GPIBD17
MCID: GLY107
MIFTS: 19

Glycosylphosphatidylinositol Biosynthesis Defect 17 (GPIBD17)

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

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 17

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 17:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 17 57 75 6
Gpibd17 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or early childhood
three patients from 2 unrelated consanguineous families have been reported (last curated june 2018)


HPO:

32
glycosylphosphatidylinositol biosynthesis defect 17:
Onset and clinical course variable expressivity


Classifications:



Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 17

OMIM : 57 Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618010)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 17, is also known as gpibd17. An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 17 is PIGH (Phosphatidylinositol Glycan Anchor Biosynthesis Class H). Affiliated tissues include bone, and related phenotypes are seizures and global developmental delay

UniProtKB/Swiss-Prot : 75 Glycosylphosphatidylinositol biosynthesis defect 17: An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features.

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 17

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 17

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
over-friendly behavior

Skeletal Hands:
fifth finger clinodactyly

Skeletal Feet:
fifth toe clinodactyly

Head And Neck Head:
small head circumference

Laboratory Abnormalities:
normal alkaline phosphatase
decreased gpi-anchored proteins on granulocyte surface
increased triglycerides (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
learning disabilities
normal early development
delayed development, mild to moderate (in some patients)
limited speech (in some patients)
poor motor function (in some patients)
more
Growth Other:
poor overall growth

Head And Neck Ears:
abnormal ears


Clinical features from OMIM:

618010

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 17:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 very rare (1%) HP:0001263
3 hypertriglyceridemia 32 very rare (1%) HP:0002155
4 aggressive behavior 32 HP:0000718
5 dysplastic corpus callosum 32 very rare (1%) HP:0006989

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 17

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 17

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 17

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 17

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 17:

41
Bone

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 17

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 17

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGH NM_004569.4(PIGH): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs761543313 GRCh37 Chromosome 14, 68066920: 68066920
2 PIGH NM_004569.4(PIGH): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs761543313 GRCh38 Chromosome 14, 67600203: 67600203
3 PIGH NM_004569.4(PIGH): c.307T> C (p.Ser103Pro) single nucleotide variant Pathogenic rs776038451 GRCh37 Chromosome 14, 68060543: 68060543
4 PIGH NM_004569.4(PIGH): c.307T> C (p.Ser103Pro) single nucleotide variant Pathogenic rs776038451 GRCh38 Chromosome 14, 67593826: 67593826

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 17

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 17.

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 17

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 17

Molecular functions related to Glycosylphosphatidylinositol Biosynthesis Defect 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 8.62 GPHN PIGH

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 17

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
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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