MCID: ALB019
MIFTS: 32

Albinism, Oculocutaneous, Type Iv malady

Categories: Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

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Aliases & Descriptions for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 52
Oca4 23 24 54 70
Oculocutaneous Albinism Type 4 23 24 54
 
Oculocutaneous Albinism, Type Iv 12 68
Oculocutaneous Albinism Type Iv 70 27
Albinism, Oculocutaneous, 4 70

Characteristics:

Orphanet epidemiological data:

54
oca4:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
albinism, oculocutaneous, type iv:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 606574
Orphanet54 ORPHA79435
ICD10 via Orphanet31 E70.3
MedGen37 C1847836
MeSH39 D016115

Summaries for Albinism, Oculocutaneous, Type Iv

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UniProtKB/Swiss-Prot:70 Albinism, oculocutaneous, 4: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

MalaCards based summary: Albinism, Oculocutaneous, Type Iv, also known as oca4, is related to albinism, oculocutaneous, type ia and oculocutaneous albinism, and has symptoms including strabismus, hypopigmentation of hair and generalized hypopigmentation. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2). Affiliated tissues include skin and eye.

Description from OMIM:52 606574

GeneReviews for NBK1510

Related Diseases for Albinism, Oculocutaneous, Type Iv

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Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type V albinism, oculocutaneous, type iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

Diseases related to Albinism, Oculocutaneous, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1albinism, oculocutaneous, type ia10.9
2oculocutaneous albinism10.4
3albinism10.4
4alpha-methylacyl-coa racemase deficiency10.0

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iv

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Clinical features from OMIM:

606574

Human phenotypes related to Albinism, Oculocutaneous, Type Iv:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus64 54 hallmark (90%) Very frequent (99-80%) HP:0000486
2 hypopigmentation of hair64 54 hallmark (90%) Very frequent (99-80%) HP:0005599
3 generalized hypopigmentation64 hallmark (90%) HP:0007513
4 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
5 photophobia64 54 typical (50%) Frequent (79-30%) HP:0000613
6 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
7 optic atrophy64 typical (50%) HP:0000648
8 ocular albinism64 typical (50%) HP:0001107
9 abnormality of retinal pigmentation64 typical (50%) HP:0007703
10 neoplasm of the skin64 occasional (7.5%) HP:0008069
11 blue irides64 HP:0000635
12 albinism64 54 Very frequent (99-80%) HP:0001022
13 macular hypoplasia64 HP:0001104
14 hypopigmentation of the fundus64 HP:0007894
15 abnormality of the optic nerve54 Frequent (79-30%)
16 hypopigmentation of the skin54 Very frequent (99-80%)
17 thickened skin54 Frequent (79-30%)
18 basal cell carcinoma54 Occasional (29-5%)
19 melanoma54 Occasional (29-5%)
20 squamous cell carcinoma of the skin54 Occasional (29-5%)
21 iris hypopigmentation54 Frequent (79-30%)
22 hypoplasia of the fovea54 Occasional (29-5%)

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

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Drugs for Albinism, Oculocutaneous, Type Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LosartanapprovedPhase 1, Phase 2282114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
2
PravastatinapprovedPhase 1, Phase 214981093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
 
Oliprevin
Pravachol
Pravaselect
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
3
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4
Erythromycinapproved, vet_approvedPhase 1, Phase 295114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
érythromycine
5Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21956
6Hypolipidemic AgentsPhase 1, Phase 22721
7Leukotriene AntagonistsPhase 1, Phase 2291
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 212767
9HormonesPhase 1, Phase 213979
10ExpectorantsPhase 1, Phase 2388
11Gastrointestinal AgentsPhase 1, Phase 28109
12Hormone AntagonistsPhase 1, Phase 212778
13Lipid Regulating AgentsPhase 1, Phase 22702
14Lipoxygenase InhibitorsPhase 1, Phase 277
15AnalgesicsPhase 1, Phase 211287
16Protective AgentsPhase 1, Phase 27190
17Respiratory System AgentsPhase 1, Phase 24818
18Pharmaceutical SolutionsPhase 1, Phase 27793
19Peripheral Nervous System AgentsPhase 1, Phase 222776
20Analgesics, Non-NarcoticPhase 1, Phase 26260
21N-monoacetylcystinePhase 1, Phase 2316
22Erythromycin stearatePhase 1, Phase 295
23Erythromycin EthylsuccinatePhase 1, Phase 295
24Anticholesteremic AgentsPhase 1, Phase 21983
25AntidotesPhase 1, Phase 21038
26Antihypertensive AgentsPhase 1, Phase 24095
27Anti-Bacterial AgentsPhase 1, Phase 210884
28Anti-Arrhythmia AgentsPhase 1, Phase 22969
29Angiotensin Receptor AntagonistsPhase 1, Phase 21173
30AngiotensinogenPhase 1, Phase 21161
31Anti-Infective AgentsPhase 1, Phase 221402
32Anti-Inflammatory AgentsPhase 1, Phase 210355
33Antiviral AgentsPhase 1, Phase 29732
34
Angiotensin IIPhase 1, Phase 2116268521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
35Erythromycin EstolatePhase 1, Phase 295
36Antirheumatic AgentsPhase 1, Phase 210627
37AntioxidantsPhase 1, Phase 22928
38Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 24295
39AntimetabolitesPhase 1, Phase 211774
40Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 21078

