PCH1D
MCID: PNT051
MIFTS: 29

Pontocerebellar Hypoplasia, Type 1d (PCH1D)

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 1d

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1d:

Name: Pontocerebellar Hypoplasia, Type 1d 57 72 29 6
Pch1d 57 72
Pontocerebellar Hypoplasia 1d 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or in early infancy
variable features
death in childhood may occur
four unrelated patients have been reported (last curated july 2018)


HPO:

31
pontocerebellar hypoplasia, type 1d:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 1d

OMIM® : 57 Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (618065) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1d, also known as pch1d, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 1e. An important gene associated with Pontocerebellar Hypoplasia, Type 1d is EXOSC9 (Exosome Component 9). Affiliated tissues include eye and skeletal muscle, and related phenotypes are spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 1D: An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur.

Related Diseases for Pontocerebellar Hypoplasia, Type 1d

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 1d:



Diseases related to Pontocerebellar Hypoplasia, Type 1d

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1d

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1d:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 failure to thrive 31 HP:0001508
4 nystagmus 31 HP:0000639
5 high palate 31 HP:0000218
6 short neck 31 HP:0000470
7 respiratory insufficiency 31 HP:0002093
8 global developmental delay 31 HP:0001263
9 hypertelorism 31 HP:0000316
10 recurrent respiratory infections 31 HP:0002205
11 abnormal facial shape 31 HP:0001999
12 microcephaly 31 HP:0000252
13 flexion contracture 31 HP:0001371
14 intrauterine growth retardation 31 HP:0001511
15 low-set ears 31 HP:0000369
16 epicanthus 31 HP:0000286
17 adducted thumb 31 HP:0001181
18 decreased fetal movement 31 HP:0001558
19 fasciculations 31 HP:0002380
20 hyporeflexia 31 HP:0001265
21 oligohydramnios 31 HP:0001562
22 poor head control 31 HP:0002421
23 feeding difficulties 31 HP:0011968
24 cerebellar atrophy 31 HP:0001272
25 weak cry 31 HP:0001612
26 cerebral atrophy 31 HP:0002059
27 generalized hypotonia 31 HP:0001290
28 oral-pharyngeal dysphagia 31 HP:0200136
29 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
poor head control
cerebral atrophy
delayed psychomotor development
cerebellar atrophy, progressive
more
Head And Neck Eyes:
nystagmus
hypertelorism
epicanthal folds
poor or absent fixation
impaired pursuit

Respiratory:
respiratory insufficiency
recurrent respiratory infections

Prenatal Manifestations Movement:
decreased fetal movement

Neurologic Peripheral Nervous System:
hyporeflexia
axonal motor neuronopathy

Head And Neck Head:
poor head control
microcephaly (in 1 patient)

Head And Neck Mouth:
high-arched palate

Skeletal:
joint contractures
arthrogryposis multiple congenita

Head And Neck Face:
dysmorphic facial features (in 1 patient)

Skeletal Feet:
pes cavo-varus

Growth Other:
failure to thrive
poor overall growth
intrauterine growth retardation (iugr)

Head And Neck Neck:
short neck

Head And Neck Ears:
low-set ears

Muscle Soft Tissue:
fasciculations
atrophy
fiber type grouping
type 1 fiber type predominance
neurogenic changes seen on emg
more
Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Voice:
weak cry

Skeletal Hands:
adducted thumbs
clenched fists

Abdomen Gastrointestinal:
poor feeding
difficulty swallowing

Skeletal Limbs:
congenital fractures of the long bones (in 1 patient)

Clinical features from OMIM®:

618065 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia, Type 1d according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.47 EXOSC9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.47 CCNA2 EXOSC9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.47 EXOSC9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.47 CCNA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.47 EXOSC9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 EXOSC9

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 1d

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 1d

Genetic Tests for Pontocerebellar Hypoplasia, Type 1d

Genetic tests related to Pontocerebellar Hypoplasia, Type 1d:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 1d 29 EXOSC9

Anatomical Context for Pontocerebellar Hypoplasia, Type 1d

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 1d:

40
Eye, Skeletal Muscle

Publications for Pontocerebellar Hypoplasia, Type 1d

Articles related to Pontocerebellar Hypoplasia, Type 1d:

# Title Authors PMID Year
1
Expanded PCH1D phenotype linked to EXOSC9 mutation. 57 6 61
30690203 2020
2
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. 6 57
29727687 2018
3
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. 61
33040083 2021

Variations for Pontocerebellar Hypoplasia, Type 1d

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 1d:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXOSC9 NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) SNV Pathogenic 549846 rs372318863 GRCh37: 4:122725873-122725873
GRCh38: 4:121804718-121804718
2 EXOSC9 NM_005033.3(EXOSC9):c.1157-176del Deletion Pathogenic 1030983 GRCh37: 4:122737348-122737348
GRCh38: 4:121816193-121816193
3 CCNA2 , EXOSC9 NM_005033.3(EXOSC9):c.1318T>G (p.Ter440Glu) SNV Pathogenic 1033222 GRCh37: 4:122738009-122738009
GRCh38: 4:121816854-121816854
4 EXOSC9 NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) SNV Conflicting interpretations of pathogenicity 549845 rs139632595 GRCh37: 4:122722620-122722620
GRCh38: 4:121801465-121801465

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 1d:

72
# Symbol AA change Variation ID SNP ID
1 EXOSC9 p.Leu14Pro VAR_081052 rs139632595

Expression for Pontocerebellar Hypoplasia, Type 1d

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 1d.

Pathways for Pontocerebellar Hypoplasia, Type 1d

GO Terms for Pontocerebellar Hypoplasia, Type 1d

Sources for Pontocerebellar Hypoplasia, Type 1d

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