Usher syndrome, type 1M(USH1M)

MedGen UID:: 1684669
•Concept ID:: C5231434
•: Disease or Syndrome

Synonyms:	USH1M; USHER SYNDROME, TYPE 1M

Gene (location): Gene(s) directly associated with this condition or phenotype.	ESPN (1p36.31)

Monarch Initiative:	MONDO:0032841
OMIM®:	618632

Definition

Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa (Ahmed et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 (276900). [from OMIM]

Clinical features

From HPO

Left ventricular hypertrophy

MedGen UID:: 57442
•Concept ID:: C0149721
•: Disease or Syndrome

Enlargement or increased size of the heart left ventricle.

See: Feature record | Search on this feature

Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

See: Feature record | Search on this feature

Prelingual sensorineural hearing impairment

MedGen UID:: 867432
•Concept ID:: C4021806
•: Disease or Syndrome

A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.

See: Feature record | Search on this feature

Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

See: Feature record | Search on this feature

Optic disc pallor

MedGen UID:: 108218
•Concept ID:: C0554970
•: Finding

A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.

See: Feature record | Search on this feature

Drusen

MedGen UID:: 488956
•Concept ID:: C1260959
•: Finding

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Abnormality of the eye
Ear malformation
- Abnormal vestibular function
- Prelingual sensorineural hearing impairment

MedGen

National Center for Biotechnology Information

Send to:

Usher syndrome, type 1M(USH1M)

Definition

Clinical features

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity