Mayer-Rokitansky-Kuster-Hauser Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RKH SYNDROME MCID: MYR002 MIFTS: 58	Mayer-Rokitansky-Kuster-Hauser Syndrome (RKH SYNDROME) Categories: Fetal diseases, Nephrological diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Mayer-Rokitansky-Kuster-Hauser Syndrome

MalaCards integrated aliases for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome ⁵⁶ ⁵² ⁵⁸ ⁷³

Mrkh Syndrome ⁵⁶ ⁷⁴ ⁵² ²⁵ ⁵⁸ ⁷³

Rokitansky Kuster Hauser Syndrome ²⁵ ²⁹ ⁶ ⁷¹

Congenital Absence of Uterus and Vagina ⁵⁶ ⁵² ⁵⁸

Rokitansky Syndrome ⁵² ²⁵ ⁵⁸

Mullerian Aplasia ⁵² ²⁵ ⁵⁸

Congenital Absence of the Uterus and Vagina ⁵² ²⁵

Mayer-Rokitansky-Küster-Hauser Syndrome ⁵² ²⁵

Genital Renal Ear Syndrome ⁵² ²⁵

Mullerian Dysgenesis ⁵² ²⁵

Mullerian Agenesis ²⁵ ³⁶

Mrkh Anomaly ⁵⁶ ⁷³

Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida ⁵⁶

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 ⁵⁸

Congenital Absence of Uterus and Vagina; Cauv ⁵⁶

Syndrome, Mayer-Rokitansky-Kuster-Hauser ³⁹

Von Mayer-Rokitansky-Kuster Anomaly ⁵⁶

Rokitansky-Kuster-Hauser Syndrome ⁷³

Aplasia of the Mullerian Ducts ⁵⁸

Mullerian Aplasia/dysgenesis ⁵⁶

Mullerian Duct Failure ⁵⁸

Mrkh Syndrome Type 1 ⁵⁸

Rokitansky Sequence ⁵⁸

Müllerian Agenesis ⁵²

Rkh Syndrome ⁷³

Mrk Anomaly ⁵⁶

Cauv ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

mayer-rokitansky-kuster-hauser syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;

mayer-rokitansky-kuster-hauser syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;

mullerian aplasia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

mayer-rokitansky-kuster-hauser syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Nephrological diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

Congenital malformations of uterus and cervix

Other congenital malformations of uterus and cervix

Orphanet: ⁵⁸

Rare renal diseases

Rare infertility disorders

Rare gynaecological and obstetric diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 277000

KEGG ³⁶ H00600

MESH via Orphanet ⁴⁴ C537371

ICD10 via Orphanet ³³ Q51.8

UMLS via Orphanet ⁷² C0431637 C0431648 C1698581

Orphanet ⁵⁸ ORPHA247775 ORPHA3109 ORPHA73217

MedGen ⁴¹ C1698581

SNOMED-CT via HPO ⁶⁸ 16507009 248871003 248942000 more

UMLS ⁷¹ C1698581

Sources

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3109 Definition Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms). Epidemiology MRKH syndrome has a worldwide incidence of 1/4500 live female births. Clinical description MRKH syndrome is most often diagnosed in adolescence as the first symptom is usually a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. MRKH syndrome type 1 and 2 patients lack the uterus and the upper 2/3 of the vagina leading to difficulties with sexual intercourse in some. Pelvic pain can be reported in those with uterine remnants. As the uterus is missing or not functional, women cannot bear children, but ovaries are normal and functional. Other associated malformations seen in MRKH type 2 include kidney abnormalities (40% of cases), skeletal abnormalities (20-25%), hearing impairment (10%), and, more rarely, heart defects. Etiology The exact etiology is largely unknown, even if the spectrum of malformations encountered suggests a developmental defect of the intermediate mesoderm during embryogenesis (by the end of the 4th week of fetal life), leading to an alteration of the blastema of the cervicothoracic somites and the pronephric ducts. It is now clear that MRKH syndrome has a genetic origin through increasing family descriptions and numerous genetic studies already completed. These latter have led to reveal several chromosomal abnormalities associated with the disease and several putative candidate genes have been described. Diagnostic methods The karyotype of MRKH patients is always 46, XX. Hormone levels are normal, showing normal and functional ovaries without hyperandrogenism. Transabdominal ultrasonography must be the first investigation in evaluating patients with suspected utero-vaginal aplasia. MRI can be performed to clearly visualize the malformation. A full check-up (renal ultrasonography, spine radiography, heart echography, audiogram) must be undertaken to search for any associated malformations. Differential diagnosis Differential diagnosis includes isolated vaginal atresia, which is found in various syndromes such as McKusick-Kaufman syndrome, androgen insensitivity syndrome, Mullerian aplasia and hyperandrogenism, and renal-genital-middle ear anomalies (see these terms). Genetic counseling MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity , and in these cases genetic counseling can be beneficial. Management and treatment The medical care of MRKH patients requires the coordinated efforts of pediatricians , gynecologists, surgeons, endocrinologists and psychologists. Treatment consisting in creating a neovagina must be offered to patients only when they are ready to start sexual activity and when emotionally mature (around 17-21 years). Frank's (nonsurgical) method requires the application of vaginal dilators on the vaginal dimple for at least 20 minutes/day for several months. If unsuccessful, various surgical procedures can be performed to create a neovagina. Clinical follow-up and regular intercourse are essential components to a successful outcome. Psychological support and counseling is strongly recommended for affected women and should provide patients with future fertility options (in vitro fertilization of one's own oocytes followed by surrogate pregnancy or adoption). For the associated malformations in MRKH type 2, specific medical care is directed toward the anomalies. Prognosis MRKH syndrome is not a life threatening disease. With treatment, sexual relationships are possible and fertility options are available. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to ureterocele and mullerian aplasia and hyperandrogenism. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is H19 (H19 Imprinted Maternally Expressed Transcript), and among its related pathways/superpathways are Wnt signaling pathway and PI3K-Akt signaling pathway. The drugs Calcineurin Inhibitors and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and ovary, and related phenotypes are aplasia of the uterus and hypoplasia of the vagina

Genetics Home Reference : ²⁵ Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent, although external genitalia are normal. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction. When only reproductive organs are affected, the condition is classified as MRKH syndrome type 1. Some women with MRKH syndrome also have abnormalities in other parts of the body; in these cases, the condition is classified as MRKH syndrome type 2. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome type 2 may also have hearing loss or heart defects.

