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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618512

MeSH ⁴⁴ D065886

MedGen ⁴¹ C5193138 CN261160

EFO ¹⁷ EFO_0010277

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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.

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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

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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	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)

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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

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

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

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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

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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 ⁵⁷	O'Donnell-Luria AH...Rodan LH	31079897	2019
2	ODLURO syndrome: personal experience and review of the literature. ⁶¹	Conforti R...Caranci F	32691224	2021

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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	PubMed IDs
1	KMT2E	Lysine Methyltransferase 2E (Inactive)	Protein Coding	1343.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ 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.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
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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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

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

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

Genetic tests related to 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