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

OASD MCID: ALB025 MIFTS: 49	Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards integrated aliases for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Name: Albinism, Ocular, with Late-Onset Sensorineural Deafness ⁵⁶ ⁷¹

Ocular Albinism with Sensorineural Deafness ⁵⁶ ¹² ⁵² ¹³ ¹⁵

Albinism, Ocular, with Sensorineural Deafness ²⁹ ⁶ ³⁹ ⁷¹

Ocular Albinism with Late-Onset Sensorineural Deafness ⁵⁸ ²⁹

Deafness and Ocular Albinism ⁵⁶ ⁵²

Ws2-Oa ¹² ⁷³

Oasd ⁵⁶ ⁵²

Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism ¹²

Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive ⁷³

Ocular Albinism with Late-Onset Sensorineural Hearing Loss ⁵⁸

Albinism Ocular Late Onset Sensorineural Deafness ⁵²

Waardenburg Syndrome/ocular Albinism, Digenic ²⁹

Digenic Waardenburg Syndrome/ocular Albinism ¹²

Albinism Ocular with Sensorineural Deafness ⁷³

Waardenburg Syndrome/albinism, Digenic ²⁹

Digenic Waardenburg Syndrome/albinism ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

ocular albinism with late-onset sensorineural deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

⁵⁶

Inheritance:
x-linked

HPO:

³¹

albinism, ocular, with late-onset sensorineural deafness:
Inheritance x-linked inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Albinism

Orphanet: ⁵⁸

Rare eye diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0090100

OMIM ⁵⁶ 300650

MeSH ⁴³ D014849

ICD10 ³² E70.3

MESH via Orphanet ⁴⁴ C537043

ICD10 via Orphanet ³³ E70.3

UMLS via Orphanet ⁷² C1845069

Orphanet ⁵⁸ ORPHA1000

MedGen ⁴¹ C1845069 C1863198

SNOMED-CT via HPO ⁶⁸ 128602000 15890002 18064000 more

UMLS ⁷¹ C1845069 C1863198

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Summaries for Albinism, Ocular, with Late-Onset Sensorineural Deafness

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1000 Definition Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism, Ocular, with Late-Onset Sensorineural Deafness, also known as ocular albinism with sensorineural deafness, is related to ocular albinism and epithelioid cell melanoma. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is TYR (Tyrosinase), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and visual impairment

Disease Ontology : ¹² An ocular albinism that is characterized by deafness and vestibular dysfunction and has material basis in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.

UniProtKB/Swiss-Prot : ⁷³ Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

More information from OMIM: 300650

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Related Diseases for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases in the Ocular Albinism with Congenital Sensorineural Deafness family:

Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)

