Usher Syndrome, Type Id disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Usher Syndrome, Type Id

MalaCards integrated aliases for Usher Syndrome, Type Id:

Name: Usher Syndrome, Type Id ⁵⁷ ⁷¹

Usher Syndrome Type 1d ¹¹ ²⁸ ⁵ ¹⁴

Usher Syndrome, Type 1d ⁵⁷ ⁷⁵ ¹²

Ush1d ⁵⁷ ¹¹ ⁷³

Usher Syndrome, Type Id/f, Digenic ²⁸ ⁵

Usher Syndrome Type Id ¹¹ ⁷³

Usher Syndrome, Type 1d/f Digenic ⁵⁷

Usher Syndrome, Type 1d/f ²⁸

Usher's Syndrome Type 1d ⁷³

Usher's Syndrome Type 1h ⁷³

Usher Syndrome Type Ih ⁷³

Usher Syndrome 1d/f ⁷³

Usher Syndrome 1d ⁷³

Usher Syndrome 1h ⁷³

Ush1d/f ⁷³

Ush1df ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
allelic to deafness, autosomal recessive 12
second most common form of usher syndrome type i
digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 genes

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹¹ DOID:0110831

OMIM® ⁵⁷ 601067

OMIM Phenotypic Series ⁵⁷ PS276900

MeSH ⁴³ D052245

ICD10 ³¹ H35.5

MedGen ⁴⁰ C1832845 C3152102 C3275872

SNOMED-CT via HPO ⁶⁹ 103276001 15188001 28835009 more

UMLS ⁷¹ C1832845

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Summaries for Usher Syndrome, Type Id

OMIM®: ⁵⁷ Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see 276900. (601067) (Updated 08-Dec-2022)

MalaCards based summary: Usher Syndrome, Type Id, also known as usher syndrome type 1d, is related to retinal degeneration and dfnb1. An important gene associated with Usher Syndrome, Type Id is CDH23 (Cadherin Related 23), and among its related pathways/superpathways are Olfactory Signaling Pathway and Sensory processing of sound. Affiliated tissues include retina, eye and brain, and related phenotypes are hearing impairment and rod-cone dystrophy

UniProtKB/Swiss-Prot ⁷³ Usher syndrome 1d: USH is 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Usher syndrome 1d/f: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.

Disease Ontology: ¹¹ An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

Wikipedia: ⁷⁵ Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

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Related Diseases for Usher Syndrome, Type Id

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I	Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia	Usher Syndrome, Type Ic
Usher Syndrome, Type Id	Usher Syndrome, Type if
Usher Syndrome, Type Iic	Usher Syndrome, Type Ig
Usher Syndrome, Type Iid	Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib	Usher Syndrome, Type Ij
Usher Syndrome, Type Ik	Usher Syndrome, Type Iv
Usher Syndrome, Type 1m	Usher Syndrome Type 2

Diseases related to Usher Syndrome, Type Id via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)

