Details of Disease

General Information of Disease (ID: DISJG17B)

Disease Name Thyroid hypoplasia
Definition
Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Disease Hierarchy
DIS4TOK0: Generalized resistance to thyroid hormone
DISJG17B: Thyroid hypoplasia
Disease Identifiers
MONDO ID
MONDO_0019861
MESH ID
D050033
UMLS CUI
C0151516
MedGen ID
57720
HPO ID
HP:0005990
Orphanet ID
95720
SNOMED CT ID
367524008

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 Supportive Autosomal dominant [1]
SLC26A4 TT7X02I moderate Genetic Variation [2]
TSHR TT6NYJA Strong Genetic Variation [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 [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PAX8 OTRPD9MI Supportive Autosomal dominant [4]
SLC26A4 OTXUTLVS Supportive Autosomal dominant [2]
TSHR OT0BC8LB Supportive Autosomal dominant [1]
FOXE1 OT5IR5IT moderate Genetic Variation [5]
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References

1 Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):777-84. doi: 10.1515/jpem-2014-0194.
2 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.
3 DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.Thyroid. 2017 Jan;27(1):129-131. doi: 10.1089/thy.2016.0469. Epub 2016 Dec 7.
4 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab. 2001 Jan;86(1):234-8. doi: 10.1210/jcem.86.1.7140.
5 Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.BMC Endocr Disord. 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69.