MCID: OCL062
MIFTS: 23

Ocular Albinism with Congenital Sensorineural Deafness

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

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
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:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA352740

Summaries for Ocular Albinism with Congenital Sensorineural Deafness

MalaCards based summary : Ocular Albinism with Congenital Sensorineural Deafness, also known as waardenburg syndrome type 2 with ocular albinism, 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 skin, and related phenotypes are craniofacial and hearing/vestibular/ear

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 39)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 32.3 TYR PAX3 MITF
2 ocular albinism 9.9 TYR MITF
3 albinism 9.9 TYR MITF
4 epithelioid cell melanoma 9.9 TYR MITF
5 ochronosis 9.9 TYR MITF
6 dowling-degos disease 1 9.9 TYR MITF
7 hypomelanosis of ito 9.9 TYR MITF
8 malignant spindle cell melanoma 9.9 TYR MITF
9 nodular malignant melanoma 9.9 TYR MITF
10 amelanotic melanoma 9.9 TYR MITF
11 angiomyolipoma 9.8 TYR MITF
12 actinic keratosis 9.8 TYR MITF
13 neurilemmoma 9.8 TYR MITF
14 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8 TYR MITF
15 neurofibroma 9.8 TYR MITF
16 oculocutaneous albinism 9.8 TYR MITF
17 lateral displacement of eye 9.8 PAX3 MITF
18 waardenburg syndrome, type 4c 9.8 PAX3 MITF
19 waardenburg syndrome, type 2d 9.8 PAX3 MITF
20 skin melanoma 9.8 MITF TYR
21 waardenburg syndrome, type 2c 9.7 PAX3 MITF
22 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.7 PAX3 MITF
23 waardenburg syndrome, type 2a 9.7 PAX3 MITF
24 waardenburg syndrome, type 3 9.7 PAX3 MITF
25 waardenburg syndrome, type 1 9.7 PAX3 MITF
26 melanoma, cutaneous malignant 1 9.7 TYR MITF
27 waardenburg syndrome, type 4a 9.7 PAX3 MITF
28 melanoma, uveal 9.7 TYR MITF
29 pendred syndrome 9.7 PAX3 MITF
30 rare genetic deafness 9.6 PAX3 MITF
31 nonsyndromic deafness 9.5 PAX3 MITF
32 retinal disease 9.4 PAX3 MITF
33 waardenburg syndrome, type 4b 9.3 TYR PAX3 MITF
34 waardenburg syndrome, type 2e 9.3 TYR PAX3 MITF
35 tietz albinism-deafness syndrome 9.3 TYR PAX3 MITF
36 piebald trait 9.3 TYR PAX3 MITF
37 waardenburg's syndrome 9.3 TYR PAX3 MITF
38 hirschsprung disease 1 9.2 PAX3 MITF
39 microphthalmia 9.2 TYR PAX3 MITF

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



Diseases related to Ocular Albinism with Congenital Sensorineural Deafness

Symptoms & Phenotypes for Ocular Albinism with Congenital Sensorineural Deafness

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.61 MITF PAX3 TYR
2 hearing/vestibular/ear MP:0005377 9.58 MITF PAX3 TYR
3 limbs/digits/tail MP:0005371 9.54 MITF PAX3 TYR
4 no phenotypic analysis MP:0003012 9.5 MITF PAX3 TYR
5 normal MP:0002873 9.43 MITF PAX3 TYR
6 pigmentation MP:0001186 9.33 MITF PAX3 TYR
7 renal/urinary system MP:0005367 9.13 MITF PAX3 TYR
8 vision/eye MP:0005391 8.8 MITF PAX3 TYR

Drugs & Therapeutics for Ocular Albinism with Congenital Sensorineural Deafness

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

Genetic Tests for Ocular Albinism with Congenital Sensorineural Deafness

Anatomical Context for Ocular Albinism with Congenital Sensorineural Deafness

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

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Eye, Skin

Publications for Ocular Albinism with Congenital Sensorineural Deafness

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

Expression for Ocular Albinism with Congenital Sensorineural Deafness

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

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 11.53 PAX3 MITF
2 11.16 PAX3 MITF
3 10.7 PAX3 MITF
4 10.24 PAX3 MITF

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

Sources for Ocular Albinism with Congenital Sensorineural Deafness

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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