Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease

Preferred Label : Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease;

Symbol : PCWH;

CISMeF acronym : PCWH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg-shah syndrome, neurologic variant;

Description : The neurologic variant of Waardenburg-Shah syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box-10 gene (SOX10, 602229.0006);

Prefixed ID : #609136;

Details

Origin ID

609136;

UMLS CUI

C1836727;

Automatic exact mappings (from CISMeF team)
- SOX10 wt Allele [NCIt concept]
- Waardenburg-Shah syndrome, neurologic variant [ICD-11 More detail]
Currated CISMeF NLP mapping
- PCWH syndrome [DO Concept]
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) [SNOMED CT concept]
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH concept]
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH Supplementary Concept]
DO Cross reference
- PCWH syndrome [DO Concept]
Genes related to phenotype
- Sry-box 10 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Absent brainstem auditory responses [HPO term]
- Aganglionic megacolon [HPO term]
- Alacrima [HPO term]
- Anosmia [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral dysmyelination [HPO term]
- Coma [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Decreased lacrimation [HPO term]
- Decreased myenteric and submucosal ganglia in the bowel [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Demyelinating peripheral neuropathy [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Dysmyelinating leukodystrophy [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hepatosplenomegaly [HPO term]
- Heterochromia iridis [HPO term]
- Hypohidrosis [HPO term]
- Hypopigmented skin patches [HPO term]
- Hypoplasia of the semicircular canal [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Ileus [HPO term]
- Intellectual disability [HPO term]
- Long-segment aganglionic megacolon [HPO term]
- Myelin outfoldings [HPO term]
- Myoclonus [HPO term]
- Myopia [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Peripheral demyelination [HPO term]
- Peripheral hypomyelination [HPO term]
- Pes cavus [HPO term]
- Portal hypertension [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short-segment aganglionic megacolon [HPO term]
- Spastic paraparesis [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Sural nerve biopsy shows excessive focal folding of myelin sheaths [HPO term]
- Torticollis [HPO term]
- White eyebrow [HPO term]
- White eyelashes [HPO term]
- White forelock [HPO term]
ORDO concept(s)
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) [SNOMED CT concept]
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH Supplementary Concept]
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH concept]

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