MRD2
MCID: ATS384
MIFTS: 28

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 70
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 : 72 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). Affiliated tissues include myeloid, thyroid and eye, 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

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

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

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, Thyroid, Eye, Skin, Colon

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 2

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

(show all 49)
# Title Authors PMID Year
1
Early Experience With the Clinical Use of Teprotumumab in a Heterogenous Thyroid Eye Disease Population. 61
33710036 2021
2
The Effect of Upper Eyelid Muller Muscle Conjunctival Resection Surgery on Lower Eyelid Position. 61
33706625 2021
3
The influence of luminous intensity on the eyelid aperture and measurement of the margin reflex distance. 61
33663331 2021
4
Quantitative Analysis of Enhanced Selfies in a Young Adult Population. 61
33728627 2021
5
Augmented fascia temporalis sling for paralytic ectropion of the lower lid. 61
33607927 2021
6
New insight into the physiologic function of Müller's muscle. 61
33130032 2021
7
Early peripheral blast cell clearance predicts minimal residual disease status and refines disease prognosis in acute myeloid leukemia. 61
32697337 2020
8
Postoperative Blepharoptosis After Pars Plana Vitrectomy Procedure. 61
33229954 2020
9
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
10
Changes in Lower Lid Position after Standard Phacoemulsification Cataract Surgery. 61
32775804 2020
11
Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. 61
32028368 2020
12
Postoperative Blepharoptosis After Modern Phacoemulsification Procedure. 61
31926884 2020
13
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 61
31162982 2020
14
Influence of surgical approach for decompression on lower eyelid position in thyroid eye disease. 61
31021263 2020
15
Subtle Eyelid Retraction after Lower Blepharoplasty. 61
31444052 2019
16
The Injection for the Lower Eyelid Retraction: A Mechanical Analysis of the Lifting Effect of the Hyaluronic Acid. 61
31399822 2019
17
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 61
31148484 2019
18
The Characteristics of Lower Eyelid Reverse Ptosis After Reconstruction of Orbital Floor Wall Fracture Using Transconjunctival Approach. 61
31261339 2019
19
Prostaglandin analogue drops for the treatment of soft tissue expansion and exophthalmos in patients with inactive thyroid eye disease. 61
31358139 2019
20
Ophthalmic Changes Following Maxillectomy With or Without Postoperative Radiation Therapy. 61
31299741 2019
21
Change in Lower Eyelid Position After Ptosis Repair in Patients With Unilateral Myogenic Versus Aponeurotic Blepharoptosis. 61
31283689 2019
22
Lower eyelid excursion: A functional and cosmetically relevant parameter in the treatment of lower eyelid retraction. 61
30482535 2019
23
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
24
[Autogenic facia lata suspension for correction of paralytic ectropion]. 61
29996610 2018
25
Change in eyelid parameters after orbital decompression in thyroid-associated orbitopathy. 61
29391576 2018
26
Functional and aesthetic outcomes of eyelid skin grafting in facial nerve palsy. 61
29945894 2018
27
The Effect of Upper Aging Blepharoplasty on Upper and Lower Eyelid Position. 61
29420375 2018
28
Tarsal switch using an anterior approach to correct severe ptosis. 61
29566467 2018
29
Long-Term Follow-Up of Lateral Canthal Resuspension. 61
29480654 2018
30
The Reliability of the Transconjunctival Approach for Orbital Exposure: Measurement of Positional Changes in the Lower Eyelid. 61
29349049 2017
31
Customized Minimally Invasive Orbital Decompression Surgery Improves Lower Eyelid Retraction and Contour in Thyroid Eye Disease. 61
27997462 2017
32
Topographic analysis of eyelid position using digital image processing software. 61
28391655 2017
33
Reconstructive subperiosteal midface lift: A three nonvisible incision approach. 61
28678580 2017
34
Correction of Lower Eyelid Retraction Using Acellular Human Dermis During Orbital Decompression. 61
27046039 2017
35
Fludarabine and cytarabine versus high-dose cytarabine in consolidation treatment of t(8; 21) acute myeloid leukemia: A prospective, randomized study. 61
27673579 2017
36
Association of Eyelid Position and Facial Nerve Palsy With Unresolved Weakness. 61
27311069 2016
37
Tarsoaponeurectomy as an alternative in difficult blepharoptosis cases. 61
27029811 2016
38
Analysis of Lid Contour in Thyroid Eye Disease With Upper and Lower Eyelid Retraction Using Multiple Radial Midpupil Lid Distances. 61
26674885 2016
39
Recession and Extirpation of the Lower Eyelid Retractors for Paralytic Lagophthalmos. 61
26020720 2015
40
Effectiveness of the lower eyelid suspension using fascia lata graft for the treatment of lagophthalmos due to facial paralysis. 61
25821819 2015
41
Correction of lower lid retraction using tarSys bioengineered grafts for graves ophthalmopathy. 61
23659973 2013
42
"En-glove" lysis of lower eyelid retractors with AlloDerm and dermis-fat grafts in lower eyelid retraction surgery. 61
20562664 2011
43
Orbicularis suspension flap and its effect on lower eyelid position: a digital image analysis. 61
20083737 2010
44
Lower eyelid position after transconjunctival lower blepharoplasty with versus without a skin pinch. 61
18209632 2008
45
Prevention of lower eyelid malposition after blepharoplasty: anatomic and technical considerations of the inside-out blepharoplasty. 61
18025355 2007
46
Nuclear receptor and target gene mRNA abundance in duodenum and colon of dogs with chronic enteropathies. 61
16446074 2006
47
Subperiosteal midface lift with or without a hard palate mucosal graft for correction of lower eyelid retraction. 61
16884780 2006
48
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
49
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

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DOCK8 NM_203447.4(DOCK8):c.6260G>A (p.Ser2087Asn) SNV Uncertain significance 996938 GRCh37: 9:464179-464179
GRCh38: 9:464179-464179

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 DNA binding GO:0003677 9.63 ZNF540 ZNF526 ZNF514 ZNF445 TIGD1 JRKL
2 guanyl-nucleotide exchange factor activity GO:0005085 9.13 SMCR8 DOCK8 DOCK4
3 nucleic acid binding GO:0003676 9.02 ZNF540 ZNF514 ZNF445 TIGD1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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