#	Related Disease	Score	Top Affiliating Genes
1	retinal degeneration	30.5	USH2A USH1C MYO7A CDHR1 CDH23
2	dfnb1	30.1	PCDH15 OTOF MYO7A GJB2
3	usher syndrome, type ic	30.1	USH1C TMC1 PCDH15 MYO7A MYO15A GJB2
4	usher syndrome, type if	30.0	USH1C PCDH15 MYO7A LOC105378311 CDH23 CDH17
5	sensorineural hearing loss	29.7	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
6	deafness, autosomal recessive 1a	29.7	TMC1 SLC26A4 OTOF MYO7A MYO15A GJB2
7	deafness, autosomal recessive 2	29.5	USH1C TMC1 SLC26A4 PCDH15 OTOF MYO7A
8	usher syndrome, type iiia	29.5	USH2A USH1C TMC1 PCDH15 OTOF MYO7A
9	retinitis pigmentosa	29.4	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOF
10	deafness, autosomal recessive 23	29.4	USH2A USH1C TMC1 PCDH15 MYO7A MYO15A
11	usher syndrome, type iia	29.4	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOF
12	usher syndrome	29.3	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
13	rare genetic deafness	29.2	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
14	deafness, autosomal recessive 12	29.2	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOF
15	usher syndrome, type i	29.0	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
16	usher syndrome type 2	28.9	USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
17	usher syndrome, type ih	11.6
18	retinitis pigmentosa-deafness syndrome	10.4	MYO7A CDH23
19	autosomal recessive nonsyndromic deafness 70	10.4	MYO15A CDH23
20	autosomal dominant nonsyndromic deafness 78	10.3	OTOG MYO15A
21	deafness, autosomal recessive 57	10.3	USH1C CDH23
22	deafness, autosomal recessive 7	10.3	USH1C TMC1
23	deafness, autosomal dominant 48	10.3	MYO7A MYO15A
24	acute hemorrhagic leukoencephalitis	10.3	MYO7A CDH23
25	deafness, autosomal dominant 59	10.3	USH1C GJB2
26	deafness, autosomal dominant 65	10.3	USH1C CDH23
27	deafness, autosomal recessive 66	10.3	PCDH15 OTOG CDH23
28	pituitary adenoma 5, multiple types	10.3	CDH23 C10orf105
29	deafness, autosomal recessive 84a	10.3	MYO15A CDH23
30	deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome	10.3	PCDH15 MYO7A CDH23
31	deafness, autosomal recessive 3	10.3	MYO7A MYO15A GJB2
32	deafness, autosomal recessive 91	10.3	GJB2 CDH23
33	deafness, autosomal recessive 17	10.3	USH1C GJB2
34	cone-rod dystrophy 15	10.3	CDHR1 CDH17
35	usher syndrome, type ig	10.3	USH1C MYO7A CDH23
36	deafness, autosomal recessive 25	10.3	USH1C MYO15A
37	deafness, autosomal recessive 6	10.3	USH1C TMC1 CDH23
38	deafness, autosomal recessive 79	10.3	MYO15A GJB2 CDH23
39	toxic labyrinthitis	10.3	TMC1 SLC26A4
40	deafness and myopia	10.3	MYO7A MYO15A GJB2
41	deafness, autosomal dominant 2b	10.3	SLC26A4 GJB2
42	deafness, autosomal recessive 67	10.3	TMC1 PCDH15 CDH23
43	deafness, autosomal dominant 17	10.3	MYO7A MYO15A GJB2
44	deafness, autosomal dominant 6	10.3	SLC26A4 GJB2 CDH23
45	peripheral retinal degeneration	10.3
46	deafness, autosomal recessive 15	10.3	USH1C MYO15A GJB2
47	deafness, autosomal dominant 1, with or without thrombocytopenia	10.3	MYO7A MYO15A GJB2
48	deafness, autosomal recessive 77	10.3	SLC26A4 GJB2 CDH23
49	deafness, autosomal recessive 93	10.3	OTOF GJB2
50	deafness, autosomal recessive 35	10.3	OTOF MYO15A CDH23

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

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Symptoms & Phenotypes for Usher Syndrome, Type Id

Human phenotypes related to Usher Syndrome, Type Id:

³⁰

#	Description	HPO Source Accession
1	hearing impairment ³⁰	HP:0000365
2	rod-cone dystrophy ³⁰	HP:0000510
3	vestibular dysfunction ³⁰	HP:0001751

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Ears:
vestibular dysfunction
hearing loss, congenital profound

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

601067 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Usher Syndrome, Type Id:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.97	ARHGEF40 CDH23 GJB2 MYO15A MYO7A OTOF
2	hearing/vestibular/ear	MP:0005377	9.73	CDH23 GJB2 MYO15A MYO7A OTOF OTOG
3	vision/eye	MP:0005391	9.28	ARHGEF40 CDH23 CDHR1 GJB2 MYO15A MYO7A

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Drugs & Therapeutics for Usher Syndrome, Type Id

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

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Genetic Tests for Usher Syndrome, Type Id

