IDDMSSD
MCID: INT331
MIFTS: 20

Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

MalaCards integrated aliases for Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay:

Name: Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 57 72 6 17
Iddmssd 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
two unrelated patients have been reported (last curated october 2018)


HPO:

31
intellectual developmental disorder with macrocephaly, seizures, and speech delay:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with macrocephaly, seizures, and speech delay: An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures.

MalaCards based summary : Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay, is also known as iddmssd. An important gene associated with Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay is PAK1 (P21 (RAC1) Activated Kinase 1). Affiliated tissues include eye, and related phenotypes are frontal bossing and gastroesophageal reflux

OMIM® : 57 IDDMSSD is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures (Harms et al., 2018). (618158) (Updated 20-May-2021)

Related Diseases for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Human phenotypes related to Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 gastroesophageal reflux 31 very rare (1%) HP:0002020
3 intellectual disability, severe 31 very rare (1%) HP:0010864
4 motor delay 31 very rare (1%) HP:0001270
5 long face 31 very rare (1%) HP:0000276
6 deeply set eye 31 very rare (1%) HP:0000490
7 gait ataxia 31 very rare (1%) HP:0002066
8 recurrent hypoglycemia 31 very rare (1%) HP:0001988
9 delayed myelination 31 very rare (1%) HP:0012448
10 periventricular white matter hyperdensities 31 very rare (1%) HP:0030891
11 receptive language delay 31 very rare (1%) HP:0010863
12 esodeviation 31 very rare (1%) HP:0020045
13 seizure 31 very rare (1%) HP:0001250
14 global developmental delay 31 HP:0001263
15 microtia 31 HP:0008551
16 broad forehead 31 HP:0000337
17 generalized hypotonia 31 HP:0001290
18 unsteady gait 31 HP:0002317
19 poor speech 31 HP:0002465
20 postnatal macrocephaly 31 HP:0005490
21 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
unsteady gait
poor speech
impaired intellectual development, moderate
more
Head And Neck Eyes:
strabismus
deep-set eyes

Head And Neck Ears:
small ears

Neurologic Behavioral Psychiatric Manifestations:
friendly
inattentive
hyperactive

Head And Neck Face:
frontal bossing
long face
broad forehead

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
macrocephaly, postnatal (up to +4 sd)

Clinical features from OMIM®:

618158 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay

Genetic Tests for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Anatomical Context for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay:

40
Eye

Publications for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Articles related to Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay:

# Title Authors PMID Year
1
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. 6 57
30290153 2018
2
p21-Activated kinases 1 and 3 control brain size through coordinating neuronal complexity and synaptic properties. 57
21115725 2011

Variations for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAK1 NM_002576.4(PAK1):c.392A>G (p.Tyr131Cys) SNV Likely pathogenic 587370 rs1565638316 GRCh37: 11:77090333-77090333
GRCh38: 11:77379288-77379288
2 PAK1 NM_002576.4(PAK1):c.1286A>G (p.Tyr429Cys) SNV Likely pathogenic 587371 rs1565583382 GRCh37: 11:77047258-77047258
GRCh38: 11:77336213-77336213
3 PAK1 NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) SNV Likely pathogenic 807646 rs1591695781 GRCh37: 11:77043899-77043899
GRCh38: 11:77332854-77332854
4 PAK1 NM_002576.5(PAK1):c.1483C>G (p.Arg495Gly) SNV Uncertain significance 976263 GRCh37: 11:77043843-77043843
GRCh38: 11:77332798-77332798
5 PAK1 NM_002576.5(PAK1):c.1409T>G (p.Leu470Arg) SNV Uncertain significance 982892 GRCh37: 11:77047135-77047135
GRCh38: 11:77336090-77336090

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay:

72
# Symbol AA change Variation ID SNP ID
1 PAK1 p.Tyr131Cys VAR_081554 rs156563831
2 PAK1 p.Tyr429Cys VAR_081555 rs156558338

Expression for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay.

Pathways for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

GO Terms for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

Sources for Intellectual Developmental Disorder with Macrocephaly, Seizures,...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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