MCID: PNT050
MIFTS: 23

Pontocerebellar Hypoplasia, Type 11

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



External Ids:

OMIM 57 617695
MeSH 44 D002526

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, pons and cerebellum.

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

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

Anatomical Context for Pontocerebellar Hypoplasia, Type 11

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

41
Brain, Pons, Cerebellum, Eye

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
38 LifeMap
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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