BIRGD
MCID: BRB005
MIFTS: 14

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 72 29 6 39 70
Birbeck Granules, Absence of 57
Absence of Birbeck Granules 72
Birgd 72

Classifications:



External Ids:

OMIM® 57 613393
MedGen 41 C3150657
UMLS 70 C3150657

Summaries for Birbeck Granule Deficiency

UniProtKB/Swiss-Prot : 72 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).

More information from OMIM: 613393

Related Diseases for Birbeck Granule Deficiency

Symptoms & Phenotypes for Birbeck Granule Deficiency

Clinical features from OMIM®:

613393 (Updated 20-May-2021)

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

Articles related to Birbeck Granule Deficiency:

# Title Authors PMID Year
1
A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene. 6 57
15816828 2005
2
Functional human epidermal Langerhans cells that lack Birbeck granules. 6 57
7798619 1994
3
Polymorphisms in human langerin affect stability and sugar binding activity. 6
16567809 2006
4
Identification of mouse langerin/CD207 in Langerhans cells and some dendritic cells of lymphoid tissues. 57
11777972 2002
5
An Efficient Bivalent Cyclic RGD-PIK3CB siRNA Conjugate for Specific Targeted Therapy against Glioblastoma In Vitro and In Vivo. 61
30312846 2018

Variations for Birbeck Granule Deficiency

ClinVar genetic disease variations for Birbeck Granule Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD207 NM_015717.5(CD207):c.790T>C (p.Trp264Arg) SNV Pathogenic 5337 rs200837270 GRCh37: 2:71058878-71058878
GRCh38: 2:70831747-70831747
2 CD207 NM_015717.5(CD207):c.402C>T (p.Asn134=) SNV Uncertain significance 625908 rs782591870 GRCh37: 2:71060940-71060940
GRCh38: 2:70833809-70833809

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

72
# Symbol AA change Variation ID SNP ID
1 CD207 p.Trp264Arg VAR_063828 rs200837270

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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