PCH13
MCID: PNT053
MIFTS: 26

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 57 29 6
Pch13 57 73
Pontocerebellar Hypoplasia Type 13 17
Pontocerebellar Hypoplasia 13 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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)


HPO:

31
pontocerebellar hypoplasia, type 13:
Inheritance autosomal recessive inheritance


Classifications:



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 pons, cerebellum and liver, and related phenotypes are failure to thrive and constipation

OMIM® : 57 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) (Updated 05-Mar-2021)

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 13

Human phenotypes related to Pontocerebellar Hypoplasia, Type 13:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 constipation 31 very rare (1%) HP:0002019
3 sleep apnea 31 very rare (1%) HP:0010535
4 high palate 31 very rare (1%) HP:0000218
5 recurrent respiratory infections 31 very rare (1%) HP:0002205
6 microcephaly 31 very rare (1%) HP:0000252
7 anteverted nares 31 very rare (1%) HP:0000463
8 strabismus 31 very rare (1%) HP:0000486
9 low posterior hairline 31 very rare (1%) HP:0002162
10 epicanthus 31 very rare (1%) HP:0000286
11 overfolded helix 31 very rare (1%) HP:0000396
12 dandy-walker malformation 31 very rare (1%) HP:0001305
13 thin upper lip vermilion 31 very rare (1%) HP:0000219
14 short philtrum 31 very rare (1%) HP:0000322
15 asthma 31 very rare (1%) HP:0002099
16 severe global developmental delay 31 very rare (1%) HP:0011344
17 long eyelashes 31 very rare (1%) HP:0000527
18 volvulus 31 very rare (1%) HP:0002580
19 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
20 feeding difficulties 31 very rare (1%) HP:0011968
21 status epilepticus 31 very rare (1%) HP:0002133
22 single transverse palmar crease 31 very rare (1%) HP:0000954
23 pleural effusion 31 very rare (1%) HP:0002202
24 generalized hypotonia 31 very rare (1%) HP:0001290
25 inability to walk 31 very rare (1%) HP:0002540
26 cerebral visual impairment 31 very rare (1%) HP:0100704
27 hypoplasia of the pons 31 very rare (1%) HP:0012110
28 decreased liver function 31 very rare (1%) HP:0001410
29 enlarged cisterna magna 31 very rare (1%) HP:0002280
30 clubbing 31 very rare (1%) HP:0001217
31 hypoplastic hippocampus 31 very rare (1%) HP:0025517
32 delayed ability to sit 31 very rare (1%) HP:0025336
33 hypertelorism 31 HP:0000316
34 gait ataxia 31 HP:0002066
35 macrodontia 31 HP:0001572
36 thick upper lip vermilion 31 HP:0000215
37 dilation of lateral ventricles 31 HP:0006956

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor overall growth

Abdomen Gastrointestinal:
constipation
feeding difficulties
tube feeding

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

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

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 Eyes:
ptosis
hypertelorism
strabismus
epicanthal folds
nystagmus (patient a)
more
Neurologic Central Nervous System:
global developmental delay
absent speech
cerebral atrophy
ataxic gait
delayed walking
more
Skeletal Feet:
pes planus

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 (Updated 05-Mar-2021)

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

Genetic tests related to Pontocerebellar Hypoplasia, Type 13:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 13 29 VPS51

Anatomical Context for Pontocerebellar Hypoplasia, Type 13

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

40
Pons, Cerebellum, Liver, Brain

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. 6 57
31207318 2019
2
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes. 57 6
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 rs1590815040 11:64878941-64878941 11:65111469-65111469
2 VPS51 NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys) SNV Pathogenic 691589 rs1203009966 11:64876776-64876776 11:65109304-65109304
3 VPS51 NM_013265.4(VPS51):c.1421_1423del (p.Phe474del) Deletion Pathogenic 691590 rs752863502 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 rs120300996

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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