GPIBD17
MCID: GLY107
MIFTS: 20

Glycosylphosphatidylinositol Biosynthesis Defect 17 (GPIBD17)

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 17

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 17:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 17 57 72 29 6
Gpibd17 57 72
Glycosylphosphatidylinositol Biosynthesis Defect, Type 17 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
glycosylphosphatidylinositol biosynthesis defect 17:
Inheritance autosomal recessive inheritance
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) (Updated 20-May-2021)

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). Related phenotypes are global developmental delay and hypertriglyceridemia

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 17:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 hypertriglyceridemia 31 very rare (1%) HP:0002155
3 dysplastic corpus callosum 31 very rare (1%) HP:0006989
4 high palate 31 HP:0000218
5 growth delay 31 HP:0001510
6 specific learning disability 31 HP:0001328
7 clinodactyly of the 5th finger 31 HP:0004209
8 overfriendliness 31 HP:0100025
9 aggressive behavior 31 HP:0000718
10 generalized hypotonia 31 HP:0001290
11 poor speech 31 HP:0002465
12 clinodactyly of the 5th toe 31 HP:0001864
13 abnormal ear morphology 31 HP:0031703
14 congenital microcephaly 31 HP:0011451
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
over-friendly behavior

Skeletal Hands:
fifth finger clinodactyly

Skeletal Feet:
fifth toe clinodactyly

Growth Other:
poor overall growth

Head And Neck Ears:
abnormal ears

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
Head And Neck Head:
small head circumference

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

Clinical features from OMIM®:

618010 (Updated 20-May-2021)

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

Genetic tests related to Glycosylphosphatidylinositol Biosynthesis Defect 17:

# Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Biosynthesis Defect 17 29 PIGH

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 17

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 17

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 17:

# Title Authors PMID Year
1
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. 57 6
29573052 2018
2
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. 57 6
29603516 2018

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 17

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGH NM_004569.5(PIGH):c.1A>T (p.Met1Leu) SNV Pathogenic 545630 rs761543313 GRCh37: 14:68066920-68066920
GRCh38: 14:67600203-67600203
2 PIGH NM_004569.5(PIGH):c.307T>C (p.Ser103Pro) SNV Pathogenic 545631 rs776038451 GRCh37: 14:68060543-68060543
GRCh38: 14:67593826-67593826

UniProtKB/Swiss-Prot genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 17:

72
# Symbol AA change Variation ID SNP ID
1 PIGH p.Ser103Pro VAR_080993 rs776038451

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

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 17

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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