GPIBD18
MCID: GLY108
MIFTS: 20

Glycosylphosphatidylinositol Biosynthesis Defect 18 (GPIBD18)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal 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:
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 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 38)
# 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 widely spaced teeth 33 very rare (1%) HP:0000687
12 global developmental delay 33 very rare (1%) HP:0001263
13 hepatomegaly 33 very rare (1%) HP:0002240
14 pectus carinatum 33 very rare (1%) HP:0000768
15 microcephaly 33 very rare (1%) HP:0000252
16 cardiomegaly 33 very rare (1%) HP:0001640
17 feeding difficulties 33 very rare (1%) HP:0011968
18 cryptorchidism 33 very rare (1%) HP:0000028
19 short 4th metacarpal 33 very rare (1%) HP:0010044
20 cystic hygroma 33 very rare (1%) HP:0000476
21 cerebral cortical atrophy 33 very rare (1%) HP:0002120
22 joint laxity 33 very rare (1%) HP:0001388
23 multiple joint contractures 33 very rare (1%) HP:0002828
24 fetal akinesia sequence 33 very rare (1%) HP:0001989
25 clinodactyly of the 5th finger 33 very rare (1%) HP:0004209
26 brachydactyly 33 very rare (1%) HP:0001156
27 deep philtrum 33 very rare (1%) HP:0002002
28 highly arched eyebrow 33 very rare (1%) HP:0002553
29 thickened helices 33 very rare (1%) HP:0000391
30 preauricular skin tag 33 very rare (1%) HP:0000384
31 cerebellar atrophy 33 very rare (1%) HP:0001272
32 generalized hypotonia 33 very rare (1%) HP:0001290
33 elevated alkaline phosphatase 33 very rare (1%) HP:0003155
34 short fourth metatarsal 33 very rare (1%) HP:0004689
35 short chin 33 very rare (1%) HP:0000331
36 low alkaline phosphatase 33 very rare (1%) HP:0003282
37 vertical forehead creases 33 very rare (1%) HP:0011221
38 cerebral visual impairment 33 very rare (1%) HP:0100704

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

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 18

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 18

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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