USH4
MCID: USH045
MIFTS: 26

Usher Syndrome, Type Iv (USH4)

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

Aliases & Classifications for Usher Syndrome, Type Iv

MalaCards integrated aliases for Usher Syndrome, Type Iv:

Name: Usher Syndrome, Type Iv 57 72
Usher Syndrome, Type 4 29 6
Ush4 57 72
Syndrome, Usher, Type Iv 39
Usher Syndrome 4 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of vision and hearing loss occurs around 40 years of age


HPO:

31
usher syndrome, type iv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618144
OMIM Phenotypic Series 57 PS276900
MeSH 44 D052245
SNOMED-CT via HPO 68 258211005 405722004 95695004

Summaries for Usher Syndrome, Type Iv

UniProtKB/Swiss-Prot : 72 Usher syndrome 4: 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 different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive.

MalaCards based summary : Usher Syndrome, Type Iv, also known as usher syndrome, type 4, is related to usher syndrome and usher syndrome, type i. An important gene associated with Usher Syndrome, Type Iv is ARSG (Arylsulfatase G). Affiliated tissues include eye and bone, and related phenotypes are progressive sensorineural hearing impairment and retinal atrophy

OMIM® : 57 An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900. (618144) (Updated 20-May-2021)

Related Diseases for Usher Syndrome, Type Iv

Graphical network of the top 20 diseases related to Usher Syndrome, Type Iv:



Diseases related to Usher Syndrome, Type Iv

Symptoms & Phenotypes for Usher Syndrome, Type Iv

Human phenotypes related to Usher Syndrome, Type Iv:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408
2 retinal atrophy 31 HP:0001105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nyctalopia
peripheral vision loss
retinitis pigmentosa, late onset
retinal atrophy, ring-shaped
bone-spicule-like pigmentary changes
more
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe, late onset)
no vestibular abnormalities

Clinical features from OMIM®:

618144 (Updated 20-May-2021)

Drugs & Therapeutics for Usher Syndrome, Type Iv

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Iv

Genetic Tests for Usher Syndrome, Type Iv

Genetic tests related to Usher Syndrome, Type Iv:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 4 29 ARSG

Anatomical Context for Usher Syndrome, Type Iv

MalaCards organs/tissues related to Usher Syndrome, Type Iv:

40
Eye, Bone

Publications for Usher Syndrome, Type Iv

Articles related to Usher Syndrome, Type Iv:

# Title Authors PMID Year
1
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. 61 57 6
33300174 2021
2
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome. 57 6
33629623 2021
3
Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4. 57 6
32455177 2020
4
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 57 6
29300381 2018

Variations for Usher Syndrome, Type Iv

ClinVar genetic disease variations for Usher Syndrome, Type Iv:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARSG NM_014960.5(ARSG):c.133G>T (p.Asp45Tyr) SNV Pathogenic 585252 rs1568445893 GRCh37: 17:66303767-66303767
GRCh38: 17:68307626-68307626
2 ARSG , PRKAR1A NM_001267727.2(ARSG):c.1326del (p.Ser443fs) Deletion Pathogenic 992583 GRCh37: 17:66416350-66416350
GRCh38: 17:68420209-68420209
3 ARSG NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp) SNV Pathogenic 992638 GRCh37: 17:66339864-66339864
GRCh38: 17:68343723-68343723
4 ARSG NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro) SNV Pathogenic 961169 GRCh37: 17:66339779-66339779
GRCh38: 17:68343638-68343638
5 ARSG NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn) SNV Pathogenic 1002820 GRCh37: 17:66303764-66303764
GRCh38: 17:68307623-68307623
6 ARSG NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys) SNV Pathogenic 1065124 GRCh37: 17:66397558-66397558
GRCh38: 17:68401417-68401417

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Iv:

72
# Symbol AA change Variation ID SNP ID
1 ARSG p.Asp45Tyr VAR_081577

Expression for Usher Syndrome, Type Iv

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

Pathways for Usher Syndrome, Type Iv

GO Terms for Usher Syndrome, Type Iv

Sources for Usher Syndrome, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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