MCID: GLC083
MIFTS: 20

Glaucoma 3, Primary Infantile, B malady

Categories: Rare diseases, Genetic diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Glaucoma 3, Primary Infantile, B

Aliases & Descriptions for Glaucoma 3, Primary Infantile, B:

Name: Glaucoma 3, Primary Infantile, B 54 13 69
Glaucoma 3 Primary Infantile B 50 29
Primary Congenital Glaucoma 50 69
Primary Congenital Glaucoma Type 3b 50
Glaucoma Primary Congenita Type 3b 50
Glc3 Type B 50
Glc3b 50

Characteristics:

HPO:

32
glaucoma 3, primary infantile, b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600975

Summaries for Glaucoma 3, Primary Infantile, B

MalaCards based summary : Glaucoma 3, Primary Infantile, B, also known as glaucoma 3 primary infantile b, is related to primary congenital glaucoma and glaucoma 3a, primary open angle, congenital, juvenile, or adult onset, and has symptoms including primary congenital glaucoma An important gene associated with Glaucoma 3, Primary Infantile, B is GLC3B (Glaucoma 3, Primary Infantile, B).

Description from OMIM: 600975

Related Diseases for Glaucoma 3, Primary Infantile, B

Symptoms & Phenotypes for Glaucoma 3, Primary Infantile, B

Symptoms by clinical synopsis from OMIM:

600975

Clinical features from OMIM:

600975

Human phenotypes related to Glaucoma 3, Primary Infantile, B:

32
id Description HPO Frequency HPO Source Accession
1 primary congenital glaucoma 32 HP:0008007

Drugs & Therapeutics for Glaucoma 3, Primary Infantile, B

Interventional clinical trials:


id Name Status NCT ID Phase
1 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Active, not recruiting NCT02121171 Phase 1
2 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
3 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460

Search NIH Clinical Center for Glaucoma 3, Primary Infantile, B

Genetic Tests for Glaucoma 3, Primary Infantile, B

Genetic tests related to Glaucoma 3, Primary Infantile, B:

id Genetic test Affiliating Genes
1 Glaucoma 3, Primary Infantile, B 29

Anatomical Context for Glaucoma 3, Primary Infantile, B

Publications for Glaucoma 3, Primary Infantile, B

Variations for Glaucoma 3, Primary Infantile, B

Expression for Glaucoma 3, Primary Infantile, B

Search GEO for disease gene expression data for Glaucoma 3, Primary Infantile, B.

Pathways for Glaucoma 3, Primary Infantile, B

GO Terms for Glaucoma 3, Primary Infantile, B

Sources for Glaucoma 3, Primary Infantile, B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....