MCID: THY106
MIFTS: 26

Thyroglossal Duct Cyst, Familial

Categories: Rare diseases, Oral diseases, Endocrine diseases, Fetal diseases, Genetic 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 thyroiditis. An important gene associated with Thyroglossal Duct Cyst, Familial is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid and lymph node.

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 24)
# Related Disease Score Top Affiliating Genes
1 papillary carcinoma 10.8
2 thyroiditis 10.6
3 adenocarcinoma 10.4
4 papillary adenocarcinoma 10.4
5 thyroid cancer, nonmedullary, 1 10.3
6 cervicitis 10.3
7 laryngomalacia 10.1
8 adenosquamous carcinoma 10.1
9 apnea, obstructive sleep 9.9
10 myxedema 9.9
11 sarcoma, synovial 9.9
12 sleep apnea 9.9
13 sarcoma 9.9
14 coccidioidomycosis 9.9
15 hypothyroidism 9.9
16 keratosis 9.9
17 squamous cell carcinoma 9.9
18 thyroid cancer 9.9
19 struma ovarii 9.9
20 monophasic synovial sarcoma 9.9
21 follicular adenoma 9.9
22 adenoma 9.9
23 inverted follicular keratosis 9.9
24 pulmonary sequestration 9.9

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, Lymph Node

Publications for Thyroglossal Duct Cyst, Familial

Articles related to Thyroglossal Duct Cyst, Familial:

