GDPAG
MCID: GLB026
MIFTS: 12

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

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 58 6
Glutaminase Deficiency with Impaired Intellectual Development and Progressive Ataxia 58
Gdpag 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


External Ids:

OMIM 58 618412

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

OMIM : 58 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)

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 diamond-blackfan anemia 19 and 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.

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 diamond-blackfan anemia 19 11.8
2 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 11.1

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
febrile seizures
progressive ataxia
speech delay
gross motor delay
more
Laboratory Abnormalities:
elevated glutamine
normal ammonia
normal organic acids
normal orotic acid

Clinical features from OMIM:

618412

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...

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

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

42
Brain, Skin

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLS NM_014905.4(GLS): c.938C> T (p.Pro313Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 191769852: 191769852
2 GLS NM_014905.4(GLS): c.938C> T (p.Pro313Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 190905126: 190905126
3 GLS NM_014905.4(GLS): c.-212_-210GCA[680] NT expansion Pathogenic GRCh37 Chromosome 2, 191745599: 191745601
4 GLS NM_014905.4(GLS): c.-212_-210GCA[680] NT expansion Pathogenic GRCh38 Chromosome 2, 190880873: 190880875
5 GLS NM_014905.4(GLS): c.923dup (p.Tyr308Terfs) duplication Pathogenic GRCh37 Chromosome 2, 191769837: 191769837
6 GLS NM_014905.4(GLS): c.923dup (p.Tyr308Terfs) duplication Pathogenic GRCh38 Chromosome 2, 190905111: 190905111

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...

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75 UMLS via Orphanet
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