#	Related Disease	Score	Top Affiliating Genes
1	ocular albinism	32.4	TYR OASD MITF
2	epithelioid cell melanoma	10.4	TYR MITF
3	waardenburg syndrome type 4	10.4	SOX10 MITF
4	waardenburg syndrome, type 2b	10.4	SOX10 MITF
5	ochronosis	10.4	TYR MITF
6	gallbladder melanoma	10.3	SOX10 MITF
7	ocular albinism with congenital sensorineural deafness	10.3	TYR PAX3 MITF
8	dowling-degos disease 1	10.3	TYR MITF
9	waardenburg syndrome, type 2c	10.3	SOX10 PAX3 MITF
10	waardenburg syndrome, type 4c	10.3	SOX10 PAX3 MITF
11	waardenburg syndrome, type 2d	10.3	SOX10 PAX3 MITF
12	clear cell papillary renal cell carcinoma	10.3	TFE3 MITF
13	malignant spindle cell melanoma	10.3	TYR SOX10 MITF
14	childhood kidney cell carcinoma	10.2	TFE3 MITF
15	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	10.2	SOX10 PAX3 MITF
16	waardenburg syndrome, type 3	10.2	SOX10 PAX3 MITF
17	waardenburg syndrome, type 4a	10.2	SOX10 PAX3 MITF
18	waardenburg syndrome, type 1	10.2	SOX10 PAX3 MITF
19	melanoma in congenital melanocytic nevus	10.2	TYR SOX10 MITF
20	uterus perivascular epithelioid cell tumor	10.2	TFE3 MITF
21	megacolon	10.2	SOX10 PAX3 MITF
22	neurilemmoma	10.2	TYR SOX10 MITF
23	neurofibroma	10.2	TYR SOX10 MITF
24	malignant choroid melanoma	10.2	SOX10 MITF
25	branchiootic syndrome 1	10.2
26	albinism	10.2
27	heritable thoracic aortic disease	10.1	SMAD4 SMAD3
28	hypomelanosis of ito	10.1	TYR MITF AKT3
29	angiomyolipoma	10.1	TYR TFE3 MITF
30	rare genetic deafness	10.1	SOX10 PAX3 MITF
31	waardenburg syndrome, type 2e	10.1	TYR SOX10 PAX3 MITF
32	waardenburg syndrome, type 4b	10.1	TYR SOX10 PAX3 MITF
33	tietz albinism-deafness syndrome	10.1	TYR SOX10 PAX3 MITF
34	piebald trait	10.1	TYR SOX10 PAX3 MITF
35	clear cell sarcoma	10.1	TFE3 SOX10 MITF
36	charge syndrome	10.1	SOX10 PAX3 EP300
37	loeys-dietz syndrome 5	10.1	SMAD3 SMAD2
38	waardenburg syndrome, type 2a	10.0	TFE3 SOX10 PAX3 MITF
39	nephrogenic systemic fibrosis	9.9	SMAD4 SMAD3 SMAD2
40	small intestine adenocarcinoma	9.9	SMAD4 CTNNB1
41	loeys-dietz syndrome 3	9.9	SMAD4 SMAD3 SMAD2
42	loeys-dietz syndrome	9.9	SMAD4 SMAD3 SMAD2
43	clear cell adenocarcinoma	9.9	SMAD4 SMAD3 SMAD2
44	spinal muscular atrophy, type ii	9.9	SMAD4 SMAD3 SMAD2
45	large intestine adenocarcinoma	9.9	SMAD4 CTNNB1
46	actinic keratosis	9.9	TYR SOX10 MITF CTNNB1
47	aortic aneurysm, familial thoracic 1	9.9	SMAD4 SMAD3 SMAD2
48	hypertrophic scars	9.8	SMAD3 SMAD2
49	waardenburg's syndrome	9.8	TYR TFE3 SOX10 PAX3 MITF
50	conventional fibrosarcoma	9.7	PAX3 CTNNB1

Graphical network of the top 20 diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

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Symptoms & Phenotypes for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Human phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

⁵⁸ ³¹ (show all 11)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
2	visual impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000505
3	photophobia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000613
4	nystagmus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000639
5	ocular albinism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001107
6	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
7	nystagmus-induced head nodding ³¹			HP:0001361
8	giant melanosomes in melanocytes ³¹			HP:0005592
9	adult onset sensorineural hearing impairment ³¹			HP:0008615
10	albinism ³¹			HP:0001022
11	depigmented fundus ³¹			HP:0007680

Symptoms via clinical synopsis from OMIM:

⁵⁶

Eyes:
photophobia
nystagmus
depigmented fundus
impaired vision
albino pupillary reflex
more

Skin:
normal pigmentation

Lab:
macromelanosomes on em

Head:
head nodding

Misc:
mosaic fundal pigmentation in carrier females

Ears:
late onset sensorineural deafness

Clinical features from OMIM:

300650

GenomeRNAi Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

²⁶ (show all 23)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.74	SMAD2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.74	DDB1 SMAD4
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	9.74	DDB1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.74	SMAD2 SMAD4
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-110	9.74	AKT2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-111	9.74	DDB1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-148	9.74	DDB1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-159	9.74	AKT2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	9.74	SMAD2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	9.74	SMAD2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	9.74	SMAD4
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-203	9.74	SMAD2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.74	SMAD2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-212	9.74	SMAD4
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.74	DDB1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.74	SMAD2 SMAD4
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-27	9.74	AKT2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	9.74	AKT2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.74	SMAD4
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.74	CTNNB1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.74	AKT2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.74	DDB1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.74	AKT2

