GLOW
MCID: GLB024
MIFTS: 22

Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor (GLOW)

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

Aliases & Classifications for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

MalaCards integrated aliases for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor:

Name: Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 58 76 6
Glow Syndrome 58 60 76
Glow 58 76
Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 60
Glow Syndrome, Somatic Mosaic 58

Characteristics:

Orphanet epidemiological data:

60
global developmental delay-lung cysts-overgrowth-wilms tumor syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
somatic mosaicism

Miscellaneous:
based on a report of 2 unrelated patients (last curated january 2019)


Classifications:



External Ids:

OMIM 58 618272
ICD10 via Orphanet 35 Q87.3
Orphanet 60 ORPHA404476
MedGen 43 CN257964

Summaries for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

UniProtKB/Swiss-Prot : 76 Global developmental delay, lung cysts, overgrowth, and Wilms tumor: A disease characterized by the association of congenital nephromegaly, bilateral Wilms tumor, somatic overgrowth, developmental delay, macrocephaly, and bilateral lung cysts.

MalaCards based summary : Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor, also known as glow syndrome, is related to sickle cell anemia and deficiency anemia. An important gene associated with Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include lung and b cells.

Description from OMIM: 618272

Related Diseases for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

Graphical network of the top 20 diseases related to Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor:



Diseases related to Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor

Symptoms & Phenotypes for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Face:
frontal bossing

Growth Other:
overgrowth

Respiratory Lung:
lung cysts

Neoplasia:
wilms tumor susceptibility

Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
global developmental delay

Head And Neck Nose:
flat nasal bridge

Genitourinary Kidneys:
wilms tumor, bilateral

Clinical features from OMIM:

618272

Drugs & Therapeutics for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

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

Genetic Tests for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

Anatomical Context for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

MalaCards organs/tissues related to Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor:

42
Lung, B Cells

Publications for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

Articles related to Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor:

# 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, and Wilms...

ClinVar genetic disease variations for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 DICER1, ASP1713VAL single nucleotide variant Pathogenic
2 DICER1 DICER1, ASP1709TYR single nucleotide variant Pathogenic

Expression for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

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

Pathways for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

GO Terms for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

Sources for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms...

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35 ICD10 via Orphanet
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71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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