GPIBD16
MCID: GLY104
MIFTS: 21

Glycosylphosphatidylinositol Biosynthesis Defect 16 (GPIBD16)

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 16

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 16:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 16 57 72 29 6
Mental Retardation, Autosomal Recessive 62 57 72
Gpibd16 57 72
Mrt62 57 72
Glycosylphosphatidylinositol Biosynthesis Defect, Type 16 39
Mental Retardation, Autosomal Recessive 62; Mrt62 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in the first year of life
seizures may be controlled or remit with age
three patients from 2 unrelated families have been reported (last curated december 2017)


HPO:

31
glycosylphosphatidylinositol biosynthesis defect 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617816
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607

Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 16

UniProtKB/Swiss-Prot : 72 Glycosylphosphatidylinositol biosynthesis defect 16: An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures.

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 16, is also known as mental retardation, autosomal recessive 62. An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 16 is PIGC (Phosphatidylinositol Glycan Anchor Biosynthesis Class C). Related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 617816 PS249500

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 16

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 16

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 16:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 poor speech 31 HP:0002465
4 delayed ability to walk 31 HP:0031936
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
global developmental delay
poor speech
delayed walking

Laboratory Abnormalities:
normal serum alkaline phosphatase

Clinical features from OMIM®:

617816 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 16

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 16

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 16

Genetic tests related to Glycosylphosphatidylinositol Biosynthesis Defect 16:

# Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Biosynthesis Defect 16 29 PIGC

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 16

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 16

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 16:

# Title Authors PMID Year
1
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. 6 57
27694521 2017

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 16

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1orf105 , PIGC NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) SNV Likely pathogenic 471151 rs1553259614 GRCh37: 1:172411197-172411197
GRCh38: 1:172442057-172442057
2 C1orf105 , PIGC NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) SNV Likely pathogenic 471154 rs1553259602 GRCh37: 1:172411128-172411128
GRCh38: 1:172441988-172441988
3 C1orf105 , PIGC NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer) Insertion Likely pathogenic 917868 GRCh37: 1:172411750-172411751
GRCh38: 1:172442610-172442611
4 C1orf105 , PIGC NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) SNV Likely pathogenic 471153 rs115209243 GRCh37: 1:172411702-172411702
GRCh38: 1:172442562-172442562
5 C1orf105 , PIGC NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) SNV Uncertain significance 1029615 GRCh37: 1:172411455-172411455
GRCh38: 1:172442315-172442315
6 C1orf105 , PIGC NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) SNV Uncertain significance 1029616 GRCh37: 1:172411374-172411374
GRCh38: 1:172442234-172442234
7 C1orf105 , PIGC NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) SNV Uncertain significance 1033524 GRCh37: 1:172411024-172411024
GRCh38: 1:172441884-172441884
8 C1orf105 , PIGC NM_153747.2(PIGC):c.812G>A (p.Arg271His) SNV Uncertain significance 1033525 GRCh37: 1:172410951-172410951
GRCh38: 1:172441811-172441811
9 C1orf105 , PIGC NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter) SNV Uncertain significance 982966 GRCh37: 1:172411625-172411625
GRCh38: 1:172442485-172442485

UniProtKB/Swiss-Prot genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 16:

72
# Symbol AA change Variation ID SNP ID
1 PIGC p.Leu189Trp VAR_080521 rs155325961
2 PIGC p.Leu212Pro VAR_080522 rs155325960

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 16

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 16.

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 16

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 16

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 16

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
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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