Details of Disease

Disease Name

Turner syndrome

Schereshevkii Turner syndrome; chromosome X monosomy X; genital dwarfism; Bonnevie-Ullrich syndrome; 45, X syndrome; gonadal dysgenesis Turner type; Ullrich-Turner syndrome; gonadal dysgenesis (45,X); Turner Varny syndrome; genital dwarfism, Turner type; monosomy X; gonadal dysgenesis; 45,X gonadal dysgenesis; XO syndrome; 45,X0 syndrome; 45X syndrome; karyotype 45, X; gonadal dysgenesis - Turner; 45,X/46,XX syndrome; 45,X syndrome; monosomy X syndrome

Definition

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

Disease Hierarchy

DIS6SVEE: Syndromic disease

DISIL2ZI: Gonadal dysgenesis

DIS4V9SY: Inherited primary ovarian failure

DISYOBKW: Sex chromosome disorder of sex development

DIS2035C: Turner syndrome

Disease Identifiers

MONDO ID

MONDO_0019499

MESH ID

D014424

UMLS CUI

C0041408

MedGen ID

21734

Orphanet ID

881

SNOMED CT ID

38804009

General Information of Disease (ID: DIS2035C)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Somatropin recombinant	DMF3GM2	Approved	NA	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 17 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRD2	TTDP48B	Limited	Biomarker	[2]
IGFBP3	TTZHNQA	Limited	Genetic Variation	[3]
MAP3K1	TTW8TJI	Limited	Biomarker	[4]
TPO	TT52XDZ	Limited	Biomarker	[5]
CAT	TTPS279	Strong	Biomarker	[6]
CSF2RA	TT6MP2Z	Strong	Biomarker	[7]
FANCA	TTV5HJS	Strong	Genetic Variation	[8]
GART	TTEXB9Z	Strong	Biomarker	[9]
IL3RA	TTENHJ0	Strong	Biomarker	[7]
NOS2	TTF10I9	Strong	Biomarker	[6]
NR0B1	TTTK36V	Strong	Biomarker	[10]
PGD	TTZ3IFB	Strong	Genetic Variation	[11]
RS1	TTT2CZY	Strong	Genetic Variation	[12]
SLC52A2	TT6TKEN	Strong	Genetic Variation	[13]
SOD1	TTP9K3Q	Strong	Biomarker	[6]
SRD5A2	TTT02K8	Strong	Genetic Variation	[14]
SSRP1	TTETDKQ	Strong	Genetic Variation	[15]
------------------------------------------------------------------------------------


⏷ Show the Full List of 17 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A4	DTWDEIL	Strong	Genetic Variation	[16]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NDUFS7	DEIW03B	Strong	Genetic Variation	[17]
------------------------------------------------------------------------------------

This Disease Is Related to 37 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMH	OT5FH4BD	Limited	Altered Expression	[18]
DMRT1	OT5PU9U1	Limited	Genetic Variation	[19]
EFHC2	OTI459M8	Limited	Biomarker	[20]
KDM6A	OTZM3MJJ	Limited	Biomarker	[21]
RPS4X	OTIH80EK	Limited	Biomarker	[22]
TG	OT3ELHIJ	Limited	Biomarker	[23]
AMELX	OTIN26MM	Strong	Genetic Variation	[24]
ANOS1	OTZJT4KN	Strong	Biomarker	[25]
ARSL	OTF1VTCR	Strong	Biomarker	[26]
DHX37	OTM1A5KP	Strong	Genetic Variation	[27]
DMRT2	OTA39QNR	Strong	Genetic Variation	[28]
GDF9	OTNTVKVU	Strong	Genetic Variation	[29]
GRB10	OTCKXGRC	Strong	Biomarker	[30]
INPPL1	OTCDAVBQ	Strong	Biomarker	[31]
LGALS13	OTEV3DD7	Strong	Altered Expression	[32]
LHX9	OTDPEHC4	Strong	Genetic Variation	[33]
MAMLD1	OT9EVMQY	Strong	Biomarker	[34]
MLC1	OTCNZLSP	Strong	Genetic Variation	[35]
MOGS	OT99MBGB	Strong	Biomarker	[36]
MYO9B	OTQ94R5K	Strong	Genetic Variation	[37]
MYOD1	OTV2S79X	Strong	Biomarker	[30]
NIPBL	OTF6OOLU	Strong	Genetic Variation	[38]
PAICS	OTMZN747	Strong	Biomarker	[9]
PHPT1	OTFYWNFX	Strong	Biomarker	[39]
PPP2R3C	OT7E6V9B	Strong	Genetic Variation	[40]
RAD21	OTQS84ZF	Strong	Biomarker	[41]
RPS2	OTSMTZVB	Strong	Biomarker	[42]
RPS4Y1	OTIFRF9S	Strong	Biomarker	[22]
SMC1A	OT9ZMRK9	Strong	Genetic Variation	[43]
SMC3	OTWGFRHD	Strong	Genetic Variation	[44]
SOS2	OTV3XRE5	Strong	Biomarker	[30]
SOX3	OT1CRCOB	Strong	Biomarker	[39]
SOX8	OTEJXYZM	Strong	Genetic Variation	[45]
SPIDR	OTO1OII0	Strong	Biomarker	[46]
STATH	OTQHBHM9	Strong	Genetic Variation	[47]
TSHB	OTFDI39D	Strong	Altered Expression	[23]
NR5A1	OTOULYR4	Definitive	Genetic Variation	[48]
------------------------------------------------------------------------------------


