GPIBD15
MCID: GLY103
MIFTS: 22

Glycosylphosphatidylinositol Biosynthesis Defect 15 (GPIBD15)

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

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 15

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 15:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 15 58 76 6
Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 58 76
Gpibd15 58 76
Glycosylphosphatidylinositol Biosynthesis Defect, Type 15 41

Characteristics:

OMIM:

58
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


HPO:

33
glycosylphosphatidylinositol biosynthesis defect 15:
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 15

OMIM : 58 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). Related phenotypes are abnormal facial shape and visual impairment

UniProtKB/Swiss-Prot : 76 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
Glycosylphosphatidylinositol Biosynthesis Defect 17 Glycosylphosphatidylinositol Biosynthesis Defect 18

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 10.2

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 15

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 very rare (1%) HP:0001999
2 visual impairment 33 very rare (1%) HP:0000505
3 optic atrophy 33 very rare (1%) HP:0000648
4 nystagmus 33 HP:0000639
5 osteopenia 33 HP:0000938
6 intellectual disability 33 HP:0001249
7 seizures 33 HP:0001250
8 spasticity 33 HP:0001257
9 dysarthria 33 HP:0001260
10 tremor 33 HP:0001337
11 hyperreflexia 33 HP:0001347
12 eeg abnormality 33 HP:0002353
13 global developmental delay 33 HP:0001263
14 wide nasal bridge 33 HP:0000431
15 delayed speech and language development 33 HP:0000750
16 anteverted nares 33 HP:0000463
17 osteoporosis 33 HP:0000939
18 prominent forehead 33 HP:0011220
19 myopia 33 HP:0000545
20 gait ataxia 33 HP:0002066
21 dysmetria 33 HP:0001310
22 inability to walk 33 HP:0002540
23 cerebellar hypoplasia 33 HP:0001321
24 apraxia 33 HP:0002186
25 cerebellar atrophy 33 HP:0001272
26 poor speech 33 HP:0002465
27 narrow forehead 33 HP:0000341

Symptoms via clinical synopsis from OMIM:

58
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

UniProtKB/Swiss-Prot genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 15:

76
# Symbol AA change Variation ID SNP ID
1 GPAA1 p.Ser51Leu VAR_080543
2 GPAA1 p.Trp176Ser VAR_080545 rs782220208
3 GPAA1 p.Leu290Pro VAR_080546
4 GPAA1 p.Leu291Pro VAR_080547 rs101090774
5 GPAA1 p.Ala389Pro VAR_080548

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 15:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPAA1 NM_003801.4(GPAA1): c.872T> C (p.Leu291Pro) single nucleotide variant Likely pathogenic rs1010907740 GRCh37 Chromosome 8, 145139374: 145139374
2 GPAA1 NM_003801.4(GPAA1): c.872T> C (p.Leu291Pro) single nucleotide variant Likely pathogenic rs1010907740 GRCh38 Chromosome 8, 144084471: 144084471
3 GPAA1 NM_003801.3(GPAA1): c.981_993delGTACAAGTATGAC (p.Gln327Hisfs) deletion Pathogenic rs1554764080 GRCh38 Chromosome 8, 144084580: 144084592
4 GPAA1 NM_003801.3(GPAA1): c.981_993delGTACAAGTATGAC (p.Gln327Hisfs) deletion Pathogenic rs1554764080 GRCh37 Chromosome 8, 145139483: 145139495
5 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic rs1554764067 GRCh38 Chromosome 8, 144084519: 144084519
6 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic rs1554764067 GRCh37 Chromosome 8, 145139422: 145139422
7 GPAA1 NM_003801.4(GPAA1): c.1165G> C (p.Ala389Pro) single nucleotide variant Likely pathogenic rs782768127 GRCh38 Chromosome 8, 144085043: 144085043
8 GPAA1 NM_003801.4(GPAA1): c.1165G> C (p.Ala389Pro) single nucleotide variant Likely pathogenic rs782768127 GRCh37 Chromosome 8, 145139946: 145139946
9 GPAA1 NM_003801.4(GPAA1): c.527G> C (p.Trp176Ser) single nucleotide variant Likely pathogenic rs782220208 GRCh38 Chromosome 8, 144083951: 144083951
10 GPAA1 NM_003801.4(GPAA1): c.527G> C (p.Trp176Ser) single nucleotide variant Likely pathogenic rs782220208 GRCh37 Chromosome 8, 145138854: 145138854
11 GPAA1 NM_003801.4(GPAA1): c.160_161delGCinsAA (p.Ala54Asn) indel Uncertain significance rs1554763777 GRCh38 Chromosome 8, 144083209: 144083210
12 GPAA1 NM_003801.4(GPAA1): c.160_161delGCinsAA (p.Ala54Asn) indel Uncertain significance rs1554763777 GRCh37 Chromosome 8, 145138112: 145138113
13 GPAA1 NM_003801.4(GPAA1): c.869T> C (p.Leu290Pro) single nucleotide variant Likely pathogenic rs1554764058 GRCh38 Chromosome 8, 144084468: 144084468
14 GPAA1 NM_003801.4(GPAA1): c.869T> C (p.Leu290Pro) single nucleotide variant Likely pathogenic rs1554764058 GRCh37 Chromosome 8, 145139371: 145139371
15 GPAA1 NM_003801.4(GPAA1): c.152C> T (p.Ser51Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 144083201: 144083201
16 GPAA1 NM_003801.4(GPAA1): c.152C> T (p.Ser51Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 145138104: 145138104

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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