GLOW
MCID: GLB024
MIFTS: 31

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 56 73 6
Glow Syndrome 56 58 73
Glow 56 73
Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome 58
Glow Syndrome, Somatic Mosaic 56

Characteristics:

Orphanet epidemiological data:

58
global developmental delay-lung cysts-overgrowth-wilms tumor syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
somatic mosaicism

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


HPO:

31
global developmental delay, lung cysts, overgrowth, and wilms tumor:
Inheritance somatic mosaicism


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 618272
ICD10 via Orphanet 33 Q87.3
Orphanet 58 ORPHA404476

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

UniProtKB/Swiss-Prot : 73 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). The drugs Mannitol and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and breast, and related phenotypes are macrocephaly and hypertelorism

More information from OMIM: 618272

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

Diseases related to Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 11.3
2 deficiency anemia 11.3
3 osteoporosis 10.5
4 bone mineral density quantitative trait locus 8 10.5
5 bone mineral density quantitative trait locus 15 10.5
6 triiodothyronine receptor auxiliary protein 10.5
7 vogt-koyanagi-harada disease 10.5
8 uveitis 10.2
9 cerebrovascular disease 10.2
10 parkinson disease, late-onset 10.1
11 retinal detachment 10.1
12 body mass index quantitative trait locus 11 10.1
13 stroke, ischemic 10.1
14 body mass index quantitative trait locus 9 10.1
15 body mass index quantitative trait locus 8 10.1
16 body mass index quantitative trait locus 4 10.1
17 body mass index quantitative trait locus 10 10.1
18 body mass index quantitative trait locus 7 10.1
19 body mass index quantitative trait locus 12 10.1
20 body mass index quantitative trait locus 14 10.1
21 body mass index quantitative trait locus 18 10.1
22 body mass index quantitative trait locus 19 10.1
23 body mass index quantitative trait locus 20 10.1
24 iridocyclitis 10.1
25 overgrowth syndrome 10.1
26 alzheimer disease 9.9
27 amyotrophic lateral sclerosis 1 9.9
28 autoimmune disease 9.9
29 hepatocellular carcinoma 9.9
30 hair whorl 9.9
31 dowling-degos disease 1 9.9
32 lung cancer 9.9
33 celiac disease 1 9.9
34 meester-loeys syndrome 9.9
35 arts syndrome 9.9
36 pleuropulmonary blastoma 9.9
37 wilms tumor 5 9.9
38 autoimmune lymphoproliferative syndrome 9.9
39 body mass index quantitative trait locus 1 9.9
40 patent ductus arteriosus 1 9.9
41 mycobacterium tuberculosis 1 9.9
42 mulchandani-bhoj-conlin syndrome 9.9
43 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
44 diffuse large b-cell lymphoma 9.9
45 lymphoma 9.9
46 atrial fibrillation 9.9
47 bone resorption disease 9.9
48 renal hypertension 9.9
49 choroiditis 9.9
50 visual epilepsy 9.9

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...

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hypertelorism 31 HP:0000316
3 frontal bossing 31 HP:0002007
4 global developmental delay 31 HP:0001263
5 depressed nasal bridge 31 HP:0005280
6 nephroblastoma 31 HP:0002667
7 overgrowth 31 HP:0001548

Symptoms via clinical synopsis from OMIM:

56
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...

Drugs for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
2 Natriuretic Agents Phase 4
3 diuretics Phase 4
4
Aminolevulinic acid Approved Phase 3 106-60-5 137
5
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
6 Dermatologic Agents Phase 3
7 Photosensitizing Agents Phase 3
8 Trace Elements Phase 3
9 Micronutrients Phase 3
10 Antioxidants Phase 3
11 Nutrients Phase 3
12 Protective Agents Phase 3
13 Vitamins Phase 3
14
Fulvestrant Approved, Investigational Phase 1, Phase 2 129453-61-8 104741 17756771
15
Exemestane Approved, Investigational Phase 1, Phase 2 107868-30-4 60198
16 Estrogens Phase 1, Phase 2
17 Aromatase Inhibitors Phase 1, Phase 2
18 Hormone Antagonists Phase 1, Phase 2
19 Estrogen Antagonists Phase 1, Phase 2
20 Antineoplastic Agents, Hormonal Phase 1, Phase 2
21 Steroid Synthesis Inhibitors Phase 1, Phase 2
22 Estrogen Receptor Antagonists Phase 1, Phase 2
23 Hormones Phase 1, Phase 2
24
Mechlorethamine Approved, Investigational Phase 1 51-75-2 4033
25
Demeclocycline Approved Phase 1 127-33-3 5311063
26 Pharmaceutical Solutions Phase 1
27 Cola Phase 1
28 lysine Phase 1
29 Anesthetics Phase 1
30 Contraceptives, Oral Phase 1
31 Anti-Bacterial Agents Phase 1
32 Anti-Infective Agents Phase 1
33 Contraceptive Agents Phase 1
34
Sodium citrate Approved, Investigational 68-04-2
35
Tolnaftate Approved, Investigational, Vet_approved 2398-96-1 5510
36
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
37 Orange Approved
38
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
39 Citrate
40 Carboxymethylcellulose Sodium
41 Antifungal Agents