MGI Mouse Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

⁴⁵ (show all 23)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.41	ABR AKT2 AKT3 CTNNB1 DDB1 EP300
2	behavior/neurological	MP:0005386	10.35	ABR AKT3 CTNNB1 HLA-A MITF PAX3
3	endocrine/exocrine gland	MP:0005379	10.35	AKT2 AKT3 CTNNB1 EP300 HLA-A MITF
4	growth/size/body region	MP:0005378	10.34	AKT2 AKT3 CTNNB1 EP300 MITF PAX3
5	mortality/aging	MP:0010768	10.33	ABR AKT2 AKT3 CTNNB1 DDB1 EP300
6	homeostasis/metabolism	MP:0005376	10.31	AKT2 AKT3 CTNNB1 EP300 MITF PAX3
7	immune system	MP:0005387	10.3	AKT2 AKT3 CTNNB1 EP300 HLA-A MITF
8	hematopoietic system	MP:0005397	10.29	AKT2 AKT3 CTNNB1 EP300 HLA-A MITF
9	cardiovascular system	MP:0005385	10.26	AKT3 CTNNB1 DDB1 EP300 PAX3 SMAD2
10	nervous system	MP:0003631	10.25	ABR AKT2 AKT3 CTNNB1 DDB1 EP300
11	craniofacial	MP:0005382	10.24	CTNNB1 EP300 MITF PAX3 SMAD2 SMAD3
12	embryo	MP:0005380	10.23	CTNNB1 EP300 MITF PAX3 SMAD2 SMAD3
13	integument	MP:0010771	10.21	AKT2 CTNNB1 MITF PAX3 SMAD2 SMAD3
14	digestive/alimentary	MP:0005381	10.13	CTNNB1 EP300 PAX3 SMAD2 SMAD3 SMAD4
15	neoplasm	MP:0002006	10.13	AKT2 AKT3 CTNNB1 EP300 PAX3 SMAD2
16	normal	MP:0002873	10.1	ABR AKT2 AKT3 CTNNB1 EP300 MITF
17	limbs/digits/tail	MP:0005371	10.04	CTNNB1 MITF PAX3 SMAD3 SMAD4 SOX10
18	liver/biliary system	MP:0005370	10.02	AKT2 CTNNB1 MITF PAX3 SMAD2 SMAD3
19	no phenotypic analysis	MP:0003012	9.97	AKT2 CTNNB1 HLA-A MITF PAX3 SMAD2
20	pigmentation	MP:0001186	9.73	CTNNB1 MITF PAX3 SOX10 TFE3 TYR
21	renal/urinary system	MP:0005367	9.7	CTNNB1 EP300 MITF PAX3 SMAD3 SMAD4
22	skeleton	MP:0005390	9.61	AKT2 CTNNB1 MITF PAX3 SMAD2 SMAD3
23	vision/eye	MP:0005391	9.28	CTNNB1 DDB1 EP300 MITF PAX3 SMAD2

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Drugs & Therapeutics for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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Genetic Tests for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Genetic tests related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

#	Genetic test	Affiliating Genes
1	Albinism, Ocular, with Sensorineural Deafness ²⁹
2	Waardenburg Syndrome/albinism, Digenic ²⁹
3	Waardenburg Syndrome/ocular Albinism, Digenic ²⁹
4	Ocular Albinism with Late-Onset Sensorineural Deafness ²⁹

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Anatomical Context for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards organs/tissues related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

⁴⁰

Eye

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Publications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Articles related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

#	Title	Authors	PMID	Year
1	X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. ⁵⁶	Winship IM...Ramesar RS	8288253	1993
2	X-linked inheritance of ocular albinism with late-onset sensorineural deafness. ⁵⁶	Winship I...Beighton P	6542750	1984
3	Ocular albinism with sensorineural deafness. ⁶¹	Tak WJ...Seo SJ	15090016	2004

