GDDI
MCID: GLB025
MIFTS: 17

Global Developmental Delay with or Without Impaired Intellectual Development (GDDI)

Categories: Genetic diseases

Aliases & Classifications for Global Developmental Delay with or Without Impaired Intellectual...

MalaCards integrated aliases for Global Developmental Delay with or Without Impaired Intellectual Development:

Name: Global Developmental Delay with or Without Impaired Intellectual Development 57 72 6 17
Gddi 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)
two sibs who inherited cux1 mutation from mildly affected mother have been described (last curated february 2019)


HPO:

31
global developmental delay with or without impaired intellectual development:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618330
MeSH 44 D065886

Summaries for Global Developmental Delay with or Without Impaired Intellectual...

UniProtKB/Swiss-Prot : 72 Global developmental delay with or without impaired intellectual development: An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients.

MalaCards based summary : Global Developmental Delay with or Without Impaired Intellectual Development, is also known as gddi. An important gene associated with Global Developmental Delay with or Without Impaired Intellectual Development is CUX1 (Cut Like Homeobox 1). Related phenotypes are intellectual disability and short stature

More information from OMIM: 618330

Related Diseases for Global Developmental Delay with or Without Impaired Intellectual...

Symptoms & Phenotypes for Global Developmental Delay with or Without Impaired Intellectual...

Human phenotypes related to Global Developmental Delay with or Without Impaired Intellectual Development:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 short stature 31 very rare (1%) HP:0004322
3 generalized hypotonia 31 very rare (1%) HP:0001290
4 global developmental delay 31 HP:0001263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
hypotonia (in some patients)
intellectual disability, mild to moderate (in some patients)

Growth Weight:
short stature (in some patients)

Clinical features from OMIM®:

618330 (Updated 05-Apr-2021)

Drugs & Therapeutics for Global Developmental Delay with or Without Impaired Intellectual...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay with or Without Impaired Intellectual Development

Genetic Tests for Global Developmental Delay with or Without Impaired Intellectual...

Anatomical Context for Global Developmental Delay with or Without Impaired Intellectual...

Publications for Global Developmental Delay with or Without Impaired Intellectual...

Articles related to Global Developmental Delay with or Without Impaired Intellectual Development:

# Title Authors PMID Year
1
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development. 57 6
30014507 2018
2
Development of the FMO/RI-MP2 Fully Analytic Gradient Using a Hybrid-Distributed/Shared Memory Programming Model. 61
31899632 2020
3
Hybrid Distributed/Shared Memory Model for the RI-MP2 Method in the Fragment Molecular Orbital Framework. 61
31509402 2019
4
Global dust Detection Index (GDDI); a new remotely sensed methodology for dust storms detection. 61
24406015 2014
5
Efficient parallel implementations of QM/MM-REMD (quantum mechanical/molecular mechanics-replica-exchange MD) and umbrella sampling: isomerization of H2O2 in aqueous solution. 61
23758321 2013
6
A new hierarchical parallelization scheme: generalized distributed data interface (GDDI), and an application to the fragment molecular orbital method (FMO). 61
15011259 2004

Variations for Global Developmental Delay with or Without Impaired Intellectual...

ClinVar genetic disease variations for Global Developmental Delay with or Without Impaired Intellectual Development:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CUX1 NC_000007.13:g.(101759560_?)_(?_101893297)del Deletion Pathogenic 618994 GRCh37: 7:101759560-101893297
GRCh38:
2 CUX1 NM_181552.4(CUX1):c.3781C>T (p.Arg1261Ter) SNV Pathogenic 1027903 GRCh37: 7:101882758-101882758
GRCh38: 7:102239478-102239478
3 CUX1 NM_181552.4(CUX1):c.2365del (p.Gln789fs) Deletion Likely pathogenic 618990 rs1554519798 GRCh37: 7:101844940-101844940
GRCh38: 7:102201660-102201660
4 CUX1 NM_181552.4(CUX1):c.2584C>T (p.Gln862Ter) SNV Likely pathogenic 618991 rs1563398977 GRCh37: 7:101845161-101845161
GRCh38: 7:102201881-102201881
5 CUX1 NM_181552.4(CUX1):c.3164dup (p.Ala1056fs) Duplication Likely pathogenic 618992 rs1563446668 GRCh37: 7:101870677-101870678
GRCh38: 7:102227397-102227398
6 CUX1 NM_181552.4(CUX1):c.3750_3751dup (p.Leu1251fs) Duplication Likely pathogenic 618993 rs1563470335 GRCh37: 7:101882726-101882727
GRCh38: 7:102239446-102239447
7 CUX1 NM_001913.5(CUX1):c.61C>T (p.Gln21Ter) SNV Likely pathogenic 618995 rs1562875556 GRCh37: 7:101459371-101459371
GRCh38: 7:101816091-101816091
8 CUX1 NM_181552.4(CUX1):c.2570G>A (p.Ser857Asn) SNV Uncertain significance 1027901 GRCh37: 7:101845147-101845147
GRCh38: 7:102201867-102201867
9 CUX1 NM_181552.4(CUX1):c.275T>C (p.Val92Ala) SNV Uncertain significance 1027902 GRCh37: 7:101740650-101740650
GRCh38: 7:102097370-102097370
10 CUX1 NM_001913.5(CUX1):c.1825C>T (p.Arg609Cys) SNV Uncertain significance 1030297 GRCh37: 7:101925135-101925135
GRCh38: 7:102281843-102281843
11 CUX1 NM_001913.5(CUX1):c.1764+1G>A SNV Uncertain significance 873436 GRCh37: 7:101923413-101923413
GRCh38: 7:102280121-102280121
12 CUX1 NM_001913.5(CUX1):c.63+1G>A SNV Uncertain significance 977603 GRCh37: 7:101459374-101459374
GRCh38: 7:101816094-101816094

Expression for Global Developmental Delay with or Without Impaired Intellectual...

Search GEO for disease gene expression data for Global Developmental Delay with or Without Impaired Intellectual Development.

Pathways for Global Developmental Delay with or Without Impaired Intellectual...

GO Terms for Global Developmental Delay with or Without Impaired Intellectual...

Sources for Global Developmental Delay with or Without Impaired Intellectual...

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