IDDMSSD
MCID: INT331
MIFTS: 16

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

Categories: Genetic 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 58 76 6
Iddmssd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
intellectual developmental disorder with macrocephaly, seizures, and speech delay:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 seizures

Description from OMIM: 618158

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 very rare (1%) HP:0002007
2 seizures 33 very rare (1%) HP:0001250
3 gastroesophageal reflux 33 very rare (1%) HP:0002020
4 intellectual disability, severe 33 very rare (1%) HP:0010864
5 gait ataxia 33 very rare (1%) HP:0002066
6 motor delay 33 very rare (1%) HP:0001270
7 deeply set eye 33 very rare (1%) HP:0000490
8 long face 33 very rare (1%) HP:0000276
9 recurrent hypoglycemia 33 very rare (1%) HP:0001988
10 periventricular white matter hyperdensities 33 very rare (1%) HP:0030891
11 delayed myelination 33 very rare (1%) HP:0012448
12 receptive language delay 33 very rare (1%) HP:0010863
13 esodeviation 33 very rare (1%) HP:0020045
14 global developmental delay 33 HP:0001263
15 broad forehead 33 HP:0000337
16 unsteady gait 33 HP:0002317
17 poor speech 33 HP:0002465
18 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
broad forehead
long face

Head And Neck Eyes:
strabismus
deep-set eyes

Head And Neck Ears:
small ears

Neurologic Behavioral Psychiatric Manifestations:
friendly
inattentive
hyperactive

Neurologic Central Nervous System:
seizures
global developmental delay
unsteady gait
poor speech
impaired intellectual development, moderate
more
Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

618158

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:

42
Eye

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

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

# Title Authors Year
1
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. ( 30290153 )
2018

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

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

76
# Symbol AA change Variation ID SNP ID
1 PAK1 p.Tyr131Cys VAR_081554
2 PAK1 p.Tyr429Cys VAR_081555

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAK1 NM_001128620.1(PAK1): c.392A> G (p.Tyr131Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 77379288: 77379288
2 PAK1 NM_001128620.1(PAK1): c.392A> G (p.Tyr131Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 77090333: 77090333
3 PAK1 NM_001128620.1(PAK1): c.1286A> G (p.Tyr429Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 77336213: 77336213
4 PAK1 NM_001128620.1(PAK1): c.1286A> G (p.Tyr429Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 77047258: 77047258

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
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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46 MESH via Orphanet
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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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