GDPAG
MCID: GLB026
MIFTS: 20

Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine (GDPAG)

Categories: Genetic diseases

Aliases & Classifications for Global Developmental Delay, Progressive Ataxia, and Elevated...

MalaCards integrated aliases for Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

Name: Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 57 72 29 6 17
Glutaminase Deficiency with Impaired Intellectual Development and Progressive Ataxia 57 72
Gdpag 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on a report of 3 unrelated patients (last curated april 2019)


HPO:

31
global developmental delay, progressive ataxia, and elevated glutamine:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Global Developmental Delay, Progressive Ataxia, and Elevated...

OMIM® : 57 Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. Three patients have been reported (summary by van Kuilenburg et al., 2019). (618412) (Updated 20-May-2021)

MalaCards based summary : Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine, also known as glutaminase deficiency with impaired intellectual development and progressive ataxia, is related to infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development. An important gene associated with Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine is GLS (Glutaminase). Affiliated tissues include brain and skin, and related phenotypes are global developmental delay and delayed speech and language development

UniProtKB/Swiss-Prot : 72 Global developmental delay, progressive ataxia, and elevated glutamine: An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels.

Related Diseases for Global Developmental Delay, Progressive Ataxia, and Elevated...

Diseases related to Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 10.9

Symptoms & Phenotypes for Global Developmental Delay, Progressive Ataxia, and Elevated...

Human phenotypes related to Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 delayed speech and language development 31 HP:0000750
3 delayed gross motor development 31 HP:0002194
4 progressive cerebellar ataxia 31 HP:0002073
5 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
febrile seizures
progressive ataxia
speech delay
gross motor delay
more
Laboratory Abnormalities:
normal ammonia
elevated glutamine
normal organic acids
normal orotic acid

Clinical features from OMIM®:

618412 (Updated 20-May-2021)

Drugs & Therapeutics for Global Developmental Delay, Progressive Ataxia, and Elevated...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine

Genetic Tests for Global Developmental Delay, Progressive Ataxia, and Elevated...

Genetic tests related to Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

# Genetic test Affiliating Genes
1 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 29 GLS

Anatomical Context for Global Developmental Delay, Progressive Ataxia, and Elevated...

MalaCards organs/tissues related to Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

40
Brain, Skin

Publications for Global Developmental Delay, Progressive Ataxia, and Elevated...

Articles related to Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

# Title Authors PMID Year
1
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. 57
30970188 2019

Variations for Global Developmental Delay, Progressive Ataxia, and Elevated...

ClinVar genetic disease variations for Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLS NM_014905.4(GLS):c.938C>T (p.Pro313Leu) SNV Pathogenic 626334 rs1558973667 GRCh37: 2:191769852-191769852
GRCh38: 2:190905126-190905126
2 GLS NM_014905.5(GLS):c.-212_-210GCA[680] Microsatellite Pathogenic 626335 GRCh37: 2:191745598-191745599
GRCh38: 2:190880872-190880873
3 GLS NM_014905.4(GLS):c.923dup (p.Tyr308Ter) Duplication Pathogenic 626336 rs1212883982 GRCh37: 2:191769836-191769837
GRCh38: 2:190905110-190905111

UniProtKB/Swiss-Prot genetic disease variations for Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine:

72
# Symbol AA change Variation ID SNP ID
1 GLS p.Pro313Leu VAR_081973 rs155897366

Expression for Global Developmental Delay, Progressive Ataxia, and Elevated...

Search GEO for disease gene expression data for Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine.

Pathways for Global Developmental Delay, Progressive Ataxia, and Elevated...

GO Terms for Global Developmental Delay, Progressive Ataxia, and Elevated...

Sources for Global Developmental Delay, Progressive Ataxia, and Elevated...

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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