MCID: GLB017
MIFTS: 8

Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome

Categories: Nephrological diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

MalaCards integrated aliases for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome:

Name: Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 59
Glow Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
global developmental delay-lung cysts-overgrowth-wilms tumor syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:



External Ids:

Orphanet 59 ORPHA404476
ICD10 via Orphanet 34 Q87.3

Summaries for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

MalaCards based summary : Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome, is also known as glow syndrome. An important gene associated with Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include lung.

Related Diseases for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Symptoms & Phenotypes for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Drugs & Therapeutics for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome

Genetic Tests for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Anatomical Context for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

MalaCards organs/tissues related to Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome:

41
Lung

Publications for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Articles related to Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome:

# Title Authors Year
1
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. ( 24676357 )
2014

Variations for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Expression for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Search GEO for disease gene expression data for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome.

Pathways for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

GO Terms for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

Sources for Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor...

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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