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 ⁵⁷ ⁷⁴ ⁶

Iddeca ⁵⁷ ⁷⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation

HPO:

³²

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 ⁵⁷ 618060

MeSH ⁴⁴ D065886

MedGen ⁴² C4748041 CN252646

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

UniProtKB/Swiss-Prot : ⁷⁴ 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:

³² (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	cerebellar hypoplasia ³²	very rare (1%)	HP:0001321
2	pontocerebellar atrophy ³²	very rare (1%)	HP:0006879
3	nystagmus ³²		HP:0000639
4	intellectual disability ³²		HP:0001249
5	seizures ³²		HP:0001250
6	ataxia ³²		HP:0001251
7	tremor ³²		HP:0001337
8	global developmental delay ³²		HP:0001263
9	delayed speech and language development ³²		HP:0000750
10	generalized hypotonia ³²		HP:0001290
11	motor delay ³²		HP:0001270
12	oculomotor apraxia ³²		HP:0000657
13	autistic behavior ³²		HP:0000729
14	incoordination ³²		HP:0002311
15	esotropia ³²		HP:0000565

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
strabismus
oculomotor apraxia
esotropia

Muscle Soft Tissue:
hypotonia

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

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. ⁸ ⁷¹	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	1229.22	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁴ GeneCards inferred via : Disorders Variants (show sections)	29656859
2	RORA-AS1	RORA Antisense RNA 1	RNA Gene	8.87	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	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	RORA	NM_134261.3(RORA): c.802_803GT[1] (p.Ser269fs)	short repeat	Pathogenic	rs1555423812	15:60803440-60803441	15:60511241-60511242
2	RORA	NM_134261.3(RORA): c.1385G> A (p.Arg462Gln)	single nucleotide variant	Pathogenic	rs1433850094	15:60792113-60792113	15:60499914-60499914
3	RORA	NM_134261.3(RORA): c.275G> C (p.Gly92Ala)	single nucleotide variant	Pathogenic	rs1555427498	15:60823972-60823972	15:60531773-60531773
4	RORA	NM_134261.3(RORA): c.281A> G (p.Lys94Arg)	single nucleotide variant	Pathogenic	rs1555427497	15:60823966-60823966	15:60531767-60531767
5	RORA	NM_134261.3(RORA): c.1019del (p.Arg340fs)	deletion	Pathogenic/Likely pathogenic	rs1057518981	15:60795790-60795790	15:60503591-60503591
6	RORA	NM_134261.3(RORA): c.821-17_827delinsGCTTTCGTGTTTG	indel	Likely pathogenic		15:60797822-60797845	15:60505623-60505646
7	RORA	NM_134261.3(RORA): c.17C> T (p.Ala6Val)	single nucleotide variant	Uncertain significance		15:61521401-61521401	15:61229202-61229202

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

⁷⁴

#	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...

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⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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...