MCID: MLL011
MIFTS: 26

Mullerian Aplasia and Hyperandrogenism

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mullerian Aplasia and Hyperandrogenism

MalaCards integrated aliases for Mullerian Aplasia and Hyperandrogenism:

Name: Mullerian Aplasia and Hyperandrogenism 54 24 25 71 29 13 69 25 56
Wnt4 Deficiency 25 56
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome 25
Wnt4 Müllerian Aplasia and Ovarian Dysfunction 25
Wnt4 Mullerian Aplasia and Ovarian Dysfunction 69
Mayer-Rokitansky-Küster-Hauser-Like Syndrome 25
Müllerian Duct Failure and Hyperandrogenism 56
Mullerian Duct Failure and Hyperandrogenism 71
Biason-Lauber Syndrome 25
Müllerian Duct Failure 25
Wnt4 Müllerian Aplasia 25
Mullapl 71

Characteristics:

Orphanet epidemiological data:

56
müllerian aplasia and hyperandrogenism
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
normal female secondary sexual characteristics


HPO:

32
mullerian aplasia and hyperandrogenism:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mullerian Aplasia and Hyperandrogenism

UniProtKB/Swiss-Prot : 71 Mullerian aplasia and hyperandrogenism: A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.

MalaCards based summary : Mullerian Aplasia and Hyperandrogenism, also known as wnt4 deficiency, is related to mayer-rokitansky-kuster-hauser syndrome, and has symptoms including short stature, hirsutism and acne. An important gene associated with Mullerian Aplasia and Hyperandrogenism is WNT4 (Wnt Family Member 4). Affiliated tissues include uterus, ovary and cervix.

Description from OMIM: 158330

Related Diseases for Mullerian Aplasia and Hyperandrogenism

Diseases related to Mullerian Aplasia and Hyperandrogenism via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mayer-rokitansky-kuster-hauser syndrome 11.1

Symptoms & Phenotypes for Mullerian Aplasia and Hyperandrogenism

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
hirsutism

Genitourinary- External Genitalia Female:
normal external genitalia

Genitourinary- Kidneys:
unilateral renal aplasia (rare)

Endocrine Features:
hyperandrogenism
amenorrhea, primary

Head And Neck- Face:
hirsutism

Genitourinary- Internal Genitalia Female:
aplasia of mullerian duct derivatives
dysgenesis of mullerian duct derivatives
absent or rudimentary vagina
absent or rudimentary uterus
functional ovaries

Skin Nails & Hair- Skin:
acne

Laboratory- Abnormalities:
elevated testosterone
elevated androstenedione


Clinical features from OMIM:

158330

Human phenotypes related to Mullerian Aplasia and Hyperandrogenism:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0001007
3 acne 56 32 frequent (33%) Very frequent (99-80%) HP:0001061
4 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
5 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
6 short philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000322
7 facial hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0009937
8 synophrys 56 32 occasional (7.5%) Occasional (29-5%) HP:0000664
9 renal agenesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000104
10 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
11 cubitus valgus 56 32 occasional (7.5%) Occasional (29-5%) HP:0002967
12 high anterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0009890
13 primary amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000786
14 shield chest 56 32 occasional (7.5%) Occasional (29-5%) HP:0000914
15 thick eyebrow 56 32 occasional (7.5%) Occasional (29-5%) HP:0000574
16 abnormality of the ovary 56 32 occasional (7.5%) Occasional (29-5%) HP:0000137
17 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
18 abnormality of the vagina 56 32 hallmark (90%) Very frequent (99-80%) HP:0000142
19 hypoplasia of the uterus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000013
20 frontal balding 56 32 hallmark (90%) Very frequent (99-80%) HP:0002292
21 brachydactyly 32 occasional (7.5%) HP:0001156
22 amenorrhea 32 hallmark (90%) HP:0000141
23 unilateral renal agenesis 32 occasional (7.5%) HP:0000122
24 increased testosterone 56 Very frequent (99-80%)
25 brachydactyly syndrome 56 Occasional (29-5%)
26 aplasia of the uterus 32 hallmark (90%) HP:0000151
27 aplasia/hypoplasia of the fallopian tube 32 hallmark (90%) HP:0008655
28 aplasia of the vagina 32 hallmark (90%) HP:0003250
29 increased serum testosterone level 32 hallmark (90%) HP:0030088

Drugs & Therapeutics for Mullerian Aplasia and Hyperandrogenism

Search Clinical Trials , NIH Clinical Center for Mullerian Aplasia and Hyperandrogenism

Genetic Tests for Mullerian Aplasia and Hyperandrogenism

Genetic tests related to Mullerian Aplasia and Hyperandrogenism:

id Genetic test Affiliating Genes
1 Mullerian Aplasia and Hyperandrogenism 29 24 WNT4

Anatomical Context for Mullerian Aplasia and Hyperandrogenism

MalaCards organs/tissues related to Mullerian Aplasia and Hyperandrogenism:

39
Uterus, Ovary, Cervix

Publications for Mullerian Aplasia and Hyperandrogenism

Variations for Mullerian Aplasia and Hyperandrogenism

UniProtKB/Swiss-Prot genetic disease variations for Mullerian Aplasia and Hyperandrogenism:

71
id Symbol AA change Variation ID SNP ID
1 WNT4 p.Glu216Gly VAR_034703 rs121908650
2 WNT4 p.Leu12Pro VAR_043497 rs121908653
3 WNT4 p.Arg83Cys VAR_043498

ClinVar genetic disease variations for Mullerian Aplasia and Hyperandrogenism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT4 NM_030761.4(WNT4): c.647A> G (p.Glu216Gly) single nucleotide variant Pathogenic rs121908650 GRCh37 Chromosome 1, 22446952: 22446952
2 WNT4 NM_030761.4(WNT4): c.247C> T (p.Arg83Trp) single nucleotide variant Pathogenic rs121908652 GRCh37 Chromosome 1, 22456175: 22456175
3 WNT4 NM_030761.4(WNT4): c.35T> C (p.Leu12Pro) single nucleotide variant Pathogenic rs121908653 GRCh37 Chromosome 1, 22469381: 22469381

Expression for Mullerian Aplasia and Hyperandrogenism

Search GEO for disease gene expression data for Mullerian Aplasia and Hyperandrogenism.

Pathways for Mullerian Aplasia and Hyperandrogenism

GO Terms for Mullerian Aplasia and Hyperandrogenism

Sources for Mullerian Aplasia and Hyperandrogenism

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11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
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32 HPO
33 ICD10
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43 MESH via Orphanet
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52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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