MULLAPL
MCID: MLL011
MIFTS: 30

Mullerian Aplasia and Hyperandrogenism (MULLAPL)

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

Aliases & Classifications for Mullerian Aplasia and Hyperandrogenism

MalaCards integrated aliases for Mullerian Aplasia and Hyperandrogenism:

Name: Mullerian Aplasia and Hyperandrogenism 56 12 25 58 73 29 13 6 43 39 71
Mullerian Duct Failure and Hyperandrogenism 56 12 58 73
Wnt4 Deficiency 12 25 58
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome 25
Wnt4 Müllerian Aplasia and Ovarian Dysfunction 25
Wnt4 Mullerian Aplasia and Ovarian Dysfunction 71
Mayer-Rokitansky-Küster-Hauser-Like Syndrome 25
Müllerian Aplasia and Hyperandrogenism 25
Biason-Lauber Syndrome 25
Müllerian Duct Failure 25
Wnt4 Müllerian Aplasia 25
Mullapl 73

Characteristics:

Orphanet epidemiological data:

58
mullerian aplasia and hyperandrogenism
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
normal female secondary sexual characteristics


HPO:

31
mullerian aplasia and hyperandrogenism:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111526
OMIM 56 158330
ICD10 via Orphanet 33 Q51.8
UMLS via Orphanet 72 C2675014
Orphanet 58 ORPHA247768
MedGen 41 C2675014
UMLS 71 C2675014 C3697628

Summaries for Mullerian Aplasia and Hyperandrogenism

Genetics Home Reference : 25 Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile). Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.

MalaCards based summary : Mullerian Aplasia and Hyperandrogenism, also known as mullerian duct failure and hyperandrogenism, is related to mayer-rokitansky-kuster-hauser syndrome and neurofibromatosis, type ii. 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 short stature and acne

Disease Ontology : 12 A sex development disorder characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has material basis in heterozygous mutation in WNT4 on chromosome 1p36.12.

UniProtKB/Swiss-Prot : 73 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.

More information 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 11.8
2 neurofibromatosis, type ii 10.0

Symptoms & Phenotypes for Mullerian Aplasia and Hyperandrogenism

Human phenotypes related to Mullerian Aplasia and Hyperandrogenism:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 acne 58 31 frequent (33%) Very frequent (99-80%) HP:0001061
3 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
4 high anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0009890
5 facial hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0009937
6 increased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030088
7 hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000013
8 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
9 frontal balding 58 31 hallmark (90%) Very frequent (99-80%) HP:0002292
10 aplasia of the uterus 31 hallmark (90%) HP:0000151
11 amenorrhea 31 hallmark (90%) HP:0000141
12 aplasia/hypoplasia of the fallopian tube 31 hallmark (90%) HP:0008655
13 aplasia of the vagina 31 hallmark (90%) HP:0003250
14 abnormal vagina morphology 31 hallmark (90%) HP:0000142
15 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
16 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
17 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
18 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
19 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
21 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
22 abnormality of the ovary 58 31 occasional (7.5%) Occasional (29-5%) HP:0000137
23 cubitus valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002967
24 shield chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000914
25 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
26 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
27 unilateral renal agenesis 31 occasional (7.5%) HP:0000122
28 abnormality of the vagina 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Mullerian Aplasia and Hyperandrogenism

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

Cochrane evidence based reviews: 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:

40
Uterus, Ovary, Cervix, Kidney, Breast

Publications for Mullerian Aplasia and Hyperandrogenism

Articles related to Mullerian Aplasia and Hyperandrogenism:

# Title Authors PMID Year
1
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. 61 56 6
16959810 2007
2
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 6
18182450 2008
3
A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. 56 6
15317892 2004
4
Cell-Intrinsic Wnt4 Influences Conventional Dendritic Cell Fate Determination to Suppress Type 2 Immunity. 61
31175162 2019
5
Wnt4, a pleiotropic signal for controlling cell polarity, basement membrane integrity, and antimüllerian hormone expression during oocyte maturation in the female follicle. 61
24371124 2014
6
WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival. 61
19962424 2010
7
WNT4 and sex development. 61
18987495 2008

Variations for Mullerian Aplasia and Hyperandrogenism

ClinVar genetic disease variations for Mullerian Aplasia and Hyperandrogenism:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT4 NM_030761.5(WNT4):c.647A>G (p.Glu216Gly)SNV Pathogenic 6308 rs121908650 1:22446952-22446952 1:22120459-22120459
2 WNT4 NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)SNV Pathogenic 6310 rs121908652 1:22456175-22456175 1:22129682-22129682
3 WNT4 NM_030761.5(WNT4):c.35T>C (p.Leu12Pro)SNV Pathogenic 6311 rs121908653 1:22469381-22469381 1:22142888-22142888
4 WNT4 NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)SNV Uncertain significance 587509 rs1334778982 1:22446655-22446655 1:22120162-22120162

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

73
# 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

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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