MRD4
MCID: ATS386
MIFTS: 17

Autosomal Dominant Non-Syndromic Intellectual Disability 4 (MRD4)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 4

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 4:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 4 12 15
Mental Retardation, Autosomal Dominant 4 72
Mrd4 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070034
UMLS 72 C2675487

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 4

UniProtKB/Swiss-Prot : 74 Mental retardation, autosomal dominant 4: 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 4, is also known as mental retardation, autosomal dominant 4. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 4 is ESS2 (Ess-2 Splicing Factor Homolog). The drugs Pegaspargase and Prednisone have been mentioned in the context of this disorder.

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2.

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Drugs for Autosomal Dominant Non-Syndromic Intellectual Disability 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
2
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
3
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
4
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
7
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
8
Mercaptopurine Approved Phase 3 50-44-2 667490
9
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
10
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
11
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
13
leucovorin Approved Phase 3 58-05-9 143 6006
14
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
16
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
17
Lenograstim Approved, Investigational Phase 3 135968-09-1
18
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
19
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
21
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
22 Alkylating Agents Phase 2, Phase 3
23 HIV Protease Inhibitors Phase 2, Phase 3
24
protease inhibitors Phase 2, Phase 3
25
Liposomal doxorubicin Phase 2, Phase 3 31703
26 Topoisomerase Inhibitors Phase 2, Phase 3
27 Antibiotics, Antitubercular Phase 2, Phase 3
28 Anti-Bacterial Agents Phase 2, Phase 3
29 Histone Deacetylase Inhibitors Phase 2, Phase 3
30 Etoposide phosphate Phase 2, Phase 3
31 Antineoplastic Agents, Alkylating Phase 2, Phase 3
32 Gastrointestinal Agents Phase 3
33 Antiemetics Phase 3
34 Anti-Inflammatory Agents Phase 3
35 Peripheral Nervous System Agents Phase 3
36 Folic Acid Antagonists Phase 3
37 Antineoplastic Agents, Phytogenic Phase 3
38 Prednisolone acetate Phase 3
39 Adjuvants, Immunologic Phase 3
40 glucocorticoids Phase 3
41 Anti-Infective Agents Phase 3
42 Hormones Phase 3
43 Methylprednisolone Acetate Phase 3
44 Nucleic Acid Synthesis Inhibitors Phase 3
45 Tubulin Modulators Phase 3
46 Vitamin B9 Phase 3
47 Immunosuppressive Agents Phase 3
48 Antineoplastic Agents, Hormonal Phase 3
49 Vitamin B Complex Phase 3
50 Imatinib Mesylate Phase 3 220127-57-1 123596

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Phase III Study, Randomized, to Evaluate the Reduction of Chemotherapy Intensity in Association With Nilotinib (Tasigna®) in Philadelphia Chromosome-positive (Ph+) ALL of Young Adults (18-59 Years Old) (GRAAPH-2014) Suspended NCT02611492 Phase 3 Nilotinib;Methotrexate;Aracytine (Ara C);Granulocyte Colony-Stimulating Factor (G-CSF);Depomedrol;Dexamethasone;Vincristine;Imatinib;6 Mercaptopurine (6MP)

Search NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 4:

# Title Authors PMID Year
1
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. 71
19012874 2008
2
Glomerular filtration rate estimation in people older than 85: Comparison between CKD-EPI, MDRD-IDMS and BIS1 equations. 38
28434703 2017

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 4

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 4:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIRREL3 NM_032531.4(KIRREL3): c.2019G> A (p.Met673Ile) single nucleotide variant Likely pathogenic rs1057519593 11:126294793-126294793 11:126424898-126424898
2 KIRREL3 NM_032531.4(KIRREL3): c.118C> T (p.Arg40Trp) single nucleotide variant Uncertain significance rs119462978 11:126432745-126432745 11:126562850-126562850
3 KIRREL3 NM_032531.4(KIRREL3): c.1007G> A (p.Arg336Gln) single nucleotide variant Uncertain significance rs114378922 11:126316772-126316772 11:126446877-126446877
4 KIRREL3 NM_032531.4(KIRREL3): c.2191G> T (p.Val731Phe) single nucleotide variant Uncertain significance rs119462980 11:126294621-126294621 11:126424726-126424726
5 KIRREL3 NM_032531.4(KIRREL3): c.1238C> T (p.Thr413Ile) single nucleotide variant not provided 11:126314888-126314888 11:126444993-126444993

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 4.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 4

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 4

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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