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Genes for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Genes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness (3 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TYR	Tyrosinase	Protein Coding	404.56	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵
2	PAX3	Paired Box 3	Protein Coding	400	Pathogenic ⁶
3	OASD	Ocular Albinism And Sensorineural Deafness	Genetic Locus	50	Genetic linkage ⁵⁶
4	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	6.1	DISEASES inferred ¹⁵
5	PTCHD3	Patched Domain Containing 3	Protein Coding	6.03	DISEASES inferred ¹⁵
6	ABR	ABR Activator Of RhoGEF And GTPase	Protein Coding	5.96	DISEASES inferred ¹⁵
7	SOX10	SRY-Box Transcription Factor 10	Protein Coding	5.26	DISEASES inferred ¹⁵
8	EP300	E1A Binding Protein P300	Protein Coding	4.8	DISEASES inferred ¹⁵
9	SMAD3	SMAD Family Member 3	Protein Coding	4.7	DISEASES inferred ¹⁵
10	SMAD4	SMAD Family Member 4	Protein Coding	4.6	DISEASES inferred ¹⁵
11	DDB1	Damage Specific DNA Binding Protein 1	Protein Coding	4.42	DISEASES inferred ¹⁵
12	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	4.28	DISEASES inferred ¹⁵
13	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	3.97	DISEASES inferred ¹⁵
14	CTNNB1	Catenin Beta 1	Protein Coding	3.82	DISEASES inferred ¹⁵
15	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	3.74	DISEASES inferred ¹⁵
16	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	3.64	DISEASES inferred ¹⁵
17	SMAD2	SMAD Family Member 2	Protein Coding	3.33	DISEASES inferred ¹⁵

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Variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness

ClinVar genetic disease variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

⁶ (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PAX3	NM_181458.4(PAX3):c.748dup (p.Glu250fs)	duplication	Pathogenic	694721		2:223096840-223096841	2:222232121-222232122
2	TYR	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	SNV	Pathogenic	3774	rs61754388	11:88961072-88961072	11:89227904-89227904
3	TYR	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	SNV	Pathogenic	3775	rs121908011	11:88961101-88961101	11:89227933-89227933
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.164G>A (p.Cys55Tyr)	SNV	Pathogenic	3790	rs28940879	11:88911285-88911285	11:89178117-89178117
6	TYR	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	SNV	Pathogenic	99565	rs61753256	11:88911467-88911467	11:89178299-89178299
7	TYR	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	SNV	Pathogenic	99583	rs62645904	11:88924382-88924382	11:89191214-89191214
8	TYR	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	SNV	Pathogenic/Likely pathogenic	3794	rs61753180	11:88911261-88911261	11:89178093-89178093
9	TYR	NM_000372.5(TYR):c.1037-7T>A	SNV	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.1217C>T (p.Pro406Leu)	SNV	Pathogenic/Likely pathogenic	3777	rs104894313	11:89017973-89017973	11:89284805-89284805
12	TYR	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	SNV	Pathogenic/Likely pathogenic	3773	rs104894314	11:88924373-88924373	11:89191205-89191205
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>G	SNV	Uncertain significance	99548	rs61754398	11:89018126-89018126	11:89284958-89284958

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Expression for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Search GEO for disease gene expression data for Albinism, Ocular, with Late-Onset Sensorineural Deafness.

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Pathways for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Pathways related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