Genetic tests related to Usher Syndrome, Type Id:

#	Genetic test	Affiliating Genes
1	Usher Syndrome Type 1d ²⁸	CDH23 PCDH15
2	Usher Syndrome, Type 1d/f ²⁸
3	Usher Syndrome, Type Id/f, Digenic ²⁸

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Anatomical Context for Usher Syndrome, Type Id

Organs/tissues related to Usher Syndrome, Type Id:

MalaCards : Retina, Eye, Brain, Bone

ODiseA: Brain

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Publications for Usher Syndrome, Type Id

Articles related to Usher Syndrome, Type Id:

(show top 50) (show all 64)

#	Title	Authors	PMID	Year
1	Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. ⁶² ⁵⁷ ⁵	Schultz JM...Friedman TB	21940737	2011
2	Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. ⁶² ⁵⁷ ⁵	Bolz H...Kubisch C	11138009	2001
3	Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. ⁵⁷ ⁵	Zheng QY...Liu XZ	15537665	2005
4	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. ⁶² ⁵	Ouyang XM...Liu XZ	15660226	2005
5	CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. ⁶² ⁵	Astuto LM...Kimberling WJ	12075507	2002
6	Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. ⁶² ⁵	Bork JM...Morell RJ	11090341	2001
7	Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. ⁶² ⁵⁷	Di Palma F...Noben-Trauth K	11138008	2001
8	Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. ⁶² ⁵⁷	Wayne S...Smith RJ	8894709	1996
9	Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. ⁵	Ellingford JM...Black GC	26872967	2016
10	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁵	Xiong HY...Frey BJ	25525159	2015
11	Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. ⁵	Perreault-Micale C...Greger V	25307757	2014
12	Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. ⁵	Shearer AE...Smith RJ	25262649	2014
13	Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. ⁵	Aparisi MJ...Millan JM	23451239	2013
14	Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. ⁵	Jaijo T...Kimberling WJ	22815625	2012
15	Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. ⁵	Kimberling WJ...Smith RJ	20613545	2010
16	Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. ⁵	Ahmed ZM...Friedman TB	18719945	2008
17	The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. ⁵	Brownstein Z...Avraham KB	15028842	2004
18	A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. ⁵	Ben-Yosef T...Friedman TB	12711741	2003
19	Usher syndrome: an otoneurologic study. ⁵⁷	Moller CG...Grissom TJ	2909824	1989
20	Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions. ⁶²	Yusuf IH...Charbel Issa P	35066146	2022
21	Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. ⁶²	Usami SI...Nishio SY	35020051	2022
22	[Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F]. ⁶²	Kang H...Kong X	34625930	2021
23	Rbm24 regulates inner-ear-specific alternative splicing and is essential for maintaining auditory and motor coordination. ⁶²	Zheng L...Xu XQ	32887533	2021
24	Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss. ⁶²	Ramzan K...Imtiaz F	33316915	2020
25	[Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene]. ⁶²	Chen B...Xu HE	32911884	2020
26	In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss. ⁶²	Al-Kindi MN...Al-Wardy NM	32115674	2020
27	Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient. ⁶²	Zhang L...Fu J	32425987	2020
28	A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1. ⁶²	Menghini M...MacLaren RE	31755791	2019
29	Triple Vectors Expand AAV Transfer Capacity in the Retina. ⁶²	Maddalena A...Auricchio A	29292161	2018
30	Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ⁶²	Schietroma C...Petit C	28495838	2017
31	CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence? ⁶²	Noonan KY...Saunders JE	27631835	2016
32	Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3's Function. ⁶²	Takahashi S...Zheng J	27349180	2016
33	Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. ⁶²	Branson SV...John VJ	26878454	2016
34	High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. ⁶²	Mizutari K...Matsunaga T	25963016	2015
35	Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice. ⁶²	Miyasaka Y...Kikkawa Y	24172198	2013
36	The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells. ⁶²	Glover G...Nicolson T	22977299	2012
37	An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. ⁶²	Manji SS...Dahl HH	21689626	2011
38	Ca2+ homeostasis defects and hereditary hearing loss. ⁶²	Mammano F	21698697	2011
39	Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. ⁶²	Caberlotto E...Petit C	21436032	2011
40	An update on the genetics of usher syndrome. ⁶²	Millan JM...Ayuso C	21234346	2011
41	Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. ⁶²	Lagziel A...Friedman TB	19756182	2009
42	Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. ⁶²	Ammar-Khodja F...Roux AF	19375528	2009
43	A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. ⁶²	Schwander M...Muller U	19270079	2009
44	Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. ⁶²	Oshima A...Kimberling WJ	18429043	2008
45	Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. ⁶²	Becirovic E...Bolz HJ	18273900	2008
46	Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. ⁶²	Wagatsuma M...Usami S	17850630	2007
47	Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. ⁶²	Reiners J...Wolfrum U	16545802	2006
48	Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. ⁶²	Yonezawa S...Nakayama A	16281288	2006
49	Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. ⁶²	Bolz H...Gal A	16288196	2005
50	Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). ⁶²	Reiners J...Wolfrum U	15928608	2005

