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 57 75 29 6 40 73
Birbeck Granules, Absence of 57
Absence of Birbeck Granules 75
Birgd 75

Classifications:



External Ids:

OMIM 57 613393
MedGen 42 C3150657
UMLS 73 C3150657

Summaries for Birbeck Granule Deficiency

UniProtKB/Swiss-Prot : 75 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 29 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:

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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