MCID: RTN204
MIFTS: 6

Retinal Telangiectasia and Hypogammaglobulinemia

Aliases & Classifications for Retinal Telangiectasia and Hypogammaglobulinemia

MalaCards integrated aliases for Retinal Telangiectasia and Hypogammaglobulinemia:

Name: Retinal Telangiectasia and Hypogammaglobulinemia 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinal telangiectasia and hypogammaglobulinemia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 267900
MedGen 42 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:

32
# Description HPO Frequency HPO Source Accession
1 decreased circulating igg level 32 HP:0004315
2 retinal telangiectasia 32 HP:0007763
3 reduced delayed hypersensitivity 32 HP:0002972

Symptoms via clinical synopsis from OMIM:

57
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. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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