Hypotrichosis 7
diseaseOn this page
Also known as alopecia universalis congenita, Mari typehypotrichosis caused by mutation in LIPHhypotrichosis type 7hypotrichosis, localized, autosomal recessive 2HYPT7LAH2LIPH hypotrichosisMari type alopecia universalis congenitatotal hypotrichosis, Mari typetotal Mari type hypotrichosis,woolly hair, autosomal recessive 2 with or without hypotrichosiswoolly hair, autosomal recessive 2, with or without hypotrichosiswooly hair, autosomal recessive 2 with or without hypotrichosis
Summary
Hypotrichosis 7 (MONDO:0011452) is a disease caused by LIPH (GenCC Definitive), with 1 cohort gene.
At a glance
- Causal gene: LIPH (GenCC Definitive)
- Cohort genes: 1
- ClinVar variants: 14
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hypotrichosis 7 |
| Mondo ID | MONDO:0011452 |
| MeSH | C536973 |
| OMIM | 604379 |
| DOID | DOID:0110704 |
| UMLS | C1836672 |
| MedGen | 322969 |
| GARD | 0008178 |
| Is cancer (heuristic) | no |
Also known as: alopecia universalis congenita, Mari type · hypotrichosis 7 · hypotrichosis caused by mutation in LIPH · hypotrichosis type 7 · hypotrichosis, localized, autosomal recessive 2 · HYPT7 · LAH2 · Lah2 · LIPH hypotrichosis · Mari type alopecia universalis congenita · total hypotrichosis, Mari type · total Mari type hypotrichosis, · woolly hair, autosomal recessive 2 with or without hypotrichosis · woolly hair, autosomal recessive 2, with or without hypotrichosis · wooly hair, autosomal recessive 2 with or without hypotrichosis
Data availability: 14 ClinVar variants · 3 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 › hypotrichosis 7
Related subtypes (18): hypotrichosis of eyelid, hypotrichosis 2, hypotrichosis 8, congenital hypotrichosis with juvenile macular dystrophy, hypotrichosis 1, hypotrichosis 6, hypotrichosis 3, hypotrichosis 9, hypotrichosis 10, hypotrichosis 11, hypotrichosis 12, hypotrichosis 13, Marie Unna hereditary hypotrichosis, Basaran Yilmaz syndrome, congenital hypotrichosis milia, hypotrichosis 14, hypotrichosis 15, hypotrichosis 16
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
14 retrieved; paginated sample, class counts are floors:
5 pathogenic, 4 uncertain significance, 3 pathogenic/likely pathogenic, 2 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 225403 | NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) | LIPH | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 280138 | NM_139248.3(LIPH):c.328C>T (p.Arg110Ter) | LIPH | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 30669 | NM_139248.3(LIPH):c.742C>A (p.His248Asn) | LIPH | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3301 | NG_012183.1:g.(2711_2742)_(3942_3973)del | LIPH | Pathogenic | no assertion criteria provided |
| 3302 | NM_139248.3(LIPH):c.346_350del (p.Ile116fs) | LIPH | Pathogenic | no assertion criteria provided |
| 3303 | NM_139248.3(LIPH):c.659_660del (p.Ile220fs) | LIPH | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3304 | NM_139248.3(LIPH):c.886+405_1094+962del | LIPH | Pathogenic | no assertion criteria provided |
| 3306 | NM_139248.3(LIPH):c.280_369dup (p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys) | LIPH | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3391346 | NM_139248.3(LIPH):c.263del (p.Met88fs) | LIPH | Likely pathogenic | criteria provided, single submitter |
| 3775180 | NM_139248.3(LIPH):c.686delinsGTAGAACCCAACCTGGCT (p.Asp229fs) | LIPH | Likely pathogenic | criteria provided, single submitter |
| 3064369 | NM_139248.3(LIPH):c.899A>C (p.Asp300Ala) | LIPH | Uncertain significance | criteria provided, single submitter |
| 3359263 | NM_139248.3(LIPH):c.482G>A (p.Gly161Glu) | LIPH | Uncertain significance | criteria provided, single submitter |
| 3891578 | NM_139248.3(LIPH):c.614A>G (p.His205Arg) | LIPH | Uncertain significance | criteria provided, single submitter |
| 4073584 | NM_139248.3(LIPH):c.1301_1302insA (p.Met434fs) | LIPH | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 2 · 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 |
|---|---|---|---|---|
| LIPH | Definitive | Autosomal recessive | hypotrichosis 7 | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| LIPH | Orphanet:170 | Woolly hair |
| LIPH | Orphanet:55654 | Hypotrichosis simplex |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| LIPH | HGNC:18483 | ENSG00000163898 | Q8WWY8 | Lipase member H | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| LIPH | Lipase member H | Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
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 | 12.0× | 0.083 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| LIPH | Enzyme (other) | yes | 3.1.1.32 | TAG_lipase, Lipase, Lipase_LIPH |
Expression context
Cohort genes with no expression data: 0.
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 | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| buccal mucosa cell | 1 |
| pancreatic ductal cell | 1 |
| rectum | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| LIPH | 187 | broad | marker | buccal mucosa cell, rectum, pancreatic ductal cell |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| LIPH | 635 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| LIPH | Q8WWY8 | 90.89 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 5. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Glycerophospholipid biosynthesis | 1 | 335.9× | 0.008 | LIPH |
| Synthesis of PA | 1 | 292.8× | 0.008 | LIPH |
| Phospholipid metabolism | 1 | 200.3× | 0.008 | LIPH |
| Metabolism of lipids | 1 | 31.6× | 0.040 | LIPH |
| Metabolism | 1 | 11.6× | 0.086 | LIPH |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| phosphatidic acid biosynthetic process | 1 | 510.7× | 0.004 | LIPH |
| lipid catabolic process | 1 | 244.2× | 0.004 | LIPH |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 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 |
|---|---|---|
| LIPH | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| LIPH | 3.1.1.32 | phospholipase A1 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; 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 | LIPH |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| LIPH | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: LIPH