Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Preferred Label : Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;

Symbol : CEDNIK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cednik syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the synaptosomal-associated protein 29kD gene (SNAP29, 604202.0001);

Prefixed ID : #609528;

Details

Origin ID

609528;

UMLS CUI

C1836033;

Automatic exact mappings (from CISMeF team)
- Cerebral dysgenesis – neuropathy – ichthyosis – keratoderma syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- CEDNIK syndrome [Disease (Nov.)]
- CEDNIK syndrome [DO Concept]
- CEDNIK syndrome [ORDO Disease]
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MeSH concept]
- Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) [SNOMED CT concept]
- cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MeSH Supplementary Concept]
DO Cross reference
- CEDNIK syndrome [DO Concept]
Genes related to phenotype
- Synaptosomal-associated protein, 29-kd [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Areflexia [HPO term]
- Aspiration pneumonia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad, flat nasal root [HPO term]
- Cortical dysplasia [HPO term]
- Death in childhood [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Long face [HPO term]
- MRI shows defects of the corpus callosum [HPO term]
- Optic disc hypoplasia [HPO term]
- Pachygyria [HPO term]
- Palmoplantar keratoderma [HPO term]
- Peripheral neuropathy [HPO term]
- Polymicrogyria [HPO term]
- Polyneuropathy [HPO term]
- Poor head control [HPO term]
- Progressive microcephaly [HPO term]
- Sensorineural hearing impairment [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- CEDNIK syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CEDNIK syndrome [ORDO Disease]
- CEDNIK syndrome [DO Concept]
- CEDNIK syndrome [Disease (Nov.)]
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MeSH concept]
- Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) [SNOMED CT concept]
- cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MeSH Supplementary Concept]

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