GPIBD11
MCID: GLY106
MIFTS: 20

Glycosylphosphatidylinositol Biosynthesis Defect 11 (GPIBD11)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 11

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 11:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 11 57 75
Hyperphosphatasia with Mental Retardation Syndrome 5 57 75 6 73
Gpibd11 57 75
Hpmrs5 57 75
Hyperphosphatasia with Mental Retardation Syndrome, Type 5 ) 40
Hyperphosphatasia with Mental Retardation Syndrome 5; Hpmrs5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
three patients from 2 unrelated families have been reported


HPO:

32
glycosylphosphatidylinositol biosynthesis defect 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 11

OMIM : 57 GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (616025)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 11, is also known as hyperphosphatasia with mental retardation syndrome 5, and has symptoms including tonic seizures An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 11 is PIGW (Phosphatidylinositol Glycan Anchor Biosynthesis Class W). Affiliated tissues include bone and tongue, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Glycosylphosphatidylinositol biosynthesis defect 11: An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase.

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 11

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 11

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
abnormal eeg
poor or absent speech
seizures, variable types

Head And Neck Mouth:
tented upper lip
large tongue

Head And Neck Nose:
broad nasal bridge

Laboratory Abnormalities:
increased serum alkaline phosphatase (in some patients)
decreased expression of glycosylphosphatidylinositol-anchored membrane proteins


Clinical features from OMIM:

616025

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 11:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 macroglossia 32 HP:0000158
4 global developmental delay 32 HP:0001263
5 wide nasal bridge 32 HP:0000431
6 absent speech 32 HP:0001344
7 tented upper lip vermilion 32 HP:0010804
8 hypsarrhythmia 32 HP:0002521
9 elevated alkaline phosphatase 32 HP:0003155

UMLS symptoms related to Glycosylphosphatidylinositol Biosynthesis Defect 11:


tonic seizures

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 11

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 11

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 11

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 11

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 11:

41
Bone, Tongue

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 11

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 11

UniProtKB/Swiss-Prot genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 11:

75
# Symbol AA change Variation ID SNP ID
1 PIGW p.Thr71Pro VAR_071933 rs587777733
2 PIGW p.Met167Val VAR_071934 rs200024253

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 11:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGW NM_178517.4(PIGW): c.211A> C (p.Thr71Pro) single nucleotide variant Pathogenic rs587777733 GRCh38 Chromosome 17, 36537312: 36537312
2 PIGW NM_178517.4(PIGW): c.211A> C (p.Thr71Pro) single nucleotide variant Pathogenic rs587777733 GRCh37 Chromosome 17, 34893161: 34893161
3 PIGW NM_178517.4(PIGW): c.499A> G (p.Met167Val) single nucleotide variant Pathogenic rs200024253 GRCh38 Chromosome 17, 36537600: 36537600
4 PIGW NM_178517.4(PIGW): c.499A> G (p.Met167Val) single nucleotide variant Pathogenic rs200024253 GRCh37 Chromosome 17, 34893449: 34893449
5 PIGW NM_178517.4(PIGW): c.883C> T (p.Arg295Trp) single nucleotide variant Uncertain significance rs367592728 GRCh38 Chromosome 17, 36537984: 36537984
6 PIGW NM_178517.4(PIGW): c.883C> T (p.Arg295Trp) single nucleotide variant Uncertain significance rs367592728 GRCh37 Chromosome 17, 34893833: 34893833
7 PIGW NM_178517.4(PIGW): c.460A> G (p.Arg154Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 36537561: 36537561
8 PIGW NM_178517.4(PIGW): c.460A> G (p.Arg154Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 34893410: 34893410
9 PIGW NC_000017.10: g.(?_34856670)_(35478412_?)del deletion Uncertain significance GRCh37 Chromosome 17, 34856670: 35478412
10 PIGW NC_000017.10: g.(?_34863642)_(34916711_?)dup duplication Uncertain significance GRCh37 Chromosome 17, 34863642: 34916711
11 PIGW NC_000017.11: g.(?_36537082)_(36538636_?)del deletion Uncertain significance GRCh38 Chromosome 17, 36537082: 36538636
12 PIGW NC_000017.11: g.(?_36537082)_(36538636_?)del deletion Uncertain significance GRCh37 Chromosome 17, 34892931: 34894485
13 PIGW NM_178517.4(PIGW): c.34A> G (p.Ser12Gly) single nucleotide variant Uncertain significance rs745967175 GRCh37 Chromosome 17, 34892984: 34892984
14 PIGW NM_178517.4(PIGW): c.34A> G (p.Ser12Gly) single nucleotide variant Uncertain significance rs745967175 GRCh38 Chromosome 17, 36537135: 36537135
15 PIGW NM_178517.4(PIGW): c.431T> G (p.Ile144Ser) single nucleotide variant Uncertain significance rs754061279 GRCh38 Chromosome 17, 36537532: 36537532
16 PIGW NM_178517.4(PIGW): c.431T> G (p.Ile144Ser) single nucleotide variant Uncertain significance rs754061279 GRCh37 Chromosome 17, 34893381: 34893381

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 11

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 11.

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 11

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 11

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 11

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