⏷ Show the Full List of 37 DOT(s)

References

1	The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs. 2002;4(1):37-47.
2	FSH may be a useful tool to allow early diagnosis of Turner syndrome.BMC Endocr Disord. 2018 Feb 7;18(1):8. doi: 10.1186/s12902-018-0236-4.
3	The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.J Clin Endocrinol Metab. 2012 Apr;97(4):E671-7. doi: 10.1210/jc.2011-2521. Epub 2012 Jan 25.
4	MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15.
5	Immunological Profile and Predisposition to Autoimmunity in Girls With Turner Syndrome.Front Endocrinol (Lausanne). 2018 Jun 4;9:307. doi: 10.3389/fendo.2018.00307. eCollection 2018.
6	Analysis of oxidative stress enzymes and structural and functional proteins on human aortic tissue from different aortopathies.Oxid Med Cell Longev. 2014;2014:760694. doi: 10.1155/2014/760694. Epub 2014 Jul 1.
7	Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.J Med Genet. 1996 Nov;33(11):906-11. doi: 10.1136/jmg.33.11.906.
8	A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.Sex Dev. 2018;12(5):239-243. doi: 10.1159/000491407. Epub 2018 Jul 21.
9	Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences.Hum Reprod. 2014 Jul;29(7):1413-9. doi: 10.1093/humrep/deu109. Epub 2014 May 14.
10	Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.Mol Biol Rep. 2019 Jun;46(3):2971-2978. doi: 10.1007/s11033-019-04758-y. Epub 2019 Mar 16.
11	Upper limb hemimelia in a twin pregnancy which was obtained by an ICSI and PGD in a woman with mosaic Turner's syndrome and the prognosis.Organogenesis. 2017 Oct 2;13(4):179-182. doi: 10.1080/15476278.2017.1358842. Epub 2017 Sep 21.
12	Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.Ophthalmic Res. 2003 Sep-Oct;35(5):295-300. doi: 10.1159/000072151.
13	The pseudoautosomal regions, SHOX and disease.Curr Opin Genet Dev. 2006 Jun;16(3):233-9. doi: 10.1016/j.gde.2006.04.004. Epub 2006 May 2.
14	Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.Clin Genet. 2008 May;73(5):453-64. doi: 10.1111/j.1399-0004.2008.00980.x. Epub 2008 Apr 2.
15	Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.J Clin Endocrinol Metab. 2005 Apr;90(4):2429-35. doi: 10.1210/jc.2004-1110. Epub 2005 Feb 1.
16	SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.BMC Med Genet. 2018 Jun 18;19(1):103. doi: 10.1186/s12881-018-0612-y.
17	The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.Horm Res Paediatr. 2013;80(6):449-56. doi: 10.1159/000355411. Epub 2013 Nov 26.
18	Anti-Mllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy.Am J Med Genet A. 2018 Sep;176(9):1929-1934. doi: 10.1002/ajmg.a.40473. Epub 2018 Aug 8.
19	9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.Am J Med Genet A. 2013 Aug;161A(8):1882-96. doi: 10.1002/ajmg.a.36018. Epub 2013 Jul 3.
20	EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish.Cell Biosci. 2018 Oct 16;8:53. doi: 10.1186/s13578-018-0253-z. eCollection 2018.
21	Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.Horm Res Paediatr. 2018;89(6):413-422. doi: 10.1159/000488347. Epub 2018 Jun 14.
22	Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X.Hum Genet. 1996 Jan;97(1):39-44. doi: 10.1007/BF00218830.
23	Autoimmune hypothyroidism and hyperthyroidism in patients with Turner's syndrome.Eur J Endocrinol. 1996 May;134(5):568-75. doi: 10.1530/eje.0.1340568.
