MCID: RTN204
MIFTS: 7

Retinal Telangiectasia and Hypogammaglobulinemia

Aliases & Classifications for Retinal Telangiectasia and Hypogammaglobulinemia

MalaCards integrated aliases for Retinal Telangiectasia and Hypogammaglobulinemia:

Name: Retinal Telangiectasia and Hypogammaglobulinemia 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
retinal telangiectasia and hypogammaglobulinemia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 267900
MedGen 41 C2930961

Summaries for Retinal Telangiectasia and Hypogammaglobulinemia

MalaCards based summary : Retinal Telangiectasia and Hypogammaglobulinemia Related phenotypes are decreased circulating igg level and retinal telangiectasia

More information from OMIM: 267900

Related Diseases for Retinal Telangiectasia and Hypogammaglobulinemia

Symptoms & Phenotypes for Retinal Telangiectasia and Hypogammaglobulinemia

Human phenotypes related to Retinal Telangiectasia and Hypogammaglobulinemia:

31
# Description HPO Frequency HPO Source Accession
1 decreased circulating igg level 31 HP:0004315
2 retinal telangiectasia 31 HP:0007763
3 reduced delayed hypersensitivity 31 HP:0002972

Symptoms via clinical synopsis from OMIM:

56
Eyes:
retinal telangiectasia

Immunology:
hypogammaglobulinemia
impaired delayed hypersensitivity

Clinical features from OMIM:

267900

Drugs & Therapeutics for Retinal Telangiectasia and Hypogammaglobulinemia

Search Clinical Trials , NIH Clinical Center for Retinal Telangiectasia and Hypogammaglobulinemia

Genetic Tests for Retinal Telangiectasia and Hypogammaglobulinemia

Anatomical Context for Retinal Telangiectasia and Hypogammaglobulinemia

Publications for Retinal Telangiectasia and Hypogammaglobulinemia

Articles related to Retinal Telangiectasia and Hypogammaglobulinemia:

# Title Authors PMID Year
1
Retinal telangiectasia associated with hypogammaglobulinemia. 56
6018656 1967

Variations for Retinal Telangiectasia and Hypogammaglobulinemia

Expression for Retinal Telangiectasia and Hypogammaglobulinemia

Search GEO for disease gene expression data for Retinal Telangiectasia and Hypogammaglobulinemia.

Pathways for Retinal Telangiectasia and Hypogammaglobulinemia

GO Terms for Retinal Telangiectasia and Hypogammaglobulinemia

Sources for Retinal Telangiectasia and Hypogammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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