NMTC5
MCID: THY101
MIFTS: 16

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 75
Nmtc5 57 75
Thyroid Cancer, Nonmedullary, 5, Susceptibility to 6
Cancer, Thyroid, Nonmedullary, Type 5 40
Thyroid Cancer, Non-Medullary, 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
thyroid cancer, nonmedullary, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616535
MeSH 44 D013964
SNOMED-CT via HPO 69 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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
nonmedullary thyroid carcinoma (papillary and follicular)


Clinical features from OMIM:

616535

Human phenotypes related to Thyroid Cancer, Nonmedullary, 5:

32
# Description HPO Frequency HPO Source Accession
1 non-medullary thyroid carcinoma 32 HP:0040198

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

Anatomical Context for Thyroid Cancer, Nonmedullary, 5

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

41
Thyroid

Publications for Thyroid Cancer, Nonmedullary, 5

Variations for Thyroid Cancer, Nonmedullary, 5

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

75
# Symbol AA change Variation ID SNP ID
1 HABP2 p.Gly534Glu VAR_023401 rs7080536

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HABP2 NM_004132.4(HABP2): c.1601G> A (p.Gly534Glu) single nucleotide variant Likely benign rs7080536 GRCh37 Chromosome 10, 115348046: 115348046
2 HABP2 NM_004132.4(HABP2): c.1601G> A (p.Gly534Glu) single nucleotide variant Likely benign rs7080536 GRCh38 Chromosome 10, 113588287: 113588287

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 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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