MCID: MNM005
MIFTS: 7

Minimal Pigment Oculocutaneous Albinism Type 1

Categories: Eye diseases, Metabolic diseases, Rare diseases, Skin 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 58
Mp Oca Type 1 58
Oca1-Mp 58

Characteristics:

Orphanet epidemiological data:

58
minimal pigment oculocutaneous albinism type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA352734

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 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

Search Clinical Trials , 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:

40
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
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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