(show top 50) (show all 66)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.8	SOX10 SMAD4 SMAD3 SMAD2 EP300 CTNNB1
2	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.69	SMAD4 SMAD3 SMAD2 HLA-A EP300 CTNNB1
3	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.48	SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
4	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.97	HLA-A EP300 CTNNB1 AKT3 AKT2
5	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	12.97	SMAD4 SMAD3 SMAD2 EP300 DDB1 CTNNB1
6	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.95	HLA-A EP300 DDB1 CTNNB1 AKT3 AKT2
7	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.86	SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
8	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.78	SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
9	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.59	TFE3 EP300 AKT3 AKT2
10	Pathways in cancer ³⁶	12.58	SMAD4 SMAD3 SMAD2 MITF EP300 CTNNB1
11	Notch Signaling Pathway (WikiPathways) ¹ Show member pathways Notch signaling pathway ¹ Notch signaling pathway ³⁶ Notch Signaling Pathway ¹ Notch Signaling Pathways ⁶⁴	12.57	SMAD3 EP300 CTNNB1 AKT3 AKT2
12	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.54	SMAD4 SMAD3 SMAD2 PAX3 CTNNB1
13	VEGF Signaling ⁶⁶ Show member pathways EGFR Signaling Pathway ⁶⁶ TGF-beta Signaling Pathway ⁶⁶ VEGF Signaling Pathway ⁶⁰	12.48	SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
14	Wnt signaling pathway ³⁶ Show member pathways Wnt Signaling Pathways ⁶⁴	12.45	SMAD4 SMAD3 EP300 CTNNB1
15	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.45	SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
16	Cell cycle ³⁶ ¹	12.36	SMAD4 SMAD3 SMAD2 EP300
17	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²²	12.35	SMAD4 SMAD3 SMAD2 EP300
18	Translation Non-genomic (rapid) action of Androgen Receptor ²² Show member pathways Basal cell carcinoma ³⁶ Transcription Androgen Receptor nuclear signaling ²²	12.34	SMAD3 EP300 CTNNB1 AKT3 AKT2
19	Proteoglycans in cancer ³⁶	12.31	SMAD2 CTNNB1 AKT3 AKT2
20	Wnt / Hedgehog / Notch ⁴	12.26	SMAD4 SMAD3 SMAD2 PAX3 CTNNB1
21	Colorectal Cancer Metastasis ⁶³	12.2	SMAD4 SMAD3 SMAD2 CTNNB1
22	Hippo signaling pathway ³⁶	12.18	SMAD4 SMAD3 SMAD2 CTNNB1
23	Cellular senescence (KEGG) ³⁶	12.17	SMAD3 SMAD2 HLA-A AKT3 AKT2
24	Integrated Breast Cancer Pathway ¹	12.16	SMAD4 SMAD2 EP300 CTNNB1
25	TGF-beta Signaling Pathway (WikiPathways) ¹	12.09	SMAD4 SMAD3 SMAD2 EP300
26	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.09	SMAD4 SMAD3 EP300 AKT3 AKT2
27	Apelin signaling pathway ³⁶	12.08	SMAD4 SMAD3 SMAD2 AKT3 AKT2
28	Thyroid hormone signaling pathway ³⁶	12.04	EP300 CTNNB1 AKT3 AKT2
29	Development A2A receptor signaling ²² Show member pathways Development A2B receptor- action via G-protein alpha s ²²	12.01	CTNNB1 AKT3 AKT2
30	G12-G13 in Cellular Signaling ⁶³	12	CTNNB1 AKT3 AKT2
31	Neural Crest Differentiation ¹	11.96	SOX10 PAX3 MITF CTNNB1
32	Glioblastoma Multiforme ⁶³	11.95	CTNNB1 AKT3 AKT2
33	HIF-1 signaling pathway ³⁶	11.94	EP300 AKT3 AKT2
34	Glucagon signaling pathway ³⁶	11.92	EP300 AKT3 AKT2
35	TGF-beta signaling pathway (KEGG) ³⁶	11.92	SMAD4 SMAD3 SMAD2 EP300
36	DNA Damage Response (only ATM dependent) ¹	11.92	SMAD4 SMAD3 CTNNB1 AKT3 AKT2
37	Androgen receptor signaling pathway ¹	11.9	SMAD4 SMAD3 EP300 CTNNB1
38	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.86	SMAD4 SMAD3 SMAD2
39	Th17 Differentiation ⁶⁴ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.85	SMAD4 SMAD3 SMAD2
40	Human T-cell leukemia virus 1 infection ³⁶	11.84	SMAD4 SMAD3 SMAD2 HLA-A EP300 AKT3
41	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.83	SMAD4 SMAD3 SMAD2 AKT3 AKT2
42	LT-BetaR Pathway ⁶³ Show member pathways Apoptosis and survival Lymphotoxin-beta receptor signaling ²²	11.8	EP300 AKT3 AKT2
43	Validated targets of C-MYC transcriptional activation ¹	11.8	SMAD4 SMAD3 EP300
44	Signaling pathways regulating pluripotency of stem cells ³⁶	11.79	SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
45	Regulation of Wnt-mediated beta catenin signaling and target gene transcription ¹	11.78	MITF EP300 CTNNB1
46	SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁵ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD2/3 in Cancer ⁶⁵ Loss of Function of SMAD4 in Cancer ⁶⁵ Loss of Function of TGFBR1 in Cancer ⁶⁵ Loss of Function of TGFBR2 in Cancer ⁶⁵ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁵ SMAD4 MH2 Domain Mutants in Cancer ⁶⁵ TGFBR1 KD Mutants in Cancer ⁶⁵ TGFBR1 LBD Mutants in Cancer ⁶⁵ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁵ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁵	11.77	SMAD4 SMAD3 SMAD2
47	Development_TGF-beta receptor signaling ²²	11.77	SMAD4 SMAD3 SMAD2 EP300
48	Adherens junction ³⁶	11.76	SMAD4 SMAD3 EP300 CTNNB1
49	TGF-beta Signaling Pathways ⁶⁴	11.75	SMAD4 SMAD3 SMAD2 AKT3 AKT2
50	TGF-beta receptor signaling activates SMADs ⁶⁵ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁵ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁵	11.73	SMAD4 SMAD3 SMAD2

