Cervical hypertrichosis-peripheral neuropathy syndrome
diseaseOn this page
Also known as cervical hypertrichosis peripheral neuropathyhypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
Summary
Cervical hypertrichosis-peripheral neuropathy syndrome (MONDO:0009405) is a disease. A subtype of hypertrichosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 6
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 4 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
6 HPO clinical features (Orphanet curated; top 6 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001305 | Dandy-Walker malformation | Very frequent (80-99%) |
| HP:0002230 | Generalized hirsutism | Very frequent (80-99%) |
| HP:0003457 | EMG abnormality | Very frequent (80-99%) |
| HP:0002754 | Osteomyelitis | Frequent (30-79%) |
| HP:0040165 | Periostitis | Frequent (30-79%) |
| HP:0200042 | Skin ulcer | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cervical hypertrichosis-peripheral neuropathy syndrome |
| Mondo ID | MONDO:0009405 |
| MeSH | C565492 |
| OMIM | 239840 |
| Orphanet | 2218 |
| UMLS | C1855902 |
| MedGen | 341004 |
| GARD | 0001226 |
| Is cancer (heuristic) | no |
Also known as: cervical hypertrichosis peripheral neuropathy · hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
Disease family
This is a subtype of hypertrichosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hypertrichosis › cervical hypertrichosis-peripheral neuropathy syndrome
Related subtypes (10): hypertrichosis of eyelid, gingival fibromatosis-hypertrichosis syndrome, hypertrichosis cubiti-short stature syndrome, cataract-hypertrichosis-intellectual disability syndrome, Rabson-Mendenhall syndrome, isolated anterior cervical hypertrichosis, acquired hypertrichosis lanuginosa, hypertrichosis lanuginosa congenita, autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, hypertrichosis-acromegaloid facial appearance syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.