GPIBD11
MCID: GLY106
MIFTS: 24

Glycosylphosphatidylinositol Biosynthesis Defect 11 (GPIBD11)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 11

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 11:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 11 57 72
Hyperphosphatasia with Mental Retardation Syndrome 5 57 72 29 6 70
Gpibd11 57 72
Hpmrs5 57 72
Hyperphosphatasia with Mental Retardation Syndrome 5; Hpmrs5 57
Hyperphosphatasia with Mental Retardation Syndrome, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
glycosylphosphatidylinositol biosynthesis defect 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616025
OMIM Phenotypic Series 57 PS239300
MedGen 41 C4014958
UMLS 70 C4014958

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) (Updated 05-Apr-2021)

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 intellectual disability and macroglossia

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 11:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 macroglossia 31 HP:0000158
3 global developmental delay 31 HP:0001263
4 wide nasal bridge 31 HP:0000431
5 absent speech 31 HP:0001344
6 tented upper lip vermilion 31 HP:0010804
7 hypsarrhythmia 31 HP:0002521
8 elevated alkaline phosphatase 31 HP:0003155
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Genetic tests related to Glycosylphosphatidylinositol Biosynthesis Defect 11:

# Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 5 29 PIGW

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 11

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 11:

40
Tongue

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 11

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 11:

# Title Authors PMID Year
1
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. 57 6
27626616 2016
2
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. 57 6
24367057 2014

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 11

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 11:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGW NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro) SNV Pathogenic 156156 rs587777733 GRCh37: 17:34893161-34893161
GRCh38: 17:36537312-36537312
2 PIGW NM_001346754.2(PIGW):c.499A>G (p.Met167Val) SNV Pathogenic 156157 rs200024253 GRCh37: 17:34893449-34893449
GRCh38: 17:36537600-36537600
3 PIGW NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly) SNV Pathogenic 495299 rs1256773607 GRCh37: 17:34893410-34893410
GRCh38: 17:36537561-36537561
4 PIGW NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs) Deletion Likely pathogenic 1031309 GRCh37: 17:34894270-34894273
GRCh38: 17:36538421-36538424
5 PIGW NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) SNV Conflicting interpretations of pathogenicity 715283 rs368008171 GRCh37: 17:34893483-34893483
GRCh38: 17:36537634-36537634
6 PIGW NM_001346754.2(PIGW):c.617_620del (p.Val206fs) Deletion Conflicting interpretations of pathogenicity 377301 rs753385776 GRCh37: 17:34893565-34893568
GRCh38: 17:36537716-36537719
7 PIGW NM_001346754.2(PIGW):c.1259A>C (p.Asn420Thr) SNV Uncertain significance 1031308 GRCh37: 17:34894209-34894209
GRCh38: 17:36538360-36538360
8 PIGW NC_000017.11:g.(?_36537082)_(36538636_?)del Deletion Uncertain significance 584191 GRCh37: 17:34892931-34894485
GRCh38: 17:36537082-36538636
9 PIGW NM_001346754.2(PIGW):c.599C>T (p.Thr200Ile) SNV Uncertain significance 955604 GRCh37: 17:34893549-34893549
GRCh38: 17:36537700-36537700
10 PIGW NM_001346754.2(PIGW):c.424A>G (p.Ile142Val) SNV Uncertain significance 1003144 GRCh37: 17:34893374-34893374
GRCh38: 17:36537525-36537525
11 PIGW NC_000017.10:g.(?_34892951)_(34894465_?)dup Duplication Uncertain significance 1020705 GRCh37: 17:34892951-34894465
GRCh38:
12 PIGW NM_001346754.2(PIGW):c.296G>C (p.Arg99Pro) SNV Uncertain significance 1024240 GRCh37: 17:34893246-34893246
GRCh38: 17:36537397-36537397
13 PIGW NM_001346754.2(PIGW):c.951G>T (p.Met317Ile) SNV Uncertain significance 834561 GRCh37: 17:34893901-34893901
GRCh38: 17:36538052-36538052
14 PIGW NM_001346754.2(PIGW):c.1082T>A (p.Val361Glu) SNV Uncertain significance 841593 GRCh37: 17:34894032-34894032
GRCh38: 17:36538183-36538183
15 PIGW NM_001346754.2(PIGW):c.883C>T (p.Arg295Trp) SNV Uncertain significance 475250 rs367592728 GRCh37: 17:34893833-34893833
GRCh38: 17:36537984-36537984
16 PIGW NM_001346754.2(PIGW):c.34A>G (p.Ser12Gly) SNV Uncertain significance 576705 rs745967175 GRCh37: 17:34892984-34892984
GRCh38: 17:36537135-36537135
17 PIGW NM_001346754.2(PIGW):c.431T>G (p.Ile144Ser) SNV Uncertain significance 580147 rs754061279 GRCh37: 17:34893381-34893381
GRCh38: 17:36537532-36537532
18 overlap with 8 genes NC_000017.10:g.(?_34856670)_(35478412_?)del Deletion Uncertain significance 583497 GRCh37: 17:34856670-35478412
GRCh38:
19 overlap with 3 genes NC_000017.10:g.(?_34863642)_(34916711_?)dup Duplication Uncertain significance 583936 GRCh37: 17:34863642-34916711
GRCh38:
20 PIGW NM_001346754.2(PIGW):c.1115_1121del (p.Ala372fs) Deletion Uncertain significance 650414 rs779029016 GRCh37: 17:34894064-34894070
GRCh38: 17:36538215-36538221
21 PIGW NM_001346754.2(PIGW):c.909C>T (p.Arg303=) SNV Likely benign 718648 rs199843214 GRCh37: 17:34893859-34893859
GRCh38: 17:36538010-36538010
22 PIGW NM_001346754.2(PIGW):c.570T>C (p.Tyr190=) SNV Likely benign 737116 rs371568140 GRCh37: 17:34893520-34893520
GRCh38: 17:36537671-36537671
23 PIGW NM_001346754.2(PIGW):c.980A>G (p.His327Arg) SNV Likely benign 744921 rs528500343 GRCh37: 17:34893930-34893930
GRCh38: 17:36538081-36538081
24 PIGW NM_001346754.2(PIGW):c.1132G>C (p.Val378Leu) SNV Likely benign 779668 rs79448900 GRCh37: 17:34894082-34894082
GRCh38: 17:36538233-36538233
25 PIGW NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser) SNV Benign 784571 rs117789606 GRCh37: 17:34893203-34893203
GRCh38: 17:36537354-36537354
26 PIGW NM_001346754.2(PIGW):c.705C>G (p.His235Gln) SNV Benign 377070 rs61755368 GRCh37: 17:34893655-34893655
GRCh38: 17:36537806-36537806
27 PIGW NM_001346754.2(PIGW):c.1020C>T (p.Ala340=) SNV Benign 768874 rs74323480 GRCh37: 17:34893970-34893970
GRCh38: 17:36538121-36538121

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

72
# Symbol AA change Variation ID SNP ID
1 PIGW p.Thr71Pro VAR_071933 rs587777733
2 PIGW p.Met167Val VAR_071934 rs200024253

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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