Exfoliative dermatitis

Summary

Exfoliative dermatitis (MONDO:0043233) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	exfoliative dermatitis
Mondo ID	MONDO:0043233
EFO	EFO:0009456
MeSH	D003873
ICD-10-CM	L26
NCIT	C39646
SNOMED CT	399992009
UMLS	C0011606
MedGen	3767
Is cancer (heuristic)	no

Also known as: Dermatitides, exfoliative · dermatitis exfoliativa · erythroderma · Erythrodermas · exfoliative Dermatitides · exfoliative dermatitis

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › exfoliative dermatitis

Related subtypes (32): spongiotic dermatitis, atopic eczema, psoriasis, contact dermatitis, urticaria, acneiform dermatitis, acrodermatitis, folliculitis, granuloma annulare, granulomatous dermatitis, lichen planus, neurodermatitis, neurotic excoriation, parapsoriasis, pityriasis rosea, seborrheic dermatitis, acanthosis nigricans, dermatosis papulosa nigra, lichen sclerosus et atrophicus, vitiligo, acne, porphyria cutanea tarda, dermatomyositis, acute generalized exanthematous pustulosis, hydroa vacciniforme, autoimmune bullous skin disease, cutaneous vasculitis, skin infection, intertrigo, lipodermatosclerosis, radiodermatitis, food dermatitis

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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
372516	NM_006846.4(SPINK5):c.1431-12G>A	SPINK5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
374066	NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	SPINK5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SPINK5	Orphanet:634	Netherton syndrome

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
SPINK5	HGNC:15464	ENSG00000133710	Q9NQ38	Serine protease inhibitor Kazal-type 5	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SPINK5	Serine protease inhibitor Kazal-type 5	Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SPINK5	Other/Unknown	no		Kazal_dom, Kazal_dom_sf, Kazal-type_SerProtInhib

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
cervix squamous epithelium	1
lower esophagus mucosa	1
tongue squamous epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SPINK5	203	tissue_specific	marker	tongue squamous epithelium, cervix squamous epithelium, lower esophagus mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SPINK5	1,197

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SPINK5	Q9NQ38	6

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
Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin	1	278.5×	0.011	SPINK5
Developmental Cell Lineages	1	223.9×	0.011	SPINK5
Formation of the cornified envelope	1	87.8×	0.019	SPINK5
Keratinization	1	55.7×	0.022	SPINK5
Developmental Biology	1	14.5×	0.069	SPINK5

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
negative regulation of antibacterial peptide production	1	16852.0×	7e-04	SPINK5
regulation of timing of anagen	1	8426.0×	7e-04	SPINK5
hair cell differentiation	1	2106.5×	0.002	SPINK5
epidermal cell differentiation	1	1685.2×	0.002	SPINK5
regulation of T cell differentiation	1	1203.7×	0.002	SPINK5
negative regulation of immune response	1	1053.2×	0.002	SPINK5
negative regulation of proteolysis	1	674.1×	0.003	SPINK5
regulation of cell adhesion	1	306.4×	0.005	SPINK5
epithelial cell differentiation	1	175.5×	0.007	SPINK5
negative regulation of angiogenesis	1	168.5×	0.007	SPINK5
extracellular matrix organization	1	122.1×	0.009	SPINK5
cell differentiation	1	29.1×	0.034	SPINK5

Therapeutics

Drugs indicated for this disease

4 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Cortisone Acetate	Approved (phase 4)
Dexamethasone	Approved (phase 4)
Prednisolone	Approved (phase 4)
Prednisone	Approved (phase 4)

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
SPINK5	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	0
E	Difficult family or no structure, no drug	1	SPINK5

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)
SPINK5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.