OMIM : ⁵⁶ Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830). (277000)

KEGG : ³⁶ Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It has been reported that Mullerian aplasia and hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals.

UniProtKB/Swiss-Prot : ⁷³ Rokitansky-Kuster-Hauser syndrome: Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls.

Wikipedia : ⁷⁴ Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) or vaginal agenesis, is... more...

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Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 225)

#	Related Disease	Score	Top Affiliating Genes
1	ureterocele	31.3	PAX2 LHX1
2	mullerian aplasia and hyperandrogenism	30.6	WNT7A WNT5A WNT4
3	chromosome 17q12 deletion syndrome	30.6	LHX1 HNF1B
4	disorders of sexual development	30.4	WT1 WNT4 SHOX
5	renal hypodysplasia/aplasia 1	29.8	WT1 WNT9B WNT4 PAX2 LHX1 HNF1B
6	renal hypoplasia	29.5	WT1 WNT9B WNT4 PAX2 LHX1 HNF1B
7	cleft palate, isolated	28.9	WNT9B WNT5A TP63 TBX5
8	premature ovarian failure 1	28.7	WT1 WNT4 TP63 SHOX GALT
9	partial bilateral aplasia of the mullerian ducts	12.7
10	rokitansky sequence	12.6
11	mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	12.1
12	pseudounicornuate uterus	11.4
13	true unicornuate uterus	11.4
14	amenorrhea	11.3
15	leiomyoma	10.9
16	gonadal dysgenesis	10.9
17	endometriosis	10.9
18	46 xx gonadal dysgenesis	10.9
19	hypogonadism	10.9
20	hemometra	10.8
21	uterine anomalies	10.8
22	adenomyosis	10.8
23	myoma	10.8
24	infertility	10.8
25	vaginal atresia	10.8
26	ovarian cancer	10.8
27	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.8
28	androgen insensitivity syndrome	10.7
29	renal dysplasia	10.7
30	thrombocytopenia-absent radius syndrome	10.7
31	anxiety	10.7
32	sensorineural hearing loss	10.7
33	squamous cell papilloma	10.7
34	thrombocytopenia	10.7
35	papilloma	10.7
36	adenocarcinoma	10.7
37	turner syndrome	10.7
38	pulmonary valve stenosis	10.7
39	end stage renal disease	10.7
40	neurofibromatosis, type ii	10.6
41	aortic valve disease 1	10.6
42	neurofibromatosis, type i	10.6
43	silver-russell syndrome 1	10.6
44	thrombophilia due to thrombin defect	10.6
45	velocardiofacial syndrome	10.6
46	duodenal atresia	10.6
47	ovarian dysgenesis 1	10.6
48	paine syndrome	10.6
49	gonadal agenesis	10.6
50	branchiootic syndrome 1	10.6

Graphical network of the top 20 diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

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Symptoms & Phenotypes for Mayer-Rokitansky-Kuster-Hauser Syndrome

Human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

⁵⁸ ³¹ (show all 13)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	aplasia of the uterus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000151
2	hypoplasia of the vagina ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008726
3	abnormal form of the vertebral bodies ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003312
4	horseshoe kidney ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000085
5	ectopic kidney ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000086
6	vertebral fusion ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002948
7	abnormal sacrum morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005107
8	unilateral renal agenesis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000122
9	vertebral segmentation defect ⁵⁸		Occasional (29-5%)
10	abnormality of the kidney ⁵⁸		Frequent (79-30%)
11	hypoplasia of the uterus ³¹			HP:0000013
12	amenorrhea ³¹			HP:0000141
13	aplasia of the vagina ³¹			HP:0003250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary External Genitalia Female:
normal external genitalia

Endocrine Features:
amenorrhea, primary
normal female secondary sexual characteristics

Genitourinary Internal Genitalia Female:
aplasia of mullerian duct derivatives
dysgenesis of mullerian duct derivatives
functional ovaries
congenital absence or severe hypoplasia of the upper two-thirds of vagina
congenital absence or severe hypoplasia of uterus
more

Clinical features from OMIM:

277000

GenomeRNAi Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

²⁶ (show all 20)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.64	WT1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.64	TBX5
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-119	9.64	HNF1B
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.64	SHOX
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.64	WT1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.64	WT1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.64	SHOX
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.64	WT1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.64	SHOX
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.64	TBX3
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.64	SHOX WT1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	9.64	WT1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.64	WT1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.64	WT1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-5	9.64	HNF1B
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.64	TBX5
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	9.64	TBX5
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.64	WT1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.64	TBX3
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-98	9.64	TBX5

MGI Mouse Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

⁴⁵ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	10.27	DLG1 HNF1B LAMC1 LHX1 PAX2 TBX3
2	endocrine/exocrine gland	MP:0005379	10.21	DLG1 GALT HNF1B LAMC1 LHX1 PAX2
3	cellular	MP:0005384	10.18	DLG1 GALT HNF1B LAMC1 LHX1 PAX2
4	growth/size/body region	MP:0005378	10.18	DLG1 GALT HNF1B LAMC1 LHX1 TBX3
5	mortality/aging	MP:0010768	10.17	DLG1 GALT HNF1B LAMC1 LHX1 PAX2
6	cardiovascular system	MP:0005385	10.15	LAMC1 LHX1 PAX2 TBX3 TBX5 TP63
7	limbs/digits/tail	MP:0005371	9.91	DLG1 TBX3 TBX5 TP63 WNT4 WNT5A
8	muscle	MP:0005369	9.86	DLG1 HNF1B LAMC1 TBX3 TBX5 TP63
9	normal	MP:0002873	9.81	LAMC1 LHX1 TBX3 TBX5 TP63 WNT4
10	renal/urinary system	MP:0005367	9.65	DLG1 HNF1B LAMC1 LHX1 PAX2 TP63
11	reproductive system	MP:0005389	9.4	DLG1 GALT LAMC1 LHX1 PAX2 TBX3

Sources

Drugs & Therapeutics for Mayer-Rokitansky-Kuster-Hauser Syndrome

Drugs for Mayer-Rokitansky-Kuster-Hauser Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Calcineurin Inhibitors

Phase 3

Tacrolimus

Approved, Investigational

104987-11-3

445643 439492 6473866

Synonyms:

(-)-FK 506

(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone

104987-11-3

109581-93-3 (Hydrate)

15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,

3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone

8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN

AC-1182

AC1L1K7H

AC1L97GB

AC1L9IBU

Advagraf

AKOS005145901

Ambap104987-11-3

Ambap5429

Anhydrous tacrolimus

Anhydrous, tacrolimus

BCBcMAP01_000194

Bio-0921

Bio2_000470

Bio2_000950

BRD-K35452788-001-02-1

BSPBio_001279

BSPBio-001279

C01375

C44H69NO10

CCRIS 7124

CHEBI:100924

CHEBI:61049

CHEMBL1200738

CID11158639

CID11556866

CID439492

CID445643

CID5372

CID5472317

CID6426916

CID6436007

CID6473866

CID6536850

CID6610362

CID6912836

CID9832283

CID9853905

CID9918805

CID9940643

CID9963169

Cilag brand OF tacrolimus

CPD000466356

CPD-10016

D08556

DB00864

DivK1c_001040

FK 506

FK5

Fk-506

FK506

FK-506

FR 900506

FR900506

FR-900506

FT-0082660

Fujimycin

Fujisawa brand OF tacrolimus

Graceptor

HMS1362O21

HMS1792O21

HMS1990O21

HMS2051C18

HMS2093M19

HMS503O21

IDI1_001040

IDI1_002225

Janssen brand OF tacrolimus

K506

KBio1_001040

KBio2_000619

KBio2_003187

KBio2_005755

KBio3_001097

KBio3_001098

KBioGR_000619

KBioSS_000619

L 679934

L-679934

LCP-Tacro

LMPK04000003

LS-64247

MLS000759471

MLS001424054

Modigraf

MolPort-003-666-518

NCGC00163470-01

NCGC00163470-02

NCGC00163470-03

NCGC00163470-04

NCGC00179232-01

NChemBio.2007.16-comp1

nchembio.2007.23-comp2

NINDS_001040

NSC717865

Prograf

Prograf (TN)

Prograft

Protopic

Protopy

S5003_Selleck

SAM001246677

SMR000466356

Tacarolimus

tacrolimus

Tacrolimus

Tacrolimus (anhydrous)

Tacrolimus (INN)

Tacrolimus (Prograf?)

Tacrolimus anhydrous

tacrolimus hydrate

Tacrolimus, anhydrous

Tsukubaenolide

UNII-Y5L2157C4J

Prednisone

Approved, Vet_approved

53-03-2

5865

Synonyms:

(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione

(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione

(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione

.delta. E

.delta.(sup1)-Cortisone

.delta.1-Cortisone

.delta.1-Dehydrocortisone

.delta.-Cortelan

.delta.-Cortisone

.delta.-Cortone

.delta.-E

.delta.sone

1,2-Dehydrocortisone

1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione

1,4-Pregnadiene-17a,21-diol-3,11,20-trione

1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione

1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione

1,4-Pregnadiene-17α,21-diol-3,11,20-trione

17,21-Dihydroxypregna-1,4-diene-3,11,20-trione

17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione

1-Cortisone

1-Dehydrocortisone

53-03-2

68-59-7

81552_FLUKA

AC-11112

AC1L1LB2

AC1Q29EZ

Acis brand OF prednisone

ACon0_000082

ACon1_000297

Adasone

AI3-52939

Ancortone

apo-Prednisone

Apo-prednisone

Apo-Prednisone

Apotex brand OF prednisone

Aventis brand OF prednisone

Betapar

Bicortone

Bio-0649

BPBio1_000323

BRD-K85883481-001-04-2

BSPBio_000293

C07370

C21H26O5

Cartancyl

CCRIS 2646

CHEBI:8382

CHEMBL635

CID5865

Colisone

Cortan

Cortancyl

Cortidelt

Cotone

CPD001227202

Cutason

Dacorten

Dacortin

DB00635

Decortancyl

Decortin

Decortisyl

Dehydrocortisone

Dekortin

Delcortin

Dellacort

Dellacort A

delta cortelan

Delta Cortelan

Delta E

Delta E.

delta(sup 1)-Cortisone

delta(sup 1)-Dehydrocortisone

delta-1-Cortisone

delta-1-Dehydrocortisone

Delta-cortelan

Delta-Cortelan

Deltacortene

delta-Cortisone

Deltacortisone

Delta-cortisone

delta-Cortone

Deltacortone

Delta-cortone

Delta-dome

Delta-Dome

Deltasone

Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone

Deltison

Deltisona

Deltisone

Deltra

Diadreson

Di-Adreson

Diba brand OF prednisone

Econosone

EINECS 200-160-3

Encorton

Encortone

Enkortolon

Enkorton

Fawns and mcallan brand OF prednisone

Fernisone

Ferring brand OF prednisone

Fiasone

GALENpharma brand OF prednisone

Halsey drug brand OF prednisone

Hexal brand OF prednisone

HMS1568O15

HMS2090J13

Hoechst brand OF prednisone

Hostacortin

HSDB 3168

ICN brand OF prednisone

Incocortyl

In-Sone

Juvason

Kortancyl

Lichtenstein brand OF prednisone

Liquid pred

Liquid Pred

Lisacort

LMST02030180

Lodotra

LS-1325

MEGxm0_000443

Me-Korti

Merck brand OF prednisone

Merz brand OF prednisone

Metacortandracin

Meticorten

Meticorten (Veterinary)