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Genes for Usher Syndrome, Type Id

Genes related to Usher Syndrome, Type Id (5 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CDH23	Cadherin Related 23	Protein Coding	1341.33	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	11090341 11138009 12075507 (more) 15537665 20613545 21940737 23451239
2	PCDH15	Protocadherin Related 15	Protein Coding	1332.3	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12711741 15028842 15537665 (more) 15660226 22815625 25262649 25307757 25525159 26872967 18719945
3	C10orf105	Chromosome 10 Open Reading Frame 105	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	11090341 11138009 20613545 (more) 21940737
4	CDH23-AS1	CDH23 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	12075507 15537665
5	LOC105378311	Uncharacterized LOC105378311	RNA Gene	400	Pathogenic ⁵
6	LOC111982869	Sharpr-MPRA Regulatory Region 2121	Functional Element	25	Likely pathogenic ⁵
7	CFAP47	Cilia And Flagella Associated Protein 47	Protein Coding	13.52	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
8	MYO7A	Myosin VIIA	Protein Coding	7.1	DISEASES inferred ¹⁴
9	MYO15A	Myosin XVA	Protein Coding	6.44	DISEASES inferred ¹⁴
10	USH1C	USH1 Protein Network Component Harmonin	Protein Coding	6.41	DISEASES inferred ¹⁴
11	OTOG	Otogelin	Protein Coding	5.88	DISEASES inferred ¹⁴
12	CDH17	Cadherin 17	Protein Coding	5.88	DISEASES inferred ¹⁴
13	GJB2	Gap Junction Protein Beta 2	Protein Coding	5.86	DISEASES inferred ¹⁴
14	CDHR1	Cadherin Related Family Member 1	Protein Coding	5.84	DISEASES inferred ¹⁴
15	TMTC4	Transmembrane O-Mannosyltransferase Targeting Cadherins 4	Protein Coding	5.82	DISEASES inferred ¹⁴
16	ARHGEF40	Rho Guanine Nucleotide Exchange Factor 40	Protein Coding	5.77	DISEASES inferred ¹⁴
17	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	5.76	DISEASES inferred ¹⁴
18	OTOF	Otoferlin	Protein Coding	5.72	DISEASES inferred ¹⁴
19	TMC1	Transmembrane Channel Like 1	Protein Coding	5.52	DISEASES inferred ¹⁴
20	USH2A	Usherin	Protein Coding	5.49	DISEASES inferred ¹⁴
21	TECTA	Tectorin Alpha	Protein Coding	5.44	DISEASES inferred ¹⁴
22	USH1G	USH1 Protein Network Component Sans	Protein Coding	5.44	DISEASES inferred ¹⁴
23	WHRN	Whirlin	Protein Coding	5.44	DISEASES inferred ¹⁴
24	POU3F4	POU Class 3 Homeobox 4	Protein Coding	5.38	DISEASES inferred ¹⁴
25	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	5.38	DISEASES inferred ¹⁴
26	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	5.38	DISEASES inferred ¹⁴
27	MYO7B	Myosin VIIB	Protein Coding	5.34	DISEASES inferred ¹⁴
28	TPRN	Taperin	Protein Coding	5.32	DISEASES inferred ¹⁴
29	STRC	Stereocilin	Protein Coding	5.28	DISEASES inferred ¹⁴
30	LINC01476	Long Intergenic Non-Protein Coding RNA 1476	RNA Gene	5.15	DISEASES inferred ¹⁴
31	GNAZ	G Protein Subunit Alpha Z	Protein Coding	5.13	DISEASES inferred ¹⁴
32	GJB3	Gap Junction Protein Beta 3	Protein Coding	5.11	DISEASES inferred ¹⁴

