IDDPADS
MCID: INT392
MIFTS: 15

Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures (IDDPADS)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

MalaCards integrated aliases for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:

Name: Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures 57 6
Iddpads 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
slowly progressive
onset in early childhood
dystonic episodes occur multiple times a day
episodes may be triggered by stress or stimuli


Classifications:



External Ids:

OMIM® 57 619150

Summaries for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

OMIM® : 57 Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by Doummar et al., 2020). (619150) (Updated 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures, is also known as iddpads. An important gene associated with Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures is PDE2A (Phosphodiesterase 2A). Affiliated tissues include eye.

Related Diseases for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
chorea
global developmental delay
dyskinesia
dystonia
frequent falls
more
Head And Neck Face:
facial grimacing, episodic
dysmorphic facial features, mild (1 family)

Head And Neck Mouth:
orolingual dystonic movements, episodic

Prenatal Manifestations:
intrahepatic portosystemic shunt (1 family)

Head And Neck Head:
head deviation, episodic

Head And Neck Eyes:
eye deviation, episodic
blinking, episodic

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities (1 patient)

Clinical features from OMIM®:

619150 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures

Genetic Tests for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Anatomical Context for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:

40
Eye

Publications for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Articles related to Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:

# Title Authors PMID Year
1
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. 6 57
32467598 2020
2
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome. 6 57
32196122 2020
3
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. 57 6
29392776 2018

Variations for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE2A NM_002599.5(PDE2A):c.1439A>G (p.Asp480Gly) SNV Pathogenic 995828 11:72295693-72295693 11:72584649-72584649
2 PDE2A NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter) SNV Pathogenic 689477 rs1591023585 11:72297116-72297116 11:72586072-72586072
3 PDE2A NM_002599.5(PDE2A):c.1922+5G>A SNV Pathogenic 995830 11:72292916-72292916 11:72581872-72581872
4 PDE2A NM_002599.5(PDE2A):c.446C>T (p.Pro149Leu) SNV Pathogenic 995831 11:72307680-72307680 11:72596636-72596636
5 PDE2A NM_002599.5(PDE2A):c.323+1G>A SNV Pathogenic 995832 11:72316181-72316181 11:72605137-72605137

Expression for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures.

Pathways for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

GO Terms for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

Sources for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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