GPIBD18
MCID: GLY108
MIFTS: 23

Glycosylphosphatidylinositol Biosynthesis Defect 18 (GPIBD18)

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 18

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 18:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 18 57 72 29 6 39
Gpibd18 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in utero or early infancy
three unrelated families have been reported (last curated october 2018)
family a had 2 affected fetuses


HPO:

31
glycosylphosphatidylinositol biosynthesis defect 18:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 18

OMIM® : 57 GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618143) (Updated 20-May-2021)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 18, is also known as gpibd18. An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 18 is PIGS (Phosphatidylinositol Glycan Anchor Biosynthesis Class S). Related phenotypes are scoliosis and nystagmus

UniProtKB/Swiss-Prot : 72 Glycosylphosphatidylinositol biosynthesis defect 18: An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features.

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 18

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 18

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 18:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 nystagmus 31 very rare (1%) HP:0000639
3 ataxia 31 very rare (1%) HP:0001251
4 gait disturbance 31 very rare (1%) HP:0001288
5 constipation 31 very rare (1%) HP:0002019
6 macroglossia 31 very rare (1%) HP:0000158
7 coarse facial features 31 very rare (1%) HP:0000280
8 hearing impairment 31 very rare (1%) HP:0000365
9 global developmental delay 31 very rare (1%) HP:0001263
10 hepatomegaly 31 very rare (1%) HP:0002240
11 inguinal hernia 31 very rare (1%) HP:0000023
12 gingival overgrowth 31 very rare (1%) HP:0000212
13 widely spaced teeth 31 very rare (1%) HP:0000687
14 pectus carinatum 31 very rare (1%) HP:0000768
15 microcephaly 31 very rare (1%) HP:0000252
16 cardiomegaly 31 very rare (1%) HP:0001640
17 cryptorchidism 31 very rare (1%) HP:0000028
18 short 4th metacarpal 31 very rare (1%) HP:0010044
19 cystic hygroma 31 very rare (1%) HP:0000476
20 joint laxity 31 very rare (1%) HP:0001388
21 multiple joint contractures 31 very rare (1%) HP:0002828
22 fetal akinesia sequence 31 very rare (1%) HP:0001989
23 cerebral cortical atrophy 31 very rare (1%) HP:0002120
24 brachydactyly 31 very rare (1%) HP:0001156
25 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
26 preauricular skin tag 31 very rare (1%) HP:0000384
27 highly arched eyebrow 31 very rare (1%) HP:0002553
28 deep philtrum 31 very rare (1%) HP:0002002
29 thickened helices 31 very rare (1%) HP:0000391
30 feeding difficulties 31 very rare (1%) HP:0011968
31 cerebellar atrophy 31 very rare (1%) HP:0001272
32 generalized hypotonia 31 very rare (1%) HP:0001290
33 cerebral visual impairment 31 very rare (1%) HP:0100704
34 vertical forehead creases 31 very rare (1%) HP:0011221
35 short chin 31 very rare (1%) HP:0000331
36 elevated alkaline phosphatase 31 very rare (1%) HP:0003155
37 low alkaline phosphatase 31 very rare (1%) HP:0003282
38 short fourth metatarsal 31 very rare (1%) HP:0004689
39 seizure 31 very rare (1%) HP:0001250
40 umbilical hernia 31 HP:0001537
41 short distal phalanx of finger 31 HP:0009882
42 arthrogryposis multiplex congenita 31 HP:0002804
43 profound global developmental delay 31 HP:0012736
44 long nose 31 HP:0003189
45 single transverse palmar crease 31 HP:0000954
46 posteriorly rotated ears 31 HP:0000358
47 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
arched eyebrows
cortical visual impairment (in some patients)
almond-shaped palpebral fissures
inability to track or smile

Head And Neck Mouth:
macroglossia
gingival hypertrophy

Abdomen Liver:
hepatomegaly

Head And Neck Teeth:
widely spaced teeth

Abdomen External Features:
umbilical hernia

Skeletal:
joint laxity
arthrogryposis (family a)

Head And Neck Nose:
long nose

Head And Neck Ears:
posteriorly rotated ears
hearing loss (in some patients)
thick ears
thick helices

Skeletal Feet:
bulbous toes
short fourth metatarsals

Skeletal Pelvis:
hip laxity

Neurologic Central Nervous System:
ataxia
cerebellar atrophy
inability to walk
poor or absent speech
global developmental delay, profound
more
Head And Neck Face:
coarse facial features
deep philtrum
wrinkled forehead

Muscle Soft Tissue:
inguinal hernia
hypotonia

Chest External Features:
pectus carinatum

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
single transverse palmar crease
fifth finger clinodactyly
hypoplastic distal phalanges
short fourth metacarpals

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Head:
microcephaly (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM®:

618143 (Updated 20-May-2021)

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 18

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 18

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 18

Genetic tests related to Glycosylphosphatidylinositol Biosynthesis Defect 18:

# Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Biosynthesis Defect 18 29 PIGS

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 18

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 18

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 18:

# Title Authors PMID Year
1
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. 6 57
30269814 2018

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 18

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGS NM_033198.4(PIGS):c.1316_1352delinsGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu) Indel Pathogenic 585255 rs1567614073 GRCh37: 17:26881909-26881945
GRCh38: 17:28554891-28554927
2 PIGS NM_033198.4(PIGS):c.468+1G>C SNV Pathogenic 585257 rs1567616570 GRCh37: 17:26890448-26890448
GRCh38: 17:28563430-28563430
3 PIGS NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) SNV Likely pathogenic 585256 rs1426262136 GRCh37: 17:26885505-26885505
GRCh38: 17:28558487-28558487
4 PIGS NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) SNV Likely pathogenic 585253 rs1263517814 GRCh37: 17:26898133-26898133
GRCh38: 17:28571115-28571115
5 PIGS NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) SNV Likely pathogenic 585254 rs1567618413 GRCh37: 17:26898140-26898140
GRCh38: 17:28571122-28571122
6 PIGS NM_033198.4(PIGS):c.1274G>A (p.Arg425Gln) SNV Uncertain significance 1028510 GRCh37: 17:26881987-26881987
GRCh38: 17:28554969-28554969
7 PIGS NM_033198.4(PIGS):c.526C>T (p.Arg176Trp) SNV Uncertain significance 1028511 GRCh37: 17:26888590-26888590
GRCh38: 17:28561572-28561572
8 PIGS NM_033198.4(PIGS):c.1204C>T (p.Pro402Ser) SNV Uncertain significance 1031035 GRCh37: 17:26882057-26882057
GRCh38: 17:28555039-28555039

UniProtKB/Swiss-Prot genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 18:

72
# Symbol AA change Variation ID SNP ID
1 PIGS p.Leu34Pro VAR_081579 rs156761841
2 PIGS p.Glu308Gly VAR_081581 rs142626213

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 18

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 18.

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 18

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 18

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 18

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
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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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