BIRGD
MCID: BRB005
MIFTS: 10

Birbeck Granule Deficiency (BIRGD)

Categories: Genetic diseases

Aliases & Classifications for Birbeck Granule Deficiency

MalaCards integrated aliases for Birbeck Granule Deficiency:

Name: Birbeck Granule Deficiency 58 76 30 6 41 74
Birbeck Granules, Absence of 58
Absence of Birbeck Granules 76
Birgd 76

Classifications:



External Ids:

OMIM 58 613393
MedGen 43 C3150657
UMLS 74 C3150657

Summaries for Birbeck Granule Deficiency

UniProtKB/Swiss-Prot : 76 Birbeck granule deficiency: A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity.

MalaCards based summary : Birbeck Granule Deficiency, is also known as birbeck granules, absence of. An important gene associated with Birbeck Granule Deficiency is CD207 (CD207 Molecule).

Description from OMIM: 613393

Related Diseases for Birbeck Granule Deficiency

Symptoms & Phenotypes for Birbeck Granule Deficiency

Clinical features from OMIM:

613393

Drugs & Therapeutics for Birbeck Granule Deficiency

Search Clinical Trials , NIH Clinical Center for Birbeck Granule Deficiency

Genetic Tests for Birbeck Granule Deficiency

Genetic tests related to Birbeck Granule Deficiency:

# Genetic test Affiliating Genes
1 Birbeck Granule Deficiency 30 CD207

Anatomical Context for Birbeck Granule Deficiency

Publications for Birbeck Granule Deficiency

Variations for Birbeck Granule Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Birbeck Granule Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 CD207 p.Trp264Arg VAR_063828 rs200837270

ClinVar genetic disease variations for Birbeck Granule Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD207 NM_015717.4(CD207): c.790T> C (p.Trp264Arg) single nucleotide variant Pathogenic rs200837270 GRCh37 Chromosome 2, 71058878: 71058878
2 CD207 NM_015717.4(CD207): c.790T> C (p.Trp264Arg) single nucleotide variant Pathogenic rs200837270 GRCh38 Chromosome 2, 70831747: 70831747

Expression for Birbeck Granule Deficiency

Search GEO for disease gene expression data for Birbeck Granule Deficiency.

Pathways for Birbeck Granule Deficiency

GO Terms for Birbeck Granule Deficiency

Sources for Birbeck Granule Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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