O'donnell-Luria-Rodan Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618512

MeSH ⁴³ D065886

MedGen ⁴¹ CN261160

EFO ¹⁷ EFO_0010277

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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 (Inactive)). Affiliated tissues include eye, brain and skin, 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.

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Related Diseases for O'donnell-Luria-Rodan Syndrome

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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	global developmental delay ³¹		HP:0001263
4	kyphosis ³¹		HP:0002808
5	macrocephaly ³¹		HP:0000256
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	feeding difficulties ³¹		HP:0011968
12	cryptorchidism ³¹		HP:0000028
13	anxiety ³¹		HP:0000739
14	dolichocephaly ³¹		HP:0000268
15	downslanted palpebral fissures ³¹		HP:0000494
16	deeply set eye ³¹		HP:0000490
17	tapered finger ³¹		HP:0001182
18	prolonged neonatal jaundice ³¹		HP:0006579
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	skin-picking ³¹		HP:0012166
24	delayed myelination ³¹		HP:0012448
25	delayed ability to walk ³¹		HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
global developmental delay
delayed myelination
seizures (in some patients)
speech delay, mild
articulation difficulties
more

Head And Neck Head:
macrocephaly
dolichocephaly

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

Neurologic Behavioral Psychiatric Manifestations:
anxiety
self-injurious behavior
skin-picking
autistic features
aggression
more

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Skin:
neonatal jaundice

Skeletal Spine:
kyphosis

Abdomen Gastrointestinal:
vomiting
feeding difficulties
gastrointestinal reflux
bowel motility issues

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

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

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

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Genetic Tests for O'donnell-Luria-Rodan Syndrome

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Anatomical Context for O'donnell-Luria-Rodan Syndrome

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

⁴⁰

Eye, Brain, Skin

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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 ⁵⁶	O'Donnell-Luria AH...Rodan LH	31079897	2019

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Genes for O'donnell-Luria-Rodan Syndrome

Genes related to O'donnell-Luria-Rodan Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KMT2E	Lysine Methyltransferase 2E (Inactive)	Protein Coding	1218.38	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	31079897

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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

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

⁷³

#	Symbol	AA change	Variation 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

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Expression for O'donnell-Luria-Rodan Syndrome

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

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Pathways for O'donnell-Luria-Rodan Syndrome

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GO Terms for O'donnell-Luria-Rodan Syndrome

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

O'donnell-Luria-Rodan Syndrome (ODLURO)

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for O'donnell-Luria-Rodan Syndrome

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for O'donnell-Luria-Rodan Syndrome

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

Genes for O'donnell-Luria-Rodan Syndrome

Genes related to O'donnell-Luria-Rodan Syndrome (1 elite genes):

Variations for O'donnell-Luria-Rodan Syndrome

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

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

Expression 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