(show top 50) (show all 69)
# Title Authors Year
1
Papillary carcinoma in thyroglossal duct cyst: Diagnosis by fine-needle aspiration cytology and immunocytochemistry. ( 29737627 )
2018
2
Invasive Thyroglossal Duct Cyst Papillary Carcinoma: A Case Report and Review of the Literature. ( 29950556 )
2018
3
18F-FDG PET/CT of Papillary Carcinoma in a Lateral Thyroglossal Duct Cyst. ( 28525461 )
2017
4
Papillary Carcinoma Arising in a Thyroglossal Duct Cyst. ( 28492409 )
2017
5
Papillary carcinoma in thyroglossal duct cyst: Two case reports and review of the literature. ( 26991228 )
2016
6
An Incidental Primary Papillary Carcinoma Arising in a Thyroglossal Duct Cyst: Report of a Rare Finding. ( 27013817 )
2016
7
Papillary Carcinoma Within a Thyroglossal Duct Cyst in a 17-Year-Old Child. ( 27054418 )
2016
8
Adenosquamous carcinoma arising from a thyroglossal duct cyst: A case report. ( 27073536 )
2016
9
Does Papillary Carcinoma of Thyroglossal Duct Cyst Develop De Novo? ( 26351606 )
2015
10
Rare case of external dental fistula of the submental region misdiagnosed as inverted follicular keratosis and thyroglossal duct cyst. ( 26413920 )
2015
11
Papillary Carcinoma Occurrence in a Thyroglossal Duct Cyst with Synchronous Papillary Thyroid Carcinoma without Cervical Lymph Node Metastasis: Two-Cases Report. ( 25785223 )
2015
12
Thyroglossal duct cyst accompanied by laryngomalacia and pulmonary sequestration. ( 24894942 )
2014
13
Papillary carcinoma in thyroglossal duct cyst with uninvolved thyroid. Case report and review of the literature. ( 25395963 )
2014
14
Incidental thyroid papillary carcinoma in a thyroglossal duct cyst - management dilemmas. ( 23124070 )
2013
15
Papillary carcinoma in a thyroglossal duct cyst with concurrent thyroid micro-carcinoma and neck nodal metastases. ( 24426727 )
2013
16
Papillary carcinoma arising from thyroglossal duct cyst with thyroid and lateral neck metastasis. ( 23807380 )
2013
17
Radiology quiz case 2: papillary carcinoma in a thyroglossal duct cyst (TGDC). ( 23329105 )
2013
18
Malignant thyroglossal duct cyst with synchronous occult thyroid gland papillary carcinoma. ( 24083187 )
2013
19
Papillary carcinoma arising in thyroglossal duct cyst in the lateral neck. ( 23920319 )
2013
20
Delayed diagnosis of hypothyroidism following excision of a thyroglossal duct cyst. ( 23158024 )
2013
21
Papillary carcinoma within a thyroglossal duct cyst: significance of a central solid component on ultrasound imaging. ( 24210780 )
2013
22
A thyroglossal duct cyst causing obstructive sleep apnea in adult. ( 24069524 )
2013
23
Papillary thyroid carcinoma arising from a thyroglossal duct cyst: a single institution experience. ( 23318645 )
2013
24
Papillary carcinoma in a thyroglossal duct cyst: management and algorithm for treatment of a rare entity. ( 22571083 )
2012
25
Papillary thyroid carcinoma arising from a primary thyroglossal duct cyst with cervical node metastases. ( 22300249 )
2012
26
Papillary thyroid carcinoma of thyroglossal duct cyst: a retrospective analysis. ( 24006829 )
2012
27
Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst. ( 22276601 )
2012
28
Robot-assisted Sistrunk's operation, total thyroidectomy, and neck dissection via a transaxillary and retroauricular (TARA) approach in papillary carcinoma arising in thyroglossal duct cyst and thyroid gland. ( 23070784 )
2012
29
Papillary carcinoma with extensive squamous metaplasia arising from thyroglossal duct cyst in an 11-year-old girl: significance of differentiation from squamous cell carcinoma: a case report. ( 21496518 )
2011
30
Adenosquamous carcinoma arising in a thyroglossal duct cyst: report of a case. ( 21431487 )
2011
31
Primary thyroglossal duct cyst papillary carcinoma with cervical node metastasis. ( 22191409 )
2011
32
F-18 FDG uptake in papillary carcinoma arising from thyroglossal duct cyst. ( 21220982 )
2011
33
Thyroglossal duct cyst papillary carcinoma. ( 21526005 )
2011
34
Papillary carcinoma of the thyroglossal duct cyst: report of two cases. ( 21103641 )
2010
35
Papillary carcinoma arising in a submental-intralingual thyroglossal duct cyst. ( 21808454 )
2010
36
Papillary carcinoma arising from a thyroglossal duct cyst. ( 19881066 )
2009
37
Synchronous papillary carcinoma in thyroglossal duct cyst and thyroid gland: case report and review of literature. ( 19340869 )
2009
38
Invasive thyroglossal duct cyst papillary carcinoma: a case report. ( 20062737 )
2009
39
Outcome of primary papillary carcinoma of thyroglossal duct cyst with local infiltration to soft tissues and uninvolved thyroid. ( 19346653 )
2009
40
Papillary carcinoma in a supra hyoid thyroglossal duct cyst - an unusual presentation. ( 23120611 )
2009
41
Papillary carcinoma arising in a thyroglossal duct cyst: case report and discussion of management modalities. ( 17668227 )
2008
42
Lingual thyroglossal duct cyst in newborns: previously misdiagnosed as laryngomalacia. ( 18082898 )
2008
43
Papillary carcinoma arising in a thyroglossal duct cyst with associated microcarcinoma of the thyroid and without cervical lymph node metastasis: a case report. ( 18257934 )
2008
44
Papillary carcinoma of a thyroglossal duct cyst in a patient with thyroid hemiagenesis: effectiveness of conservative surgical treatment. ( 18558601 )
2008
45
Papillary carcinoma in a thyroglossal duct cyst. ( 18548990 )
2008
46
A rare case of incidentally diagnosed primary papillary carcinoma of thyroglossal duct cyst. ( 23132967 )
2007
47
An unusual thyroglossal duct cyst infection with coccidioidomycosis. ( 17376355 )
2007
48
Papillary carcinoma arising in a thyroglossal duct cyst; two case reports and review of the literature. ( 18402125 )
2007
49
Papillary carcinoma in a thyroglossal duct cyst. ( 16761493 )
2006
50
Papillary thyroid carcinoma in thyroglossal duct cyst: case reports and literature review. ( 16845854 )
2006

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

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