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Variations for Usher Syndrome, Type Id

ClinVar genetic disease variations for Usher Syndrome, Type Id:

⁵ (show top 50) (show all 562)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CDH23	NM_022124.6(CDH23):c.1987-1G>A	SNV	Pathogenic	397608	rs1060499714	GRCh37: 10:73447403-73447403 GRCh38: 10:71687646-71687646
2	CDH23	NM_022124.6(CDH23):c.4210-2A>G	SNV	Pathogenic	585306	rs557620034	GRCh37: 10:73498253-73498253 GRCh38: 10:71738496-71738496
3	CDH23	NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)	SNV	Pathogenic	599084	rs1564794944	GRCh37: 10:73550121-73550121 GRCh38: 10:71790364-71790364
4	CDH23, C10orf105	NM_022124.6(CDH23):c.3353del (p.Gly1118fs)	DEL	Pathogenic	1185587		GRCh37: 10:73472553-73472553 GRCh38: 10:71712796-71712796
5	CDH23	NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	SNV	Pathogenic	45943	rs397517329	GRCh37: 10:73498354-73498354 GRCh38: 10:71738597-71738597
6	CDH23	NM_022124.6(CDH23):c.1428dup (p.Thr477fs)	DUP	Pathogenic	423771	rs750803248	GRCh37: 10:73406349-73406350 GRCh38: 10:71646592-71646593
7	CDH23	NM_022124.6(CDH23):c.2289+1G>A	SNV	Pathogenic	504507	rs769433759	GRCh37: 10:73454017-73454017 GRCh38: 10:71694260-71694260
8	CDH23	NM_022124.6(CDH23):c.8239del (p.Val2747fs)	DEL	Pathogenic	522713	rs1554877007	GRCh37: 10:73567094-73567094 GRCh38: 10:71807337-71807337
9	CDH23	NM_022124.6(CDH23):c.6050-9G>A	SNV	Pathogenic	46001	rs367928692	GRCh37: 10:73550880-73550880 GRCh38: 10:71791123-71791123
10	CDH23, C10orf105	NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	SNV	Pathogenic	521399	rs866435331	GRCh37: 10:73472442-73472442 GRCh38: 10:71712685-71712685
11	CDH23	NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)	DUP	Pathogenic	560434	rs1564796487	GRCh37: 10:73552969-73552970 GRCh38: 10:71793212-71793213
12	CDH23	NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)	SNV	Pathogenic	4915	rs121908347	GRCh37: 10:73499529-73499529 GRCh38: 10:71739772-71739772
13	CDH23	NM_022124.6(CDH23):c.7362+5G>A	SNV	Pathogenic	4918	rs727502931	GRCh37: 10:73559391-73559391 GRCh38: 10:71799634-71799634
14	CDH23	NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)	SNV	Pathogenic	693998	rs1230303971	GRCh37: 10:73453933-73453933 GRCh38: 10:71694176-71694176
15	CDH23	NM_022124.6(CDH23):c.945+1G>A	SNV	Pathogenic	585305	rs727502919	GRCh37: 10:73375374-73375374 GRCh38: 10:71615617-71615617
16	PCDH15	NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	SNV	Pathogenic	224747	rs754391973	GRCh37: 10:55721550-55721550 GRCh38: 10:53961790-53961790
17	PCDH15	NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	SNV	Pathogenic	46464	rs202033121	GRCh37: 10:55698632-55698632 GRCh38: 10:53938872-53938872
18	PCDH15	NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	SNV	Pathogenic	177724	rs727504301	GRCh37: 10:55849814-55849814 GRCh38: 10:54090054-54090054
19	PCDH15	NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)	DEL	Pathogenic	931808	rs2094144598	GRCh37: 10:55826582-55826589 GRCh38: 10:54066822-54066829
20	PCDH15	NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)	DEL	Pathogenic	4932	rs199469706	GRCh37: 10:55973706-55973706 GRCh38: 10:54213946-54213946
21	PCDH15, LOC105378311	NM_001384140.1(PCDH15):c.92-528C>T	SNV	Pathogenic	932235	rs190773725	GRCh37: 10:56288165-56288165 GRCh38: 10:54528405-54528405
22	PCDH15	NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)	DEL	Pathogenic	1027565	rs2079481708	GRCh37: 10:55626451-55626452 GRCh38: 10:53866691-53866692
23	PCDH15	NM_001384140.1(PCDH15):c.1441-1G>T	SNV	Pathogenic	1686009		GRCh37: 10:55943354-55943354 GRCh38: 10:54183594-54183594
24	CDH23-AS1, CDH23	NM_022124.6(CDH23):c.193del (p.Leu65fs)	DEL	Pathogenic Pathogenic	4925	rs796051861	GRCh37: 10:73269882-73269882 GRCh38: 10:71510125-71510125
25	PCDH15	NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)	DEL	Pathogenic	46446	rs397517451	GRCh37: 10:56424007-56424007 GRCh38: 10:54664247-54664247
26	CDH23	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	SNV	Pathogenic Pathogenic	4916	rs111033270	GRCh37: 10:73539073-73539073 GRCh38: 10:71779316-71779316
27	CDH23, C10orf105	NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)	MICROSAT	Pathogenic	4917	rs796051860	GRCh37: 10:73491866-73491868 GRCh38: 10:71732109-71732111
28	CDH23, C10orf105	NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)	SNV	Pathogenic	4921	rs121908350	GRCh37: 10:73491908-73491908 GRCh38: 10:71732151-71732151
29	CDH23	NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)	SNV	Pathogenic	4926	rs121908353	GRCh37: 10:73572579-73572579 GRCh38: 10:71812822-71812822
30	CDH23, C10orf105	NM_022124.6(CDH23):c.3428dup (p.His1143fs)	DUP	Pathogenic	560433	rs1253419936	GRCh37: 10:73483859-73483860 GRCh38: 10:71724102-71724103
31	PCDH15	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	SNV	Pathogenic Pathogenic	4933	rs111033260	GRCh37: 10:56077174-56077174 GRCh38: 10:54317414-54317414
32	CDH23-AS1, CDH23	NM_022124.5(CDH23):c.337del	DEL	Pathogenic	1185586		GRCh37: 10:73270876-73270876 GRCh38: 10:71511119-71511119
33	PCDH15	NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	MICROSAT	Pathogenic	46505	rs113363047	GRCh37: 10:55581883-55581885 GRCh38: 10:53822123-53822125
34	CDH23, C10orf105	NM_022124.6(CDH23):c.3431-1G>A	SNV	Likely Pathogenic	1687244		GRCh37: 10:73485128-73485128 GRCh38: 10:71725371-71725371
35	PCDH15	NM_001384140.1(PCDH15):c.3717+1G>T	SNV	Likely Pathogenic	1073476		GRCh37: 10:55626401-55626401 GRCh38: 10:53866641-53866641
36	PCDH15	NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)	SNV	Likely Pathogenic	1723942		GRCh37: 10:55591262-55591262 GRCh38: 10:53831502-53831502
37	PCDH15	NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)	SNV	Likely Pathogenic	1724066		GRCh37: 10:55616996-55616996 GRCh38: 10:53857236-53857236
38	PCDH15	NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)	MICROSAT	Likely Pathogenic	1724143		GRCh37: 10:55591177-55591178 GRCh38: 10:53831417-53831418
39	PCDH15	NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)	MICROSAT	Likely Pathogenic	1724147		GRCh37: 10:55600152-55600153 GRCh38: 10:53840392-53840393
40	PCDH15	NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)	DEL	Likely Pathogenic	1724187		GRCh37: 10:55826532-55826532 GRCh38: 10:54066772-54066772
41	PCDH15	NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)	SNV	Likely Pathogenic	1725956		GRCh37: 10:56138609-56138609 GRCh38: 10:54378849-54378849
42	PCDH15	NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)	DUP	Likely Pathogenic	1726216		GRCh37: 10:55943278-55943279 GRCh38: 10:54183518-54183519
43	PCDH15	NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)	INDEL	Likely Pathogenic	1726277		GRCh37: 10:56077068-56077069 GRCh38: 10:54317308-54317309
44	PCDH15	NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)	DUP	Likely Pathogenic	1726305		GRCh37: 10:55700713-55700714 GRCh38: 10:53940953-53940954
45	PCDH15	NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)	INDEL	Likely Pathogenic	1726321		GRCh37: 10:55721568-55721569 GRCh38: 10:53961808-53961809
46	PCDH15	NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)	INSERT	Likely Pathogenic	1726374		GRCh37: 10:55945011-55945012 GRCh38: 10:54185251-54185252
47	PCDH15	NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)	SNV	Likely Pathogenic	1724809		GRCh37: 10:55719502-55719502 GRCh38: 10:53959742-53959742
48	PCDH15	NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)	MICROSAT	Likely Pathogenic	1724877		GRCh37: 10:55721622-55721623 GRCh38: 10:53961862-53961863
49	PCDH15	NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)	SNV	Likely Pathogenic	1724889		GRCh37: 10:55626506-55626506 GRCh38: 10:53866746-53866746
50	PCDH15	NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)	DEL	Likely Pathogenic	1724992		GRCh37: 10:55955645-55955646 GRCh38: 10:54195885-54195886