Metrevet (Veterinary)

Mibe brand OF prednisone

MLS001061265

MLS001304073

MLS001335907

MLS001335908

MLS002154191

MLS002207083

MolPort-001-740-041

NCGC00090766-01

NCGC00090766-02

NCGC00090766-03

NCI60_000008

NCI-C04897

Nisona

Nizon

Novoprednisone

NSC 10023

NSC10023

Nurison

Orasone

Origen Prednisone

P1276

P6254_SIGMA

Panafcort

Panasol

Paracort

Parmenison

Pehacort

Pharmacia brand OF prednisone

PRD

Precort

Predeltin

Predni tablinen

Prednicen-M

Prednicorm

Prednicort

Prednicot

Prednidib

Prednilonga

Predniment

Prednison

Prednison acsis

Prednison galen

Prednison hexal

Prednisona

Prednisona [INN-Spanish]

Prednisone

Prednisone [INN:BAN]

Prednisone Intensol

Prednisonum

Prednisonum [INN-Latin]

Prednitone

Prednizon

Prednovister

Presone

Prestwick_405

Prestwick0_000077

Prestwick1_000077

Prestwick2_000077

Prestwick3_000077

Pronison

Pronisone

Rectodelt

Retrocortine

S1622_Selleck

SAM002264641

Schering-plough brand OF prednisone

Seatrace brand OF prednisone

Servisone

SK-Prednisone

SMR000718760

SMR001227202

Solvay brand OF prednisone

Sone

SPBio_002214

Sterapred

Supercortil

Trommsdorff brand OF prednisone

U 6020

Ultracorten

Ultracortene

UNII-VB0R961HZT

Winpred

WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ

Wojtab

Zenadrid

Zenadrid (veterinary)

Zenadrid [veterinary]

ZINC03875357

Mycophenolic acid

Approved

24280-93-1

446541

Synonyms:

(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate

(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid

Acid, mycophenolic

Acide mycophenolique

acido Micofenolico

Acido micofenolico

Acidum mycophenolicum

Melbex

micofenolico acido

Micofenolico acido

Mycophenoic acid

Mycophenolate

Mycophenolic acid

Mycophenolsaeure

Mycophenolsäure

Myfortic

Azathioprine

Approved

446-86-6

2265

Synonyms:

[Methyl(nitroimidazolyl)mercaptopurine]

446-86-6

55774-33-9 (hydrochloride salt)

6-((1-Methyl-4-nitro-1H-imidazol-5-yl)thio)-1H-purine

6-((1-Methyl-4-nitroimidazol-5-yl)thio)purine

6-({4-nitro-1-methyl-1H-imidazol-5-yl}sulfanyl)-7H-purine

6-(1'-Methyl-4'-nitro-5'-imidazolyl)mercaptopurine

6-(1'-Methyl-4'-nitro-5'-imidazolyl)-mercaptopurine

6-(1-Methyl-4-nitroimidazol-5-yl)thiopurine

6-(1-Methyl-4-nitroimidazol-5-ylthio)purin

6-(1-Methyl-4-nitroimidazol-5-ylthio)purin [Czech]

6-(1-Methyl-p-nitro-5-imidazolyl)thiopurine

6-(1-Methyl-p-nitro-5-imidazolyl)-thiopurine

6-(3-Methyl-5-nitro-3H-imidazol-4-ylsulfanyl)-7H-purine

6-(3-methyl-5-nitroimidazol-4-yl)sulfanyl-7H-purine

6-(Methyl-p-nitro-5-imidazolyl)thiopurine

6-(Methyl-p-nitro-5-imidazolyl)-thiopurine

6-[(1-methyl-4-nitro-1H-imidazol-5-yl)sulfanyl]-7H-purine

6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-1H-Purine

6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-7H-purine

6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-9H-purine

6-[(1-Methyl-4-nitroimidazol-5-yl)- thio] purine

6-[(1-Methyl-4-nitroimidazol-5-yl)thio]purine

6-1'-Methyl,4'-nitro,5'-imidazolyl mercaptopurine

A 4638

A2593_SIAL

A4638_SIAL

A4638_SIGMA

AB00443544

AB00443544-03

AC1L1DAL

AC1Q3Z1F

AC-4230

AI3-50290

AI-981/34845012

Azamun

Azamun [Czech]

Azanin

Azasan

Azasan (TN)

Azasan, Imuran, Azamun, BW-57-322, NSC-39084, Azathioprine

Azathioprin

azathioprine

Azathioprine

Azathioprine (JP15/USP/INN)

Azathioprine [USAN:INN:BAN:JAN]

Azathioprine sodium

Azathioprine Sodium

Azathioprine sodium salt

Azathioprine sulfate

Azathioprinum

Azathioprinum [INN-Latin]

Azathiopurine

azatiopr in

Azatioprin

Azatioprina

Azatioprina [INN-Spanish]

Azothioprine

B. W. 57-322

BPBio1_000054

BRD-K32821942-001-05-6

BRD-K60324116-001-01-5

BSPBio_000048

BSPBio_001876

BW 57322

BW 57-322

BW-57-322

C06837

C9H7N7O2S

CAS-446-86-6

CBDivE_013132

CCRIS 62

Ccucol

CHEBI:2948

CHEMBL1542

ChemDiv1_002659

CID2265

cMAP_000046

CPD000427366

Cytostatics

D00238

DB00993

DivK1c_000586

EINECS 207-175-4

EU-0100027

FT-0083532

HMS1568C10

HMS1920E17

HMS2091K19

HMS501N08

HMS594I19

HSDB 7084

IDI1_000586

Immuran

Imuran

Imuran (TN)

