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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Deafness - lymphedema - leukemia

1 OMIM reference -
1 associated gene
29 signs/symptoms

Myhre syndrome

Deafness - lymphedema - leukemia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.86)	GATA2

Citations in the biomedical literature:

Myhre syndrome		Deafness - lymphedema - leukemia
	Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss		Synonym(s): - Emberger syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Myhre syndrome		Deafness - lymphedema - leukemia
	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 leukemia - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Bone marrow failure / pancytopenia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lymphedema - Polynuclear cells / neutrophils anomalies / neutropenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sensorineural deafness / hearing loss - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thrombocytopenia / thrombopenia Frequent - Blood hyperviscosity / hypercoagulability - Bruisability - Chronic / relapsing otitis - Dizziness - Facial pain / cephalalgia / migraine - Fever / chilling - Hepatomegaly / liver enlargement (excluding storage disease) - Intracranial / cerebral / meningeal hemorrhage - Nausea / vomiting / regurgitation / merycism / hyperemesis - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pallor - Repeat respiratory infections - Splenomegaly - Visual loss / blindness / amblyopia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Hyperleukocytosis / leukocytosis - Lymphadenopathy / polyadenopathies - Myeloproliferative syndrome / chronic leukemia