PCH1D
MCID: PNT051
MIFTS: 25

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 58 76 6
Pch1d 58 76
Pontocerebellar Hypoplasia 1d 76

Characteristics:

OMIM:

58
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:

33
pontocerebellar hypoplasia, type 1d:
Onset and clinical course progressive


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 1d

OMIM : 58 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)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1d, is also known as pch1d. An important gene associated with Pontocerebellar Hypoplasia, Type 1d is EXOSC9 (Exosome Component 9). Affiliated tissues include brain, eye and bone, and related phenotypes are hypertelorism and nystagmus

UniProtKB/Swiss-Prot : 76 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.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1d

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1d:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 nystagmus 33 HP:0000639
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 hyperreflexia 33 HP:0001347
6 failure to thrive 33 HP:0001508
7 respiratory insufficiency 33 HP:0002093
8 global developmental delay 33 HP:0001263
9 recurrent respiratory infections 33 HP:0002205
10 microcephaly 33 HP:0000252
11 flexion contracture 33 HP:0001371
12 feeding difficulties 33 HP:0011968
13 epicanthus 33 HP:0000286
14 intrauterine growth retardation 33 HP:0001511
15 fasciculations 33 HP:0002380
16 adducted thumb 33 HP:0001181
17 hyporeflexia 33 HP:0001265
18 cerebellar atrophy 33 HP:0001272
19 generalized hypotonia 33 HP:0001290
20 cerebral atrophy 33 HP:0002059
21 poor head control 33 HP:0002421
22 oral-pharyngeal dysphagia 33 HP:0200136

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
nystagmus
epicanthal folds
poor or absent fixation
impaired pursuit

Head And Neck Neck:
short neck

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

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

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

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
hyperreflexia
cerebral atrophy
poor head control
delayed psychomotor development
cerebellar atrophy, progressive
more
Respiratory:
respiratory insufficiency
recurrent respiratory infections

Neurologic Peripheral Nervous System:
hyporeflexia
axonal motor neuronopathy

Prenatal Manifestations Movement:
decreased fetal movement

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

Abdomen Gastrointestinal:
poor feeding
difficulty swallowing

Skeletal Hands:
adducted thumbs
clenched fists

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

Clinical features from OMIM:

618065

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

Anatomical Context for Pontocerebellar Hypoplasia, Type 1d

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

42
Brain, Eye, Bone, Skeletal Muscle

Publications for Pontocerebellar Hypoplasia, Type 1d

Articles related to Pontocerebellar Hypoplasia, Type 1d:

# Title Authors Year
1
Expanded PCH1D phenotype linked to EXOSC9 mutation. ( 30690203 )
2019

Variations for Pontocerebellar Hypoplasia, Type 1d

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

76
# Symbol AA change Variation ID SNP ID
1 EXOSC9 p.Leu14Pro VAR_081052 rs139632595

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXOSC9 NM_001034194.1(EXOSC9): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs139632595 GRCh37 Chromosome 4, 122722620: 122722620
2 EXOSC9 NM_001034194.1(EXOSC9): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs139632595 GRCh38 Chromosome 4, 121801465: 121801465
3 EXOSC9 NM_001034194.1(EXOSC9): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs372318863 GRCh37 Chromosome 4, 122725873: 122725873
4 EXOSC9 NM_001034194.1(EXOSC9): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs372318863 GRCh38 Chromosome 4, 121804718: 121804718

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
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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