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

⁷³ (show all 25)

#	Symbol	AA change	Variation ID	SNP ID
1	CDH23	p.Gln1496His	VAR_012174	rs121908347
2	CDH23	p.Arg1746Gln	VAR_012178	rs111033270
3	CDH23	p.Thr1209Ala	VAR_024031	rs41281314
4	CDH23	p.Arg1507Gln	VAR_024032	rs373480195
5	CDH23	p.Arg3189Trp	VAR_024033	rs121908353
6	CDH23	p.Ser3245Phe	VAR_024034
7	CDH23	p.Glu247Lys	VAR_027318
8	CDH23	p.Ala484Pro	VAR_027321
9	CDH23	p.Pro1206Arg	VAR_027325
10	CDH23	p.Gly2017Ser	VAR_027334	rs183431253
11	CDH23	p.Ser2517Gly	VAR_027340	rs759093040
12	CDH23	p.Gly2744Ser	VAR_027342	rs376189742
13	CDH23	p.Arg2833Gly	VAR_027343	rs760130862
14	CDH23	p.Arg3175His	VAR_027347	rs140884994
15	CDH23	p.His755Tyr	VAR_046407	rs181255269
16	CDH23	p.Val1090Ile	VAR_046410	rs368487578
17	CDH23	p.Asn1098Ser	VAR_046411	rs41281310
18	CDH23	p.Pro1788Leu	VAR_046419	rs564555435
19	CDH23	p.Arg1912Trp	VAR_046423	rs397517344
20	CDH23	p.Asp1930Asn	VAR_046424
21	CDH23	p.Asp2376Val	VAR_046429
22	CDH23	p.Thr2530Ile	VAR_046432	rs781406146
23	CDH23	p.Gly2771Ser	VAR_046434	rs201076440
24	CDH23	p.Val2968Ala	VAR_046437	rs765847991
25	PCDH15	p.Asp178Gly	VAR_069297

