IDDSSAD
MCID: INT347
MIFTS: 19

Intellectual Developmental Disorder with Severe Speech and Ambulation Defects (IDDSSAD)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Severe Speech and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

Name: Intellectual Developmental Disorder with Severe Speech and Ambulation Defects 56 73 29 6
Iddssad 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


HPO:

31
intellectual developmental disorder with severe speech and ambulation defects:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Intellectual Developmental Disorder with Severe Speech and...

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with severe speech and ambulation defects: An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis.

MalaCards based summary : Intellectual Developmental Disorder with Severe Speech and Ambulation Defects, is also known as iddssad. An important gene associated with Intellectual Developmental Disorder with Severe Speech and Ambulation Defects is ACTL6B (Actin Like 6B). Affiliated tissues include brain, and related phenotypes are infantile spasms and global developmental delay

OMIM : 56 Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by Bell et al., 2019). (618470)

Related Diseases for Intellectual Developmental Disorder with Severe Speech and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Severe Speech and...

Human phenotypes related to Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 infantile spasms 31 very rare (1%) HP:0012469
2 global developmental delay 31 HP:0001263
3 hypertelorism 31 HP:0000316
4 microcephaly 31 HP:0000252
5 prominent forehead 31 HP:0011220
6 absent speech 31 HP:0001344
7 wide mouth 31 HP:0000154
8 bulbous nose 31 HP:0000414
9 broad forehead 31 HP:0000337
10 short distal phalanx of finger 31 HP:0009882
11 broad-based gait 31 HP:0002136
12 hypoplasia of the corpus callosum 31 HP:0002079
13 generalized hypotonia 31 HP:0001290
14 small nail 31 HP:0001792
15 diastema 31 HP:0000699
16 global brain atrophy 31 HP:0002283

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
absent speech
wide-based gait
thin corpus callosum
generalized cerebral atrophy
more
Head And Neck Face:
prominent forehead
wide forehead

Head And Neck Nose:
bulbous nose

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
short distal phalanges

Head And Neck Head:
small head circumference

Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
wide mouth

Head And Neck Teeth:
diastema

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypies

Skin Nails Hair Nails:
small nails

Clinical features from OMIM:

618470

Drugs & Therapeutics for Intellectual Developmental Disorder with Severe Speech and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects

Genetic Tests for Intellectual Developmental Disorder with Severe Speech and...

Genetic tests related to Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Severe Speech and Ambulation Defects 29

Anatomical Context for Intellectual Developmental Disorder with Severe Speech and...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

40
Brain

Publications for Intellectual Developmental Disorder with Severe Speech and...

Articles related to Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

# Title Authors PMID Year
1
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. 56 6
31031012 2019

Variations for Intellectual Developmental Disorder with Severe Speech and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTL6B NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)SNV Pathogenic/Likely pathogenic 430804 rs1131692228 7:100244260-100244260 7:100646637-100646637
2 ACTL6B NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)SNV Uncertain significance 635107 rs1562851259 7:100253082-100253082 7:100655459-100655459

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

73
# Symbol AA change Variation ID SNP ID
1 ACTL6B p.Gly343Arg VAR_082134 rs113169222

Expression for Intellectual Developmental Disorder with Severe Speech and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects.

Pathways for Intellectual Developmental Disorder with Severe Speech and...

GO Terms for Intellectual Developmental Disorder with Severe Speech and...

Sources for Intellectual Developmental Disorder with Severe Speech and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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