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Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

1 OMIM reference -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Myhre syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Myhre syndrome

MT-CO1	(UniProt - OMIM)	SMAD4	(UniProt - OMIM)
MT-ND4	(UniProt - OMIM)
MT-RNR1	(OMIM)
MT-TS1	(OMIM)
TRMU	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MT-ND4	(0.63)	SMAD4

Citations in the biomedical literature:

Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure		Myhre syndrome
	Synonym(s): - Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure - Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure - Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure - Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure - Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure - Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure - Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure		Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: mitochondrial inheritance		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Myhre syndrome
	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
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
(no data available)