Sources

Expression for Usher Syndrome, Type Id

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

Sources

Pathways for Usher Syndrome, Type Id

Pathways related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Olfactory Signaling Pathway ⁶⁶ Show member pathways Expression and translocation of olfactory receptors ⁶⁶ Sensory Perception ⁶⁶	12.91	USH1C TMC1 PCDH15 OTOG OTOF MYO7A
2	Sensory processing of sound ⁶⁶ Show member pathways Acetylcholine inhibits contraction of outer hair cells ⁶⁶ Sensory processing of sound by inner hair cells of the cochlea ⁶⁶ Sensory processing of sound by outer hair cells of the cochlea ⁶⁶	11.53	USH1C TMC1 PCDH15 OTOG OTOF MYO7A
3	Aminoglycoside Ototoxicity Pathway, Adverse Drug Reaction ⁶⁰	10.39	TMC1 PCDH15 CDH23

Sources

GO Terms for Usher Syndrome, Type Id

Cellular components related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016021	10.48	C10orf105 CDH17 CDH23 CDHR1 CFAP47 GJB2
2	membrane	GO:0016020	10.48	C10orf105 CDH17 CDH23 CDHR1 CFAP47 GJB2
3	photoreceptor outer segment	GO:0001750	9.88	USH1C PCDH15 MYO7A
4	stereocilium tip	GO:0032426	9.63	CDH23 TMC1 USH1C
5	stereocilia ankle link complex	GO:0002142	9.56	USH2A USH1C
6	photoreceptor inner segment	GO:0001917	9.56	USH2A USH1C MYO7A CDH23
7	stereocilium bundle	GO:0032421	9.54	USH2A MYO15A
8	stereocilium	GO:0032420	9.32	USH1C PCDH15 MYO7A MYO15A CDH23

Biological processes related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	10.11	PCDH15 CDHR1 CDH23 CDH17
2	visual perception	GO:0007601	10.07	USH2A PCDH15 MYO7A CDH23
3	photoreceptor cell maintenance	GO:0045494	10.02	CDH23 CDHR1 PCDH15 USH1C USH2A
4	inner ear morphogenesis	GO:0042472	9.91	USH1C MYO7A MYO15A CDH23
5	inner ear development	GO:0048839	9.88	PCDH15 MYO7A GJB2 CDH23
6	equilibrioception	GO:0050957	9.86	USH1C PCDH15 MYO7A CDH23
7	auditory receptor cell stereocilium organization	GO:0060088	9.85	CDH23 MYO7A PCDH15
8	post-embryonic animal organ morphogenesis	GO:0048563	9.78	MYO7A CDH23
9	inner ear receptor cell stereocilium organization	GO:0060122	9.77	USH1C PCDH15 MYO7A CDH23
10	inner ear auditory receptor cell differentiation	GO:0042491	9.7	USH2A USH1C PCDH15 MYO7A CDH23
11	sensory perception of sound	GO:0007605	9.68	USH2A USH1C TMTC4 TMC1 SLC26A4 PCDH15
12	inner ear receptor cell differentiation	GO:0060113	9.67	USH2A MYO7A
13	sensory perception of light stimulus	GO:0050953	9.65	CDH23 MYO7A PCDH15 USH1C USH2A

Sources

Sources for Usher Syndrome, Type Id

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

USH1D MCID: USH040 MIFTS: 50	Usher Syndrome, Type Id (USH1D) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Usher Syndrome, Type Id (USH1D)

Aliases & Classifications for Usher Syndrome, Type Id

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Symptoms & Phenotypes for Usher Syndrome, Type Id

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Expression for Usher Syndrome, Type Id

Pathways for Usher Syndrome, Type Id

Pathways related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

GO Terms for Usher Syndrome, Type Id

Cellular components related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

Biological processes related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

Sources for Usher Syndrome, Type Id