> C (p.Ile40Leu) single nucleotide variant Uncertain significance rs146276662 GRCh38 Chromosome 11, 112087922: 112087922
24 SDHD NM_001276506.1(SDHD): c.118A> C (p.Ile40Leu) single nucleotide variant Uncertain significance rs146276662 GRCh37 Chromosome 11, 111958646: 111958646
25 SDHD NM_003002.3(SDHD): c.320T> G (p.Leu107Arg) single nucleotide variant Uncertain significance rs876658477 GRCh37 Chromosome 11, 111965534: 111965534
26 SDHD NM_003002.3(SDHD): c.320T> G (p.Leu107Arg) single nucleotide variant Uncertain significance rs876658477 GRCh38 Chromosome 11, 112094810: 112094810
27 SDHD NM_003002.3(SDHD): c.18G> A (p.Arg6=) single nucleotide variant Likely benign rs200895313 GRCh38 Chromosome 11, 112086925: 112086925
28 SDHD NM_003002.3(SDHD): c.18G> A (p.Arg6=) single nucleotide variant Likely benign rs200895313 GRCh37 Chromosome 11, 111957649: 111957649
29 SDHD NM_003002.3(SDHD): c.42A> G (p.Leu14=) single nucleotide variant Likely benign rs878854593 GRCh38 Chromosome 11, 112086949: 112086949
30 SDHD NM_003002.3(SDHD): c.42A> G (p.Leu14=) single nucleotide variant Likely benign rs878854593 GRCh37 Chromosome 11, 111957673: 111957673
31 SDHD NM_003002.3(SDHD): c.51A> C (p.Arg17=) single nucleotide variant Uncertain significance rs199890548 GRCh38 Chromosome 11, 112086958: 112086958
32 SDHD NM_003002.3(SDHD): c.51A> C (p.Arg17=) single nucleotide variant Uncertain significance rs199890548 GRCh37 Chromosome 11, 111957682: 111957682
33 SDHD NM_003002.3(SDHD): c.73G> T (p.Val25Leu) single nucleotide variant Uncertain significance rs878854597 GRCh38 Chromosome 11, 112087877: 112087877
34 SDHD NM_003002.3(SDHD): c.73G> T (p.Val25Leu) single nucleotide variant Uncertain significance rs878854597 GRCh37 Chromosome 11, 111958601: 111958601
35 SDHD NM_003002.3(SDHD): c.209G> A (p.Arg70Lys) single nucleotide variant Uncertain significance rs755047928 GRCh37 Chromosome 11, 111959630: 111959630
36 SDHD NM_003002.3(SDHD): c.209G> A (p.Arg70Lys) single nucleotide variant Uncertain significance rs755047928 GRCh38 Chromosome 11, 112088906: 112088906
37 SDHD NM_003002.3(SDHD): c.248C> T (p.Ala83Val) single nucleotide variant Uncertain significance rs370165653 GRCh38 Chromosome 11, 112088945: 112088945
38 SDHD NM_003002.3(SDHD): c.248C> T (p.Ala83Val) single nucleotide variant Uncertain significance rs370165653 GRCh37 Chromosome 11, 111959669: 111959669
39 SDHD NM_003002.3(SDHD): c.282C> T (p.Ser94=) single nucleotide variant Likely benign rs781182616 GRCh38 Chromosome 11, 112088979: 112088979
40 SDHD NM_003002.3(SDHD): c.282C> T (p.Ser94=) single nucleotide variant Likely benign rs781182616 GRCh37 Chromosome 11, 111959703: 111959703
41 SDHD NM_003002.3(SDHD): c.318C> A (p.Gly106=) single nucleotide variant Likely benign rs878854592 GRCh38 Chromosome 11, 112094808: 112094808
42 SDHD NM_003002.3(SDHD): c.318C> A (p.Gly106=) single nucleotide variant Likely benign rs878854592 GRCh37 Chromosome 11, 111965532: 111965532
43 SDHD NM_003002.3(SDHD): c.335C> T (p.Thr112Ile) single nucleotide variant Uncertain significance rs199869408 GRCh38 Chromosome 11, 112094825: 112094825
44 SDHD NM_003002.3(SDHD): c.335C> T (p.Thr112Ile) single nucleotide variant Uncertain significance rs199869408 GRCh37 Chromosome 11, 111965549: 111965549
45 SDHD NM_003002.3(SDHD): c.375G> T (p.Lys125Asn) single nucleotide variant Uncertain significance rs878854595 GRCh38 Chromosome 11, 112094865: 112094865
46 SDHD NM_003002.3(SDHD): c.375G> T (p.Lys125Asn) single nucleotide variant Uncertain significance rs878854595 GRCh37 Chromosome 11, 111965589: 111965589
47 SDHD NM_003002.3(SDHD): c.453A> C (p.Lys151Asn) single nucleotide variant Uncertain significance rs761953172 GRCh38 Chromosome 11, 112094943: 112094943
48 SDHD NM_003002.3(SDHD): c.453A> C (p.Lys151Asn) single nucleotide variant Uncertain significance rs761953172 GRCh37 Chromosome 11, 111965667: 111965667
49 SDHD NM_003002.3(SDHD): c.473_*3dupAGCTCTGACCT duplication Uncertain significance rs878854596 GRCh38 Chromosome 11, 112094963: 112094973
50 SDHD NM_003002.3(SDHD): c.473_*3dupAGCTCTGACCT duplication Uncertain significance rs878854596 GRCh37 Chromosome 11, 111965687: 111965697

Expression for Cowden Syndrome 3

Search GEO for disease gene expression data for Cowden Syndrome 3.

Pathways for Cowden Syndrome 3

GO Terms for Cowden Syndrome 3

Cellular components related to Cowden Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.62 SDHD TIMM8B

Sources for Cowden Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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