MCID: GLY108
MIFTS: 14

Glycosylphosphatidylinositol Biosynthesis Defect 18

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 57 6
Gpibd18 57

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

OMIM 57 618143

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)

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 bone.

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 18

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 18

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone

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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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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