Imurek

Imurel

KBio1_000586

KBio2_000464

KBio2_002427

KBio2_003032

KBio2_004995

KBio2_005600

KBio2_007563

KBio3_001376

KBio3_002906

KBioGR_000646

KBioGR_002427

KBioSS_000464

KBioSS_002433

Lopac0_000027

Lopac-A-4638

LS-123

Methylnitroimidazolylmercaptopurine

MLS001049307

MolPort-000-745-914

MolPort-000-764-262

MolPort-003-665-485

Muran

NCGC00015060-01

NCGC00015060-02

NCGC00015060-04

NCGC00015060-12

NCGC00090836-01

NCGC00090836-02

NCGC00090836-03

NCGC00090836-04

NCGC00090836-05

NCGC00090836-06

NCGC00094593-01

NCGC00094593-02

NCGC00094593-03

NCI-C03474

NINDS_000586

NSC 39084

NSC39084

NSC-39084

Oprea1_375441

Oprea1_533384

Oprea1_633462

Prestwick_41

Prestwick0_000094

Prestwick1_000094

Prestwick2_000094

Prestwick3_000094

S1721_Selleck

SAM002589938

SDCCGMLS-0065415.P001

SMR000427366

Sodium, azathioprine

SPBio_000255

SPBio_001987

Spectrum_000064

SPECTRUM1500133

Spectrum2_000068

Spectrum3_000308

Spectrum4_000243

Spectrum5_000848

STK831906

STOCK1S-20293

STOCK1S-27186

Thiopurine 6-(1-methyl-4-nitroimidazol-5-yl)

UNII-MRK240IY2L

WLN: T56 BM DN FN HNJ IS- ET5N CNJ A1 DNW

ZINC04258316

Immunosuppressive Agents

Immunologic Factors

Thymoglobulin

Interventional clinical trials:

(show all 11)

#	Name	Status	NCT ID	Phase	Drugs
1	Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study	Recruiting	NCT03277430	Phase 3	Tacrolimus
2	Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome	Unknown status	NCT01911884
3	Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)	Recruiting	NCT03689842
4	Uterus Transplantation From a Multi-organ Donor: A Prospective Trial	Recruiting	NCT03252795
5	Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser	Recruiting	NCT02967822
6	Uterus Transplantation LD - Feasibility Study - Sahlgrenska - Bellevue Medical Centre	Recruiting	NCT03590405
7	Uterine Transplantation for the Treatment of Uterine Factor Infertility	Recruiting	NCT02573415
8	Penn Uterine Transplantation for Uterine Factor Infertility Trial	Active, not recruiting	NCT03307356
9	Uterine Transplantation and Pregnancy Induction in Women Affected by Absolute Uterine Factor Infertility	Active, not recruiting	NCT02656550
10	Uterine Transplant in Absolute Uterine Infertility (AUIF)	Not yet recruiting	NCT02741102
11	Feasibility Study of Uterus Transplantation Procedure From a Live Donor Obtaining the Graft by Laparoscopy	Not yet recruiting	NCT04314869

Search NIH Clinical Center for Mayer-Rokitansky-Kuster-Hauser Syndrome

Sources

Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome

Genetic tests related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

#	Genetic test	Affiliating Genes
1	Rokitansky Kuster Hauser Syndrome ²⁹

Sources

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

⁴⁰

Uterus, Kidney, Ovary, Heart, Cervix, Bone, Breast

Sources

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

(show top 50) (show all 425)

