GPIBD18
MCID: GLY108
MIFTS: 21

Glycosylphosphatidylinositol Biosynthesis Defect 18 (GPIBD18)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental 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 58 76 6 41
Gpibd18 58 76

Characteristics:

OMIM:

58
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:

33
glycosylphosphatidylinositol biosynthesis defect 18:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 18

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
arched eyebrows
almond-shaped palpebral fissures
cortical visual impairment (in some patients)
inability to track or smile

Muscle Soft Tissue:
inguinal hernia
hypotonia

Head And Neck Face:
coarse facial features
deep philtrum
wrinkled forehead

Abdomen Liver:
hepatomegaly

Abdomen External Features:
umbilical hernia

Genitourinary External Genitalia Male:
cryptorchidism

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

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
inability to walk
cerebellar atrophy
poor or absent speech
global developmental delay, profound
more
Head And Neck Mouth:
macroglossia
gingival hypertrophy

Head And Neck Teeth:
widely spaced teeth

Chest External Features:
pectus carinatum

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
joint laxity
arthrogryposis (family a)

Head And Neck Nose:
long nose

Head And Neck Head:
microcephaly (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM:

618143

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

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 18

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 18:

42
Skin, Bone

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 18

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 18:

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

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 18

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

76
# Symbol AA change Variation ID SNP ID
1 PIGS p.Leu34Pro VAR_081579
2 PIGS p.Glu308Gly VAR_081581

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGS NM_033198.3(PIGS): c.108G> A (p.Trp36Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 26898133: 26898133
2 PIGS NM_033198.3(PIGS): c.108G> A (p.Trp36Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 28571115: 28571115
3 PIGS NM_033198.3(PIGS): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 26898140: 26898140
4 PIGS NM_033198.3(PIGS): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 28571122: 28571122
5 PIGS NM_033198.3(PIGS): c.1316_1352del37insGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu) indel Pathogenic GRCh38 Chromosome 17, 28554891: 28554927
6 PIGS NM_033198.3(PIGS): c.1316_1352del37insGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu) indel Pathogenic GRCh37 Chromosome 17, 26881909: 26881945
7 PIGS NM_033198.3(PIGS): c.923A> G (p.Glu308Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 28558487: 28558487
8 PIGS NM_033198.3(PIGS): c.923A> G (p.Glu308Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 26885505: 26885505
9 PIGS NM_033198.3(PIGS): c.468+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 17, 26890448: 26890448
10 PIGS NM_033198.3(PIGS): c.468+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 17, 28563430: 28563430

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

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