Details of Disease

General Information of Disease (ID: DISEV092)

Disease Name Congenital hypogonadotropic hypogonadism
Definition
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISFF2OX: Non-acquired pituitary hormone deficiency
DISEV092: Congenital hypogonadotropic hypogonadism
Disease Identifiers
MONDO ID
MONDO_0015770
UMLS CUI
C3899503
MedGen ID
859097
Orphanet ID
174590
SNOMED CT ID
722944006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KISS1R TT3KBZY Limited Genetic Variation [1]
KLB TTARBVH Limited Biomarker [2]
GNRHR TT8R70G moderate Genetic Variation [3]
GNRH1 TT0ID4A Strong Genetic Variation [4]
TACR3 TTBPGLU Strong Biomarker [5]
------------------------------------------------------------------------------------
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHD7 OTHNIZWZ Limited Genetic Variation [6]
SEMA7A OT0ZJK64 Limited Genetic Variation [7]
FLRT3 OT3XMZU3 Strong Biomarker [8]
PROK2 OT70IFEZ Strong Genetic Variation [9]
TAC3 OTOJGM38 Strong Biomarker [10]
------------------------------------------------------------------------------------

References

1 Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.J Assist Reprod Genet. 2019 Jun;36(6):1273-1280. doi: 10.1007/s10815-019-01468-z. Epub 2019 May 9.
2 KLB, encoding -Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376.
3 Glu(2.53(90)) of the GnRH receptor is part of the conserved G protein-coupled receptor structure and does not form a salt-bridge with Lys(3.32(121)).Mol Cell Endocrinol. 2019 Feb 5;481:53-61. doi: 10.1016/j.mce.2018.11.009. Epub 2018 Nov 23.
4 R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.PLoS One. 2013 Jul 25;8(7):e69616. doi: 10.1371/journal.pone.0069616. Print 2013.
5 A single-nucleotide polymorphism induced alternative splicing in Tacr3 involves in hypoxic-ischemic brain damage.Brain Res Bull. 2020 Jan;154:106-115. doi: 10.1016/j.brainresbull.2019.11.001. Epub 2019 Nov 10.
6 High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.Sci Rep. 2019 Feb 7;9(1):1597. doi: 10.1038/s41598-018-38178-y.
7 Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.Pediatr Res. 2014 May;75(5):641-4. doi: 10.1038/pr.2014.23. Epub 2014 Feb 12.
8 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.
9 Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.Endocr Res. 2015;40(3):166-71. doi: 10.3109/07435800.2014.982327. Epub 2014 Dec 22.
10 TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans. J Clin Endocrinol Metab. 2010 May;95(5):2287-95. doi: 10.1210/jc.2009-2600. Epub 2010 Mar 1.