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Persistent Müllerian duct syndrome
1 OMIM reference -
2 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 1
Loeys-Dietz syndrome type 1
2 OMIM references -
2 associated genes
29 signs/symptoms
Persistent Müllerian duct syndrome
Loeys-Dietz syndrome type 1

AMH
(UniProt - OMIM)
 TGFBR1
(UniProt - OMIM)
AMHR2
(UniProt - OMIM)
 TGFBR2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AMHR2
(0.52)
TGFBR1


Citations in the biomedical literature:


Persistent Müllerian duct syndrome
AMH AMHR2
Loeys-Dietz syndrome type 1
TGFBR1 TGFBR2



Persistent Müllerian duct syndrome
Loeys-Dietz syndrome type 1

Synonym(s):
- PMDS
- Persistent Müllerian derivatives
Synonym(s):
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536665
External references:
2 OMIM references -
No MeSH references
Persistent Müllerian duct syndrome
Loeys-Dietz syndrome type 1

Very frequent
- Autosomal recessive inheritance
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Male pseudohermaphrodism / lack of virilisation



Very frequent
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial aneurism (excluding aorta)
- Arterial rupture
- Autosomal dominant inheritance
- Flat foot
- High vaulted / narrow palate
- Palate anomalies
- Patent ductus arteriosus
- Uterine rupture

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Blue sclerae
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long hand / arachnodactyly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Striae
- Tall stature / gigantism / growth acceleration

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Craniostenosis / craniosynostosis / sutural synostosis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Pectus carinatum
- Pectus excavatum
- Thin skin