MCID: GLY103
MIFTS: 18

Glycosylphosphatidylinositol Biosynthesis Defect 15

Categories: Genetic diseases, Bone diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 15

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 15:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 15 57 75 6
Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 57 75
Gpibd15 57 75
Glycosylphosphatidylinositol Biosynthesis Defect, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
onset of seizures in first years of life
seizures are only partially responsive to medication
some patients may be able to attend school with help


Classifications:



External Ids:

OMIM 57 617810
MedGen 42 CN698605

Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 15

OMIM : 57 GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (617810)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 15, also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia, is related to epilepsy. An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 15 is GPAA1 (Glycosylphosphatidylinositol Anchor Attachment 1).

UniProtKB/Swiss-Prot : 75 Glycosylphosphatidylinositol biosynthesis defect 15: An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria.

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 15

Diseases in the Glycosylphosphatidylinositol Biosynthesis Defect 11 family:

Glycosylphosphatidylinositol Biosynthesis Defect 15 Glycosylphosphatidylinositol Biosynthesis Defect 16

Diseases related to Glycosylphosphatidylinositol Biosynthesis Defect 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.1

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 15

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
myopia
optic atrophy (rare)
visual impairment (rare)
ocular apraxia

Neurologic Central Nervous System:
spasticity
dysarthria
tremor
hyperreflexia
gait ataxia
more
Head And Neck Face:
prominent forehead
bitemporal narrowing
dysmorphic facial features, mild (in some patients)

Laboratory Abnormalities:
normal alkaline phosphatase

Skeletal:
osteopenia
osteoporosis

Head And Neck Nose:
anteverted nares
broad nasal root

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617810

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 15

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 15

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 15

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 15

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 15

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

# Title Authors Year
1
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. ( 29100095 )
2017

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 15

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 15:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPAA1 NM_003801.3(GPAA1): c.872T> C (p.Leu291Pro) single nucleotide variant Pathogenic rs1010907740 GRCh37 Chromosome 8, 145139374: 145139374
2 GPAA1 NM_003801.3(GPAA1): c.872T> C (p.Leu291Pro) single nucleotide variant Pathogenic rs1010907740 GRCh38 Chromosome 8, 144084471: 144084471
3 GPAA1 NM_003801.3(GPAA1): c.981_993delGTACAAGTATGAC (p.Gln327Hisfs) deletion Pathogenic GRCh38 Chromosome 8, 144084580: 144084592
4 GPAA1 NM_003801.3(GPAA1): c.981_993delGTACAAGTATGAC (p.Gln327Hisfs) deletion Pathogenic GRCh37 Chromosome 8, 145139483: 145139495
5 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic GRCh38 Chromosome 8, 144084519: 144084519
6 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic GRCh37 Chromosome 8, 145139422: 145139422
7 GPAA1 NM_003801.3(GPAA1): c.1165G> C (p.Ala389Pro) single nucleotide variant Pathogenic rs782768127 GRCh38 Chromosome 8, 144085043: 144085043
8 GPAA1 NM_003801.3(GPAA1): c.1165G> C (p.Ala389Pro) single nucleotide variant Pathogenic rs782768127 GRCh37 Chromosome 8, 145139946: 145139946
9 GPAA1 NM_003801.3(GPAA1): c.527G> C (p.Trp176Ser) single nucleotide variant Pathogenic rs782220208 GRCh38 Chromosome 8, 144083951: 144083951
10 GPAA1 NM_003801.3(GPAA1): c.527G> C (p.Trp176Ser) single nucleotide variant Pathogenic rs782220208 GRCh37 Chromosome 8, 145138854: 145138854
11 GPAA1 NM_003801.3(GPAA1): c.160_161delGCinsAA (p.Ala54Asn) indel Pathogenic GRCh38 Chromosome 8, 144083209: 144083210
12 GPAA1 NM_003801.3(GPAA1): c.160_161delGCinsAA (p.Ala54Asn) indel Pathogenic GRCh37 Chromosome 8, 145138112: 145138113
13 GPAA1 NM_003801.3(GPAA1): c.869T> C (p.Leu290Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 144084468: 144084468
14 GPAA1 NM_003801.3(GPAA1): c.869T> C (p.Leu290Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 145139371: 145139371

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 15

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 15.

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 15

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 15

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 15

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69 SNOMED-CT via HPO
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