MCID: GLY106
MIFTS: 18

Glycosylphosphatidylinositol Biosynthesis Defect 11

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

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 11

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 11:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 11 57
Hyperphosphatasia with Mental Retardation Syndrome 5 57 75 6 73
Hpmrs5 57 75
Hyperphosphatasia with Mental Retardation Syndrome, Type 5 ) 40
Hyperphosphatasia with Mental Retardation Syndrome 5; Hpmrs5 57
Gpibd11 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 tongue, and related phenotypes are wide nasal bridge and intellectual disability

UniProtKB/Swiss-Prot : 75 Hyperphosphatasia with mental retardation syndrome 5: 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
Head And Neck Nose:
broad nasal bridge

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

Head And Neck Mouth:
tented upper lip
large tongue

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 6)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 32 HP:0000431
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 hypsarrhythmia 32 HP:0002521
5 elevated alkaline phosphatase 32 HP:0003155
6 tented upper lip vermilion 32 HP:0010804

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
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
# 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 GRCh37 Chromosome 17, 34893833: 34893833
6 PIGW NM_178517.4(PIGW): c.883C> T (p.Arg295Trp) single nucleotide variant Uncertain significance rs367592728 GRCh38 Chromosome 17, 36537984: 36537984
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

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

3 CDC
7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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