PCH11
MCID: PNT050
MIFTS: 29

Pontocerebellar Hypoplasia, Type 11 (PCH11)

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 11

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 11:

Name: Pontocerebellar Hypoplasia, Type 11 57 72 29 6
Pch11 57 72
Pontocerebellar Hypoplasia 11 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
non-progressive in most patients


HPO:

31
pontocerebellar hypoplasia, type 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 11

OMIM® : 57 PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (617695) (Updated 05-Apr-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 11, also known as pch11, is related to ataxia and polyneuropathy, adult-onset and pontocerebellar hypoplasia. An important gene associated with Pontocerebellar Hypoplasia, Type 11 is TBC1D23 (TBC1 Domain Family Member 23). Affiliated tissues include cerebellum, pons and eye, and related phenotypes are spasticity and seizure

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 11: A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 11

Human phenotypes related to Pontocerebellar Hypoplasia, Type 11:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 seizure 31 very rare (1%) HP:0001250
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 global developmental delay 31 HP:0001263
6 macrotia 31 HP:0000400
7 recurrent respiratory infections 31 HP:0002205
8 delayed speech and language development 31 HP:0000750
9 microcephaly 31 HP:0000252
10 short stature 31 HP:0004322
11 stereotypy 31 HP:0000733
12 intellectual disability, severe 31 HP:0010864
13 skeletal muscle atrophy 31 HP:0003202
14 talipes equinovarus 31 HP:0001762
15 bulbous nose 31 HP:0000414
16 hyporeflexia 31 HP:0001265
17 decreased body weight 31 HP:0004325
18 broad-based gait 31 HP:0002136
19 hypoplasia of the corpus callosum 31 HP:0002079
20 poor eye contact 31 HP:0000817
21 generalized hypotonia 31 HP:0001290
22 difficulty walking 31 HP:0002355
23 inability to walk 31 HP:0002540
24 coloboma 31 HP:0000589
25 hypermetropia 31 HP:0000540
26 esotropia 31 HP:0000565
27 limb ataxia 31 HP:0002070
28 poor coordination 31 HP:0002370
29 happy demeanor 31 HP:0040082

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
intellectual disability, severe
difficulty walking
inability to walk
limb ataxia
more
Respiratory:
recurrent respiratory infections

Head And Neck Eyes:
strabismus
poor eye contact
coloboma
esotropia
hyperopia

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
hypotonia
muscle atrophy

Growth Weight:
low weight

Head And Neck Face:
dysmorphic features

Growth Other:
poor overall growth, variable

Abdomen Gastrointestinal:
dysphagia

Growth Height:
short stature

Skeletal Feet:
talipes equinovarus

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
autistic features
attention deficit-hyperactivity
stereotypic behavior

Head And Neck Ears:
large ears

Head And Neck Nose:
bulbous nasal tip

Head And Neck Teeth:
prominent incisors

Head And Neck Head:
microcephaly, variable (up to -7 sd)

Clinical features from OMIM®:

617695 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 11

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 11

Genetic Tests for Pontocerebellar Hypoplasia, Type 11

Genetic tests related to Pontocerebellar Hypoplasia, Type 11:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 11 29 TBC1D23

Anatomical Context for Pontocerebellar Hypoplasia, Type 11

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 11:

40
Cerebellum, Pons, Eye, Skeletal Muscle

Publications for Pontocerebellar Hypoplasia, Type 11

Articles related to Pontocerebellar Hypoplasia, Type 11:

# Title Authors PMID Year
1
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 6 57
28823707 2017
2
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. 6 57
28823706 2017
3
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? 61
32360255 2020
4
Molecular analysis of two cDNA clones encoding acidic class I chitinase in maize. 61
7972490 1994
5
Posttranscriptional control of plasmid ColIb-P9 repZ gene expression by a small RNA. 61
1690705 1990

Variations for Pontocerebellar Hypoplasia, Type 11

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 11:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBC1D23 NM_001199198.3(TBC1D23):c.1687+2T>G SNV Pathogenic 397555 GRCh37: 3:100035033-100035033
GRCh38: 3:100316189-100316189
2 TBC1D23 NM_001199198.3(TBC1D23):c.1473_1474TG[1] (p.Val492fs) Microsatellite Pathogenic 397553 GRCh37: 3:100029306-100029307
GRCh38: 3:100310462-100310463
3 TBC1D23 NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) Indel Pathogenic 397554 rs1553730885 GRCh37: 3:100029359-100029359
GRCh38: 3:100310515-100310515
4 TBC1D23 NM_001199198.3(TBC1D23):c.1687+1G>A SNV Pathogenic 440764 rs1553731603 GRCh37: 3:100035032-100035032
GRCh38: 3:100316188-100316188
5 TBC1D23 NM_001199198.3(TBC1D23):c.1687+1G>C SNV Pathogenic 930943 GRCh37: 3:100035032-100035032
GRCh38: 3:100316188-100316188
6 TBC1D23 NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter) SNV Pathogenic 1031924 GRCh37: 3:100018112-100018112
GRCh38: 3:100299268-100299268
7 TBC1D23 NM_001199198.3(TBC1D23):c.801_802del (p.Asn268fs) Deletion Pathogenic 1031927 GRCh37: 3:100015044-100015045
GRCh38: 3:100296200-100296201
8 TBC1D23 NM_001199198.3(TBC1D23):c.1687+2T>A SNV Likely pathogenic 440763 rs1553731605 GRCh37: 3:100035033-100035033
GRCh38: 3:100316189-100316189
9 TBC1D23 NM_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn) SNV Uncertain significance 1029243 GRCh37: 3:100025301-100025301
GRCh38: 3:100306457-100306457
10 TBC1D23 NM_001199198.3(TBC1D23):c.170C>T (p.Ala57Val) SNV Uncertain significance 1029244 GRCh37: 3:100000590-100000590
GRCh38: 3:100281746-100281746
11 TBC1D23 NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val) SNV Uncertain significance 1031925 GRCh37: 3:100039680-100039680
GRCh38: 3:100320836-100320836
12 TBC1D23 NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser) SNV Uncertain significance 1031926 GRCh37: 3:100009483-100009483
GRCh38: 3:100290639-100290639
13 TBC1D23 NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) SNV Likely benign 801991 rs62636640 GRCh37: 3:99998531-99998531
GRCh38: 3:100279687-100279687

Expression for Pontocerebellar Hypoplasia, Type 11

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 11.

Pathways for Pontocerebellar Hypoplasia, Type 11

GO Terms for Pontocerebellar Hypoplasia, Type 11

Sources for Pontocerebellar Hypoplasia, Type 11

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