IDDECA
MCID: INT327
MIFTS: 17

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

Categories: Genetic diseases

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:



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

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:

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

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

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...

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

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.

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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