GPIBD21
MCID: GLY113
MIFTS: 19

Glycosylphosphatidylinositol Biosynthesis Defect 21 (GPIBD21)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 21

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 21:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 21 56 73 6
Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis 56 73
Gpibd21 56 73
Nedbss 56 73
Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis; Nedbss 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
seizures may be intractable in some patients and partially controlled in others


Classifications:



External Ids:

OMIM 56 618590
MeSH 43 D008607
MedGen 41 CN262319

Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 21

OMIM : 56 Glycosylphosphatidylinositol biosynthesis defect-21 (GPIBD21) is an autosomal recessive disorder characterized by severely impaired psychomotor development, hypotonia, seizures, and structural brain anomalies, including thin corpus callosum and cerebellar atrophy. Other features include scoliosis, dysmorphic facies, and visual impairment. Affected individuals are usually unable to walk or speak and may require tube feeding in severe cases. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Knaus et al., 2019). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618590)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 21, is also known as neurodevelopmental disorder with brain anomalies, seizures, and scoliosis. An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 21 is PIGU (Phosphatidylinositol Glycan Anchor Biosynthesis Class U). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 73 Glycosylphosphatidylinositol biosynthesis defect 21: An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism.

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 21

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 21

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
malar flattening
smooth philtrum
high forehead
long face
bitemporal narrowing
more
Neurologic Central Nervous System:
seizures
global developmental delay
delayed myelination
cerebral atrophy
myoclonic seizures
more
Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
poor head control

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
tube feeding (in some patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
poor eye contact
epicanthal folds
optic atrophy (1 patient)
cortical visual impairment
more
Head And Neck Mouth:
thin upper lip
high-arched palate
large mouth

Laboratory Abnormalities:
normal serum alkaline phosphatase

Cardiovascular Heart:
supraventricular tachycardia (1 patient)

Clinical features from OMIM:

618590

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 21

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 21

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 21

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 21

MalaCards organs/tissues related to Glycosylphosphatidylinositol Biosynthesis Defect 21:

40
Brain, Eye

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 21

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 21:

# Title Authors PMID Year
1
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 56 6
31353022 2019

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 21

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 21:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGU NM_080476.4(PIGU):c.209T>A (p.Ile70Lys)SNV Pathogenic 689723 20:33233125-33233125 20:34645321-34645321
2 PIGU NM_080476.4(PIGU):c.1149C>A (p.Asn383Lys)SNV Pathogenic 689724 20:33162953-33162953 20:34575149-34575149

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 21

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 21.

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 21

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 21

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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