Ocular Albinism with Congenital Sensorineural Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ocular Albinism with Congenital Sensorineural Deafness

MalaCards integrated aliases for Ocular Albinism with Congenital Sensorineural Deafness:

Name: Ocular Albinism with Congenital Sensorineural Deafness ⁵⁸

Ocular Albinism with Congenital Sensorineural Hearing Loss ⁵⁸

Waardenburg Syndrome Type 2 with Ocular Albinism ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

ocular albinism with congenital sensorineural deafness
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Albinism

Orphanet: ⁵⁸

Rare eye diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E70.3

Orphanet ⁵⁸ ORPHA352740

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Summaries for Ocular Albinism with Congenital Sensorineural Deafness

MalaCards based summary : Ocular Albinism with Congenital Sensorineural Deafness, also known as ocular albinism with congenital sensorineural hearing loss, is related to albinism, ocular, with late-onset sensorineural deafness and ocular albinism. An important gene associated with Ocular Albinism with Congenital Sensorineural Deafness is TYR (Tyrosinase), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Neural Crest Differentiation. Affiliated tissues include eye, and related phenotypes are craniofacial and hearing/vestibular/ear

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Related Diseases for Ocular Albinism with Congenital Sensorineural Deafness

Diseases in the Ocular Albinism with Congenital Sensorineural Deafness family:

Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases related to Ocular Albinism with Congenital Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)

#	Related Disease	Score	Top Affiliating Genes
1	albinism, ocular, with late-onset sensorineural deafness	31.9	TYR PAX3 MITF
2	ocular albinism	10.0	TYR MITF
3	albinism	10.0	TYR MITF
4	melanoma, cutaneous malignant 8	10.0	TYR MITF
5	epithelioid cell melanoma	9.9	TYR MITF
6	ochronosis	9.9	TYR MITF
7	malignant spindle cell melanoma	9.9	TYR MITF
8	nodular malignant melanoma	9.9	TYR MITF
9	dowling-degos disease 1	9.9	TYR MITF
10	pigmentation disease	9.9	TYR MITF
11	melanoma in congenital melanocytic nevus	9.9	TYR MITF
12	autoimmune disease of skin and connective tissue	9.9	TYR MITF
13	angiomyolipoma	9.9	TYR MITF
14	clear cell sarcoma	9.9	TYR MITF
15	actinic keratosis	9.9	TYR MITF
16	neurilemmoma	9.9	TYR MITF
17	neurofibroma	9.9	TYR MITF
18	vitiligo-associated multiple autoimmune disease susceptibility 1	9.9	TYR MITF
19	oculocutaneous albinism	9.8	TYR MITF
20	waardenburg syndrome, type 2d	9.8	PAX3 MITF
21	waardenburg syndrome, type 4c	9.8	PAX3 MITF
22	melanoma, cutaneous malignant 1	9.8	TYR MITF
23	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	9.8	PAX3 MITF
24	melanoma, uveal	9.8	TYR MITF
25	orbit rhabdomyosarcoma	9.8	TYR PAX3
26	pendred syndrome	9.7	PAX3 MITF
27	rare genetic deafness	9.7	PAX3 MITF
28	retinal disease	9.6	PAX3 MITF
29	hirschsprung disease 1	9.6	PAX3 MITF
30	skin melanoma	9.6	TYR MITF
31	waardenburg syndrome, type 4b	9.5	TYR PAX3 MITF
32	waardenburg syndrome, type 3	9.5	TYR PAX3 MITF
33	tietz albinism-deafness syndrome	9.5	TYR PAX3 MITF
34	waardenburg syndrome, type 2e	9.5	TYR PAX3 MITF
35	waardenburg syndrome, type 2a	9.5	TYR PAX3 MITF
36	waardenburg syndrome, type 1	9.5	TYR PAX3 MITF
37	waardenburg syndrome, type 4a	9.5	TYR PAX3 MITF
38	piebald trait	9.5	TYR PAX3 MITF
39	waardenburg's syndrome	9.5	TYR PAX3 MITF
40	melanoma	9.5	TYR PAX3 MITF
41	microphthalmia	9.5	TYR PAX3 MITF

Graphical network of the top 20 diseases related to Ocular Albinism with Congenital Sensorineural Deafness:

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Symptoms & Phenotypes for Ocular Albinism with Congenital Sensorineural Deafness

