MRD2
MCID: ATS384
MIFTS: 31

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 71
Mrd2 12

Characteristics:

HPO:

31
autosomal dominant non-syndromic intellectual disability 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 2

UniProtKB/Swiss-Prot : 73 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 cloacal exstrophy and bladder exstrophy-epispadias-cloacal exstrophy complex. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 2 is DOCK8 (Dedicator Of Cytokinesis 8). The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, eye and thyroid, and related phenotypes are seizure 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 24
Autosomal Dominant Non-Syndromic Intellectual Disability 27 Autosomal Dominant Non-Syndromic Intellectual Disability 32
Autosomal Dominant Non-Syndromic Intellectual Disability 44 Syngap1-Related Non-Syndromic Intellectual Disability

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

# Related Disease Score Top Affiliating Genes
1 cloacal exstrophy 10.2 CNTNAP3B CNTNAP3
2 bladder exstrophy-epispadias-cloacal exstrophy complex 10.1 CNTNAP3B CNTNAP3
3 exstrophy of bladder 10.0 CNTNAP3B CNTNAP3
4 chromosome 9p deletion syndrome 10.0 KANK1 DOCK8
5 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.9 CNTNAP3B CNTNAP3

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:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 delayed speech and language development 31 HP:0000750

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 all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
2
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
3
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
4
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
5
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
6
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
7
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
9
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
10
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
11
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
12
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
13
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
15 Etoposide phosphate Phase 2, Phase 3
16 Hormones Phase 2, Phase 3
17 Anti-Infective Agents Phase 2, Phase 3
18 Antineoplastic Agents, Hormonal Phase 2, Phase 3
19 Vitamin B Complex Phase 2, Phase 3
20 Folic Acid Antagonists Phase 2, Phase 3
21 Hormone Antagonists Phase 2, Phase 3
22 Histone Deacetylase Inhibitors Phase 2, Phase 3
23 Antiviral Agents Phase 2, Phase 3
24 Alkylating Agents Phase 2, Phase 3
25 Immunosuppressive Agents Phase 2, Phase 3
26 Antiemetics Phase 2, Phase 3
27 Dermatologic Agents Phase 2, Phase 3
28 Folate Phase 2, Phase 3
29 Anti-Bacterial Agents Phase 2, Phase 3
30
Liposomal doxorubicin Phase 2, Phase 3 31703
31 Gastrointestinal Agents Phase 2, Phase 3
32 Immunologic Factors Phase 2, Phase 3
33 Tubulin Modulators Phase 2, Phase 3
34 glucocorticoids Phase 2, Phase 3
35 Antibiotics, Antitubercular Phase 2, Phase 3
36 Antirheumatic Agents Phase 2, Phase 3
37 Vitamin B9 Phase 2, Phase 3
38 Antimetabolites Phase 2, Phase 3
39 Antimitotic Agents Phase 2, Phase 3
40 Anti-Inflammatory Agents Phase 2, Phase 3
41
Blinatumomab Approved, Investigational Phase 2 853426-35-4

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
5 Study Protocol for Comparison of Lower Eyelid Retraction Repair With Hard Palate, Autologous Ear Cartilage, and Porcine Acellular Dermal Matrix Spacer Grafts Not yet recruiting NCT04140734

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:

40
Myeloid, Eye, Thyroid, B Cells, Skin, Colon, T Cells

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 2

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

(show all 43)
# Title Authors PMID Year
1
Quantification of changes in eyelid position in patients with dry eye syndrome: A randomized, placebo-controlled multicenter study of application of topical anesthetic. 61
32563539 2020
2
Postoperative Blepharoptosis After Modern Phacoemulsification Procedure. 61
31926884 2020
3
Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. 61
32028368 2020
4
Influence of surgical approach for decompression on lower eyelid position in thyroid eye disease. 61
31021263 2020
5
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 61
31162982 2020
6
Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation. 61
31992840 2020
7
The Characteristics of Lower Eyelid Reverse Ptosis After Reconstruction of Orbital Floor Wall Fracture Using Transconjunctival Approach. 61
31261339 2019
8
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 61
31148484 2019
9
Subtle Eyelid Retraction after Lower Blepharoplasty. 61
31444052 2019
10
The Injection for the Lower Eyelid Retraction: A Mechanical Analysis of the Lifting Effect of the Hyaluronic Acid. 61
31399822 2019
11
Prostaglandin analogue drops for the treatment of soft tissue expansion and exophthalmos in patients with inactive thyroid eye disease. 61
31358139 2019
12
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosis. 61
31283689 2019
13
Ophthalmic Changes Following Maxillectomy With or Without Postoperative Radiation Therapy. 61
31299741 2019
14
Ophthalmic Changes Following Maxillectomy With or Without Postoperative Radiation Therapy. 61
30896509 2019
15
Lower eyelid excursion: A functional and cosmetically relevant parameter in the treatment of lower eyelid retraction. 61
30482535 2019
16
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosiss. 61
30550502 2018
17
Relationships between eyelid position and levator-superior rectus complex and inferior rectus muscle in patients with Graves' orbitopathy with unilateral upper eyelid retraction. 61
29959506 2018
18
[Autogenic facia lata suspension for correction of paralytic ectropion]. 61
29996610 2018
19
Functional and aesthetic outcomes of eyelid skin grafting in facial nerve palsy. 61
29945894 2018
20
Change in eyelid parameters after orbital decompression in thyroid-associated orbitopathy. 61
29391576 2018
21
The Effect of Upper Aging Blepharoplasty on Upper and Lower Eyelid Position. 61
29420375 2018
22
Tarsal switch using an anterior approach to correct severe ptosis. 61
29566467 2018
23
Long-Term Follow-Up of Lateral Canthal Resuspension. 61
29480654 2018
24
The Reliability of the Transconjunctival Approach for Orbital Exposure: Measurement of Positional Changes in the Lower Eyelid. 61
29349049 2017
25
Customized Minimally Invasive Orbital Decompression Surgery Improves Lower Eyelid Retraction and Contour in Thyroid Eye Disease. 61
27997462 2017
26
Topographic analysis of eyelid position using digital image processing software. 61
28391655 2017
27
Reconstructive subperiosteal midface lift: A three nonvisible incision approach. 61
28678580 2017
28
Correction of Lower Eyelid Retraction Using Acellular Human Dermis During Orbital Decompression. 61
27046039 2017
29
Fludarabine and cytarabine versus high-dose cytarabine in consolidation treatment of t(8; 21) acute myeloid leukemia: A prospective, randomized study. 61
27673579 2017
30
Association of Eyelid Position and Facial Nerve Palsy With Unresolved Weakness. 61
27311069 2016
31
Tarsoaponeurectomy as an alternative in difficult blepharoptosis cases. 61
27029811 2016
32
Analysis of Lid Contour in Thyroid Eye Disease With Upper and Lower Eyelid Retraction Using Multiple Radial Midpupil Lid Distances. 61
26674885 2016
33
Recession and Extirpation of the Lower Eyelid Retractors for Paralytic Lagophthalmos. 61
26020720 2015
34
Effectiveness of the lower eyelid suspension using fascia lata graft for the treatment of lagophthalmos due to facial paralysis. 61
25821819 2015
35
Correction of lower lid retraction using tarSys bioengineered grafts for graves ophthalmopathy. 61
23659973 2013
36
"En-glove" lysis of lower eyelid retractors with AlloDerm and dermis-fat grafts in lower eyelid retraction surgery. 61
20562664 2011
37
Orbicularis suspension flap and its effect on lower eyelid position: a digital image analysis. 61
20083737 2010
38
Lower eyelid position after transconjunctival lower blepharoplasty with versus without a skin pinch. 61
18209632 2008
39
Prevention of lower eyelid malposition after blepharoplasty: anatomic and technical considerations of the inside-out blepharoplasty. 61
18025355 2007
40
Nuclear receptor and target gene mRNA abundance in duodenum and colon of dogs with chronic enteropathies. 61
16446074 2006
41
Subperiosteal midface lift with or without a hard palate mucosal graft for correction of lower eyelid retraction. 61
16884780 2006
42
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. 61
16769587 2006
43
A procedure to minimize lower lid retraction during large inferior rectus recession in graves ophthalmopathy. 61
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

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 2

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

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.13 SMCR8 DOCK8 DOCK4
2 nucleic acid binding GO:0003676 9.1 ZNF540 ZNF526 ZNF514 ZNF445 ZMAT1 JRKL

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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