Sources

GO Terms for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Cellular components related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.25	TYR TFE3 SOX10 SMAD4 SMAD3 SMAD2
2	nucleoplasm	GO:0005654	10.14	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
3	nuclear chromatin	GO:0000790	9.87	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
4	transcription factor complex	GO:0005667	9.55	SMAD4 SMAD3 SMAD2 EP300 CTNNB1
5	protein-containing complex	GO:0032991	9.5	SMAD3 SMAD2 MITF EP300 DDB1 CTNNB1
6	postsynaptic density, intracellular component	GO:0099092	9.46	CTNNB1 ABR
7	activin responsive factor complex	GO:0032444	9.37	SMAD4 SMAD2
8	heteromeric SMAD protein complex	GO:0071144	9.26	SMAD3 SMAD2
9	SMAD protein complex	GO:0071141	8.8	SMAD4 SMAD3 SMAD2

Biological processes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

(show all 35)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription, DNA-templated	GO:0006355	10.18	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
2	regulation of transcription by RNA polymerase II	GO:0006357	10.09	SOX10 SMAD4 SMAD3 MITF EP300 CTNNB1
3	negative regulation of transcription by RNA polymerase II	GO:0000122	10.05	SOX10 SMAD4 SMAD3 SMAD2 MITF EP300
4	negative regulation of apoptotic process	GO:0043066	10.01	SOX10 SMAD3 MITF DDB1 CTNNB1 AKT2
5	intracellular signal transduction	GO:0035556	10	SMAD4 SMAD2 AKT3 AKT2 ABR
6	positive regulation of transcription by RNA polymerase II	GO:0045944	9.97	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
7	positive regulation of gene expression	GO:0010628	9.95	SOX10 SMAD3 SMAD2 MITF EP300 CTNNB1
8	protein deubiquitination	GO:0016579	9.93	SMAD4 SMAD3 SMAD2 EP300
9	in utero embryonic development	GO:0001701	9.85	SOX10 SMAD4 SMAD3 SMAD2 CTNNB1
10	positive regulation of DNA-binding transcription factor activity	GO:0051091	9.83	SMAD3 EP300 CTNNB1
11	transforming growth factor beta receptor signaling pathway	GO:0007179	9.83	SMAD4 SMAD3 SMAD2
12	lung development	GO:0030324	9.81	SMAD2 EP300 CTNNB1
13	SMAD protein signal transduction	GO:0060395	9.77	SMAD4 SMAD3 SMAD2
14	gastrulation	GO:0007369	9.73	SMAD4 SMAD3 SMAD2
15	endoderm development	GO:0007492	9.72	SMAD4 SMAD3 SMAD2
16	activin receptor signaling pathway	GO:0032924	9.67	SMAD3 SMAD2
17	regulation of transforming growth factor beta receptor signaling pathway	GO:0017015	9.67	SMAD4 SMAD3 SMAD2
18	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.67	SMAD4 SMAD3 SMAD2 CTNNB1
19	gastrulation with mouth forming second	GO:0001702	9.66	SMAD4 CTNNB1
20	positive regulation of histone H3-K4 methylation	GO:0051571	9.66	SMAD4 CTNNB1
21	secondary palate development	GO:0062009	9.65	SMAD4 SMAD2
22	endoderm formation	GO:0001706	9.64	SMAD2 CTNNB1
23	nodal signaling pathway	GO:0038092	9.63	SMAD3 SMAD2
24	primary miRNA processing	GO:0031053	9.62	SMAD3 SMAD2
25	pericardium development	GO:0060039	9.62	SMAD3 SMAD2
26	positive regulation of DNA-templated transcription, initiation	GO:2000144	9.61	MITF CTNNB1
27	regulation of osteoclast differentiation	GO:0045670	9.61	TFE3 MITF CTNNB1
28	regulation of transforming growth factor beta2 production	GO:0032909	9.58	SMAD4 SMAD3
29	embryonic foregut morphogenesis	GO:0048617	9.58	SMAD3 SMAD2 CTNNB1
30	canonical Wnt signaling pathway involved in negative regulation of apoptotic process	GO:0044336	9.57	MITF CTNNB1
31	paraxial mesoderm morphogenesis	GO:0048340	9.52	SMAD3 SMAD2
32	developmental growth	GO:0048589	9.46	SOX10 SMAD4 SMAD3 SMAD2
33	SMAD protein complex assembly	GO:0007183	9.43	SMAD4 SMAD3 SMAD2
34	positive regulation of transcription, DNA-templated	GO:0045893	9.28	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
35	regulation of binding	GO:0051098	9.13	SMAD4 SMAD3 SMAD2