MGI Mouse Phenotypes related to Ocular Albinism with Congenital Sensorineural Deafness:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.58	MITF PAX3 TYR
2	hearing/vestibular/ear	MP:0005377	9.54	MITF PAX3 TYR
3	limbs/digits/tail	MP:0005371	9.5	MITF PAX3 TYR
4	no phenotypic analysis	MP:0003012	9.43	MITF PAX3 TYR
5	normal	MP:0002873	9.33	MITF PAX3 TYR
6	pigmentation	MP:0001186	9.13	MITF PAX3 TYR
7	renal/urinary system	MP:0005367	8.8	MITF PAX3 TYR

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Drugs & Therapeutics for Ocular Albinism with Congenital Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Ocular Albinism with Congenital Sensorineural Deafness

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Genetic Tests for Ocular Albinism with Congenital Sensorineural Deafness

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Anatomical Context for Ocular Albinism with Congenital Sensorineural Deafness

MalaCards organs/tissues related to Ocular Albinism with Congenital Sensorineural Deafness:

⁴⁰

Eye

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Publications for Ocular Albinism with Congenital Sensorineural Deafness

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Genes for Ocular Albinism with Congenital Sensorineural Deafness

Genes related to Ocular Albinism with Congenital Sensorineural Deafness (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TYR	Tyrosinase	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶
2	PAX3	Paired Box 3	Protein Coding	400	Pathogenic ⁶
3	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Ocular Albinism with Congenital Sensorineural Deafness

ClinVar genetic disease variations for Ocular Albinism with Congenital Sensorineural Deafness:

⁶ (show all 15)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TYR	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	SNV	Pathogenic	3775	rs121908011	11:88961101-88961101	11:89227933-89227933
2	TYR	NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	SNV	Pathogenic	99541	rs62645916	11:89017955-89017955	11:89284787-89284787
3	TYR	NM_000372.5(TYR):c.1A>G (p.Met1Val)	SNV	Pathogenic	3807	rs28940881	11:88911122-88911122	11:89177954-89177954
4	TYR	NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	SNV	Pathogenic	3790	rs28940879	11:88911285-88911285	11:89178117-89178117
5	TYR	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	SNV	Pathogenic	99565	rs61753256	11:88911467-88911467	11:89178299-89178299
6	PAX3	NM_181458.4(PAX3):c.748dup (p.Glu250fs)	Duplication	Pathogenic	694721	rs1574661904	2:223096840-223096841	2:222232121-222232122
7	TYR	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	SNV	Pathogenic	3774	rs61754388	11:88961072-88961072	11:89227904-89227904
8	TYR	NM_000372.5(TYR):c.1037-7T>A	SNV	Pathogenic	99527	rs61754381	11:88960984-88960984	11:89227816-89227816
9	TYR	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	SNV	Pathogenic	99583	rs62645904	11:88924382-88924382	11:89191214-89191214
10	TYR	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	SNV	Likely pathogenic	3777	rs104894313	11:89017973-89017973	11:89284805-89284805
11	TYR	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	SNV	Likely pathogenic	3773	rs104894314	11:88924373-88924373	11:89191205-89191205
12	TYR	NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	SNV	Likely pathogenic	3795	rs63159160	11:88911770-88911770	11:89178602-89178602
13	TYR	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	SNV	Likely pathogenic	3794	rs61753180	11:88911261-88911261	11:89178093-89178093
14	TYR	NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	SNV	Uncertain significance	418532	rs142170797	11:88924465-88924465	11:89191297-89191297
15	TYR	NM_000372.5(TYR):c.1366+4A>G	SNV	Uncertain significance	99548	rs61754398	11:89018126-89018126	11:89284958-89284958

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Expression for Ocular Albinism with Congenital Sensorineural Deafness

Search GEO for disease gene expression data for Ocular Albinism with Congenital Sensorineural Deafness.

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Pathways for Ocular Albinism with Congenital Sensorineural Deafness

Pathways related to Ocular Albinism with Congenital Sensorineural Deafness according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transcriptional misregulation in cancer ³⁶	11.54	PAX3 MITF
2	Neural Crest Differentiation ¹	11.16	PAX3 MITF
3	Regulation of retinoblastoma protein ¹	10.7	PAX3 MITF
4	Melanocyte Development and Pigmentation ⁶³	10.24	PAX3 MITF

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GO Terms for Ocular Albinism with Congenital Sensorineural Deafness

Biological processes related to Ocular Albinism with Congenital Sensorineural Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	pigmentation	GO:0043473	8.62	TYR MITF

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Sources for Ocular Albinism with Congenital Sensorineural Deafness

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