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2

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Genetic Tests for Albinism, Oculocutaneous, Type Iv

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Genetic tests related to Albinism, Oculocutaneous, Type Iv:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 427 24 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Iv:

36
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iv

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Variations for Albinism, Oculocutaneous, Type Iv

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UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Iv:

70 (show all 21)
id Symbol AA change Variation ID SNP ID
1SLC45A2p.Pro58AlaVAR_022710
2SLC45A2p.Pro58SerVAR_022711
3SLC45A2p.Asp157AsnVAR_022712rs121912621
4SLC45A2p.Gly188ValVAR_022713
5SLC45A2p.Trp202CysVAR_022714rs146802593
6SLC45A2p.Tyr317CysVAR_022717
7SLC45A2p.Leu361ProVAR_022718rs28939380
8SLC45A2p.Ala477ThrVAR_022719
9SLC45A2p.Ala486ValVAR_022720rs121912620
10SLC45A2p.Met42IleVAR_067071
11SLC45A2p.Gly64SerVAR_067072
12SLC45A2p.Thr302SerVAR_067073rs553073635
13SLC45A2p.Arg348CysVAR_067074rs372465070
14SLC45A2p.Leu60ArgVAR_072602
15SLC45A2p.Gly110ArgVAR_073166rs762813061
16SLC45A2p.Leu151ProVAR_073167
17SLC45A2p.Asp160HisVAR_073168
18SLC45A2p.His233GlnVAR_073169
19SLC45A2p.Gly349ArgVAR_073170rs146930801
20SLC45A2p.Glu368LysVAR_073171
21SLC45A2p.Phe418LeuVAR_073172rs144503724

Clinvar genetic disease variations for Albinism, Oculocutaneous, Type Iv:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC45A2NM_016180.4(SLC45A2): c.856C> T (p.Gln286Ter)SNVPathogenicrs794727511GRCh37Chr 5, 33963828: 33963828
2SLC45A2NM_001012509.3(SLC45A2): c.1273delC (p.Leu425Trpfs)deletionPathogenicrs759411189GRCh38Chr 5, 33947258: 33947258
3SLC45A2NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg)SNVLikely pathogenicrs797045970GRCh38Chr 5, 33964001: 33964001
4SLC45A2NM_016180.4(SLC45A2): c.1152T> G (p.Tyr384Ter)SNVPathogenicrs886042344GRCh37Chr 5, 33951663: 33951663
5SLC45A2NM_016180.4(SLC45A2): c.834C> G (p.Tyr278Ter)SNVPathogenicrs116887602GRCh37Chr 5, 33963850: 33963850
6SLC45A2NM_016180.4(SLC45A2): c.563-1G> ASNVPathogenicrs730880270GRCh38Chr 5, 33964017: 33964017
7SLC45A2NM_016180.4(SLC45A2): c.1082T> C (p.Leu361Pro)SNVPathogenicrs121912619GRCh37Chr 5, 33951733: 33951733
8SLC45A2NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs)deletionPathogenicrs387906317GRCh37Chr 5, 33954512: 33954512
9SLC45A2NM_016180.4(SLC45A2): c.661_663delTTC (p.Phe221del)deletionPathogenicrs387906318GRCh37Chr 5, 33964021: 33964023
10SLC45A2NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val)SNVPathogenicrs121912620GRCh37Chr 5, 33944889: 33944889
11SLC45A2NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn)SNVPathogenicrs121912621GRCh37Chr 5, 33982434: 33982434
12SLC45A2NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs)deletionPathogenicrs730880271GRCh38Chr 5, 33951589: 33951589

Expression for genes affiliated with Albinism, Oculocutaneous, Type Iv

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Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Iv.

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Iv

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GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Iv

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Sources for Albinism, Oculocutaneous, Type Iv

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet