NMTC5
MCID: THY101
MIFTS: 18

Thyroid Cancer, Nonmedullary, 5 (NMTC5)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thyroid Cancer, Nonmedullary, 5

MalaCards integrated aliases for Thyroid Cancer, Nonmedullary, 5:

Name: Thyroid Cancer, Nonmedullary, 5 57 72 29
Nmtc5 57 72
Thyroid Cancer, Nonmedullary, 5, Susceptibility to 6
Cancer, Thyroid, Nonmedullary, Type 5 39
Thyroid Cancer, Non-Medullary, 5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated september 2015)


HPO:

31
thyroid cancer, nonmedullary, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616535
OMIM Phenotypic Series 57 PS188550
MeSH 44 D013964
SNOMED-CT via HPO 68 263681008

Summaries for Thyroid Cancer, Nonmedullary, 5

OMIM® : 57 Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by Gara et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550). (616535) (Updated 20-May-2021)

MalaCards based summary : Thyroid Cancer, Nonmedullary, 5, is also known as nmtc5. An important gene associated with Thyroid Cancer, Nonmedullary, 5 is HABP2 (Hyaluronan Binding Protein 2). Affiliated tissues include thyroid, and related phenotype is non-medullary thyroid carcinoma.

UniProtKB/Swiss-Prot : 72 Thyroid cancer, non-medullary, 5: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.

Related Diseases for Thyroid Cancer, Nonmedullary, 5

Symptoms & Phenotypes for Thyroid Cancer, Nonmedullary, 5

Human phenotypes related to Thyroid Cancer, Nonmedullary, 5:

31
# Description HPO Frequency HPO Source Accession
1 non-medullary thyroid carcinoma 31 HP:0040198

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
nonmedullary thyroid carcinoma (papillary and follicular)

Clinical features from OMIM®:

616535 (Updated 20-May-2021)

Drugs & Therapeutics for Thyroid Cancer, Nonmedullary, 5

Search Clinical Trials , NIH Clinical Center for Thyroid Cancer, Nonmedullary, 5

Genetic Tests for Thyroid Cancer, Nonmedullary, 5

Genetic tests related to Thyroid Cancer, Nonmedullary, 5:

# Genetic test Affiliating Genes
1 Thyroid Cancer, Nonmedullary, 5 29 HABP2

Anatomical Context for Thyroid Cancer, Nonmedullary, 5

MalaCards organs/tissues related to Thyroid Cancer, Nonmedullary, 5:

40
Thyroid

Publications for Thyroid Cancer, Nonmedullary, 5

Articles related to Thyroid Cancer, Nonmedullary, 5:

# Title Authors PMID Year
1
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6 57
26581003 2015
2
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6 57
26581004 2015
3
HABP2 Mutation and Nonmedullary Thyroid Cancer. 57 6
26581001 2015
4
HABP2 Mutation and Nonmedullary Thyroid Cancer. 57 6
26581005 2015
5
Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. 6 57
26222560 2015
6
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581002 2015
7
Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. 6
15486068 2005
8
Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis. 6
12578864 2003
9
The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). 6
12138371 2002

Variations for Thyroid Cancer, Nonmedullary, 5

ClinVar genetic disease variations for Thyroid Cancer, Nonmedullary, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HABP2 NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) SNV risk factor 5974 rs7080536 GRCh37: 10:115348046-115348046
GRCh38: 10:113588287-113588287

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Cancer, Nonmedullary, 5:

72
# Symbol AA change Variation ID SNP ID
1 HABP2 p.Gly534Glu VAR_023401 rs7080536

Expression for Thyroid Cancer, Nonmedullary, 5

Search GEO for disease gene expression data for Thyroid Cancer, Nonmedullary, 5.

Pathways for Thyroid Cancer, Nonmedullary, 5

GO Terms for Thyroid Cancer, Nonmedullary, 5

Sources for Thyroid Cancer, Nonmedullary, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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