NMTC4
MCID: THY100
MIFTS: 18

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 72 29 6
Nmtc4 57 72
Cancer, Thyroid, Nonmedullary, Type 4 39
Thyroid Cancer, Non-Medullary, 4 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
thyroid cancer, nonmedullary, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616534
OMIM Phenotypic Series 57 PS188550
MeSH 44 D013964
SNOMED-CT via HPO 68 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) (Updated 05-Apr-2021)

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 : 72 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

Human phenotypes related to Thyroid Cancer, Nonmedullary, 4:

31
# Description HPO Frequency HPO Source Accession
1 goiter 31 HP:0000853
2 non-medullary thyroid carcinoma 31 HP:0040198

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
nonmedullary thyroid carcinoma (papillary, follicular, or tall cell variants)
goiter, nodular

Clinical features from OMIM®:

616534 (Updated 05-Apr-2021)

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

Genetic tests related to Thyroid Cancer, Nonmedullary, 4:

# Genetic test Affiliating Genes
1 Thyroid Cancer, Nonmedullary, 4 29 FOXE1

Anatomical Context for Thyroid Cancer, Nonmedullary, 4

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

40
Thyroid

Publications for Thyroid Cancer, Nonmedullary, 4

Articles related to Thyroid Cancer, Nonmedullary, 4:

# Title Authors PMID Year
1
Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). 57 6
25381600 2015
2
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. 57
21981779 2011
3
The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. 57
20350937 2010
4
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. 57
19198613 2009

Variations for Thyroid Cancer, Nonmedullary, 4

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXE1 NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) SNV Pathogenic 208453 rs538912281 GRCh37: 9:100616939-100616939
GRCh38: 9:97854657-97854657

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

72
# Symbol AA change Variation ID SNP ID
1 FOXE1 p.Ala248Gly VAR_075981 rs538912281

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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