24	Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients--alternative to real-time PCR.J Biochem Biophys Methods. 2004 Aug 31;60(2):151-62. doi: 10.1016/j.jbbm.2004.05.004.
25	Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms.J Endocrinol Invest. 2004 Sep;27(8):765-9. doi: 10.1007/BF03347520.
26	Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.Genet Mol Res. 2014 Oct 31;13(4):9068-76. doi: 10.4238/2014.October.31.22.
27	Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.
28	A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.Hum Mol Genet. 1999 Jun;8(6):989-96. doi: 10.1093/hmg/8.6.989.
29	Differentiation of primordial germ cells from premature ovarian insufficiency-derived induced pluripotent stem cells.Stem Cell Res Ther. 2019 May 31;10(1):156. doi: 10.1186/s13287-019-1261-6.
30	A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome.Eur J Endocrinol. 2013 Jul 29;169(3):277-89. doi: 10.1530/EJE-13-0069. Print 2013 Sep.
31	Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study.Eur J Endocrinol. 2016 Dec;175(6):633-643. doi: 10.1530/EJE-16-0357. Epub 2016 Sep 20.
32	Maternal serum placental protein 13 at eleven to thirteen weeks in chromosomally abnormal pregnancies.Fetal Diagn Ther. 2010;27(2):72-7. doi: 10.1159/000294340. Epub 2010 Mar 23.
33	Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis.J Clin Endocrinol Metab. 2001 Jun;86(6):2465-9. doi: 10.1210/jcem.86.6.7539.
34	A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.Sex Dev. 2015;9(2):80-5. doi: 10.1159/000371603. Epub 2015 Feb 3.
35	Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome.Clin Neurol Neurosurg. 2019 Sep;184:105400. doi: 10.1016/j.clineuro.2019.105400. Epub 2019 Jul 4.
36	Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.Eur J Med Genet. 2009 Jul-Aug;52(4):207-10. doi: 10.1016/j.ejmg.2009.03.016. Epub 2009 Apr 16.
37	Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.Int J Immunogenet. 2017 Aug;44(4):153-157. doi: 10.1111/iji.12323. Epub 2017 Jun 18.
38	Special cases in Cornelia de Lange syndrome: The Spanish experience.Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10.
39	Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism.Clin Genet. 1978 Apr;13(4):359-68. doi: 10.1111/j.1399-0004.1978.tb01193.x.
40	PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. Eur J Endocrinol. 2019 May 1;180(5):291-309. doi: 10.1530/EJE-19-0067.
41	Full karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia?.Mol Hum Reprod. 2006 Jan;12(1):55-9. doi: 10.1093/molehr/gal003. Epub 2006 Jan 18.
42	Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs.Genomics. 1996 Jan 1;31(1):44-50. doi: 10.1006/geno.1996.0007.
43	In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.Am J Med Genet A. 2012 Jan;158A(1):193-8. doi: 10.1002/ajmg.a.34360. Epub 2011 Nov 21.
44	RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.Bioinformatics. 2014 Oct 15;30(20):2965-7. doi: 10.1093/bioinformatics/btu419. Epub 2014 Jul 1.
45	Genetic evaluation of disorders of sex development: current practice and novel gene discovery.Curr Opin Endocrinol Diabetes Obes. 2019 Feb;26(1):54-59. doi: 10.1097/MED.0000000000000452.
46	A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 2017 Feb 1;102(2):681-688. doi: 10.1210/jc.2016-2714.
47	Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms.Hum Mol Genet. 1993 Jan;2(1):43-50. doi: 10.1093/hmg/2.1.43.
48	The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23.