PCH13
MCID: PNT053
MIFTS: 22

Pontocerebellar Hypoplasia, Type 13 (PCH13)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 13

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 13:

Name: Pontocerebellar Hypoplasia, Type 13 56 6
Pch13 56 73
Pontocerebellar Hypoplasia Type 13 17
Pontocerebellar Hypoplasia 13 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
patient a had the most severe phenotype
three patients from 2 unrelated families have been reported (last curated october 2019)


Classifications:



External Ids:

OMIM 56 618606
OMIM Phenotypic Series 56 PS607596
MeSH 43 D002526
MedGen 41 CN262355

Summaries for Pontocerebellar Hypoplasia, Type 13

UniProtKB/Swiss-Prot : 73 Pontocerebellar hypoplasia 13: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 13, is also known as pch13. An important gene associated with Pontocerebellar Hypoplasia, Type 13 is VPS51 (VPS51 Subunit Of GARP Complex). Affiliated tissues include brain, cerebellum and pons.

OMIM : 56 Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by Uwineza et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (618606)

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 13

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
absent speech
cerebral atrophy
ataxic gait
delayed walking
more
Head And Neck Eyes:
hypertelorism
strabismus
ptosis
epicanthal folds
nystagmus (patient a)
more
Growth Other:
failure to thrive
poor overall growth

Abdomen Gastrointestinal:
feeding difficulties
constipation
tube feeding

Head And Neck Ears:
overfolded ears

Head And Neck Teeth:
dental caries

Abdomen Liver:
hepatomegaly (patient a)
cholestatic hepatitis (patient a)
hepatic dysfunction (patient a)

Respiratory:
recurrent respiratory infections (patient a)
sleep apnea (patient a)
asthma (patient a)

Skin Nails Hair Nails:
clubbed fingernails (patient a)

Head And Neck Mouth:
narrow palate
open mouth
thin upper lip
high-arched palate
thick vermilion of the upper lip

Skeletal Feet:
pes planus

Head And Neck Face:
full cheeks
short philtrum
dysmorphic facial features, variable
hypotonic facies

Muscle Soft Tissue:
hypotonia
lower extremity edema (patient a)

Head And Neck Nose:
upturned nasal tip

Head And Neck Head:
microcephaly (-3 to -4 sd)

Laboratory Abnormalities:
abnormal liver enzymes (patient a)
hypoglycosylation of serum transferrin (patient a)

Skeletal Skull:
brachycephaly (patient a)

Clinical features from OMIM:

618606

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 13

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 13

Genetic Tests for Pontocerebellar Hypoplasia, Type 13

Anatomical Context for Pontocerebellar Hypoplasia, Type 13

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 13:

40
Brain, Cerebellum, Pons, Liver

Publications for Pontocerebellar Hypoplasia, Type 13

Articles related to Pontocerebellar Hypoplasia, Type 13:

# Title Authors PMID Year
1
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. 56 6
31207318 2019
2
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes. 6 56
30624672 2019
3
Cloning of the ATP phosphoribosyl transferase gene of Corynebacterium glutamicum and application of the gene to L-histidine production. 61
7764856 1994

Variations for Pontocerebellar Hypoplasia, Type 13

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 13:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VPS51 NM_013265.4(VPS51):c.2232del (p.Asp745fs)deletion Pathogenic 691588 11:64878941-64878941 11:65111469-65111469
2 VPS51 NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys)SNV Pathogenic 691589 11:64876776-64876776 11:65109304-65109304
3 VPS51 NM_013265.4(VPS51):c.1421_1423del (p.Phe474del)deletion Pathogenic 691590 11:64876362-64876364 11:65108890-65108892

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 13:

73
# Symbol AA change Variation ID SNP ID
1 VPS51 p.Arg490Cys VAR_083139

Expression for Pontocerebellar Hypoplasia, Type 13

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 13.

Pathways for Pontocerebellar Hypoplasia, Type 13

GO Terms for Pontocerebellar Hypoplasia, Type 13

Sources for Pontocerebellar Hypoplasia, Type 13

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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