GPIBD15
MCID: GLY103
MIFTS: 24

Glycosylphosphatidylinositol Biosynthesis Defect 15 (GPIBD15)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome 60
Glycosylphosphatidylinositol Biosynthesis Defect, Type 15 41
Gpaa1-Related Biosynthesis Defect 60

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). Affiliated tissues include bone, and related phenotypes are visual impairment and optic atrophy

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 15 family:

Glycosylphosphatidylinositol Biosynthesis Defect 11 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:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 60 33 very rare (1%) Very rare (<4-1%) HP:0000505
2 optic atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0000648
3 abnormal facial shape 33 very rare (1%) HP:0001999
4 nystagmus 60 33 Frequent (79-30%) HP:0000639
5 osteopenia 60 33 Frequent (79-30%) HP:0000938
6 seizures 60 33 Very frequent (99-80%) HP:0001250
7 spasticity 60 33 Frequent (79-30%) HP:0001257
8 dysarthria 60 33 Frequent (79-30%) HP:0001260
9 tremor 60 33 Frequent (79-30%) HP:0001337
10 hyperreflexia 60 33 Frequent (79-30%) HP:0001347
11 eeg abnormality 60 33 Very frequent (99-80%) HP:0002353
12 delayed speech and language development 60 33 Frequent (79-30%) HP:0000750
13 anteverted nares 60 33 Frequent (79-30%) HP:0000463
14 osteoporosis 60 33 Frequent (79-30%) HP:0000939
15 prominent forehead 60 33 Frequent (79-30%) HP:0011220
16 myopia 60 33 Frequent (79-30%) HP:0000545
17 gait ataxia 60 33 Frequent (79-30%) HP:0002066
18 dysmetria 60 33 Frequent (79-30%) HP:0001310
19 cerebellar hypoplasia 60 33 Frequent (79-30%) HP:0001321
20 cerebellar atrophy 60 33 Frequent (79-30%) HP:0001272
21 narrow forehead 60 33 Frequent (79-30%) HP:0000341
22 hypertelorism 60 Frequent (79-30%)
23 intellectual disability 33 HP:0001249
24 global developmental delay 33 HP:0001263
25 wide nasal bridge 33 HP:0000431
26 intellectual disability, mild 60 Frequent (79-30%)
27 neurodevelopmental delay 60 Frequent (79-30%)
28 inability to walk 33 HP:0002540
29 generalized tonic-clonic seizures 60 Frequent (79-30%)
30 apraxia 33 HP:0002186
31 status epilepticus 60 Very rare (<4-1%)
32 broad nasal tip 60 Frequent (79-30%)
33 difficulty walking 60 Frequent (79-30%)
34 generalized hypotonia 60 Frequent (79-30%)
35 oculomotor apraxia 60 Frequent (79-30%)
36 elevated alkaline phosphatase 60 Excluded (0%)
37 poor speech 33 HP:0002465
38 difficulty standing 60 Frequent (79-30%)

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

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

42
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:

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 GRCh37 Chromosome 8, 145139483: 145139495
4 GPAA1 NM_003801.3(GPAA1): c.981_993delGTACAAGTATGAC (p.Gln327Hisfs) deletion Pathogenic rs1554764080 GRCh38 Chromosome 8, 144084580: 144084592
5 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic rs1554764067 GRCh37 Chromosome 8, 145139422: 145139422
6 GPAA1 NM_003801.3(GPAA1): c.920delG (p.Gly307Alafs) deletion Pathogenic rs1554764067 GRCh38 Chromosome 8, 144084519: 144084519
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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