ODLURO
MCID: ODN024
MIFTS: 21

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 56 73 17
Odluro 56 73
O''''donnell-Luria-Rodan Syndrome 6

Characteristics:

OMIM:

56
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 recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for O'donnell-Luria-Rodan Syndrome

OMIM : 56 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 odluro. An important gene associated with O'donnell-Luria-Rodan Syndrome is KMT2E (Lysine Methyltransferase 2E). Affiliated tissues include eye, brain and skin, and related phenotypes are seizures and epileptic encephalopathy

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

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 seizures 31 very rare (1%) HP:0001250
2 epileptic encephalopathy 31 very rare (1%) HP:0200134
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 feeding difficulties 31 HP:0011968
9 cryptorchidism 31 HP:0000028
10 downslanted palpebral fissures 31 HP:0000494
11 vomiting 31 HP:0002013
12 prominent forehead 31 HP:0011220
13 full cheeks 31 HP:0000293
14 dolichocephaly 31 HP:0000268
15 generalized hypotonia 31 HP:0001290
16 periorbital fullness 31 HP:0000629
17 anxiety 31 HP:0000739
18 deeply set eye 31 HP:0000490
19 aggressive behavior 31 HP:0000718
20 tapered finger 31 HP:0001182
21 prolonged neonatal jaundice 31 HP:0006579
22 delayed myelination 31 HP:0012448
23 abnormal corpus callosum morphology 31 HP:0001273
24 delayed ability to walk 31 HP:0031936
25 skin-picking 31 HP:0012166

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
dolichocephaly

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

Head And Neck Face:
prominent forehead
full cheeks
prominent nasolabial folds
dysmorphic facial features, mild

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
Genitourinary External Genitalia Male:
cryptorchidism

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

Skeletal Hands:
tapering fingers

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

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

40
Eye, Brain, Skin

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. 56 6
31079897 2019

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.450dup (p.Arg151Ter)duplication Pathogenic 638174 7:104707206-104707207 7:105066759-105066760
2 KMT2E NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)deletion Likely pathogenic 617565 rs1562927768 7:104741923-104741927 7:105101476-105101480
3 KMT2E NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter)SNV Likely pathogenic 638171 7:104746306-104746306 7:105105859-105105859
4 KMT2E NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter)SNV Likely pathogenic 638172 7:104749474-104749474 7:105109027-105109027
5 KMT2E NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val)SNV Likely pathogenic 638176 7:104747092-104747092 7:105106645-105106645
6 KMT2E NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)SNV Uncertain significance 638175 7:104707175-104707175 7:105066728-105066728

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 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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