MCID: THY106
MIFTS: 20

Thyroglossal Duct Cyst, Familial

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Thyroglossal Duct Cyst, Familial

MalaCards integrated aliases for Thyroglossal Duct Cyst, Familial:

Name: Thyroglossal Duct Cyst, Familial 57
Familial Thyroglossal Duct Cyst 53 59 73
Hereditary Thyroglossal Duct Cysts 53
Thyroglossal Duct Cysts Familial 53
Thyroglossal Duct Cysts 53
Thyroglossal Duct Cyst 55
Thyroglossal Cyst 73

Classifications:



External Ids:

OMIM 57 188455
Orphanet 59 ORPHA93953
UMLS via Orphanet 74 C3495590
ICD10 via Orphanet 34 Q89.2

Summaries for Thyroglossal Duct Cyst, Familial

NIH Rare Diseases : 53 Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population. They usually present in children, around 6 years of age, but rarely, they may present in adulthood. They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness. TDCs are caused by abnormal development of the thyroid gland in fetal development. The cause of this abnormal development is largely not known and usually sporadic; however, in rare circumstances TDCs can be inherited. Familial TDC are commonly inherited in an autosomal dominant pattern with rare reports of autosomal recessive inheritance. Treatment involves surgery to remove the cyst (mass).

MalaCards based summary : Thyroglossal Duct Cyst, Familial, also known as familial thyroglossal duct cyst, is related to papillary carcinoma and thyroid cancer, nonmedullary, 1. An important gene associated with Thyroglossal Duct Cyst, Familial is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid.

OMIM : 57 Thyroglossal duct cysts are common benign cervical masses. They represent a remnant of the thyroglossal duct that fails to regress during fetal development. Nearly all cases present sporadically in young children as slowly enlarging midline neck mass (summary by Greinwald et al., 1996). (188455)

Related Diseases for Thyroglossal Duct Cyst, Familial

Diseases related to Thyroglossal Duct Cyst, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 papillary carcinoma 11.0
2 thyroid cancer, nonmedullary, 1 10.5
3 adenocarcinoma 10.5
4 papillary adenocarcinoma 10.5
5 thyroid cancer 10.4
6 adenoma 10.3
7 laryngomalacia 10.2
8 squamous cell carcinoma 10.2
9 adenosquamous carcinoma 10.2
10 branchial cleft anomalies 10.1
11 thyroid carcinoma, familial medullary 10.1
12 thyroid cancer, nonmedullary, 2 10.1
13 myxedema 10.1
14 sarcoma, synovial 10.1
15 papillary thyroid microcarcinoma 10.1
16 cysticercosis 10.1
17 sarcoma 10.1
18 patulous eustachian tube 10.1
19 coccidioidomycosis 10.1
20 hypothyroidism 10.1
21 keratosis 10.1
22 struma ovarii 10.1
23 dermoid cyst 10.1
24 monophasic synovial sarcoma 10.1
25 follicular adenoma 10.1
26 inverted follicular keratosis 10.1
27 trichinosis 10.1
28 pulmonary sequestration 10.1
29 differentiated thyroid carcinoma 10.1

Graphical network of the top 20 diseases related to Thyroglossal Duct Cyst, Familial:



Diseases related to Thyroglossal Duct Cyst, Familial

Symptoms & Phenotypes for Thyroglossal Duct Cyst, Familial

Clinical features from OMIM:

188455

Drugs & Therapeutics for Thyroglossal Duct Cyst, Familial

Search Clinical Trials , NIH Clinical Center for Thyroglossal Duct Cyst, Familial

Genetic Tests for Thyroglossal Duct Cyst, Familial

Anatomical Context for Thyroglossal Duct Cyst, Familial

MalaCards organs/tissues related to Thyroglossal Duct Cyst, Familial:

41
Thyroid

Publications for Thyroglossal Duct Cyst, Familial

Articles related to Thyroglossal Duct Cyst, Familial:

# Title Authors Year
1
Familial thyroglossal duct cyst. ( 8448898 )
1993

Variations for Thyroglossal Duct Cyst, Familial

Expression for Thyroglossal Duct Cyst, Familial

Search GEO for disease gene expression data for Thyroglossal Duct Cyst, Familial.

Pathways for Thyroglossal Duct Cyst, Familial

GO Terms for Thyroglossal Duct Cyst, Familial

Sources for Thyroglossal Duct Cyst, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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31 HMDB
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46 MGI
49 NCI
50 NCIt
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55 Novoseek
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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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