Seborrhea-like dermatitis with psoriasiform elements

Summary

Seborrhea-like dermatitis with psoriasiform elements (MONDO:0012446) is a disease with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 2
• ClinVar variants: 5

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		44	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	seborrhea-like dermatitis with psoriasiform elements
Mondo ID	MONDO:0012446
MeSH	C565217
OMIM	610227
Orphanet	168606
UMLS	C1853258
MedGen	342832
GARD	0017039
Is cancer (heuristic)	no

Also known as: seborrhea-like dermatitis with psoriasiform elements

Data availability: 5 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › epidermal disease › seborrhea-like dermatitis with psoriasiform elements

Related subtypes (24): porokeratosis, Darier disease, absence of fingerprints-congenital milia syndrome, hyperkeratosis lenticularis perstans, keratolytic winter erythema, Hailey-Hailey disease, VPS13A-related neurodegenerative disease, acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome, keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, psoriasis 14, pustular, palmoplantar pustulosis, hereditary poikiloderma, congenital erosive and vesicular dermatosis, neonatal inflammatory skin and bowel disease, 13q12.3 microdeletion syndrome, zinc-responsive necrolytic acral erythema, keratosis pilaris atrophicans, ichthyosis, erythrokeratoderma, hereditary palmoplantar keratoderma, inherited epidermolysis bullosa, punctate acrokeratoderma freckle-like pigmentation, aquagenic palmoplantar keratoderma, phrynoderma

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:

4 uncertain significance, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1295	NM_024702.3(ZNF750):c.55_56dup (p.Gly20fs)	TBCD	Pathogenic	no assertion criteria provided
1803730	NM_024702.3(ZNF750):c.39_49del (p.His13fs)	TBCD	Uncertain significance	criteria provided, single submitter
3198115	NM_024702.3(ZNF750):c.1610A>G (p.Gln537Arg)	TBCD	Uncertain significance	criteria provided, multiple submitters, no conflicts
3892942	NM_024702.3(ZNF750):c.1846G>A (p.Glu616Lys)	TBCD	Uncertain significance	criteria provided, single submitter
3892943	NM_024702.3(ZNF750):c.926A>G (p.Gln309Arg)	TBCD	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
ZNF750	Moderate	Autosomal dominant	seborrhea-like dermatitis with psoriasiform elements	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ZNF750	Orphanet:168606	Seborrhea-like dermatitis with psoriasiform elements
TBCD	Orphanet:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

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
ZNF750	HGNC:25843	ENSG00000141579	Q32MQ0	Zinc finger protein 750	gencc
TBCD	HGNC:11581	ENSG00000141556	Q9BTW9	Tubulin-specific chaperone D	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF750	Zinc finger protein 750	Transcription factor involved in epidermis differentiation.
TBCD	Tubulin-specific chaperone D	Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly.

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZNF750	Transcription factor	no		ZNF750_Znf, ZNF750
TBCD	Other/Unknown	no		ARM-like, ARM-type_fold, TBCD_C

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gingiva	1
oral cavity	1
penis	1
apex of heart	1
right hemisphere of cerebellum	1
right lobe of thyroid gland	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF750	187	broad	marker	oral cavity, penis, gingiva
TBCD	165	ubiquitous	marker	right lobe of thyroid gland, apex of heart, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TBCD	2,066
ZNF750	898

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TBCD	Q9BTW9	6
ZNF750	Q32MQ0	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Post-chaperonin tubulin folding pathway	1	237.9×	0.015	TBCD
Protein folding	1	129.8×	0.015	TBCD
Generic Transcription Pathway	1	7.5×	0.155	ZNF750
Metabolism of proteins	1	6.2×	0.155	TBCD

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
membrane biogenesis	1	1685.2×	0.004	ZNF750
post-chaperonin tubulin folding pathway	1	1404.3×	0.004	TBCD
positive regulation of ceramide biosynthetic process	1	1203.7×	0.004	ZNF750
tubulin complex assembly	1	842.6×	0.004	TBCD
cell morphogenesis involved in neuron differentiation	1	766.0×	0.004	TBCD
negative regulation of microtubule polymerization	1	648.1×	0.004	TBCD
adherens junction assembly	1	648.1×	0.004	TBCD
negative regulation of cell-substrate adhesion	1	526.6×	0.005	TBCD
establishment of skin barrier	1	227.7×	0.010	ZNF750
negative regulation of epithelial to mesenchymal transition	1	205.5×	0.010	ZNF750
bicellular tight junction assembly	1	165.2×	0.011	TBCD
epidermis development	1	105.3×	0.016	ZNF750
mitotic cell cycle	1	66.9×	0.023	TBCD
microtubule cytoskeleton organization	1	60.6×	0.023	TBCD
protein folding	1	51.7×	0.026	TBCD
positive regulation of gene expression	1	19.4×	0.064	ZNF750
cell differentiation	1	14.6×	0.079	ZNF750
negative regulation of transcription by RNA polymerase II	1	8.9×	0.122	ZNF750
positive regulation of transcription by RNA polymerase II	1	7.4×	0.137	ZNF750
regulation of transcription by RNA polymerase II	1	5.8×	0.164	ZNF750

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ZNF750	0	0
TBCD	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TBCD	1	Binding:1

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	0
E	Difficult family or no structure, no drug	2	ZNF750, TBCD

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)
ZNF750	0	—
TBCD	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.