PCH11
MCID: PNT050
MIFTS: 26

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 75 29 6
Pch11 57 75
Pontocerebellar Hypoplasia 11 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


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)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 11, also known as pch11, is related to pontocerebellar hypoplasia, type 1a. An important gene associated with Pontocerebellar Hypoplasia, Type 11 is TBC1D23 (TBC1 Domain Family Member 23). Affiliated tissues include brain, cerebellum and pons, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Pontocerebellar Hypoplasia, Type 11

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 11

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
intellectual disability, severe
limb ataxia
inability to walk
difficulty walking
more
Respiratory:
recurrent respiratory infections

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

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
hypotonia
muscle atrophy

Growth Weight:
low weight

Head And Neck Teeth:
prominent incisors

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 Face:
dysmorphic features

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


Clinical features from OMIM:

617695

Human phenotypes related to Pontocerebellar Hypoplasia, Type 11:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 spasticity 32 very rare (1%) HP:0001257
3 dysarthria 32 HP:0001260
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 stereotypy 32 HP:0000733
7 intellectual disability, severe 32 HP:0010864
8 skeletal muscle atrophy 32 HP:0003202
9 limb ataxia 32 HP:0002070
10 inability to walk 32 HP:0002540
11 difficulty walking 32 HP:0002355
12 generalized hypotonia 32 HP:0001290
13 hypoplasia of the corpus callosum 32 HP:0002079
14 poor coordination 32 HP:0002370
15 esotropia 32 HP:0000565
16 coloboma 32 HP:0000589
17 hypermetropia 32 HP:0000540
18 broad-based gait 32 HP:0002136
19 happy demeanor 32 HP:0040082
20 poor eye contact 32 HP:0000817

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:

41
Brain, Cerebellum, Pons, Eye, Skeletal Muscle

Publications for Pontocerebellar Hypoplasia, Type 11

Variations for Pontocerebellar Hypoplasia, Type 11

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D23 NM_001199198.2(TBC1D23): c.1475_1476delTG (p.Val492Glyfs) deletion Pathogenic GRCh38 Chromosome 3, 100310464: 100310465
2 TBC1D23 NM_001199198.2(TBC1D23): c.1475_1476delTG (p.Val492Glyfs) deletion Pathogenic GRCh37 Chromosome 3, 100029308: 100029309
3 TBC1D23 NM_001199198.2(TBC1D23): c.1526delTinsAA (p.Ile509Lysfs) indel Pathogenic GRCh38 Chromosome 3, 100310515: 100310515
4 TBC1D23 NM_001199198.2(TBC1D23): c.1526delTinsAA (p.Ile509Lysfs) indel Pathogenic GRCh37 Chromosome 3, 100029359: 100029359
5 TBC1D23 NM_001199198.2(TBC1D23): c.1687+2T> G single nucleotide variant Pathogenic GRCh38 Chromosome 3, 100316189: 100316189
6 TBC1D23 NM_001199198.2(TBC1D23): c.1687+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 3, 100035033: 100035033
7 TBC1D23 NM_001199198.2(TBC1D23): c.1687+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 100035033: 100035033
8 TBC1D23 NM_001199198.2(TBC1D23): c.1687+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 100316189: 100316189
9 TBC1D23 NM_001199198.2(TBC1D23): c.1687+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 100316188: 100316188
10 TBC1D23 NM_001199198.2(TBC1D23): c.1687+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 100035032: 100035032

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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