MRD4
MCID: ATS386
MIFTS: 25

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 71
Mrd4 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070034
UMLS 71 C2675487

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 4

UniProtKB/Swiss-Prot : 73 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, also known as mental retardation, autosomal dominant 4, is related to syndromic x-linked intellectual disability siderius type and autosomal dominant non-syndromic intellectual disability 3. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 4 is KIRREL3 (Kirre Like Nephrin Family Adhesion Molecule 3), and among its related pathways/superpathways is Herpes simplex virus 1 infection. The drugs Sargramostim and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include eye.

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.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 4

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
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability siderius type 10.0 ZNF81 ZNF526
2 autosomal dominant non-syndromic intellectual disability 3 9.8 ZNF526 KIRREL3 CDH15
3 charcot-marie-tooth disease x-linked recessive 4 9.8 ZNF81 ZNF41
4 aland island eye disease 9.7 ZNF81 ZNF41
5 borjeson-forssman-lehmann syndrome 9.6 ZNF81 ZNF41
6 coffin-lowry syndrome 9.4 ZNF81 ZNF41
7 syndromic x-linked intellectual disability 9.2 ZNF81 ZNF674 ZNF41
8 autosomal recessive non-syndromic intellectual disability 9.2 ZNF81 ZNF674 ZC3H14
9 autosomal dominant non-syndromic intellectual disability 5 9.0 ZNF81 ZNF674 ZNF526 ZNF41
10 non-syndromic x-linked intellectual disability 8.9 ZNF81 ZNF674 ZNF526 ZNF41

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 4:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 4

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 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
2
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
5
leucovorin Approved Phase 3 58-05-9 6006 143
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Mercaptopurine Approved Phase 3 50-44-2 667490
8
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
9
Lenograstim Approved, Investigational Phase 3 135968-09-1
10
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
11 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
12
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
13
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
14
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
15
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
16
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
17
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
18
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
19
Pegaspargase Approved, Investigational Phase 2, Phase 3 130167-69-0
20
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
22
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
23 Antiemetics Phase 3
24 Immunologic Factors Phase 3
25 Gastrointestinal Agents Phase 3
26 Methylprednisolone Acetate Phase 3
27 Anti-Infective Agents Phase 3
28 Vitamin B Complex Phase 3
29 Folic Acid Antagonists Phase 3
30 Autonomic Agents Phase 3
31 Hormone Antagonists Phase 3
32 Vitamin B9 Phase 3
33 Dermatologic Agents Phase 3
34 Anti-Inflammatory Agents Phase 3
35 Antiviral Agents Phase 3
36 Antimitotic Agents Phase 3
37 Adjuvants, Immunologic Phase 3
38 Imatinib Mesylate Phase 3 220127-57-1 123596
39 Folate Phase 3
40 Antirheumatic Agents Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 BB 1101 Phase 3
43 glucocorticoids Phase 3
44 Immunosuppressive Agents Phase 3
45 Antimetabolites Phase 3
46 Hormones Phase 3
47 Anti-Bacterial Agents Phase 2, Phase 3
48 HIV Protease Inhibitors Phase 2, Phase 3
49 Alkylating Agents Phase 2, Phase 3
50
protease inhibitors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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) Recruiting NCT02611492 Phase 3 Nilotinib;Methotrexate;Aracytine (Ara C);Granulocyte Colony-Stimulating Factor (G-CSF);Depomedrol;Dexamethasone;Vincristine;Imatinib;6 Mercaptopurine (6MP)
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 Randomized Phase II Study of Acalabrutinib (ACA) + Venetoclax (VEN) +/- Early Obinutuzumab (OBIN) for Patients With Chronic Lymphocytic Leukemia (CLL) Not yet recruiting NCT04169737 Phase 2 Acalabrutinib;Venetoclax

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

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 4:

40
Eye

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. 6
19012874 2008
2
Minimal residual disease undetectable by next-generation sequencing predicts improved outcome in CLL after chemoimmunotherapy. 61
31537528 2019
3
Glomerular filtration rate estimation in people older than 85: Comparison between CKD-EPI, MDRD-IDMS and BIS1 equations. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIRREL3 NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile)SNV Likely pathogenic 375632 rs1057519593 11:126294793-126294793 11:126424898-126424898
2 KIRREL3 NM_032531.4(KIRREL3):c.118C>T (p.Arg40Trp)SNV Uncertain significance 2886 rs119462978 11:126432745-126432745 11:126562850-126562850
3 KIRREL3 NM_032531.4(KIRREL3):c.1007G>A (p.Arg336Gln)SNV Uncertain significance 2887 rs114378922 11:126316772-126316772 11:126446877-126446877
4 KIRREL3 NM_032531.4(KIRREL3):c.2191G>T (p.Val731Phe)SNV Uncertain significance 2888 rs119462980 11:126294621-126294621 11:126424726-126424726
5 KIRREL3 NM_032531.4(KIRREL3):c.1238C>T (p.Thr413Ile)SNV not provided 585148 rs1565456303 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

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 ZNF81 ZNF674 ZNF41

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 4

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.17 ZNF81 ZNF674 ZNF526 ZNF41 ZC3H14 TRIT1

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 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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