GPIBD15
MCID: GLY103
MIFTS: 26

Glycosylphosphatidylinositol Biosynthesis Defect 15 (GPIBD15)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic 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 57 72 29 6
Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 57 72
Gpibd15 57 72
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome 58
Glycosylphosphatidylinositol Biosynthesis Defect, Type 15 39
Gpaa1-Related Biosynthesis Defect 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
glycosylphosphatidylinositol biosynthesis defect 15:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 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 1 family:

Glycosylphosphatidylinositol Biosynthesis Defect 11 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 10.3
2 hypotonia 10.3

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 15

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
7 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
10 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
11 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
12 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
13 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
14 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
15 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
16 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
17 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
18 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
19 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
20 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
21 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
22 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
23 difficulty standing 58 31 frequent (33%) Frequent (79-30%) HP:0003698
24 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
25 visual impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000505
26 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
27 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
28 abnormal facial shape 31 very rare (1%) HP:0001999
29 anteverted nares 58 31 Frequent (79-30%) HP:0000463
30 intellectual disability 31 HP:0001249
31 seizures 58 Very frequent (99-80%)
32 global developmental delay 31 HP:0001263
33 wide nasal bridge 31 HP:0000431
34 neurodevelopmental delay 58 Frequent (79-30%)
35 generalized tonic-clonic seizures 58 Frequent (79-30%)
36 inability to walk 31 HP:0002540
37 poor speech 31 HP:0002465
38 apraxia 31 HP:0002186
39 elevated alkaline phosphatase 58 Excluded (0%)
40 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
tremor
dysmetria
more
Skeletal:
osteopenia
osteoporosis

Head And Neck Face:
prominent forehead
bitemporal narrowing
dysmorphic facial features, mild (in some patients)

Laboratory Abnormalities:
normal alkaline phosphatase

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

Head And Neck Nose:
anteverted nares
broad nasal root

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

617810 (Updated 20-May-2021)

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

Genetic tests related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

# Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Biosynthesis Defect 15 29 GPAA1

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 15

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 15

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 15:

# Title Authors PMID Year
1
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. 57 6 61
29100095 2017

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 15

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 15:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPAA1 NM_003801.4(GPAA1):c.920del (p.Gly307fs) Deletion Pathogenic 453249 rs1554764067 GRCh37: 8:145139421-145139421
GRCh38: 8:144084518-144084518
2 GPAA1 NM_003801.4(GPAA1):c.981_993del (p.Gln327fs) Deletion Pathogenic 453248 rs1554764080 GRCh37: 8:145139483-145139495
GRCh38: 8:144084580-144084592
3 GPAA1 NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) Deletion Pathogenic 802447 rs782339984 GRCh37: 8:145140501-145140502
GRCh38: 8:144085598-144085599
4 GPAA1 NM_003801.4(GPAA1):c.1256C>G (p.Ser419Ter) SNV Pathogenic 997647 GRCh37: 8:145140037-145140037
GRCh38: 8:144085134-144085134
5 GPAA1 NM_003801.4(GPAA1):c.319_320del (p.Ser107fs) Microsatellite Pathogenic 1028657 GRCh37: 8:145138354-145138355
GRCh38: 8:144083451-144083452
6 GPAA1 NM_003801.4(GPAA1):c.619del (p.Met207fs) Deletion Pathogenic 523980 rs782615259 GRCh37: 8:145139039-145139039
GRCh38: 8:144084136-144084136
7 GPAA1 NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) SNV Likely pathogenic 453251 rs782220208 GRCh37: 8:145138854-145138854
GRCh38: 8:144083951-144083951
8 GPAA1 NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu) SNV Likely pathogenic 617925 rs1554763770 GRCh37: 8:145138104-145138104
GRCh38: 8:144083201-144083201
9 GPAA1 NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) SNV Likely pathogenic 802446 rs922800309 GRCh37: 8:145139139-145139139
GRCh38: 8:144084236-144084236
10 GPAA1 NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) SNV Likely pathogenic 453250 rs782768127 GRCh37: 8:145139946-145139946
GRCh38: 8:144085043-144085043
11 GPAA1 NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) SNV Likely pathogenic 453247 rs1010907740 GRCh37: 8:145139374-145139374
GRCh38: 8:144084471-144084471
12 GPAA1 NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) SNV Likely pathogenic 453253 rs1554764058 GRCh37: 8:145139371-145139371
GRCh38: 8:144084468-144084468
13 GPAA1 NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) Indel Uncertain significance 453252 rs1554763777 GRCh37: 8:145138112-145138113
GRCh38: 8:144083209-144083210
14 GPAA1 NM_003801.4(GPAA1):c.1268G>A (p.Gly423Glu) SNV Uncertain significance 1034025 GRCh37: 8:145140199-145140199
GRCh38: 8:144085296-144085296
15 GPAA1 NM_003801.4(GPAA1):c.1658C>T (p.Pro553Leu) SNV Uncertain significance 1034026 GRCh37: 8:145140820-145140820
GRCh38: 8:144085917-144085917
16 GPAA1 NM_003801.4(GPAA1):c.1723G>T (p.Ala575Ser) SNV Uncertain significance 1028655 GRCh37: 8:145140885-145140885
GRCh38: 8:144085982-144085982
17 GPAA1 NM_003801.4(GPAA1):c.29G>A (p.Arg10Gln) SNV Uncertain significance 1028656 GRCh37: 8:145137662-145137662
GRCh38: 8:144082759-144082759

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

72
# Symbol AA change Variation ID SNP ID
1 GPAA1 p.Ser51Leu VAR_080543 rs155476377
2 GPAA1 p.Trp176Ser VAR_080545 rs782220208
3 GPAA1 p.Leu290Pro VAR_080546 rs155476405
4 GPAA1 p.Leu291Pro VAR_080547 rs101090774
5 GPAA1 p.Ala389Pro VAR_080548 rs782768127

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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