ODLURO
MCID: ODN024
MIFTS: 25

O'donnell-Luria-Rodan Syndrome (ODLURO)

Categories: Genetic diseases, Neuronal 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 73 29 6 17
Odluro 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
variable phenotype and severity


HPO:

31
o'donnell-luria-rodan syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



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) (Updated 05-Mar-2021)

MalaCards based summary : O'donnell-Luria-Rodan Syndrome, also known as odluro, is related to alacrima, achalasia, and mental retardation syndrome and hypotonia. An important gene associated with O'donnell-Luria-Rodan Syndrome is KMT2E (Lysine Methyltransferase 2E (Inactive)). Affiliated tissues include eye and brain, and related phenotypes are epileptic encephalopathy and seizure

UniProtKB/Swiss-Prot : 73 O'Donnell-Luria-Rodan syndrome: A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities.

Related Diseases for O'donnell-Luria-Rodan Syndrome

Diseases related to O'donnell-Luria-Rodan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 9.9
2 hypotonia 9.9

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

Human phenotypes related to O'donnell-Luria-Rodan Syndrome:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 epileptic encephalopathy 31 very rare (1%) HP:0200134
2 seizure 31 very rare (1%) HP:0001250
3 macrocephaly 31 HP:0000256
4 kyphosis 31 HP:0002808
5 global developmental delay 31 HP:0001263
6 delayed speech and language development 31 HP:0000750
7 abnormal facial shape 31 HP:0001999
8 vomiting 31 HP:0002013
9 prominent forehead 31 HP:0011220
10 full cheeks 31 HP:0000293
11 cryptorchidism 31 HP:0000028
12 anxiety 31 HP:0000739
13 dolichocephaly 31 HP:0000268
14 downslanted palpebral fissures 31 HP:0000494
15 deeply set eye 31 HP:0000490
16 tapered finger 31 HP:0001182
17 prolonged neonatal jaundice 31 HP:0006579
18 feeding difficulties 31 HP:0011968
19 aggressive behavior 31 HP:0000718
20 generalized hypotonia 31 HP:0001290
21 periorbital fullness 31 HP:0000629
22 abnormal corpus callosum morphology 31 HP:0001273
23 delayed myelination 31 HP:0012448
24 delayed ability to walk 31 HP:0031936
25 skin-picking 31 HP:0012166

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
dolichocephaly

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
anxiety
skin-picking
autistic features
aggression
more
Abdomen Gastrointestinal:
vomiting
feeding difficulties
gastrointestinal reflux
bowel motility issues

Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Skin:
neonatal jaundice

Skeletal Spine:
kyphosis

Neurologic Central Nervous System:
global developmental delay
delayed myelination
seizures (in some patients)
speech delay, mild
articulation difficulties
more
Head And Neck Face:
prominent forehead
full cheeks
prominent nasolabial folds
dysmorphic facial features, mild

Head And Neck Eyes:
periorbital fullness
downslanting palpebral fissures
deep-set eyes

Skeletal Hands:
tapering fingers

Clinical features from OMIM®:

618512 (Updated 05-Mar-2021)

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

Genetic tests related to O'donnell-Luria-Rodan Syndrome:

# Genetic test Affiliating Genes
1 O'donnell-Luria-Rodan Syndrome 29 KMT2E

Anatomical Context for O'donnell-Luria-Rodan Syndrome

MalaCards organs/tissues related to O'donnell-Luria-Rodan Syndrome:

40
Eye, Brain

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. 6 57
31079897 2019
2
ODLURO syndrome: personal experience and review of the literature. 61
32691224 2021

Variations for O'donnell-Luria-Rodan Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KMT2E NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter) SNV Pathogenic 638171 rs1584802744 7:104746306-104746306 7:105105859-105105859
2 KMT2E NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) Deletion Pathogenic 617565 rs1562927768 7:104741923-104741927 7:105101476-105101480
3 KMT2E NM_182931.3(KMT2E):c.450dup (p.Arg151Ter) Duplication Pathogenic 638174 rs1584751177 7:104707206-104707207 7:105066759-105066760
4 KMT2E NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) SNV Pathogenic 638175 rs74375534 7:104707175-104707175 7:105066728-105066728
5 KMT2E NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val) SNV Pathogenic 638176 rs1584803942 7:104747092-104747092 7:105106645-105106645
6 KMT2E NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs) Duplication Pathogenic 982407 7:104717848-104717849 7:105077401-105077402
7 KMT2E NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) SNV Likely pathogenic 638172 rs186916831 7:104749474-104749474 7:105109027-105109027
8 KMT2E NM_182931.3(KMT2E):c.3917dup (p.Pro1307fs) Duplication Likely pathogenic 928846 7:104750995-104750996 7:105110548-105110549
9 KMT2E NM_182931.3(KMT2E):c.1922C>G (p.Thr641Ser) SNV Uncertain significance 982671 7:104742367-104742367 7:105101920-105101920

UniProtKB/Swiss-Prot genetic disease variations for O'donnell-Luria-Rodan Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KMT2E p.Val140Ile VAR_083126
2 KMT2E p.Tyr284His VAR_083128
3 KMT2E p.Asp907Val VAR_083132
4 KMT2E p.Pro1376Ser VAR_083137

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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