USH1M
MCID: USH046
MIFTS: 15

Usher Syndrome, Type 1m (USH1M)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Usher Syndrome, Type 1m

MalaCards integrated aliases for Usher Syndrome, Type 1m:

Name: Usher Syndrome, Type 1m 56 6
Ush1m 56 73
Usher Syndrome 1m 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated october 2019)


Classifications:



External Ids:

OMIM 56 618632
MeSH 43 D052245
MedGen 41 CN262443

Summaries for Usher Syndrome, Type 1m

UniProtKB/Swiss-Prot : 73 Usher syndrome 1M: A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision.

MalaCards based summary : Usher Syndrome, Type 1m, is also known as ush1m. An important gene associated with Usher Syndrome, Type 1m is ESPN (Espin).

OMIM : 56 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). (618632)

Related Diseases for Usher Syndrome, Type 1m

Symptoms & Phenotypes for Usher Syndrome, Type 1m

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic disc pallor
night blindness
progressive impairment of vision
irregular retinal contour
temporal lipofuscin flecks
more
Head And Neck Ears:
vestibular dysfunction
bilateral prelingual profound sensorineural hearing loss

Clinical features from OMIM:

618632

Drugs & Therapeutics for Usher Syndrome, Type 1m

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type 1m

Genetic Tests for Usher Syndrome, Type 1m

Anatomical Context for Usher Syndrome, Type 1m

Publications for Usher Syndrome, Type 1m

Articles related to Usher Syndrome, Type 1m:

# Title Authors PMID Year
1
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. 61 56 6
29572253 2018

Variations for Usher Syndrome, Type 1m

ClinVar genetic disease variations for Usher Syndrome, Type 1m:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ESPN NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)deletion Pathogenic 560535 rs1557720377 1:6517284-6517301 1:6457224-6457241

Expression for Usher Syndrome, Type 1m

Search GEO for disease gene expression data for Usher Syndrome, Type 1m.

Pathways for Usher Syndrome, Type 1m

GO Terms for Usher Syndrome, Type 1m

Sources for Usher Syndrome, Type 1m

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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