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Randomized, Controlled, Multi-Centered, Double-Blind Investigation of Injectable Poly-L-Lactic Acid (Sculptra Aesthetic) for Improving Facial Wrinkles and Skin Quality Completed NCT02003833 Phase 4
2 Barrow 5-ALA Intraoperative Confocal Evaluation Trial Unknown status NCT01502280 Phase 3 5-Aminolevulinic acid (ALA);Placebo - ascorbic acid
3 A Randomised Double-blind Phase IIa Study (With Combination Safety Run-in) to Assess the Safety and Efficacy of AZD4547 in Combination With Fulvestrant vs. Fulvestrant Alone in ER+ Breast Cancer Patients With FGFR1 Polysomy or Gene Amplification Who Have Progressed Following Treatment With Prior Endocrine Therapy (Adjuvant or First-line Metastatic) (GLOW) Completed NCT01202591 Phase 1, Phase 2 AZD4547;Exemestane;Placebo;Fulvestrant
4 A Multicenter Phase II Study of 5-Aminolevulinic Acid (ALA) to Enhance Visualization and Resection of Newly Diagnosed or Recurrent Malignant Gliomas Withdrawn NCT01445691 Phase 2 5-ALA (Gliolan)
5 Phase 1B Study of KCC Peptide Application in the Colon Completed NCT02156557 Phase 1
6 Co-registered Fluorescence-Enhanced Resection of Brain Tumors Stage I: Correlation With MR and Biopsy Completed NCT00870779 Phase 1 5-aminolevulinic acid
7 A Phase 1B In-Vivo Esophageal Protocol for Detection of Neoplasia in the Digestive Tract Completed NCT01630798 Phase 1 GI heptapeptide
8 A Phase I In-Vivo Esophageal Protocol for Detection of Neoplasia in the Digestive Tract Completed NCT01391208 Phase 1 GI heptapeptide
9 Near-Infrared Imaging of Fluorescent Dyes for Lymph Node Mapping Completed NCT01095913 Phase 1 Indocyanine green (ICG)
10 A Phase I In-Vivo Colon Protocol for Detection of Neoplasia in the Digestive Tract (U54) Completed NCT01722058 Phase 1 Peptide application
11 Diagnostic Nodal Staging for Melanoma With Nuclear and Near-Infrared (NIR) Molecular Optical Imaging Completed NCT01295931 Phase 1 Indocyanine Green (IC-Green)
12 Two-Part Study to Evaluate the Safety and Efficacy of Image Guided Surgery Using Indocyanine Green for Intramolecular Imaging of Nervous System Tumors Compared to Standard of Care, (TumorGlow) Enrolling by invitation NCT03262636 Phase 1 Indocyanine Green
13 Demeclocycline Fluorescence for Intraoperative Delineation Brain Tumors Not yet recruiting NCT02740933 Phase 1 Demeclocycline
14 Phase I Study of Orally Administered Aminolevulinic Acid for Resection of Malignant Astrocytomas Terminated NCT01502605 Phase 1 5-Aminolevulinic Acid
15 Proof of Concept Trial of a Novel Imaging System to Assess and Document Choroidal Reflectance in Infants for the Detection of Cataract and Media Opacities. Unknown status NCT03035292
16 An Open-label Study Assessing the Effect of Gelesis100 on Weight Loss and Weight Maintenance in Overweight and Obese Subjects Who Completed the GLOW Study (G-04) Completed NCT03021291
17 The Clarus Video System (Trachway) and Direct Laryngoscope for Endotracheal Intubation With Cricoid Pressure in Simulated Rapid Sequence Induction Intubation: A Prospective Randomized Controlled Trial Completed NCT03841890
18 The Impact of GlowCaps Connect™ and Its Services on Hypertension Medication Adherence: A Randomized Controlled Trial Completed NCT00985452
19 Comparing Approaches to Enhanced Prenatal Care to Improve Maternal and Child Health in Central CA Recruiting NCT04154423
20 Sensitivity and Specificity of the Red Reflex Test for Detecting Anterior and Posterior Segment Ophthalmic Pathology in the Pediatric Population Recruiting NCT04125043
21 MemoryShape® and MemoryGel® Breast Implants Post Approval New Enrollment Study ("Glow Study") Recruiting NCT02919592
22 Investigation of Non-Invasive Hydration Monitoring With Smart Water Bottle to Increase Fluid Intake in Patients With Nephrolithiasis and Low Urine Volume Recruiting NCT02938884
23 Feasibility and Effects of Taking Cold Showers: A Randomized Controlled Study Recruiting NCT04130126
24 Perceptual-Cognitive Training After a Mild Traumatic Brain Injury: Towards a Sensitive Marker for Recovery Active, not recruiting NCT03213730
25 Keep Achieving:The Impact of Group Based Activity Programmes on Children Who Have Autism and Their Families Not yet recruiting NCT04165655
26 Feasibility of Using the GlowCap Reminder System in Patients With Early Stage Breast Cancer Receiving Adjuvant Endocrine Therapy Terminated NCT01239251
27 An Exploratory Study on Optical Assessment of Oral Mucositis Terminated NCT00488332

Search 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:

40
Lung, Brain, Breast, Bone, Colon, Skin, Lymph Node

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

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

# Title Authors PMID Year
1
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. 61 56 6
24676357 2014
2
Hotspot mutations in DICER1 causing GLOW Syndrome-associated macrocephaly via modulation of specific microRNA populations results in activation of PI3K/ATK/mTOR signaling. 61
31232238 2019

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 DICER1, ASP1713VALSNV Pathogenic 599261
2 DICER1 DICER1, ASP1709TYRSNV Pathogenic 599262

UniProtKB/Swiss-Prot genetic disease variations for Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor:

73
# Symbol AA change Variation ID SNP ID
1 DICER1 p.Asp1709Tyr VAR_081918
2 DICER1 p.Asp1713Val VAR_081919

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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