NMTC4
MCID: THY100
MIFTS: 16

Thyroid Cancer, Nonmedullary, 4 (NMTC4)

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

Aliases & Classifications for Thyroid Cancer, Nonmedullary, 4

MalaCards integrated aliases for Thyroid Cancer, Nonmedullary, 4:

Name: Thyroid Cancer, Nonmedullary, 4 57 75 6
Nmtc4 57 75
Cancer, Thyroid, Nonmedullary, Type 4 40
Thyroid Cancer, Non-Medullary, 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family and one sporadic case of portuguese descent have been reported (last curated september 2015)


HPO:

32
thyroid cancer, nonmedullary, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616534
MeSH 44 D013964
SNOMED-CT via HPO 69 263681008 3716002

Summaries for Thyroid Cancer, Nonmedullary, 4

OMIM : 57 Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by Pereira et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550). (616534)

MalaCards based summary : Thyroid Cancer, Nonmedullary, 4, is also known as nmtc4. An important gene associated with Thyroid Cancer, Nonmedullary, 4 is FOXE1 (Forkhead Box E1). Affiliated tissues include thyroid, and related phenotypes are goiter and non-medullary thyroid carcinoma

UniProtKB/Swiss-Prot : 75 Thyroid cancer, non-medullary, 4: 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, 4

Symptoms & Phenotypes for Thyroid Cancer, Nonmedullary, 4

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
nonmedullary thyroid carcinoma (papillary, follicular, or tall cell variants)
goiter, nodular


Clinical features from OMIM:

616534

Human phenotypes related to Thyroid Cancer, Nonmedullary, 4:

32
# Description HPO Frequency HPO Source Accession
1 goiter 32 HP:0000853
2 non-medullary thyroid carcinoma 32 HP:0040198

Drugs & Therapeutics for Thyroid Cancer, Nonmedullary, 4

Search Clinical Trials , NIH Clinical Center for Thyroid Cancer, Nonmedullary, 4

Genetic Tests for Thyroid Cancer, Nonmedullary, 4

Anatomical Context for Thyroid Cancer, Nonmedullary, 4

MalaCards organs/tissues related to Thyroid Cancer, Nonmedullary, 4:

41
Thyroid

Publications for Thyroid Cancer, Nonmedullary, 4

Variations for Thyroid Cancer, Nonmedullary, 4

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Cancer, Nonmedullary, 4:

75
# Symbol AA change Variation ID SNP ID
1 FOXE1 p.Ala248Gly VAR_075981 rs538912281

ClinVar genetic disease variations for Thyroid Cancer, Nonmedullary, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXE1 NM_004473.3(FOXE1): c.743C> G (p.Ala248Gly) single nucleotide variant Pathogenic rs538912281 GRCh37 Chromosome 9, 100616939: 100616939
2 FOXE1 NM_004473.3(FOXE1): c.743C> G (p.Ala248Gly) single nucleotide variant Pathogenic rs538912281 GRCh38 Chromosome 9, 97854657: 97854657

Expression for Thyroid Cancer, Nonmedullary, 4

Search GEO for disease gene expression data for Thyroid Cancer, Nonmedullary, 4.

Pathways for Thyroid Cancer, Nonmedullary, 4

GO Terms for Thyroid Cancer, Nonmedullary, 4

Sources for Thyroid Cancer, Nonmedullary, 4

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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