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Atypical Mayer-Rokitansky-Küster-Hauser syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
1 associated gene
21 signs/symptoms
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

WNT4
(UniProt - OMIM)
 PTEN
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WNT4
(0.63)
PTEN


Citations in the biomedical literature:


Atypical Mayer-Rokitansky-Küster-Hauser syndrome
WNT4
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN



Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

Synonym(s):
- Atypical MRKH syndrome
- Atypical Rokitansky syndrome
- WNT4 deficiency
Synonym(s):
- SOLAMEN syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease
- Rare urogenital disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Follicular / erythematous / edematous papules / milium
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Rippled skin
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Talipes-varus / metatarsal varus
- Thyroid neoplasm / tumor / carcinoma / cancer
- Visceral angiomatosis (excluding skin)


Atypical Mayer-Rokitansky-Küster-Hauser syndrome

(no data available)