MCID: MLL011
MIFTS: 27

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 57 25 75 29 13 6 40 73 25 59
Mullerian Duct Failure and Hyperandrogenism 57 75
Wnt4 Deficiency 25 59
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome 25
Wnt4 Müllerian Aplasia and Ovarian Dysfunction 25
Wnt4 Mullerian Aplasia and Ovarian Dysfunction 73
Mayer-Rokitansky-Küster-Hauser-Like Syndrome 25
Müllerian Duct Failure and Hyperandrogenism 59
Biason-Lauber Syndrome 25
Müllerian Duct Failure 25
Wnt4 Müllerian Aplasia 25
Mullapl 75

Characteristics:

Orphanet epidemiological data:

59
müllerian aplasia and hyperandrogenism
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
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 : 75 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 mullerian aplasia. An important gene associated with Mullerian Aplasia and Hyperandrogenism is WNT4 (Wnt Family Member 4). Affiliated tissues include uterus, ovary and cervix, and related phenotypes are hypoplasia of the uterus and renal agenesis

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
2 mullerian aplasia 9.0 LOC105376845 WNT4

Symptoms & Phenotypes for Mullerian Aplasia and Hyperandrogenism

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000013
2 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
3 abnormality of the ovary 59 32 occasional (7.5%) Occasional (29-5%) HP:0000137
4 abnormality of the vagina 59 32 hallmark (90%) Very frequent (99-80%) HP:0000142
5 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
7 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
8 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
9 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
10 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
11 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
12 shield chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000914
13 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
14 acne 59 32 frequent (33%) Very frequent (99-80%) HP:0001061
15 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
16 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
17 frontal balding 59 32 hallmark (90%) Very frequent (99-80%) HP:0002292
18 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
19 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
20 high anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0009890
21 facial hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0009937
22 increased serum testosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030088
23 unilateral renal agenesis 32 occasional (7.5%) HP:0000122
24 amenorrhea 32 hallmark (90%) HP:0000141
25 aplasia of the uterus 32 hallmark (90%) HP:0000151
26 aplasia of the vagina 32 hallmark (90%) HP:0003250
27 aplasia/hypoplasia of the fallopian tube 32 hallmark (90%) HP:0008655

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 29 WNT4

Anatomical Context for Mullerian Aplasia and Hyperandrogenism

MalaCards organs/tissues related to Mullerian Aplasia and Hyperandrogenism:

41
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:

75
# 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.647A> G (p.Glu216Gly) single nucleotide variant Pathogenic rs121908650 GRCh38 Chromosome 1, 22120459: 22120459
3 WNT4 NM_030761.4(WNT4): c.247C> T (p.Arg83Trp) single nucleotide variant Pathogenic rs121908652 GRCh37 Chromosome 1, 22456175: 22456175
4 WNT4 NM_030761.4(WNT4): c.247C> T (p.Arg83Trp) single nucleotide variant Pathogenic rs121908652 GRCh38 Chromosome 1, 22129682: 22129682
5 WNT4 NM_030761.4(WNT4): c.35T> C (p.Leu12Pro) single nucleotide variant Pathogenic rs121908653 GRCh37 Chromosome 1, 22469381: 22469381
6 WNT4 NM_030761.4(WNT4): c.35T> C (p.Leu12Pro) single nucleotide variant Pathogenic rs121908653 GRCh38 Chromosome 1, 22142888: 22142888

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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