GPIBD15
MCID: GLY103
MIFTS: 23

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 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


HPO:

32
glycosylphosphatidylinositol biosynthesis defect 15:
Onset and clinical course variable expressivity infantile onset


Classifications:



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). Affiliated tissues include bone, and related phenotypes are nystagmus and osteopenia

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
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

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

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 osteopenia 32 HP:0000938
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 spasticity 32 HP:0001257
6 dysarthria 32 HP:0001260
7 tremor 32 HP:0001337
8 hyperreflexia 32 HP:0001347
9 eeg abnormality 32 HP:0002353
10 global developmental delay 32 HP:0001263
11 wide nasal bridge 32 HP:0000431
12 delayed speech and language development 32 HP:0000750
13 abnormal facial shape 32 very rare (1%) HP:0001999
14 anteverted nares 32 HP:0000463
15 visual impairment 32 very rare (1%) HP:0000505
16 optic atrophy 32 very rare (1%) HP:0000648
17 osteoporosis 32 HP:0000939
18 prominent forehead 32 HP:0011220
19 myopia 32 HP:0000545
20 gait ataxia 32 HP:0002066
21 dysmetria 32 HP:0001310
22 inability to walk 32 HP:0002540
23 cerebellar hypoplasia 32 HP:0001321
24 apraxia 32 HP:0002186
25 cerebellar atrophy 32 HP:0001272
26 poor speech 32 HP:0002465
27 narrow forehead 32 HP:0000341

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

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

41
Bone

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:

75
# 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 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 GRCh37 Chromosome 8, 145139483: 145139495
4 GPAA1 NM_003801.3(GPAA1): c.981_993delGTACAAGTATGAC (p.Gln327Hisfs) deletion Pathogenic GRCh38 Chromosome 8, 144084580: 144084592
5 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic GRCh37 Chromosome 8, 145139422: 145139422
6 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic GRCh38 Chromosome 8, 144084519: 144084519
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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