Hypotrichosis 4
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Also known as hypotrichosis type 4hypotrichosis, Marie Unna type, 1HYPT4Marie Unna hereditary hypotrichosis 1MUHH1
Summary
Hypotrichosis 4 (MONDO:0100522) is a disease caused by HR (GenCC Strong), with 2 cohort genes.
At a glance
- Causal gene: HR (GenCC Strong)
- Cohort genes: 2
- ClinVar variants: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hypotrichosis 4 |
| Mondo ID | MONDO:0100522 |
| MeSH | C567718 |
| OMIM | 146550 |
| DOID | DOID:0110701 |
| UMLS | C2750815 |
| MedGen | 413053 |
| GARD | 0015078 |
| Is cancer (heuristic) | no |
Also known as: hypotrichosis 4 · hypotrichosis type 4 · hypotrichosis, Marie Unna type, 1 · HYPT4 · Marie Unna hereditary hypotrichosis 1 · MUHH1
Data availability: 5 ClinVar variants · 2 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hypotrichosis › Marie Unna hereditary hypotrichosis › hypotrichosis 4
Related subtypes (1): hypotrichosis 5
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
ClinVar germline variants
5 retrieved; paginated sample, class counts are floors:
5 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 7341 | NC_000008.11:g.22130707A>G | HR | Pathogenic | no assertion criteria provided |
| 7342 | NC_000008.11:g.22130702G>A | HR | Pathogenic | no assertion criteria provided |
| 7343 | NC_000008.11:g.22130636G>C | HR | Pathogenic | no assertion criteria provided |
| 7344 | NC_000008.11:g.22130605T>C | HR | Pathogenic | no assertion criteria provided |
| 830233 | NC_000008.11:g.22130706C>T | HR | Pathogenic | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 11 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| HR | Strong | Autosomal dominant | hypotrichosis 4 | 10 |
| HRURF | Moderate | Autosomal dominant | hypotrichosis 4 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| HR | Orphanet:444 | Marie Unna hereditary hypotrichosis |
| HR | Orphanet:701 | Alopecia universalis |
| HR | Orphanet:86819 | Atrichia with papular lesions |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| HR | HGNC:5172 | ENSG00000168453 | O43593 | Lysine-specific demethylase hairless | gencc,clinvar |
| HRURF | HGNC:55085 | ENSG00000288677 | P0DUH7 | Protein HRURF | gencc |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| HR | Lysine-specific demethylase hairless | Histone demethylase that specifically demethylates both mono- and dimethylated ‘Lys-9’ of histone H3. |
| HRURF | Protein HRURF | May function as an inhibitory translational control element that can negatively regulate protein translation of HR gene. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Enzyme (other) | 1 | 6.0× | 0.320 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| HR | Enzyme (other) | yes | 1.14.11.65 | JmjC_dom, LSDs-like |
| HRURF | Other/Unknown | no |
Expression context
Cohort genes with no expression data: 1.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 1 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| skin of abdomen | 1 |
| skin of leg | 1 |
| zone of skin | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| HR | 235 | broad | marker | skin of abdomen, skin of leg, zone of skin |
| HRURF |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| HR | 559 |
| HRURF | 0 |
Structural data
PDB: 0 · AlphaFold-only: 2 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| HRURF | P0DUH7 | 75.96 |
| HR | O43593 | 55.65 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 evidence-associated genes (0 with Reactome annotation).
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of translation | 1 | 109.4× | 0.018 | HRURF |
| regulation of transcription by RNA polymerase II | 1 | 5.8× | 0.164 | HR |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 0 of 2 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| HR | 0 | 0 |
| HRURF | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| HR | 1.14.11.65 | [histone H3]-dimethyl-L-lysine9 demethylase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 1 | HR |
| E | Difficult family or no structure, no drug | 1 | HRURF |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| HR | 0 | — |
| HRURF | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.