#	Title	Authors	PMID	Year
1	High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. ⁶¹ ⁵⁶	Nik-Zainal S...Shaw-Smith C	21278390	2011
2	Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. ⁵⁶ ⁶¹	Bernardini L...Dallapiccola B	19889212	2009
3	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. ⁵⁶ ⁶¹	Morcel K...Guerrier D	17359527	2007
4	WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. ⁶¹ ⁵⁶	Biason-Lauber A...Schoenle EJ	16959810	2007
5	The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches. ⁵⁶ ⁶¹	Guerrier D...Pellerin I	16441882	2006
6	Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome. ⁶	Morcel K...Guerrier D	21897448	2012
7	Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome. ⁵⁶	Drummond JB...De Marco L	18001722	2008
8	Genomic imbalances associated with mullerian aplasia. ⁵⁶	Cheroki C...Rosenberg C	18039948	2008
9	Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. ⁵⁶	Philibert P...Sultan C	18182450	2008
10	Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. ⁵⁶	Cheroki C...Otto PA	16691591	2006
11	Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. ⁵⁶	Clement-Ziza M...Nihoul-Fekete C	16007613	2005
12	Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. ⁵⁶	Timmreck LS...Reindollar RH	12794695	2003
13	Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. ⁵⁶	Ogata T...Nagai T	11115062	2000
14	Defects of urogenital development in mice lacking Emx2. ⁵⁶	Miyamoto N...Aizawa S	9165114	1997
15	Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum? ⁵⁶	Bau CH...Flores RZ	8116669	1994
16	Familial occurrence of hereditary renal adysplasia with müllerian anomalies. ⁵⁶	Battin J...Leng JJ	8462192	1993
17	Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum? ⁵⁶	Wulfsberg EA...Grigbsy TM	2240024	1990
18	Müllerian aplasia associated with maternal deficiency of galactose-1-phosphate uridyl transferase. ⁵⁶	Cramer DW...Reilly R	3036608	1987
19	Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). ⁵⁶	Opitz JM	3591829	1987
20	The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. ⁵⁶	Winer-Muram HT...Cupp C	6742026	1984
21	Renal--skeletal--ear- and facial-anomalies in combination with the Mayer--Rokitansky--Küster (MRK) syndrome. ⁵⁶	Willemsen WN	7173481	1982
22	Reduction in oocyte number following prenatal exposure to a diet high in galactose. ⁵⁶	Chen YT...Schulman JD	7302587	1981
23	Hereditary urogenital adysplasia. ⁵⁶	Schimke RN...King CR	7449179	1980
24	Familial renal agenesis and urogenital malformations. Seminal vesicle cyst and vaginal cyst with bicornuate uterus in siblings. ⁵⁶	Knudsen JB...Emus HC	419378	1979
25	Aplasia of the Müllerian system: evidence for probable sex-limited autosomal dominant inheritance. ⁵⁶	Shokeir MH	728579	1978
26	Patterns of anomalies in children with malformed ears. ⁵⁶	Rapin I...Ruben RJ	966914	1976
27	Familial bilateral renal agenesis and hereditary renal adysplasia. ⁵⁶	Buchta RM...Opitz JM	4744207	1973
28	Familial occurrence of congenital absence of the vagina. ⁵⁶	Jones HW...Mermut S	4635205	1972
29	[Familial form of Rokitansky-Kuster-Hauser syndrome]. ⁵⁶	Anger D...Ensel J	5962876	1966
30	One hundred cases of congenital absence of the vagina. ⁵⁶	BRYAN AL...COUNSELLER VS	18104218	1949
31	Typical and atypical pelvic MRI characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a comprehensive analysis of 201 patients. ⁶¹	Wang Y...Jin ZY	32140817	2020
32	Mayer-Rokitansky-Küster-Hauser syndrome with a solitary duplex kidney and anal stenosis: a rare case report. ⁶¹	Bi Y...Li ML	32561448	2020
33	Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases. ⁶¹	Chen N...Zhu L	32448241	2020
34	Sexual function and quality of life after the creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome: comparison of vaginal dilation and surgical procedures. ⁶¹	Kang J...Zhu L	32386614	2020
35	GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. ⁶¹	Jacquinet A...Bours V	32378186	2020
36	Lower urinary tract symptoms in patients with Mayer-Rokitansky-Kuster-Hauser syndrome after neo-vagina creation by Davydov's procedure. ⁶¹	Baruch Y...Salvatore S	32377800	2020
37	Mayer-Rokitansky-Küster-Hauser syndrome as an interdisciplinary problem. ⁶¹	Liszewska-Kaplon M...Hirnle L	32348039	2020
38	Prevascularized Tissue-Engineered Human Vaginal Mucosa: In Vitro Optimization and In Vivo Validation. ⁶¹	Jakubowska W...Bolduc S	32354258	2020
39	Neovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome. ⁶¹	Wang YY...Wang S	32283327	2020
40	Four cases of Mayer-Rokitansky-Küster-Hauser syndrome treated via non-surgical vaginal reconstruction using uterine cervical dilators. ⁶¹	Kawasaki A...Sato T	31854484	2020
41	[Urethral coitus due to congenital abnormality of the genitalia]. ⁶¹	Martens L...Kluivers KB	32267647	2020
42	Anxiety symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a cross-sectional study. ⁶¹	Song S...Zhu L	31977552	2020
43	Postoperative evaluation of chronic pain in patients with Mayer - Rokitansky - Küster - Hauser (MRKH) syndrome and uterine horn remnant: Experience of a tertiary referring gynaecological department. ⁶¹	Dabi Y...Touboul C	31760177	2020
44	Inguinal herniation of left ovary, fallopian tube and rudimentary left horn of bicornuate uterus associated with type 2 Mayer-Rakitansky-Kuster-Hauser (MRKH) syndrome in a teenage girl: A case report and literature review. ⁶¹	Jafari R...Dehghanpoor F	32021881	2020
45	Resilient Customized Hollow Vaginal Stent for the Treatment of Vaginal Agenesis in Mayer-Rokitansky-Kuster-Hauser Syndrome. ⁶¹	Rathee M...Gupta G	32165845	2020
46	Leiomyomas in a case of Mayer-Rokitansky-Kuster-Hauser syndrome: Case report. ⁶¹	Albahlol IA...Abd-Elwahab EM	31706647	2020
47	Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome. ⁶¹	Candiani M...Fedele L	31129299	2020
48	Mayer-Rokitansky-Küster-Hauser syndrome - case studies, methods of treatment and the future prospects of human uterus transplantation. ⁶¹	Pluta D...Madej P	32016956	2020
49	An alternative approach to vaginal dilation in patients with Meyer-Rokitanski-Küster-Hauser syndrome: two case reports. ⁶¹	Ogliari KCM...Araujo Junior E	31994956	2020
50	Feasibility study for performing uterus transplantation in the Netherlands. ⁶¹	Peters HE...Hehenkamp WJK	32128452	2020

Sources

Genes for Mayer-Rokitansky-Kuster-Hauser Syndrome

Genes related to Mayer-Rokitansky-Kuster-Hauser Syndrome (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	H19	H19 Imprinted Maternally Expressed Transcript	RNA Gene	150	Experimental evidence: Epigenetics ³⁸	21458801
2	LHX1	LIM Homeobox 1	Protein Coding	18.11	GeneCards inferred via : Publications Summaries (show sections)
3	WNT4	Wnt Family Member 4	Protein Coding	8.27	GeneCards inferred via : Publications (show sections)
4	DLG1	Discs Large MAGUK Scaffold Protein 1	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
5	GALT	Galactose-1-Phosphate Uridylyltransferase	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
6	HNF1B	HNF1 Homeobox B	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
7	LAMC1	Laminin Subunit Gamma 1	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
8	PAX2	Paired Box 2	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
9	SHOX	Short Stature Homeobox	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
10	TBX3	T-Box Transcription Factor 3	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
11	TBX5	T-Box Transcription Factor 5	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
12	TP63	Tumor Protein P63	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
13	WNT5A	Wnt Family Member 5A	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
14	WNT7A	Wnt Family Member 7A	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
15	WNT9B	Wnt Family Member 9B	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)
16	WT1	WT1 Transcription Factor	Protein Coding	7.57	GeneCards inferred via : Publications (show sections)

Sources

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

ClinVar genetic disease variations for Mayer-Rokitansky-Kuster-Hauser Syndrome:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HNRNPCL1	NM_001013631.2(HNRNPCL1):c.764del (p.Asp255fs)	deletion	Uncertain significance	547869	rs767679031	1:12907379-12907379	1:12847526-12847526
2	WNT4	NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)	SNV	Uncertain significance	587509	rs1334778982	1:22446655-22446655	1:22120162-22120162

Copy number variations for Mayer-Rokitansky-Kuster-Hauser Syndrome from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	109760	17	28800000	35400000	Microdeletion	LHX1	Mayer-Rokitansky-Kuster-Hauser syndrome
2	109761	17	28800000	35400000	Microdeletion	TCF2	Mayer-Rokitansky-Kuster-Hauser syndrome

Sources

Expression for Mayer-Rokitansky-Kuster-Hauser Syndrome

Search GEO for disease gene expression data for Mayer-Rokitansky-Kuster-Hauser Syndrome.

