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 57 75 6
Pch1d 57 75
Pontocerebellar Hypoplasia 1d 75

Characteristics:

OMIM:

57
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:

32
pontocerebellar hypoplasia, type 1d:
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)

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 eye, brain and bone, and related phenotypes are hypertelorism and nystagmus

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1d:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 nystagmus 32 HP:0000639
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 hyperreflexia 32 HP:0001347
6 failure to thrive 32 HP:0001508
7 respiratory insufficiency 32 HP:0002093
8 global developmental delay 32 HP:0001263
9 recurrent respiratory infections 32 HP:0002205
10 microcephaly 32 HP:0000252
11 flexion contracture 32 HP:0001371
12 feeding difficulties 32 HP:0011968
13 epicanthus 32 HP:0000286
14 intrauterine growth retardation 32 HP:0001511
15 fasciculations 32 HP:0002380
16 adducted thumb 32 HP:0001181
17 hyporeflexia 32 HP:0001265
18 cerebellar atrophy 32 HP:0001272
19 generalized hypotonia 32 HP:0001290
20 cerebral atrophy 32 HP:0002059
21 poor head control 32 HP:0002421
22 oral-pharyngeal dysphagia 32 HP:0200136

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:

41
Eye, Brain, Bone, Skeletal Muscle

Publications for Pontocerebellar Hypoplasia, Type 1d

Variations for Pontocerebellar Hypoplasia, Type 1d

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 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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