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Myhre syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
Desmoplastic small round cell tumor
2 associated genes
19 signs/symptoms
Myhre syndrome
Desmoplastic small round cell tumor

SMAD4
(UniProt - OMIM)
 EWSR1
(UniProt - OMIM)
WT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMAD4
(0.73)
EWSR1


Citations in the biomedical literature:


Myhre syndrome
SMAD4
Desmoplastic small round cell tumor
EWSR1 WT1



Myhre syndrome
Desmoplastic small round cell tumor

Synonym(s):
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
Synonym(s):
- DSRCT
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D058405
Myhre syndrome
Desmoplastic small round cell tumor

Very frequent
- Anomalies of the ribs
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Hearing loss / hypoacusia / deafness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microstomia / little mouth
- Mid-facial hypoplasia / short / small midface
- Muscle hypertrophy
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Prognathism / prognathia
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short philtrum
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Chronic arterial hypertension
- Epiphyseal anomaly
- Hypermetropia
- Metaphyseal anomaly
- Ptosis
- Thick skin / pachydermia / orange skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Late puberty / hypogonadism / hypogenitalism
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Precocious puberty
- Psychic / behavioural troubles


Very frequent
- Acute abdominal pain / colic
- Digestive neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Peritoneal diseases
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Frequent
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intestinal obstruction / ileus
- Mediastinal / hilar adenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Anaemia
- Ascitis
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Testis anomalies
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy