MCID: MNM005
MIFTS: 9

Minimal Pigment Oculocutaneous Albinism Type 1

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

Aliases & Classifications for Minimal Pigment Oculocutaneous Albinism Type 1

MalaCards integrated aliases for Minimal Pigment Oculocutaneous Albinism Type 1:

Name: Minimal Pigment Oculocutaneous Albinism Type 1 56
Mp Oca Type 1 56
Oca1-Mp 56

Characteristics:

Orphanet epidemiological data:

56
minimal pigment oculocutaneous albinism type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA352734
ICD10 via Orphanet 34 E70.3

Summaries for Minimal Pigment Oculocutaneous Albinism Type 1

MalaCards based summary : Minimal Pigment Oculocutaneous Albinism Type 1, is also known as mp oca type 1. An important gene associated with Minimal Pigment Oculocutaneous Albinism Type 1 is TYR (Tyrosinase). Affiliated tissues include skin and eye.

Related Diseases for Minimal Pigment Oculocutaneous Albinism Type 1

Symptoms & Phenotypes for Minimal Pigment Oculocutaneous Albinism Type 1

Drugs & Therapeutics for Minimal Pigment Oculocutaneous Albinism Type 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search NIH Clinical Center for Minimal Pigment Oculocutaneous Albinism Type 1

Genetic Tests for Minimal Pigment Oculocutaneous Albinism Type 1

Anatomical Context for Minimal Pigment Oculocutaneous Albinism Type 1

MalaCards organs/tissues related to Minimal Pigment Oculocutaneous Albinism Type 1:

39
Skin, Eye

Publications for Minimal Pigment Oculocutaneous Albinism Type 1

Variations for Minimal Pigment Oculocutaneous Albinism Type 1

Expression for Minimal Pigment Oculocutaneous Albinism Type 1

Search GEO for disease gene expression data for Minimal Pigment Oculocutaneous Albinism Type 1.

Pathways for Minimal Pigment Oculocutaneous Albinism Type 1

GO Terms for Minimal Pigment Oculocutaneous Albinism Type 1

Sources for Minimal Pigment Oculocutaneous Albinism Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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