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 ⁵⁸ ⁷⁶ ⁶

Iddeca ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation

HPO:

³³

intellectual developmental disorder with or without epilepsy or cerebellar ataxia:
Onset and clinical course phenotypic variability

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618060

MeSH ⁴⁵ D065886

MedGen ⁴³ CN252646

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

UniProtKB/Swiss-Prot : ⁷⁶ 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

Description 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:

³³ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	cerebellar hypoplasia ³³	very rare (1%)	HP:0001321
2	pontocerebellar atrophy ³³	very rare (1%)	HP:0006879
3	nystagmus ³³		HP:0000639
4	intellectual disability ³³		HP:0001249
5	seizures ³³		HP:0001250
6	ataxia ³³		HP:0001251
7	tremor ³³		HP:0001337
8	global developmental delay ³³		HP:0001263
9	delayed speech and language development ³³		HP:0000750
10	motor delay ³³		HP:0001270
11	oculomotor apraxia ³³		HP:0000657
12	incoordination ³³		HP:0002311
13	esotropia ³³		HP:0000565

Symptoms via clinical synopsis from OMIM:

⁵⁸

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...

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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	1229.31	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	29656859
2	RORA-AS1	RORA Antisense RNA 1	RNA Gene	8.93	GeneCards inferred via : Variants (show sections)

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

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

⁷⁶

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

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RORA	NM_134260.2(RORA): c.1118delG (p.Arg373Profs)	deletion	Pathogenic/Likely pathogenic	rs1057518981	GRCh37	Chromosome 15, 60795790: 60795790
2	RORA	NM_134260.2(RORA): c.1118delG (p.Arg373Profs)	deletion	Pathogenic/Likely pathogenic	rs1057518981	GRCh38	Chromosome 15, 60503591: 60503591
3	RORA	NM_134261.2(RORA): c.804_805delGT (p.Ser269Hisfs)	deletion	Pathogenic	rs1555423812	GRCh38	Chromosome 15, 60511241: 60511242
4	RORA	NM_134261.2(RORA): c.804_805delGT (p.Ser269Hisfs)	deletion	Pathogenic	rs1555423812	GRCh37	Chromosome 15, 60803440: 60803441
5	RORA	NM_134261.2(RORA): c.1385G> A (p.Arg462Gln)	single nucleotide variant	Pathogenic	rs1433850094	GRCh37	Chromosome 15, 60792113: 60792113
6	RORA	NM_134261.2(RORA): c.1385G> A (p.Arg462Gln)	single nucleotide variant	Pathogenic	rs1433850094	GRCh38	Chromosome 15, 60499914: 60499914
7	RORA	NM_134261.2(RORA): c.275G> C (p.Gly92Ala)	single nucleotide variant	Pathogenic	rs1555427498	GRCh38	Chromosome 15, 60531773: 60531773
8	RORA	NM_134261.2(RORA): c.275G> C (p.Gly92Ala)	single nucleotide variant	Pathogenic	rs1555427498	GRCh37	Chromosome 15, 60823972: 60823972
9	RORA	NM_134261.2(RORA): c.281A> G (p.Lys94Arg)	single nucleotide variant	Pathogenic	rs1555427497	GRCh37	Chromosome 15, 60823966: 60823966
10	RORA	NM_134261.2(RORA): c.281A> G (p.Lys94Arg)	single nucleotide variant	Pathogenic	rs1555427497	GRCh38	Chromosome 15, 60531767: 60531767

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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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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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...

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...

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

ClinVar 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...