NEDHCAS
MCID: NRD098
MIFTS: 16

Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures (NEDHCAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures:

Name: Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures 56 6
Glycosylphosphatidylinositol Biosynthesis Defect 22; Gpibd22 56
Glycosylphosphatidylinositol Biosynthesis Defect 22 56
Nedhcas 56
Gpibd22 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable phenotype and severity


Classifications:



External Ids:

OMIM 56 618879

Summaries for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

OMIM : 56 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, delayed motor skills, and poor or absent speech. Most patients develop early-onset seizures and demonstrate cerebellar ataxia or dysmetria associated with progressive cerebellar atrophy on brain imaging. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2020). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618879)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures, is also known as glycosylphosphatidylinositol biosynthesis defect 22; gpibd22. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures is PIGK (Phosphatidylinositol Glycan Anchor Biosynthesis Class K). Affiliated tissues include brain.

Related Diseases for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
hyperreflexia
dysmetria
unsteady gait
more
Head And Neck Eyes:
nystagmus
strabismus
hypotelorism
synophrys
hypermetropia
more
Skeletal Hands:
brachydactyly

Skin Nails Hair Hair:
high anterior hairline

Head And Neck Nose:
long nose
broad nose

Head And Neck Teeth:
abnormal dentition
crowded teeth

Abdomen Gastrointestinal:
poor feeding (in some patients)

Head And Neck Face:
prominent forehead
long face
long philtrum
triangular face
myopathic face
more
Head And Neck Ears:
low-set ears
dysmorphic ears

Skeletal Feet:
brachydactyly

Head And Neck Head:
plagiocephaly
small head circumference

Head And Neck Mouth:
thin upper lip

Growth Other:
poor overall growth

Laboratory Abnormalities:
normal serum alkaline phosphatase

Clinical features from OMIM:

618879

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures

Genetic Tests for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures:

40
Brain

Publications for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Articles related to Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures:

# Title Authors PMID Year
1
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. 56 6
32220290 2020

Variations for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGK NM_005482.3(PIGK):c.823T>C (p.Cys275Arg)SNV Pathogenic 873117 1:77620297-77620297 1:77154612-77154612
2 PIGK NM_005482.3(PIGK):c.158C>T (p.Ser53Phe)SNV Pathogenic 873118 1:77672406-77672406 1:77206721-77206721
3 PIGK NM_005482.3(PIGK):c.260C>T (p.Ala87Val)SNV Pathogenic 873119 1:77635060-77635060 1:77169375-77169375
4 PIGK NM_005482.3(PIGK):c.479A>C (p.Tyr160Ser)SNV Pathogenic 873120 1:77632412-77632412 1:77166727-77166727
5 PIGK NM_005482.3(PIGK):c.97C>T (p.Gln33Ter)SNV Pathogenic 873121 1:77676171-77676171 1:77210486-77210486
6 PIGK NM_005482.3(PIGK):c.94-1G>CSNV Pathogenic 873122 1:77676175-77676175 1:77210490-77210490

Expression for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures.

Pathways for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

GO Terms for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

Sources for Neurodevelopmental Disorder with Hypotonia and Cerebellar...

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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