GPIBD16
MCID: GLY104
MIFTS: 18

Glycosylphosphatidylinositol Biosynthesis Defect 16 (GPIBD16)

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



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). Affiliated tissues include bone, and related phenotypes are intellectual disability and seizures

Description from OMIM: 617816

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 16

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 16

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 16:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 poor speech 32 HP:0002465
5 delayed ability to walk 32 HP:0031936

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

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 16:

41
Bone

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 16

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 16

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

75
# Symbol AA change Variation ID SNP ID
1 PIGC p.Leu189Trp VAR_080521
2 PIGC p.Leu212Pro VAR_080522

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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