Atypical Mayer-Rokitansky-Küster-Hauser syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MULLERIAN DUCT FAILURE AND HYPERANDROGENISM
Atypical Rokitansky syndrome
WNT4 deficiency
Atypical MRKH syndrome
Number of Symptoms 20
OrphanetNr: 247768
OMIM Id: 158330
ICD-10: Q51.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mayer-Rokitansky-Küster-Hauser syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare renal disease
 -Rare urogenital disease
Syndrome with 46,XX disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000141) Amenorrhea hallmark [HPO] 16 / 7739
2
 (HPO:0000869) Secondary amenorrhea 42 / 7739
3
 (HPO:0000151) Aplasia of the uterus hallmark [HPO] 12 / 7739
4
 (HPO:0000122) Unilateral renal agenesis rare [HPO] 24 / 7739
5
 (HPO:0003250) Aplasia of the vagina hallmark [HPO] 6 / 7739
6
 (HPO:0000786) Primary amenorrhea 61 / 7739
7
 (HPO:0008655) Aplasia/Hypoplasia of the fallopian tube hallmark [HPO] 1 / 7739
8
 (HPO:0001007) Hirsutism hallmark [HPO] 91 / 7739
9
 (HPO:0001061) Acne common [HPO] 33 / 7739
10
 (OMIM) Elevated androstenedione 1 / 7739
11
 (OMIM) Unilateral renal aplasia (rare) 1 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Absent or rudimentary uterus 1 / 7739
14
 (OMIM) Aplasia of Mullerian duct derivatives 2 / 7739
15
 (OMIM) Functional ovaries 2 / 7739
16
 (OMIM) Elevated testosterone 1 / 7739
17
 (OMIM) Absent or rudimentary vagina 1 / 7739
18
 (OMIM) Normal external genitalia 2 / 7739
19
 (OMIM) Dysgenesis of Mullerian duct derivatives 2 / 7739
20
 (MedDRA:10065597) Hyperandrogenism 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Biason-Lauber et al. (2004) reported an 18-year-old 46,XX woman, referred for evaluation of primary amenorrhea, who on examination had normal height and weight, acne, Tanner stage 5 pubic hair and breasts with a clitoris of normal size, and ...
Molecular genetics OMIM In an 18-year-old woman with mullerian duct regression, unilateral renal agenesis, and virilization, who was negative for mutation in TCF2 (see 189907.0002), Biason-Lauber et al. (2004) identified a heterozygous missense mutation in the WNT4 gene (E226G; 603490.0001) The ...