Molecular functions related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	10.13	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
2	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.98	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
3	transcription regulatory region sequence-specific DNA binding	GO:0000976	9.88	TFE3 SOX10 SMAD4 SMAD3
4	transcription regulatory region DNA binding	GO:0044212	9.85	TFE3 SOX10 SMAD4 SMAD3
5	transcription factor binding	GO:0008134	9.85	SOX10 SMAD3 SMAD2 EP300 CTNNB1
6	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.85	TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
7	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.8	TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
8	transcription coregulator activity	GO:0003712	9.78	SMAD4 SMAD3 EP300
9	DNA-binding transcription factor activity	GO:0003700	9.76	TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
10	beta-catenin binding	GO:0008013	9.74	SMAD3 EP300 CTNNB1
11	RNA polymerase II transcription factor binding	GO:0001085	9.71	SMAD4 EP300 CTNNB1
12	RNA polymerase II activating transcription factor binding	GO:0001102	9.7	SMAD3 EP300 CTNNB1
13	SMAD binding	GO:0046332	9.69	SMAD3 SMAD2 CTNNB1
14	proximal promoter sequence-specific DNA binding	GO:0000987	9.62	SOX10 SMAD4 SMAD3 SMAD2
15	transforming growth factor beta receptor binding	GO:0005160	9.6	SMAD3 SMAD2
16	enhancer binding	GO:0035326	9.59	SMAD3 SMAD2
17	co-SMAD binding	GO:0070410	9.58	SMAD3 SMAD2
18	R-SMAD binding	GO:0070412	9.58	SMAD4 SMAD3 SMAD2
19	primary miRNA binding	GO:0070878	9.56	SMAD3 SMAD2
20	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	GO:0030618	9.49	SMAD3 SMAD2
21	chromatin binding	GO:0003682	9.17	SOX10 SMAD4 SMAD3 SMAD2 MITF EP300
22	I-SMAD binding	GO:0070411	9.13	SMAD4 SMAD2 CTNNB1

Sources

Sources for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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⁷⁴ Wikipedia

Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)

Aliases & Classifications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards integrated aliases for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Related Diseases for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases in the Ocular Albinism with Congenital Sensorineural Deafness family:

Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Symptoms & Phenotypes for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Human phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Drugs & Therapeutics for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Genetic Tests for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Genetic tests related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Anatomical Context for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards organs/tissues related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Publications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Articles related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Genes for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Genes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness (3 elite genes):

Variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness

ClinVar genetic disease variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Expression for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Pathways for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Pathways related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

GO Terms for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Cellular components related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

Biological processes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

Molecular functions related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

Sources for Albinism, Ocular, with Late-Onset Sensorineural Deafness