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 53 24 71 28 13 69 24 55
Mullerian Duct Failure and Hyperandrogenism 53 71
Wnt4 Deficiency 24 55
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome 24
Wnt4 Müllerian Aplasia and Ovarian Dysfunction 24
Wnt4 Mullerian Aplasia and Ovarian Dysfunction 69
Mayer-Rokitansky-Küster-Hauser-Like Syndrome 24
Müllerian Duct Failure and Hyperandrogenism 55
Biason-Lauber Syndrome 24
Müllerian Duct Failure 24
Wnt4 Müllerian Aplasia 24
Mullapl 71

Characteristics:

Orphanet epidemiological data:

55
müllerian aplasia and hyperandrogenism
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
normal female secondary sexual characteristics


HPO:

31
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 mullerian duct failure and hyperandrogenism, is related to mayer-rokitansky-kuster-hauser syndrome, and has symptoms including short neck, obesity and thick eyebrow. 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:

# Related Disease Score Top Affiliating Genes
1 mayer-rokitansky-kuster-hauser syndrome 11.2

Symptoms & Phenotypes for Mullerian Aplasia and Hyperandrogenism

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
acne

Skin Nails Hair Hair:
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

Endocrine Features:
hyperandrogenism
amenorrhea, primary

Head And Neck Face:
hirsutism

Genitourinary External Genitalia Female:
normal external genitalia

Genitourinary Kidneys:
unilateral renal aplasia (rare)

Laboratory Abnormalities:
elevated testosterone
elevated androstenedione


Clinical features from OMIM:

158330

Human phenotypes related to Mullerian Aplasia and Hyperandrogenism:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
2 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
3 thick eyebrow 55 31 occasional (7.5%) Occasional (29-5%) HP:0000574
4 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
6 acne 55 31 frequent (33%) Very frequent (99-80%) HP:0001061
7 abnormality of the ovary 55 31 occasional (7.5%) Occasional (29-5%) HP:0000137
8 cubitus valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0002967
9 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
10 shield chest 55 31 occasional (7.5%) Occasional (29-5%) HP:0000914
11 protruding ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000411
12 short philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000322
13 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
14 facial hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0009937
15 abnormality of the vagina 55 31 hallmark (90%) Very frequent (99-80%) HP:0000142
16 synophrys 55 31 occasional (7.5%) Occasional (29-5%) HP:0000664
17 increased serum testosterone level 55 31 hallmark (90%) Very frequent (99-80%) HP:0030088
18 high anterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0009890
19 hypoplasia of the uterus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000013
20 renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000104
21 hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0001007
22 frontal balding 55 31 hallmark (90%) Very frequent (99-80%) HP:0002292
23 unilateral renal agenesis 31 occasional (7.5%) HP:0000122
24 aplasia of the uterus 31 hallmark (90%) HP:0000151
25 amenorrhea 31 hallmark (90%) HP:0000141
26 aplasia/hypoplasia of the fallopian tube 31 hallmark (90%) HP:0008655
27 aplasia of the vagina 31 hallmark (90%) HP:0003250

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:

# Genetic test Affiliating Genes
1 Mullerian Aplasia and Hyperandrogenism 28 WNT4

Anatomical Context for Mullerian Aplasia and Hyperandrogenism

MalaCards organs/tissues related to Mullerian Aplasia and Hyperandrogenism:

38
Uterus, Ovary, Cervix

Publications for Mullerian Aplasia and Hyperandrogenism

Articles related to Mullerian Aplasia and Hyperandrogenism:

# Title Authors Year
1
WNT4 deficiency-a clinical phenotype distinct from the classic Mayer- Rokitansky-Kuster-Hauser syndrome: a case report. ( 16959810 )
2007

Variations for Mullerian Aplasia and Hyperandrogenism

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

71
# 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
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
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58 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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