Sources

Pathways for Mayer-Rokitansky-Kuster-Hauser Syndrome

Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Wnt signaling pathway	hsa04310

Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.77	WNT9B WNT7A WNT5A WNT4 LAMC1 DLG1
2	Pathways in cancer ³⁶	12.66	WNT9B WNT7A WNT5A WNT4 LAMC1
3	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.36	TBX3 LHX1 LAMC1 HNF1B
4	mTOR signaling pathway (KEGG) ³⁶ Show member pathways mTOR Signaling ⁶⁴	12.34	WNT9B WNT7A WNT5A WNT4
5	Wnt signaling pathway ³⁶ Show member pathways Wnt Signaling Pathways ⁶⁴	12.29	WNT9B WNT7A WNT5A WNT4
6	WNT Signaling ⁶³	12.2	WNT9B WNT7A WNT5A WNT4 HNF1B
7	Presynaptic function of Kainate receptors ⁶⁵ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁵ Activation of Kainate Receptors upon glutamate binding ⁶⁵ Activation of Na-permeable Kainate Receptors ⁶⁵ Calcitonin-like ligand receptors ⁶⁵ Class B/2 (Secretin family receptors) ⁶⁵ G beta-gamma signalling through PLC beta ⁶⁵ Glucagon-type ligand receptors ⁶⁵ G-Protein Signaling through Tubby Protein ⁶³ Ionotropic activity of Kainate Receptors ⁶⁵	12.17	WNT9B WNT7A WNT5A WNT4 DLG1
8	Translation Non-genomic (rapid) action of Androgen Receptor ²² Show member pathways Basal cell carcinoma ³⁶ Transcription Androgen Receptor nuclear signaling ²²	12.15	WNT9B WNT7A WNT5A WNT4
9	Proteoglycans in cancer ³⁶	12.12	WNT9B WNT7A WNT5A WNT4
10	Wnt Signaling Pathway and Pluripotency ¹ Show member pathways Wnt Signaling Pathway ¹	12.05	WNT9B WNT7A WNT5A WNT4
11	Colorectal Cancer Metastasis ⁶³	12	WNT9B WNT7A WNT5A WNT4
12	Presenilin-Mediated Signaling ⁶³	11.89	WNT9B WNT7A WNT5A WNT4
13	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	11.88	WNT9B WNT7A WNT5A WNT4 TBX5 HNF1B
14	Hippo signaling pathway ³⁶	11.85	WNT9B WNT7A WNT5A WNT4 DLG1
15	DNA Damage Response (only ATM dependent) ¹	11.82	WNT7A WNT5A WNT4
16	Signaling pathways regulating pluripotency of stem cells ³⁶	11.71	WNT9B WNT7A WNT5A WNT4 TBX3
17	Non-Canonical Wnt Pathway ⁶⁶	11.69	WNT7A WNT5A WNT4
18	WNT ligand biogenesis and trafficking ⁶⁵ Show member pathways WNT ligand secretion is abrogated by the PORCN inhibitor LGK974 ⁶⁵ Wnt Pathway ⁷⁰	11.36	WNT9B WNT7A WNT5A WNT4
19	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁴	11.22	WT1 WNT5A TP63 TBX5 PAX2 HNF1B
20	Wnt signaling network ¹	11.05	WNT7A WNT5A
21	Negative regulation of TCF-dependent signaling by WNT ligand antagonists ⁶⁵ Show member pathways Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling ⁶⁵	10.91	WNT5A WNT4

Sources

GO Terms for Mayer-Rokitansky-Kuster-Hauser Syndrome

Cellular components related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:0005788	9.56	WNT7A WNT5A WNT4 LAMC1
2	Golgi lumen	GO:0005796	9.5	WNT7A WNT5A WNT4
3	extracellular matrix	GO:0031012	9.46	WNT7A WNT5A WNT4 LAMC1
4	nuclear chromatin	GO:0000790	9.17	TP63 TBX5 TBX3 SHOX PAX2 LHX1
5	endocytic vesicle membrane	GO:0030666	9.13	WNT7A WNT5A WNT4

