MCID: THY106
MIFTS: 29

Thyroglossal Duct Cyst, Familial

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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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 19 58 71
Thyroglossal Duct Cyst 53 16
Hereditary Thyroglossal Duct Cysts 19
Thyroglossal Duct Cysts Familial 19
Thyroglossal Duct Cysts 19
Thyroglossal Cyst 71

Characteristics:


Prevelance:

Familial Thyroglossal Duct Cyst: <1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 188455
ICD10 via Orphanet 32 Q89.2
UMLS via Orphanet 72 C3495590
Orphanet 58 ORPHA93953
UMLS 71 C0040124 C3495590

Summaries for Thyroglossal Duct Cyst, Familial

GARD: 19 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 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.

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

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) (Updated 08-Dec-2022)

Orphanet: 58 A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.

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 top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 thyroid carcinoma 10.6
2 papillary carcinoma 10.6
3 thyroid cancer, nonmedullary, 1 10.6
4 squamous cell carcinoma 10.5
5 differentiated thyroid carcinoma 10.5
6 hypothyroidism, congenital, nongoitrous, 2 10.4
7 hashimoto thyroiditis 10.4
8 laryngomalacia 10.4
9 benign teratoma 10.4
10 dermoid cyst of ovary 10.4
11 mucocele of salivary gland 10.3
12 apnea, obstructive sleep 10.3
13 graves disease 1 10.3
14 papillary thyroid microcarcinoma 10.3
15 epidermoid cysts 10.2
16 goiter 10.2
17 hypothyroidism 10.2
18 papillary adenocarcinoma 10.2
19 adenoma 10.2
20 lymphoma, hodgkin, classic 10.2
21 multinodular goiter 10.2
22 supraglottis cancer 10.2
23 larynx cancer 10.2
24 thyroid gland papillary carcinoma 10.2
25 adenosquamous carcinoma 10.2
26 thyroid gland disease 10.2
27 hyperthyroidism 10.2
28 rare tumor 10.2
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
30 branchial cleft anomalies 10.1
31 thyroid carcinoma, familial medullary 10.1
32 polycystic liver disease 1 with or without kidney cysts 10.1
33 lung cancer 10.1
34 leukemia, acute lymphoblastic 3 10.1
35 b-lymphoblastic leukemia/lymphoma 10.1
36 head and neck cancer 10.1
37 tinea unguium 10.1
38 nodular goiter 10.1
39 postsurgical hypothyroidism 10.1
40 lymphangioma 10.1
41 thyroid gland cancer 10.1
42 struma ovarii 10.1
43 breast ductal carcinoma 10.1
44 teratoma 10.1
45 cellulitis 10.1
46 thyroid gland follicular carcinoma 10.1
47 thyroid gland medullary carcinoma 10.1
48 thyroiditis 10.1
49 47 xxx syndrome 10.1
50 49, xxxxy syndrome 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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Thyroglossal Duct Cyst, Familial

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Computer Aided Tool for Diagnosis of Neck Masses in Children Recruiting NCT05187923

Search NIH Clinical Center for Thyroglossal Duct Cyst, Familial

Genetic Tests for Thyroglossal Duct Cyst, Familial

Anatomical Context for Thyroglossal Duct Cyst, Familial

Organs/tissues related to Thyroglossal Duct Cyst, Familial:

MalaCards : Thyroid, Lymph Node, Tongue, Bone, Tonsil, Trachea, Thymus

Publications for Thyroglossal Duct Cyst, Familial

Articles related to Thyroglossal Duct Cyst, Familial:

(show top 50) (show all 905)
# Title Authors PMID Year
1
Hereditary thyroglossal duct cysts. 62 57
16012840 2005
2
Hereditary thyroglossal duct cysts. 62 57
8859122 1996
3
Autosomal dominant inheritance of thyroglossal duct cyst. 62 57
8004797 1994
4
Familial thyroglossal duct cyst. 62 57
8448898 1993
5
Familial occurrence of thyroglossal duct cyst. 62 57
2005520 1991
6
A familial pattern of thyroglossal duct cysts. 62 57
7411832 1980
7
Expression of thyroid transcription factor 1 (TTF-1) in extra thyroidal sites: papillary thyroid carcinoma of branchial cleft cysts and thyroglossal duct cysts and struma ovarii. 53 62
17285841 2006
8
Thyroid transcription factor 1 expression in cystic lesions of the neck: an immunohistochemical investigation of thyroglossal duct cysts, branchial cleft cysts and metastatic papillary thyroid cancer. 53 62
15947946 2005
9
Symptomatic Lingual Thyroglossal Duct Cyst in Children: A Laryngomalacia Phenotype. 62
35100842 2023
10
Use of Bilateral Superficial Cervical Plexus Block for Excision of Thyroglossal Duct Cyst in an ASA III Patient. 62
36474396 2022
11
Synchronous carcinoma of thyroglossal duct cyst and native thyroid gland. 62
36423942 2022
12
Transoral robotic excision of thyroglossal duct cyst using vestibular and sublingual incisions. 62
35855665 2022
13
Papillary carcinoma of a thyroglossal duct cyst in a pregnant woman. 62
36027556 2022
14
Cervical Necrotizing Fasciitis and Shock in the Post-Operative Pediatric Patient. 62
36356106 2022
15
Papillary Carcinoma of Thyroglossal Cyst with Thyroid Hemiagenesis: Is Conservative Surgical Management Enough? 62
36452739 2022
16
Subglottic Thyroglossal Cyst: A Case Report. 62
36246194 2022
17
Epilepsy and Pregnancy: An Audit of Specialized Care. 62
34353406 2022
18
Manifestations of radiation toxicity in the head, neck, and spine: An image-based review. 62
35499087 2022
19
Thyroglossal Duct Cyst Carcinoma With Synchronous Thyroid Papillary Carcinoma: A Case Report and Literature Review. 62
36059313 2022
20
Evaluation of preoperative cutaneous fistula as a risk factor for recurrence of thyroglossal duct cyst in children. 62
35670869 2022
21
Infected Thyroglossal Duct Cyst in a Neonate: A Report of a Rare Case. 62
35660691 2022
22
Removal of Thyroglossal Duct Cyst by a Submental Approach. 62
35195754 2022
23
Perioperative management of a patient with a giant thyroglossal duct cyst: a case report. 62
35783240 2022
24
Thyroglossal duct cyst with hoarseness as the sole symptom and an intralaryngeal extension masquerading as a laryngeal mass: Clinical experience and literature review. 62
35730630 2022
25
Dermoid cyst or thyroglossal duct cyst? A histopathological complexity. 62
35661381 2022
26
Coexistence of thyroglossal duct cyst and second branchial cleft cyst in a young woman: A case report and literature review. 62
35598343 2022
27
Endoscopic management of intralingual thyroglossal duct cysts: Case series and systematic review. 62
35659788 2022
28
[Ectopic thyroid carcinoma in front of hyoid bone misdiagnosed as thyroglossal cyst:a case report]. 62
35483692 2022
29
Ethanol ablation for the treatment of thyroglossal duct cysts: follow-up results for longer than 2 years. 62
34993573 2022
30
Papillary carcinoma arising from a thyroglossal duct cyst: A case report and literature review. 62
35468382 2022
31
[Transoral robotic surgery for treatment of lingual thyroglossal duct cyst]. 62
35610675 2022
32
Symptomatic Thyroglossal Duct Cyst Presenting With Synchronous and Localized Tongue Base Extranodal Mantle Cell Lymphoma. A Unique Case Report Demonstrating Lymphoma Colonization of Cyst Wall, Potentially Relating to a Persistent Embryological Foramen Cecum Remnant. 62
35394400 2022
33
Sarcomatoid Carcinoma From a Thyroglossal Duct Cyst in a 20-Year-Old Woman: A Case Report. 62
35677569 2022
34
Radiofrequency coblation assisted transoral excision of lingual thyroglossal duct cyst. 62
35153085 2022
35
Thyroglossal Duct Cyst in the Suprasternal Region. 62
35324319 2022
36
Knowledge and Utilization of the Posterior Hyoid Space as Related to Excision of the Thyroglossal Duct Cyst. 62
34581448 2022
37
Characteristics of lingual thyroglossal duct cysts under flexible laryngoscopy and treatment approaches. 62
35033924 2022
38
Cancer in thyroglossal duct cysts. 62
34791748 2022
39
Unexpected difficult airway due to an undiagnosed congenital lingual thyroglossal duct cyst in a neonate without stridor: A case report. 62
35228882 2022
40
Clinical and cytopathological features of suspected thyroglossal duct cysts and neoplasms arising from them: A large series from a referral cancer center. 62
34529338 2022
41
Epidermoid cyst mimicking a thyroglossal duct cyst in a pediatric patient: a case report. 62
34978993 2022
42
Thyroglossal Duct Cyst, a Case Report and Literature Review. 62
35225860 2022
43
A Cross-Sectional Evaluation of Outcomes of Pediatric Thyroglossal Duct Cyst Excision. 62
34325433 2022
44
Pediatric bronchogenic cysts in the head and neck region: A study of 10 surgical cases and a review of the literature. 62
36405846 2022
45
Transoral endoscopic vestibular approach Sistrunk procedure: First reported case series. 62
34693592 2022
46
Chemical ablation using ethanol or OK-432 for the treatment of thyroglossal duct cysts: a systematic review and meta-analysis. 62
34003346 2021
47
Sclerotherapy for Benign Cystic Lesions of the Head and Neck: Systematic Review of 474 Cases. 62
33755513 2021
48
Sistrunk vs modified Sistrunk procedures: Does procedure type matter? 62
33926727 2021
49
Intra-Thyroid Thyroglossal Duct Cyst Incidentally Identified in an Adult With Primary Hyperparathyroidism: A Rare Case Report and Literature Review. 62
35036228 2021
50
Distinguishing between isthmic thyroglossal duct cyst and goitre on nuclear thyroid scan: A case report. 62
34938400 2021

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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