MCID: GLY104
MIFTS: 15

Glycosylphosphatidylinositol Biosynthesis Defect 16

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

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 16

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 16:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 16 57 75 6
Mental Retardation, Autosomal Recessive 62 57 75
Gpibd16 57 75
Mrt62 57 75
Glycosylphosphatidylinositol Biosynthesis Defect, Type 16 40
Mental Retardation, Autosomal Recessive 62; Mrt62 57

Characteristics:

OMIM:

57
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)


Classifications:



External Ids:

OMIM 57 617816
MedGen 42 CN703738
MeSH 44 D008607

Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 16

UniProtKB/Swiss-Prot : 75 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).

Description from OMIM: 617816

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 16

Diseases in the Glycosylphosphatidylinositol Biosynthesis Defect 11 family:

Glycosylphosphatidylinositol Biosynthesis Defect 15 Glycosylphosphatidylinositol Biosynthesis Defect 16

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 16

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
global developmental delay
intellectual disability
seizures
poor speech
delayed walking

Laboratory Abnormalities:
normal serum alkaline phosphatase


Clinical features from OMIM:

617816

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

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 16

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 16

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 16

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGC NM_002642.3(PIGC): c.566T> G (p.Leu189Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 172442057: 172442057
2 PIGC NM_002642.3(PIGC): c.566T> G (p.Leu189Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 172411197: 172411197
3 PIGC NM_002642.3(PIGC): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs115209243 GRCh38 Chromosome 1, 172442562: 172442562
4 PIGC NM_002642.3(PIGC): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs115209243 GRCh37 Chromosome 1, 172411702: 172411702
5 PIGC NM_002642.3(PIGC): c.635T> C (p.Leu212Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 172441988: 172441988
6 PIGC NM_002642.3(PIGC): c.635T> C (p.Leu212Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 172411128: 172411128

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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