Pontocerebellar hypoplasia, type 3

Preferred Label : Pontocerebellar hypoplasia, type 3;

Symbol : PCH3;

CISMeF acronym : CLAM; PCH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CLAM; Cerebellar atrophy with progressive microcephaly; Pch with optic atrophy;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the mouse piccolo gene (PCLO, 604918.0001);

Prefixed ID : #608027;

Details

Origin ID

608027;

UMLS CUI

C1842687;

Automatic exact mappings (from CISMeF team)
- Clam (substance) [SNOMED CT concept]
- cerebellar atrophy with progressive microcephaly [HGNC gene]
CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 3 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar Hypoplasia Type 3 [MeSH concept]
- Pontocerebellar hypoplasia type 3 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
- pontocerebellar hypoplasia type 3 [DO Concept]
- pontocerebellar hypoplasia type 3 [MeSH Supplementary Concept]
DO Cross reference
- pontocerebellar hypoplasia type 3 [DO Concept]
False automatic mappings
- Clam [NCIt concept]
- Clam (organism) [SNOMED CT concept]
- bivalvia [MeSH Descriptor]
- clam, nos [SNOMED Notion]
- clams [MeSH concept]
Genes related to phenotype
- Piccolo presynaptic cytomatrix protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Decreased body weight [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the pons [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Neonatal hypotonia [HPO term]
- Optic atrophy [HPO term]
- Pontocerebellar hypoplasia [HPO term]
- Poor head control [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 3 (disorder) [SNOMED CT concept]
- Pontocerebellar Hypoplasia Type 3 [MeSH concept]
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
- pontocerebellar hypoplasia type 3 [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 3 [DO Concept]

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