MCID: ALB019
MIFTS: 26

Albinism, Oculocutaneous, Type Iv malady

Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Rare diseases categories

Summaries for Albinism, Oculocutaneous, Type Iv

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MalaCards based summary: Albinism, Oculocutaneous, Type Iv, also known as oculocutaneous albinism type 4, is related to oculocutaneous albinism and 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:45 606574

GeneReviews summary for oca4

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Albinism, Oculocutaneous, Type Iv, Aliases & Descriptions:

Name: Albinism, Oculocutaneous, Type Iv 45
Oculocutaneous Albinism Type 4 19 20 47 22
 
Oculocutaneous Albinism, Type Iv 10 60
Oca4 19 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
oculocutaneous albinism type 4:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 606574
Orphanet47 79435
ICD10 via Orphanet26 E70.3

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
1oculocutaneous albinism10.8
2albinism10.8
3alpha-methylacyl-coa racemase deficiency10.4
4albinism, oculocutaneous, type ia10.1

Symptoms for Albinism, Oculocutaneous, Type Iv

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Clinical features from OMIM:

606574

Symptoms:

 47 (show all 11)
  • strabismus/squint
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • decreased hair pigmentation/hypopigmentation of hair
  • iris albinism/ocular albinism
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • photophobia
  • nystagmus
  • macular dystrophy/absence/hypoplasia of the macula
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Albinism, Oculocutaneous, Type Iv:

(show all 18)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 hypopigmentation of hair hallmark (90%) HP:0005599
3 generalized hypopigmentation hallmark (90%) HP:0007513
4 visual impairment typical (50%) HP:0000505
5 photophobia typical (50%) HP:0000613
6 nystagmus typical (50%) HP:0000639
7 optic atrophy typical (50%) HP:0000648
8 ocular albinism typical (50%) HP:0001107
9 abnormal retinal pigmentation typical (50%) HP:0007703
10 abnormality of the macula occasional (7.5%) HP:0001103
11 neoplasm of the skin occasional (7.5%) HP:0008069
12 autosomal recessive inheritance HP:0000007
13 visual impairment HP:0000505
14 blue irides HP:0000635
15 nystagmus HP:0000639
16 macular hypoplasia HP:0001104
17 hypopigmentation of hair HP:0005599
18 hypopigmentation of the fundus HP:0007894

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

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Drug clinical trials:

Search ClinicalTrials for Albinism, Oculocutaneous, Type Iv

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Iv

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 420 22 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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

31
Skin, Eye

Animal Models for Albinism, Oculocutaneous, Type Iv or affiliated genes

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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:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1SLC45A2p.Pro58AlaVAR_022710
2SLC45A2p.Pro58SerVAR_022711
3SLC45A2p.Asp157AsnVAR_022712
4SLC45A2p.Gly188ValVAR_022713
5SLC45A2p.Trp202CysVAR_022714
6SLC45A2p.Tyr317CysVAR_022717
7SLC45A2p.Leu361ProVAR_022718rs28939380
8SLC45A2p.Ala477ThrVAR_022719
9SLC45A2p.Ala486ValVAR_022720
10SLC45A2p.Met42IleVAR_067071
11SLC45A2p.Gly64SerVAR_067072
12SLC45A2p.Thr302SerVAR_067073
13SLC45A2p.Arg348CysVAR_067074
14SLC45A2p.Leu60ArgVAR_072602

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1SLC45A2SLC45A2, IVS2, G-A, -1single nucleotide variantPathogenic
2SLC45A2NM_016180.3(SLC45A2): c.1082T> C (p.Leu361Pro)single nucleotide variantPathogenicrs121912619GRCh37Chr 5, 33951733: 33951733
3SLC45A2NM_016180.3(SLC45A2): c.986delC (p.Thr329Argfs)deletionPathogenicrs387906317GRCh37Chr 5, 33954512: 33954512
4SLC45A2NM_016180.3(SLC45A2): c.661_663delTTC (p.Phe221del)deletionPathogenicrs387906318GRCh37Chr 5, 33964021: 33964023
5SLC45A2NM_016180.3(SLC45A2): c.1457C> T (p.Ala486Val)single nucleotide variantPathogenicrs121912620GRCh37Chr 5, 33944889: 33944889
6SLC45A2NM_016180.3(SLC45A2): c.469G> A (p.Asp157Asn)single nucleotide variantPathogenicrs121912621GRCh37Chr 5, 33982434: 33982434
7SLC45A2SLC45A2, 1-BP DEL, 1121TdeletionPathogenic

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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Compounds 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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Products for genes affiliated with Albinism, Oculocutaneous, Type Iv

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Albinism, Oculocutaneous, Type Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet