MCID: THY106
MIFTS: 22

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 20 58 70
Thyroglossal Duct Cyst 54 17
Hereditary Thyroglossal Duct Cysts 20
Thyroglossal Duct Cysts Familial 20
Thyroglossal Duct Cysts 20
Thyroglossal Cyst 70

Classifications:

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


External Ids:

OMIM® 57 188455
ICD10 via Orphanet 33 Q89.2
UMLS via Orphanet 71 C3495590
Orphanet 58 ORPHA93953
UMLS 70 C0040124 C3495590

Summaries for Thyroglossal Duct Cyst, Familial

GARD : 20 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 carcinoma. An important gene associated with Thyroglossal Duct Cyst, Familial is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid, heart and kidney.

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 20-May-2021)

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 70)
# Related Disease Score Top Affiliating Genes
1 papillary carcinoma 10.6
2 thyroid carcinoma 10.6
3 thyroid cancer, nonmedullary, 1 10.5
4 differentiated thyroid carcinoma 10.5
5 squamous cell carcinoma 10.5
6 dysphagia 10.4
7 laryngomalacia 10.4
8 benign teratoma 10.4
9 cystic teratoma 10.4
10 mature teratoma 10.4
11 thyroiditis 10.4
12 mucocele of salivary gland 10.3
13 goiter 10.2
14 hypothyroidism 10.2
15 papillary adenocarcinoma 10.2
16 adenoma 10.2
17 papillary thyroid microcarcinoma 10.2
18 cyanosis, transient neonatal 10.2
19 multinodular goiter 10.2
20 sleep apnea 10.2
21 adenosquamous carcinoma 10.2
22 rare tumor 10.2
23 branchial cleft anomalies 10.1
24 epidermoid cysts 10.1
25 thyroid carcinoma, familial medullary 10.1
26 polycystic liver disease 1 with or without kidney cysts 10.1
27 lung cancer 10.1
28 b-lymphoblastic leukemia/lymphoma 10.1
29 respiratory failure 10.1
30 nodular goiter 10.1
31 postsurgical hypothyroidism 10.1
32 lymphangioma 10.1
33 thyroid gland cancer 10.1
34 struma ovarii 10.1
35 teratoma 10.1
36 thyroid gland medullary carcinoma 10.1
37 thyroid ectopia 10.1
38 branchiooculofacial syndrome 10.1
39 myxedema 10.1
40 sudden infant death syndrome 10.1
41 sarcoma, synovial 10.1
42 breath-holding spells 10.1
43 disease by infectious agent 10.1
44 cysticercosis 10.1
45 hydronephrosis 10.1
46 sarcoma 10.1
47 hypoparathyroidism 10.1
48 chronic apical periodontitis 10.1
49 graves' disease 10.1
50 coccidioidomycosis 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 20-May-2021)

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:

40
Thyroid, Heart, Kidney, Liver, Lung, Salivary Gland

Publications for Thyroglossal Duct Cyst, Familial

Articles related to Thyroglossal Duct Cyst, Familial:

# Title Authors PMID Year
1
Familial thyroglossal duct cyst. 61 57
8448898 1993
2
Hereditary thyroglossal duct cysts. 57
16012840 2005
3
Hereditary thyroglossal duct cysts. 57
8859122 1996
4
Autosomal dominant inheritance of thyroglossal duct cyst. 57
8004797 1994
5
Familial occurrence of thyroglossal duct cyst. 57
2005520 1991
6
A familial pattern of thyroglossal duct cysts. 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. 54
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. 54
15947946 2005

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