MCID: ATS386
MIFTS: 16

Autosomal Dominant Non-Syndromic Intellectual Disability 4

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 74
Mrd4 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070034
UMLS 74 C2675487

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 4

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.

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 Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include b cells.

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 all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
3
leucovorin Approved Phase 3 58-05-9 143 6006
4
Lenograstim Approved, Investigational Phase 3 135968-09-1
5
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
6
Mercaptopurine Approved Phase 3 50-44-2 667490
7
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
8
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
9
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
11
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
12
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
13
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
15
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
16 Immunologic Factors Phase 3,Phase 2
17 Antineoplastic Agents, Hormonal Phase 3
18 BB 1101 Phase 3
19 Vitamin B9 Phase 3
20 Hormones Phase 3
21 Antimitotic Agents Phase 3
22 Antirheumatic Agents Phase 3
23 Anti-Infective Agents Phase 3
24 Methylprednisolone Acetate Phase 3
25 Nucleic Acid Synthesis Inhibitors Phase 3
26 Peripheral Nervous System Agents Phase 3
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
28 Anti-Inflammatory Agents Phase 3
29 Hormone Antagonists Phase 3
30 glucocorticoids Phase 3
31 Gastrointestinal Agents Phase 3
32 Autonomic Agents Phase 3
33 Immunosuppressive Agents Phase 3
34 Antiemetics Phase 3
35 Antiviral Agents Phase 3
36 Vitamin B Complex Phase 3
37 Dermatologic Agents Phase 3
38 Folic Acid Antagonists Phase 3
39 Folate Phase 3
40 Adjuvants, Immunologic Phase 3
41 Antineoplastic Agents, Phytogenic Phase 3
42 Antimetabolites Phase 3
43 Prednisolone acetate Phase 3
44 Antimetabolites, Antineoplastic Phase 3
45 Imatinib Mesylate Phase 3 220127-57-1 123596
46
Blinatumomab Approved, Investigational Phase 2 853426-35-4
47 Immunoglobulins Phase 2
48 Antibodies, Bispecific Phase 2
49 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Randomized Trial of the Reduction of Chemotherapy in Philadelphia Chromosome-positive ALL of Young Adults Suspended NCT02611492 Phase 3 Nilotinib;Methotrexate;Aracytine (Ara C);Granulocyte Colony-Stimulating Factor (G-CSF);Depomedrol;Dexamethasone;Vincristine;Imatinib;6 Mercaptopurine (6MP)
2 Blinatumomab in High-risk B-cell Precursor Acute Lymphoblastic Leukemia Recruiting NCT03709719 Phase 2 Blinatumomab Injection

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:

42
B Cells

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 4

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

# Title Authors Year
1
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. ( 19012874 )
2008

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 Assembly Location
1 KIRREL3 NM_032531.3(KIRREL3): c.118C> T (p.Arg40Trp) single nucleotide variant Uncertain significance rs119462978 GRCh37 Chromosome 11, 126432745: 126432745
2 KIRREL3 NM_032531.3(KIRREL3): c.118C> T (p.Arg40Trp) single nucleotide variant Uncertain significance rs119462978 GRCh38 Chromosome 11, 126562850: 126562850
3 KIRREL3 NM_032531.3(KIRREL3): c.1007G> A (p.Arg336Gln) single nucleotide variant Uncertain significance rs114378922 GRCh37 Chromosome 11, 126316772: 126316772
4 KIRREL3 NM_032531.3(KIRREL3): c.1007G> A (p.Arg336Gln) single nucleotide variant Uncertain significance rs114378922 GRCh38 Chromosome 11, 126446877: 126446877
5 KIRREL3 NM_032531.3(KIRREL3): c.2191G> T (p.Val731Phe) single nucleotide variant Uncertain significance rs119462980 GRCh37 Chromosome 11, 126294621: 126294621
6 KIRREL3 NM_032531.3(KIRREL3): c.2191G> T (p.Val731Phe) single nucleotide variant Uncertain significance rs119462980 GRCh38 Chromosome 11, 126424726: 126424726
7 KIRREL3 NM_032531.3(KIRREL3): c.2019G> A (p.Met673Ile) single nucleotide variant Likely pathogenic rs1057519593 GRCh37 Chromosome 11, 126294793: 126294793
8 KIRREL3 NM_032531.3(KIRREL3): c.2019G> A (p.Met673Ile) single nucleotide variant Likely pathogenic rs1057519593 GRCh38 Chromosome 11, 126424898: 126424898
9 KIRREL3 NM_032531.3(KIRREL3): c.1238C> T (p.Thr413Ile) single nucleotide variant not provided GRCh38 Chromosome 11, 126444993: 126444993
10 KIRREL3 NM_032531.3(KIRREL3): c.1238C> T (p.Thr413Ile) single nucleotide variant not provided GRCh37 Chromosome 11, 126314888: 126314888

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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