Details of Disease

Disease Name

Athyreosis

Definition

Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.

Disease Hierarchy

DIS4TOK0: Generalized resistance to thyroid hormone

DISBHHCU: Athyreosis

Disease Identifiers

MONDO ID

MONDO_0019855

MESH ID

D050033

UMLS CUI

C0749420

MedGen ID

155447

HPO ID

HP:0008191

Orphanet ID

95713

SNOMED CT ID

92978002

General Information of Disease (ID: DISBHHCU)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TSHR	TT6NYJA	Limited	Genetic Variation	[1]
TSHR	TT6NYJA	Supportive	Autosomal dominant	[2]
SLC26A4	TT7X02I	Strong	GermlineCausalMutation	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A4	DTGUASD	Supportive	Autosomal dominant	[3]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NKX2-5	OTS1SAWM	Supportive	Autosomal dominant	[4]
PAX8	OTRPD9MI	Supportive	Autosomal dominant	[5]
SLC26A4	OTXUTLVS	Supportive	Autosomal dominant	[3]
TSHR	OT0BC8LB	Supportive	Autosomal dominant	[2]
FOXE1	OT5IR5IT	Strong	Genetic Variation	[1]
IGSF1	OT3XD6U2	Strong	Biomarker	[6]
TTF2	OT5LJOWM	Strong	Genetic Variation	[7]
NKX2-1	OTCMEJTA	Definitive	Genetic Variation	[1]
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⏷ Show the Full List of 8 DOT(s)

References

1	Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.Clin Chim Acta. 2017 Jul;470:36-41. doi: 10.1016/j.cca.2017.04.020. Epub 2017 Apr 25.
2	Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Clin Endocrinol (Oxf). 2004 Feb;60(2):220-7. doi: 10.1111/j.1365-2265.2004.01967.x.
3	Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab. 2014 Jan;99(1):E169-76. doi: 10.1210/jc.2013-2619. Epub 2013 Dec 20.
4	Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab. 2006 Apr;91(4):1428-33. doi: 10.1210/jc.2005-1350. Epub 2006 Jan 17.
5	Genetic Defects in Thyroid Hormone Supply. 2018 Jan 12. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrre B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000C.
6	Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11.
7	A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002 Aug 15;11(17):2051-9. doi: 10.1093/hmg/11.17.2051.