MRD2
MCID: ATS384
MIFTS: 38

Autosomal Dominant Non-Syndromic Intellectual Disability 2 (MRD2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 2

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 2:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 2 12 15
Mental Retardation, Autosomal Dominant 2 72
Mrd2 12

Characteristics:

HPO:

32
autosomal dominant non-syndromic intellectual disability 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070032
UMLS 72 C3279842

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 2

UniProtKB/Swiss-Prot : 74 Mental retardation, autosomal dominant 2: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 2, also known as mental retardation, autosomal dominant 2, is related to cholestasis, progressive familial intrahepatic, 5 and bilirubin metabolic disorder. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 2 is GSTA3 (Glutathione S-Transferase Alpha 3), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Celecoxib Pathway, Pharmacodynamics. The drugs Dexamethasone and Mercaptopurine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, thyroid and eye, and related phenotypes are seizures and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DOCK8 on chromosome 9p24.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 9
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Non-Syndromic Intellectual Disability 27

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 10.2 NR1I3 NR1I2
2 bilirubin metabolic disorder 10.0 PKM NR1I3
3 biliary tract disease 9.9 NR1I3 NR1I2
4 prostate leiomyosarcoma 9.9 KIT HPGDS
5 skin carcinoma in situ 9.7 PPARG HPGDS
6 alcoholic cardiomyopathy 9.6 PPARG PPARA
7 lipodystrophy, familial partial, type 3 9.6 PPARG PPARA
8 idiopathic edema 9.6 PPARG PPARA
9 3-hydroxyacyl-coa dehydrogenase deficiency 9.2 PPARG PPARA
10 large intestine cancer 9.1 PPARG PKM HPGDS
11 autosomal dominant non-syndromic intellectual disability 3 8.2 PPARG PPARA NR1I3 NR1I2 HPGDS GSTA3

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 2

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 delayed speech and language development 32 HP:0000750

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.15 NR1I2 NR1I3 PPARA PPARG KIT PKM
2 Decreased viability GR00221-A-2 10.15 NR1I2 NR1I3 PPARA PPARG
3 Decreased viability GR00221-A-3 10.15 PPARA PPARG
4 Decreased viability GR00221-A-4 10.15 PPARA PPARG PKM
5 Decreased viability GR00231-A 10.15 PKM
6 Decreased viability GR00301-A 10.15 NR1I2 NR1I3 PPARA KIT
7 Decreased viability GR00342-S-1 10.15 PKM
8 Decreased viability GR00342-S-2 10.15 PKM
9 Decreased viability GR00342-S-3 10.15 PKM
10 Decreased viability GR00381-A-1 10.15 PPARA
11 Decreased viability GR00402-S-2 10.15 NR1I2 NR1I3 PPARA PPARG KIT PKM

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 DOCK8 HPGDS KIT NR1I2 NR1I3 PPARA
2 liver/biliary system MP:0005370 9.35 KIT NR1I2 NR1I3 PPARA PPARG
3 mortality/aging MP:0010768 9.23 GSTA3 HPGDS KIT NR1I2 NR1I3 PKM

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Drugs for Autosomal Dominant Non-Syndromic Intellectual Disability 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
2
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
3
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
4
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
5
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
6
leucovorin Approved Phase 2, Phase 3 58-05-9 143 6006
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
8
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
9
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
10
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
12
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
13
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
15 Immunologic Factors Phase 2, Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Anti-Inflammatory Agents Phase 2, Phase 3
18 Gastrointestinal Agents Phase 2, Phase 3
19 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
20 Antiemetics Phase 2, Phase 3
21 Folic Acid Antagonists Phase 2, Phase 3
22 HIV Protease Inhibitors Phase 2, Phase 3
23 Hormones Phase 2, Phase 3
24
protease inhibitors Phase 2, Phase 3
25 glucocorticoids Phase 2, Phase 3
26
Liposomal doxorubicin Phase 2, Phase 3 31703
27 Anti-Infective Agents Phase 2, Phase 3
28 Topoisomerase Inhibitors Phase 2, Phase 3
29 Antibiotics, Antitubercular Phase 2, Phase 3
30 Folate Phase 2, Phase 3
31 Antineoplastic Agents, Hormonal Phase 2, Phase 3
32 Vitamin B9 Phase 2, Phase 3
33 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
34 Tubulin Modulators Phase 2, Phase 3
35 Anti-Bacterial Agents Phase 2, Phase 3
36 Vitamin B Complex Phase 2, Phase 3
37 Immunosuppressive Agents Phase 2, Phase 3
38 Histone Deacetylase Inhibitors Phase 2, Phase 3
39 Dermatologic Agents Phase 2, Phase 3
40 Hormone Antagonists Phase 2, Phase 3
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
42 Peripheral Nervous System Agents Phase 2, Phase 3
43 Etoposide phosphate Phase 2, Phase 3
44 Antimitotic Agents Phase 2, Phase 3
45 Autonomic Agents Phase 2, Phase 3
46 BB 1101 Phase 2, Phase 3
47 Antimetabolites Phase 2, Phase 3
48 Antimetabolites, Antineoplastic Phase 2, Phase 3
49 Antiviral Agents Phase 2, Phase 3
50 Antirheumatic Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective Multicenter Clinical Trial of Treatment Strategy Based on MRD Level After 2 Initial Courses of Chemotherapy in Children and Young Adults With Acute Myeloid Leukemia Recruiting NCT03846362 Phase 3
2 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Total Therapy for Adult T-lymphoblastic Lymphoma/Leukemia Recruiting NCT03564704 Phase 2, Phase 3 Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-mercaptopurine.;Etoposide;Cytarabine;Chidamide
3 A Phase II Study to Evaluate the Safety and the Efficacy of a Blinatumomab Based Consolidation and Maintenance in Patients With High-risk B-cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL). GRAALL-QUEST Recruiting NCT03709719 Phase 2 Blinatumomab Injection
4 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478