Biological processes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 78)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription, DNA-templated	GO:0006355	10.27	WT1 TP63 TBX5 TBX3 SHOX PAX2
2	negative regulation of transcription by RNA polymerase II	GO:0000122	10.17	WT1 TP63 TBX5 TBX3 HNF1B DLG1
3	positive regulation of cell proliferation	GO:0008284	10.11	WNT7A WNT5A TBX3 PAX2 DLG1
4	negative regulation of apoptotic process	GO:0043066	10.07	WT1 WNT7A WNT5A TBX3 PAX2 HNF1B
5	negative regulation of transcription, DNA-templated	GO:0045892	10.02	WT1 WNT5A WNT4 TP63 TBX3 PAX2
6	multicellular organism development	GO:0007275	10.02	WNT9B WNT7A WNT5A WNT4 TP63 TBX5
7	Wnt signaling pathway	GO:0016055	10	WNT9B WNT7A WNT5A WNT4
8	positive regulation of transcription by RNA polymerase II	GO:0045944	9.96	WT1 WNT7A WNT5A TP63 TBX5 TBX3
9	animal organ morphogenesis	GO:0009887	9.95	TP63 TBX3 LHX1 LAMC1
10	skeletal system development	GO:0001501	9.93	TP63 TBX3 SHOX
11	anterior/posterior pattern specification	GO:0009952	9.91	WNT5A LHX1 HNF1B
12	male gonad development	GO:0008584	9.91	WT1 WNT5A WNT4
13	neuron differentiation	GO:0030182	9.91	WNT9B WNT7A WNT5A WNT4 LHX1
14	axonogenesis	GO:0007409	9.9	WNT7A WNT5A PAX2
15	Wnt signaling pathway, planar cell polarity pathway	GO:0060071	9.9	WNT9B WNT7A WNT5A
16	cellular response to retinoic acid	GO:0071300	9.88	WNT9B WNT5A PAX2
17	positive regulation of epithelial cell proliferation	GO:0050679	9.87	WNT5A PAX2 LAMC1
18	cellular response to transforming growth factor beta stimulus	GO:0071560	9.87	WNT7A WNT5A WNT4
19	embryonic digit morphogenesis	GO:0042733	9.86	WNT7A WNT5A TBX3
20	canonical Wnt signaling pathway	GO:0060070	9.86	WNT9B WNT7A WNT5A WNT4
21	pattern specification process	GO:0007389	9.85	TP63 TBX5 LHX1
22	cell fate commitment	GO:0045165	9.85	WNT9B WNT7A WNT5A WNT4
23	ureteric bud development	GO:0001657	9.83	WT1 LHX1 DLG1
24	kidney development	GO:0001822	9.83	WT1 WNT9B WNT4 LHX1 HNF1B
25	endoderm development	GO:0007492	9.81	LHX1 LAMC1 HNF1B
26	embryonic hindlimb morphogenesis	GO:0035116	9.8	WNT7A TP63 TBX3
27	embryonic limb morphogenesis	GO:0030326	9.8	WNT7A WNT5A TP63 TBX5
28	branching morphogenesis of an epithelial tube	GO:0048754	9.77	WNT9B WNT4 HNF1B
29	non-canonical Wnt signaling pathway	GO:0035567	9.76	WNT7A WNT5A WNT4
30	limb morphogenesis	GO:0035108	9.75	WNT5A TBX3
31	cochlea morphogenesis	GO:0090103	9.75	WNT5A PAX2
32	cardiac muscle cell differentiation	GO:0055007	9.75	TBX5 TBX3
33	negative regulation of fibroblast growth factor receptor signaling pathway	GO:0040037	9.75	WNT5A WNT4
34	morphogenesis of an epithelium	GO:0002009	9.75	WNT5A TBX5
35	adrenal gland development	GO:0030325	9.75	WT1 WNT4
36	male genitalia development	GO:0030539	9.75	WT1 WNT9B TBX3
37	sex differentiation	GO:0007548	9.74	WNT7A WNT4
38	regulation of postsynapse organization	GO:0099175	9.74	WNT7A WNT5A
39	positive regulation of branching involved in ureteric bud morphogenesis	GO:0090190	9.74	PAX2 LHX1
40	post-anal tail morphogenesis	GO:0036342	9.74	WNT5A TP63
41	anatomical structure formation involved in morphogenesis	GO:0048646	9.74	TP63 LHX1
42	establishment of planar polarity	GO:0001736	9.74	WNT5A TP63
43	uterus development	GO:0060065	9.74	WNT7A WNT5A LHX1
44	urogenital system development	GO:0001655	9.73	PAX2 LHX1
45	presynapse assembly	GO:0099054	9.73	WNT7A WNT5A
46	secondary palate development	GO:0062009	9.73	WNT7A WNT5A
47	forelimb morphogenesis	GO:0035136	9.72	TBX5 TBX3
48	primitive streak formation	GO:0090009	9.72	WNT5A LHX1
49	vagina development	GO:0060068	9.72	WNT5A LHX1
50	midbrain dopaminergic neuron differentiation	GO:1904948	9.71	WNT9B WNT5A

Molecular functions related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	10.08	WT1 TP63 TBX5 TBX3 SHOX PAX2
2	sequence-specific DNA binding	GO:0043565	9.87	WT1 TP63 TBX5 TBX3 SHOX LHX1
3	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.86	WT1 TP63 TBX5 TBX3 SHOX PAX2
4	signaling receptor binding	GO:0005102	9.83	WNT9B WNT7A WNT5A WNT4
5	RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	9.81	TBX5 TBX3 LHX1 HNF1B
6	transcription regulatory region sequence-specific DNA binding	GO:0000976	9.8	WT1 WNT5A TP63 PAX2
7	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.8	WT1 TP63 TBX5 TBX3 SHOX
8	transcription regulatory region DNA binding	GO:0044212	9.77	WT1 WNT5A TP63 PAX2 HNF1B
9	cytokine activity	GO:0005125	9.73	WNT9B WNT7A WNT5A WNT4
10	proximal promoter sequence-specific DNA binding	GO:0000987	9.63	PAX2 LHX1 HNF1B
11	frizzled binding	GO:0005109	9.46	WNT9B WNT7A WNT5A WNT4
12	DNA-binding transcription factor activity	GO:0003700	9.28	WT1 WNT5A TP63 TBX5 TBX3 SHOX
13	receptor ligand activity	GO:0048018	9.26	WNT9B WNT7A WNT5A WNT4

Sources

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mayer-Rokitansky-Kuster-Hauser Syndrome (RKH SYNDROME)

Aliases & Classifications for Mayer-Rokitansky-Kuster-Hauser Syndrome

MalaCards integrated aliases for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

Symptoms & Phenotypes for Mayer-Rokitansky-Kuster-Hauser Syndrome

Human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

Drugs & Therapeutics for Mayer-Rokitansky-Kuster-Hauser Syndrome

Drugs for Mayer-Rokitansky-Kuster-Hauser Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome

Genetic tests related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

Genes for Mayer-Rokitansky-Kuster-Hauser Syndrome

Genes related to Mayer-Rokitansky-Kuster-Hauser Syndrome (0 elite genes):

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

ClinVar genetic disease variations for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Copy number variations for Mayer-Rokitansky-Kuster-Hauser Syndrome from CNVD:

Expression for Mayer-Rokitansky-Kuster-Hauser Syndrome

Pathways for Mayer-Rokitansky-Kuster-Hauser Syndrome

Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to KEGG:

Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

GO Terms for Mayer-Rokitansky-Kuster-Hauser Syndrome

Cellular components related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome