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 ⁷⁵ ⁶

Iddeca ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation

HPO:

³²

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 ⁵⁷ 618060

MedGen ⁴² CN252646

MeSH ⁴⁴ D065886

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

UniProtKB/Swiss-Prot : ⁷⁵ 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 nystagmus and intellectual disability

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...

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

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

³² (show all 13)

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

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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	900	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	29656859

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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	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		GRCh38	Chromosome 15, 60511241: 60511242
4	RORA	NM_134261.2(RORA): c.804_805delGT (p.Ser269Hisfs)	deletion	Pathogenic		GRCh37	Chromosome 15, 60803440: 60803441
5	RORA	NM_134261.2(RORA): c.1385G> A (p.Arg462Gln)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 15, 60792113: 60792113
6	RORA	NM_134261.2(RORA): c.1385G> A (p.Arg462Gln)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 15, 60499914: 60499914
7	RORA	NM_134261.2(RORA): c.275G> C (p.Gly92Ala)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 15, 60531773: 60531773
8	RORA	NM_134261.2(RORA): c.275G> C (p.Gly92Ala)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 15, 60823972: 60823972
9	RORA	NM_134261.2(RORA): c.281A> G (p.Lys94Arg)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 15, 60823966: 60823966
10	RORA	NM_134261.2(RORA): c.281A> G (p.Lys94Arg)	single nucleotide variant	Pathogenic		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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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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...

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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...

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...