Search NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 2

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

41
Myeloid, Thyroid, Eye, B Cells, Skin, Colon

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

(show all 39)
# Title Authors PMID Year
1
Prostaglandin analogue drops for the treatment of soft tissue expansion and exophthalmos in patients with inactive thyroid eye disease. 38
31358139 2019
2
The Injection for the Lower Eyelid Retraction: A Mechanical Analysis of the Lifting Effect of the Hyaluronic Acid. 38
31399822 2019
3
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosis. 38
31283689 2019
4
Ophthalmic Changes Following Maxillectomy With or Without Postoperative Radiation Therapy. 38
31299741 2019
5
The Characteristics of Lower Eyelid "Reverse Ptosis" After Reconstruction of Orbital Floor Wall Fracture Using Transconjunctival Approach. 38
31261339 2019
6
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 38
31162982 2019
7
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 38
31148484 2019
8
Influence of surgical approach for decompression on lower eyelid position in thyroid eye disease. 38
31021263 2019
9
Ophthalmic Changes Following Maxillectomy With or Without Postoperative Radiation Therapy. 38
30896509 2019
10
Objective Comparison of Nasojugal Fold Depth and Lower Eyelid Length After Fat Excision Versus Fat Transpositional Lower Blepharoplasty. 38
30868168 2019
11
Lower eyelid excursion: A functional and cosmetically relevant parameter in the treatment of lower eyelid retraction. 38
30482535 2019
12
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosiss. 38
30550502 2018
13
Relationships between eyelid position and levator-superior rectus complex and inferior rectus muscle in patients with Graves' orbitopathy with unilateral upper eyelid retraction. 38
29959506 2018
14
[Autogenic facia lata suspension for correction of paralytic ectropion]. 38
29996610 2018
15
Change in eyelid parameters after orbital decompression in thyroid-associated orbitopathy. 38
29391576 2018
16
Functional and aesthetic outcomes of eyelid skin grafting in facial nerve palsy. 38
29945894 2018
17
The Effect of Upper Aging Blepharoplasty on Upper and Lower Eyelid Position. 38
29420375 2018
18
Tarsal switch using an anterior approach to correct severe ptosis. 38
29566467 2018
19
Long-Term Follow-Up of Lateral Canthal Resuspension. 38
29480654 2018
20
The Reliability of the Transconjunctival Approach for Orbital Exposure: Measurement of Positional Changes in the Lower Eyelid. 38
29349049 2017
21
Customized Minimally Invasive Orbital Decompression Surgery Improves Lower Eyelid Retraction and Contour in Thyroid Eye Disease. 38
27997462 2017
22
Topographic analysis of eyelid position using digital image processing software. 38
28391655 2017
23
Reconstructive subperiosteal midface lift: A three nonvisible incision approach. 38
28678580 2017
24
Correction of Lower Eyelid Retraction Using Acellular Human Dermis During Orbital Decompression. 38
27046039 2017
25
Fludarabine and cytarabine versus high-dose cytarabine in consolidation treatment of t(8; 21) acute myeloid leukemia: A prospective, randomized study. 38
27673579 2017
26
Association of Eyelid Position and Facial Nerve Palsy With Unresolved Weakness. 38
27311069 2016
27
Tarsoaponeurectomy as an alternative in difficult blepharoptosis cases. 38
27029811 2016
28
Analysis of Lid Contour in Thyroid Eye Disease With Upper and Lower Eyelid Retraction Using Multiple Radial Midpupil Lid Distances. 38
26674885 2016
29
Recession and Extirpation of the Lower Eyelid Retractors for Paralytic Lagophthalmos. 38
26020720 2015
30
Effectiveness of the lower eyelid suspension using fascia lata graft for the treatment of lagophthalmos due to facial paralysis. 38
25821819 2015
31
Correction of lower lid retraction using tarSys bioengineered grafts for graves ophthalmopathy. 38
23659973 2013
32
"En-glove" lysis of lower eyelid retractors with AlloDerm and dermis-fat grafts in lower eyelid retraction surgery. 38
20562664 2011
33
Orbicularis suspension flap and its effect on lower eyelid position: a digital image analysis. 38
20083737 2010
34
Lower eyelid position after transconjunctival lower blepharoplasty with versus without a skin pinch. 38
18209632 2008
35
Prevention of lower eyelid malposition after blepharoplasty: anatomic and technical considerations of the inside-out blepharoplasty. 38
18025355 2007
36
Nuclear receptor and target gene mRNA abundance in duodenum and colon of dogs with chronic enteropathies. 38
16446074 2006
37
Subperiosteal midface lift with or without a hard palate mucosal graft for correction of lower eyelid retraction. 38
16884780 2006
38
The effect of allogeneic stem cell transplantation on outcome in younger acute myeloid leukemia patients with minimal residual disease detected by flow cytometry at the end of post-remission chemotherapy. 38
16769587 2006
39
A procedure to minimize lower lid retraction during large inferior rectus recession in graves ophthalmopathy. 38
16458691 2006

