ORPHA:163746
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Synonyms: Neurologic Waardenburg-Shah syndrome · PCWH · WS4 plus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | Neurologic Waardenburg-Shah syndrome · PCWH · WS4 plus |
| fr | Syndrome de neuropathie périphérique-leucodystrophie centrale dysmyélinisante-syndrome de Waardenburg-maladie de Hirschsprung | PCWH · Syndrome de Waardenburg-Shah variante neurologique · WS4 plus |
| de | Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit | PCWH · WS4 plus · Waardenburg-Shah-Syndrom, neurologische Variante |
| es | Neuropatía periférica desmielinizante-leucodistrofia desmielinizante central-síndrome de Waardenburg-enfermedad de Hirschsprung | |
| it | Neuropatia periferica demielinizzante-leucodistrofia centrale demielinizzante-sindrome di Waardenburg-malattia di Hirschsprung | WS4 plus |
| nl | Perifere demyeliniserende neuropathie - centrale dysmyeliniserende leukodystrofie - syndroom van Waardenburg - ziekte van Hirschsprung | Neurologisch syndroom van Waardenburg-Shah · PCWH · WS4 plus |
| pt | Síndrome de Waardenburg-Shah, variante neurológica | |
| pl | Zespół neurologiczny Waardenburga i Shaha | Obwodowa neuropatia demielinizująca- ośrodkowa leukodystrofia demielinizująca - zespół Waardenburga - choroba Hirschsprunga · PCWH · WS4 plus · WS4"plus |
| cs | Neurologický Waardenburgův-Shahův syndrom | PCWH · WS4 plus · Syndrom zahrnující periferní demyelinizační neuropati, centrální dysmyelinizační leukodystrofii, Hirschsprungovu nemoc a Waardenburgův syndrom · Neurologický Waardenburg-Shahův syndrom |
| uk | Периферична демієлінізуюча нейропатія - центральна дисмієлінізуюча лейкодистрофія - синдром Ваарденбурга - хвороба Гіршпрунга | Неврологічний синдром Ваарденбурга-Шаха · PCWH · WS4 plus |
| zh | 外周脱髓鞘病变，中枢髓鞘形成障碍，Waardenburg综合征和Hirschsprung病 | 神经性Waardenburg-Shah综合征 |
| tr | Periferik demiyelinizan nöropati-merkezi dismiyelinizan lökodistrofi-Waardenburg sendromu-Hirschsprung hastalığı | PCWH · WS4 artı · Nörolojik Waardenburg-Shah sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609136 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0012198 | E | validated | |
| MeSH | C563789 | E | validated | |
| UMLS | C1836727 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:11190 | ENSG00000100146 | 602229 | 22q13.1 | SRY-box transcription factor 10 | 22963253[PMID]_24311220[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | Dr Véronique PINGAULT[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
36 annotations · validated 2024-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001251 | Ataxia | |
| HP:0002019 | Constipation | |
| HP:0001263 | Global developmental delay | |
| HP:0001100 | Heterochromia iridis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001252 | Hypotonia | |
| HP:0002595 | Ileus | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000635 | Blue irides | |
| HP:0000633 | Decreased lacrimation | |
| HP:0006978 | Dysmyelinating leukodystrophy | |
| HP:0000135 | Hypogonadism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0004388 | Microcolon | |
| HP:0002216 | Premature graying of hair | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000664 | Synophrys | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002211 | White forelock | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0011675 | Arrhythmia | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0002240 | Hepatomegaly | |
| HP:0000966 | Hypohidrosis | |
| HP:0001744 | Splenomegaly | |
| HP:0001337 | Tremor | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 38854277[PMID]_35725288[PMID]_30559775[PMID]_16504559[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163746
- This record as JSON: /data/d/163746.json