PCH1F
MCID: PNT058
MIFTS: 14

Pontocerebellar Hypoplasia, Type 1f (PCH1F)

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 1f

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1f:

Name: Pontocerebellar Hypoplasia, Type 1f 57
Pch1f 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
one patient from a consanguineous indian family has been reported (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 619304
OMIM Phenotypic Series 57 PS607596

Summaries for Pontocerebellar Hypoplasia, Type 1f

OMIM® : 57 Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by Somashekar et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (619304) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1f, is also known as pch1f. An important gene associated with Pontocerebellar Hypoplasia, Type 1f is EXOSC1 (Exosome Component 1). Affiliated tissues include eye and brain.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1f

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
cerebral atrophy
delayed myelination
hypotonia
thin corpus callosum
more
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
telecanthus
blue sclerae

Growth Other:
poor overall growth

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Face:
smooth philtrum
retrognathia
long philtrum
tall forehead

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Mouth:
thick vermilion borders of the lips

Clinical features from OMIM®:

619304 (Updated 20-May-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 1f

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

Genetic Tests for Pontocerebellar Hypoplasia, Type 1f

Anatomical Context for Pontocerebellar Hypoplasia, Type 1f

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

40
Eye, Brain

Publications for Pontocerebellar Hypoplasia, Type 1f

Articles related to Pontocerebellar Hypoplasia, Type 1f:

# Title Authors PMID Year
1
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 57
33463720 2021

Variations for Pontocerebellar Hypoplasia, Type 1f

Expression for Pontocerebellar Hypoplasia, Type 1f

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

Pathways for Pontocerebellar Hypoplasia, Type 1f

GO Terms for Pontocerebellar Hypoplasia, Type 1f

Sources for Pontocerebellar Hypoplasia, Type 1f

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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