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 2.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.21 PPARG PPARA NR1I3 NR1I2
2 11.09 PPARG HPGDS
3 10.76 SULT1A1 NR1I3
4 10.47 PPARG PPARA NR1I3 NR1I2
5 10.39 NR1I3 NR1I2

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.92 PPARG PPARA NR1I3 NR1I2

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.84 PPARG PPARA NR1I3 NR1I2
2 lipid metabolic process GO:0006629 9.81 SULT1A1 PPARG PPARA HPGDS
3 cell differentiation GO:0030154 9.76 PPARG PPARA NR1I3 NR1I2
4 fatty acid metabolic process GO:0006631 9.65 PPARG PPARA HPGDS
5 hormone-mediated signaling pathway GO:0009755 9.57 PPARG PPARA
6 regulation of circadian rhythm GO:0042752 9.56 PPARG PPARA
7 animal organ regeneration GO:0031100 9.55 PPARG PKM
8 response to lipid GO:0033993 9.52 PPARG PPARA
9 glutathione derivative biosynthetic process GO:1901687 9.49 HPGDS GSTA3
10 transcription initiation from RNA polymerase II promoter GO:0006367 9.46 PPARG PPARA NR1I3 NR1I2
11 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.43 PPARG PPARA
12 negative regulation of cholesterol storage GO:0010887 9.4 PPARG PPARA
13 positive regulation of fatty acid oxidation GO:0046321 9.37 PPARG PPARA
14 negative regulation of sequestering of triglyceride GO:0010891 9.32 PPARG PPARA
15 negative regulation of receptor biosynthetic process GO:0010871 9.26 PPARG PPARA
16 steroid hormone mediated signaling pathway GO:0043401 9.26 PPARG PPARA NR1I3 NR1I2
17 intracellular receptor signaling pathway GO:0030522 8.92 PPARG PPARA NR1I3 NR1I2

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.84 PPARG PPARA NR1I3 NR1I2
2 sequence-specific DNA binding GO:0043565 9.8 PPARG PPARA NR1I3 NR1I2
3 transcription factor binding GO:0008134 9.73 PPARG PPARA NR1I3 NR1I2
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.71 PPARG PPARA NR1I3 NR1I2
5 signaling receptor activity GO:0038023 9.62 PPARG PPARA NR1I3 NR1I2
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 PPARG PPARA NR1I3 NR1I2
7 drug binding GO:0008144 9.54 PPARG PPARA NR1I2
8 RNA polymerase II repressing transcription factor binding GO:0001103 9.51 PPARG PPARA
9 glutathione transferase activity GO:0004364 9.48 HPGDS GSTA3
10 fatty acid binding GO:0005504 9.46 PPARG PPARA
11 nuclear receptor transcription coactivator activity GO:0030374 9.46 PPARG PPARA NR1I3 NR1I2
12 steroid hormone receptor activity GO:0003707 9.26 PPARG PPARA NR1I3 NR1I2
13 nuclear receptor activity GO:0004879 8.92 PPARG PPARA NR1I3 NR1I2
14 metal ion binding GO:0046872 10.07 PPARG PPARA PKM NR1I3 NR1I2 KIT

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 2

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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