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 ⁷³ ⁶

Iddeca ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 618060

MeSH ⁴⁴ 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 abnormal pyramidal sign and nystagmus

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 25)

#	Description	HPO Frequency	HPO Source Accession
1	abnormal pyramidal sign ³¹	very rare (1%)	HP:0007256
2	nystagmus ³¹	very rare (1%)	HP:0000639
3	ataxia ³¹	very rare (1%)	HP:0001251
4	tremor ³¹	very rare (1%)	HP:0001337
5	delayed speech and language development ³¹	very rare (1%)	HP:0000750
6	cryptorchidism ³¹	very rare (1%)	HP:0000028
7	hydronephrosis ³¹	very rare (1%)	HP:0000126
8	amblyopia ³¹	very rare (1%)	HP:0000646
9	spina bifida occulta ³¹	very rare (1%)	HP:0003298
10	cerebellar hypoplasia ³¹	very rare (1%)	HP:0001321
11	hypoplasia of the corpus callosum ³¹	very rare (1%)	HP:0002079
12	autistic behavior ³¹	very rare (1%)	HP:0000729
13	oculomotor apraxia ³¹	very rare (1%)	HP:0000657
14	generalized hypotonia ³¹	very rare (1%)	HP:0001290
15	hypermetropia ³¹	very rare (1%)	HP:0000540
16	esotropia ³¹	very rare (1%)	HP:0000565
17	incoordination ³¹	very rare (1%)	HP:0002311
18	pontocerebellar atrophy ³¹	very rare (1%)	HP:0006879
19	chronic constipation ³¹	very rare (1%)	HP:0012450
20	delayed ability to walk ³¹	very rare (1%)	HP:0031936
21	eyelid myoclonus ³¹	very rare (1%)	HP:0025097
22	borderline personality disorder ³¹	very rare (1%)	HP:0012076
23	seizure ³¹	very rare (1%)	HP:0001250
24	intellectual disability ³¹		HP:0001249
25	global developmental delay ³¹		HP:0001263

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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. ⁵⁷ ⁶	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	PubMed IDs
1	RORA	RAR Related Orphan Receptor A	Protein Coding	1244.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	29656859
2	RORA-AS1	RORA Antisense RNA 1	RNA Gene	9.32	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 (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RORA	NM_134261.3(RORA):c.1019del (p.Arg340fs)	Deletion	Pathogenic	374220	rs1057518981	15:60795790-60795790	15:60503591-60503591
2	RORA	NM_134261.3(RORA):c.802_803GT[1] (p.Ser269fs)	Microsatellite	Pathogenic	549841	rs1555423812	15:60803440-60803441	15:60511241-60511242
3	RORA	NM_134261.3(RORA):c.1385G>A (p.Arg462Gln)	SNV	Pathogenic	549842	rs1433850094	15:60792113-60792113	15:60499914-60499914
4	RORA	NM_134261.3(RORA):c.275G>C (p.Gly92Ala)	SNV	Pathogenic	549843	rs1555427498	15:60823972-60823972	15:60531773-60531773
5	RORA	NM_134261.3(RORA):c.281A>G (p.Lys94Arg)	SNV	Pathogenic	549844	rs1555427497	15:60823966-60823966	15:60531767-60531767
6	RORA	NM_134261.3(RORA):c.867_876dup (p.Glu293fs)	Duplication	Pathogenic	807672	rs1595874842	15:60797772-60797773	15:60505573-60505574
7	RORA	NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG	Indel	Likely pathogenic	636257	rs1595874995	15:60797822-60797845	15:60505623-60505646
8	RORA	NM_134261.3(RORA):c.386G>A (p.Arg129Gln)	SNV	Likely pathogenic	803100	rs1595889010	15:60806853-60806853	15:60514654-60514654
9	RORA	NM_134261.3(RORA):c.17C>T (p.Ala6Val)	SNV	Uncertain significance	638529	rs1596088862	15:61521401-61521401	15:61229202-61229202
10	RORA	NM_134261.3(RORA):c.802G>A (p.Val268Met)	SNV	Uncertain significance	932229	rs771655652	15:60803443-60803443	15:60511244-60511244
11	RORA	NM_134261.3(RORA):c.1447C>T (p.Arg483Ter)	SNV	Uncertain significance	982776		15:60789779-60789779	15:60497580-60497580
12	RORA	NM_134261.3(RORA):c.196+51424G>A	SNV	Likely benign	781175	rs73424068	15:60919432-60919432	15:60627233-60627233

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

² BitterDB

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⁵ ClinicalTrials

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²⁰ GARD

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

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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...