IDDECA
MCID: INT327
MIFTS: 18

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 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:



External Ids:

OMIM 57 618060
MeSH 44 D065886

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

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:

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

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...

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
29656859 2018

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

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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