Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Intellectual Developmental Disorder with or Without Epilepsy or...

MalaCards integrated aliases for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

Name: Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia ⁵⁶ ⁷³ ⁶

Iddeca ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation

HPO:

³¹

intellectual developmental disorder with or without epilepsy or cerebellar ataxia:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618060

MeSH ⁴³ D065886

MedGen ⁴¹ C4748041 CN252646

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Summaries for Intellectual Developmental Disorder with or Without Epilepsy or...

UniProtKB/Swiss-Prot : ⁷³ Intellectual developmental disorder with or without epilepsy or cerebellar ataxia: An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy.

MalaCards based summary : Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia, is also known as iddeca. An important gene associated with Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia is RORA (RAR Related Orphan Receptor A). Related phenotypes are cerebellar hypoplasia and pontocerebellar atrophy

More information from OMIM: 618060

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Related Diseases for Intellectual Developmental Disorder with or Without Epilepsy or...

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Symptoms & Phenotypes for Intellectual Developmental Disorder with or Without Epilepsy or...

Human phenotypes related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

³¹ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	cerebellar hypoplasia ³¹	very rare (1%)	HP:0001321
2	pontocerebellar atrophy ³¹	very rare (1%)	HP:0006879
3	intellectual disability ³¹		HP:0001249
4	global developmental delay ³¹		HP:0001263
5	delayed speech and language development ³¹		HP:0000750
6	ataxia ³¹		HP:0001251
7	nystagmus ³¹		HP:0000639
8	tremor ³¹		HP:0001337
9	motor delay ³¹		HP:0001270
10	autistic behavior ³¹		HP:0000729
11	oculomotor apraxia ³¹		HP:0000657
12	generalized hypotonia ³¹		HP:0001290
13	esotropia ³¹		HP:0000565
14	incoordination ³¹		HP:0002311
15	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
ataxia
tremor
motor delay
incoordination
developmental delay
more

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus
strabismus
oculomotor apraxia
esotropia

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder

Clinical features from OMIM:

618060

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Drugs & Therapeutics for Intellectual Developmental Disorder with or Without Epilepsy or...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia

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Genetic Tests for Intellectual Developmental Disorder with or Without Epilepsy or...

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Anatomical Context for Intellectual Developmental Disorder with or Without Epilepsy or...

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Publications for Intellectual Developmental Disorder with or Without Epilepsy or...

Articles related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

#	Title	Authors	PMID	Year
1	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ⁶ ⁵⁶	Guissart C...Kury S	29656859	2018

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Genes for Intellectual Developmental Disorder with or Without Epilepsy or...

Genes related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RORA	RAR Related Orphan Receptor A	Protein Coding	1219.16	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	29656859
2	RORA-AS1	RORA Antisense RNA 1	RNA Gene	8.95	GeneCards inferred via : Variants (show sections)

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Variations for Intellectual Developmental Disorder with or Without Epilepsy or...

ClinVar genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RORA	NM_134261.3(RORA):c.802_803GT[1] (p.Ser269fs)	short repeat	Pathogenic	549841	rs1555423812	15:60803440-60803441	15:60511241-60511242
2	RORA	NM_134261.3(RORA):c.1385G>A (p.Arg462Gln)	SNV	Pathogenic	549842	rs1433850094	15:60792113-60792113	15:60499914-60499914
3	RORA	NM_134261.3(RORA):c.275G>C (p.Gly92Ala)	SNV	Pathogenic	549843	rs1555427498	15:60823972-60823972	15:60531773-60531773
4	RORA	NM_134261.3(RORA):c.281A>G (p.Lys94Arg)	SNV	Pathogenic	549844	rs1555427497	15:60823966-60823966	15:60531767-60531767
5	RORA	NM_134261.3(RORA):c.867_876dup (p.Glu293fs)	duplication	Pathogenic	807672		15:60797772-60797773	15:60505573-60505574
6	RORA	NM_134261.3(RORA):c.1019del (p.Arg340fs)	deletion	Pathogenic/Likely pathogenic	374220	rs1057518981	15:60795790-60795790	15:60503591-60503591
7	RORA	NM_134261.3(RORA):c.386G>A (p.Arg129Gln)	SNV	Likely pathogenic	803100		15:60806853-60806853	15:60514654-60514654
8	RORA	NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG	indel	Likely pathogenic	636257		15:60797822-60797845	15:60505623-60505646
9	RORA	NM_134261.3(RORA):c.17C>T (p.Ala6Val)	SNV	Uncertain significance	638529		15:61521401-61521401	15:61229202-61229202

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RORA	p.Gly92Ala	VAR_081090	rs155542749
2	RORA	p.Lys94Arg	VAR_081091	rs155542749
3	RORA	p.Ser409Arg	VAR_081092
4	RORA	p.Arg462Gln	VAR_081093	rs143385009

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Expression for Intellectual Developmental Disorder with or Without Epilepsy or...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia.

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Pathways for Intellectual Developmental Disorder with or Without Epilepsy or...

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GO Terms for Intellectual Developmental Disorder with or Without Epilepsy or...

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Sources for Intellectual Developmental Disorder with or Without Epilepsy or...

¹ BioSystems

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⁹ Cosmic

¹⁰ dbSNP

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

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⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia (IDDECA)

Aliases & Classifications for Intellectual Developmental Disorder with or Without Epilepsy or...

MalaCards integrated aliases for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Intellectual Developmental Disorder with or Without Epilepsy or...

Related Diseases for Intellectual Developmental Disorder with or Without Epilepsy or...

Symptoms & Phenotypes for Intellectual Developmental Disorder with or Without Epilepsy or...

Human phenotypes related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Intellectual Developmental Disorder with or Without Epilepsy or...

Genetic Tests for Intellectual Developmental Disorder with or Without Epilepsy or...

Anatomical Context for Intellectual Developmental Disorder with or Without Epilepsy or...

Publications for Intellectual Developmental Disorder with or Without Epilepsy or...

Articles related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

Genes for Intellectual Developmental Disorder with or Without Epilepsy or...

Genes related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia (1 elite genes):

Variations for Intellectual Developmental Disorder with or Without Epilepsy or...

ClinVar genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

Expression for Intellectual Developmental Disorder with or Without Epilepsy or...

Pathways for Intellectual Developmental Disorder with or Without Epilepsy or...

GO Terms for Intellectual Developmental Disorder with or Without Epilepsy or...

Sources for Intellectual Developmental Disorder with or Without Epilepsy or...