PCH7
MCID: PNT039
MIFTS: 28

Pontocerebellar Hypoplasia, Type 7 (PCH7)

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 7

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 7:

Name: Pontocerebellar Hypoplasia, Type 7 58 30 6 74
Pontocerebellar Hypoplasia Type 7 12 60 15
Pch7 58 60 76
Pontocerebellar Hypoplasia-46,xy Disorder of Sex Development Syndrome 60
Pontocerebellar Hypoplasia 7 76

Characteristics:

Orphanet epidemiological data:

60
pontocerebellar hypoplasia type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur


HPO:

33
pontocerebellar hypoplasia, type 7:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 7

UniProtKB/Swiss-Prot : 76 Pontocerebellar hypoplasia 7: A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 7, is also known as pontocerebellar hypoplasia type 7, and has symptoms including myoclonus and apnea. An important gene associated with Pontocerebellar Hypoplasia, Type 7 is TOE1 (Target Of EGR1, Exonuclease). Affiliated tissues include brain, pons and cerebellum, and related phenotypes are nystagmus and seizures

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has material basis in autosomal recessive mutation in the TOE1 gene.

OMIM : 58 Pontocerebellar hypoplasia type 7 is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by Anderson et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (614969)

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 7

Human phenotypes related to Pontocerebellar Hypoplasia, Type 7:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 seizures 33 HP:0001250
3 hyperreflexia 33 HP:0001347
4 macrotia 33 HP:0000400
5 global developmental delay 33 HP:0001263
6 depressed nasal bridge 33 HP:0005280
7 wide nasal bridge 33 HP:0000431
8 optic atrophy 33 HP:0000648
9 micrognathia 33 HP:0000347
10 epicanthus 33 HP:0000286
11 myoclonus 33 HP:0001336
12 absent speech 33 HP:0001344
13 apnea 33 HP:0002104
14 cerebellar hypoplasia 33 HP:0001321
15 thick upper lip vermilion 33 HP:0000215
16 ambiguous genitalia 33 HP:0000062
17 spastic paraplegia 33 HP:0001258
18 micropenis 33 HP:0000054
19 generalized hypotonia 33 HP:0001290
20 hypoplasia of the corpus callosum 33 HP:0002079
21 oculomotor apraxia 33 HP:0000657
22 cerebral atrophy 33 HP:0002059
23 hypoplasia of the pons 33 HP:0012110
24 progressive microcephaly 33 HP:0000253

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
oculomotor apraxia
epicanthal folds
poor fixation and following

Head And Neck Nose:
depressed nasal bridge
broad nasal root

Genitourinary External Genitalia Male:
ambiguous genitalia
micropenis

Head And Neck Ears:
large ears

Head And Neck Mouth:
prominent upper lip

Genitourinary Internal Genitalia Male:
lack of gonadal tissue
testicular regression

Neurologic Central Nervous System:
hyperreflexia
myoclonus
spastic paraplegia
cerebral atrophy
developmental delay
more
Head And Neck Face:
micrognathia

Muscle Soft Tissue:
hypotonia

Respiratory:
abnormal breathing pattern
apneic episodes

Head And Neck Head:
microcephaly, progressive (in some patients)

Endocrine Features:
increased baseline gonadotropins
functional anorchia

Clinical features from OMIM:

614969

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 7:


myoclonus, apnea

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 7

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 7

Genetic Tests for Pontocerebellar Hypoplasia, Type 7

Genetic tests related to Pontocerebellar Hypoplasia, Type 7:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 7 30 TOE1

Anatomical Context for Pontocerebellar Hypoplasia, Type 7

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 7:

42
Brain, Pons, Cerebellum, Eye, Testes

Publications for Pontocerebellar Hypoplasia, Type 7

Articles related to Pontocerebellar Hypoplasia, Type 7:

# Title Authors Year
1
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. ( 28092684 )
2017
2
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? ( 21594990 )
2011

Variations for Pontocerebellar Hypoplasia, Type 7

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 7:

76
# Symbol AA change Variation ID SNP ID
1 TOE1 p.Glu220Lys VAR_078809
2 TOE1 p.Arg73Ser VAR_078850 rs774056037
3 TOE1 p.Ala103Thr VAR_078851 rs371848318
4 TOE1 p.Phe148Tyr VAR_078852 rs148067486
5 TOE1 p.Val173Gly VAR_078853 rs777030573
6 TOE1 p.Phe239Ser VAR_078855 rs778263701
7 TOE1 p.Arg253Trp VAR_078856 rs368182654
8 TOE1 p.His319Gln VAR_078857 rs758153898
9 TOE1 p.His319Tyr VAR_078858 rs750266350
10 TOE1 p.Ser496Phe VAR_078859

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TOE1 TOE1, GLU220LYS single nucleotide variant Pathogenic
2 TOE1 TOE1, PHE148TYR (rs148067486) single nucleotide variant Pathogenic
3 TOE1 NM_025077.3(TOE1): c.307G> A (p.Ala103Thr) single nucleotide variant Pathogenic rs371848318 GRCh37 Chromosome 1, 45807215: 45807215
4 TOE1 NM_025077.3(TOE1): c.307G> A (p.Ala103Thr) single nucleotide variant Pathogenic rs371848318 GRCh38 Chromosome 1, 45341543: 45341543
5 TOE1 TOE1, VAL173GLY (rs777030573) undetermined variant Pathogenic
6 TOE1 TOE1, 2-BP DEL deletion Pathogenic
7 TOE1 TOE1, HIS319GLN (rs758153898) undetermined variant Pathogenic

Expression for Pontocerebellar Hypoplasia, Type 7

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 7.

Pathways for Pontocerebellar Hypoplasia, Type 7

GO Terms for Pontocerebellar Hypoplasia, Type 7

Sources for Pontocerebellar Hypoplasia, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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