ODLURO
MCID: ODN024
MIFTS: 10

O'donnell-Luria-Rodan Syndrome (ODLURO)

Categories: Genetic diseases

Aliases & Classifications for O'donnell-Luria-Rodan Syndrome

MalaCards integrated aliases for O'donnell-Luria-Rodan Syndrome:

Name: O'donnell-Luria-Rodan Syndrome 57
O''''donnell-Luria-Rodan Syndrome 6
Odluro 57

Classifications:



External Ids:

OMIM 57 618512

Summaries for O'donnell-Luria-Rodan Syndrome

OMIM : 57 O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features. Some patients may have autism, seizures, hypotonia, and/or feeding difficulties (summary by O'Donnell-Luria et al., 2019). (618512)

MalaCards based summary : O'donnell-Luria-Rodan Syndrome, is also known as o''''donnell-luria-rodan syndrome. An important gene associated with O'donnell-Luria-Rodan Syndrome is KMT2E (Lysine Methyltransferase 2E).

Related Diseases for O'donnell-Luria-Rodan Syndrome

Symptoms & Phenotypes for O'donnell-Luria-Rodan Syndrome

Clinical features from OMIM:

618512

Drugs & Therapeutics for O'donnell-Luria-Rodan Syndrome

Search Clinical Trials , NIH Clinical Center for O'donnell-Luria-Rodan Syndrome

Genetic Tests for O'donnell-Luria-Rodan Syndrome

Anatomical Context for O'donnell-Luria-Rodan Syndrome

Publications for O'donnell-Luria-Rodan Syndrome

Articles related to O'donnell-Luria-Rodan Syndrome:

# Title Authors PMID Year
1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 8 71
31079897 2019

Variations for O'donnell-Luria-Rodan Syndrome

ClinVar genetic disease variations for O'donnell-Luria-Rodan Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KMT2E NM_182931.3(KMT2E): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic 7:104746306-104746306 7:105105859-105105859
2 KMT2E NM_182931.3(KMT2E): c.3554C> G (p.Ser1185Ter) single nucleotide variant Pathogenic 7:104749474-104749474 7:105109027-105109027
3 KMT2E NM_182931.3(KMT2E): c.450dup (p.Arg151Ter) duplication Pathogenic 7:104707207-104707207 7:105066760-105066760
4 KMT2E NM_182931.3(KMT2E): c.418G> A (p.Val140Ile) single nucleotide variant Pathogenic 7:104707175-104707175 7:105066728-105066728
5 KMT2E NM_182931.3(KMT2E): c.2720A> T (p.Asp907Val) single nucleotide variant Pathogenic 7:104747092-104747092 7:105106645-105106645
6 KMT2E NM_182931.3(KMT2E): c.1776_1780del (p.Lys593fs) deletion Pathogenic/Likely pathogenic 7:104741923-104741927 7:105101476-105101480

Expression for O'donnell-Luria-Rodan Syndrome

Search GEO for disease gene expression data for O'donnell-Luria-Rodan Syndrome.

Pathways for O'donnell-Luria-Rodan Syndrome

GO Terms for O'donnell-Luria-Rodan Syndrome

Sources for O'donnell-Luria-Rodan Syndrome

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
Content
Loading form....