Self-healing collodion baby

Summary

Self-healing collodion baby (MONDO:0017267) is a disease with 3 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 3
• Phenotypes (HPO): 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		25	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

2 HPO clinical features (Orphanet curated; top 2 by frequency):

HPO ID	Term	Frequency
HP:0001376	Limitation of joint mobility	Very frequent (80-99%)
HP:0008064	Ichthyosis	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	self-healing collodion baby
Mondo ID	MONDO:0017267
MeSH	C565473
Orphanet	281122
ICD-11	34721911
SNOMED CT	718632004
UMLS	C1855789
MedGen	383772
GARD	0017303
Is cancer (heuristic)	no

Also known as: self-improving congenital ichthyosis · SHCB · SICI

Data availability: 3 GenCC gene-disease records.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › epidermal disease › ichthyosis › inherited ichthyosis › autosomal recessive congenital ichthyosis › self-healing collodion baby

Related subtypes (12): autosomal recessive congenital ichthyosis 1, autosomal recessive congenital ichthyosis 4A, autosomal recessive congenital ichthyosis 11, autosomal recessive congenital ichthyosis 5, autosomal recessive congenital ichthyosis 8, ichthyosis, congenital, autosomal recessive 12, bathing suit ichthyosis, acral self-healing collodion baby, exfoliative ichthyosis, congenital non-bullous ichthyosiform erythroderma, ichthyosis, congenital, autosomal recessive 14, ichthyosis, congenital, autosomal recessive 13

Subtypes (2): autosomal recessive congenital ichthyosis 2, autosomal recessive congenital ichthyosis 3

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

Mendelian disease overlap and somatic drivers

GenCC: 26 · Orphanet: 11 · 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
ALOX12B	Supportive	Autosomal recessive	self-healing collodion baby	8
ALOXE3	Supportive	Autosomal recessive	self-healing collodion baby	8
TGM1	Supportive	Autosomal recessive	self-healing collodion baby	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TGM1	Orphanet:100976	Bathing suit ichthyosis
TGM1	Orphanet:281122	Self-improving collodion baby
TGM1	Orphanet:281127	Acral self-healing collodion baby
TGM1	Orphanet:313	Lamellar ichthyosis
TGM1	Orphanet:79394	Congenital ichthyosiform erythroderma
ALOXE3	Orphanet:281122	Self-improving collodion baby
ALOXE3	Orphanet:313	Lamellar ichthyosis
ALOXE3	Orphanet:79394	Congenital ichthyosiform erythroderma
ALOX12B	Orphanet:281122	Self-improving collodion baby
ALOX12B	Orphanet:313	Lamellar ichthyosis
ALOX12B	Orphanet:79394	Congenital ichthyosiform erythroderma

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TGM1	HGNC:11777	ENSG00000092295	P22735	Protein-glutamine gamma-glutamyltransferase K	gencc
ALOXE3	HGNC:13743	ENSG00000179148	Q9BYJ1	Hydroperoxide isomerase ALOXE3	gencc
ALOX12B	HGNC:430	ENSG00000179477	O75342	Arachidonate 12-lipoxygenase, 12R-type	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TGM1	Protein-glutamine gamma-glutamyltransferase K	Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
ALOXE3	Hydroperoxide isomerase ALOXE3	Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity.
ALOX12B	Arachidonate 12-lipoxygenase, 12R-type	Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species.

Protein-family classification

Druggable: 3 · 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)	2	8.0×	0.039
Antibody/Immunoglobulin	1	9.7×	0.099

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TGM1	Antibody/Immunoglobulin	yes	2.3.2.13	Transglutaminase_N, Transglutaminase-like, Transglutaminase_C
ALOXE3	Enzyme (other)	yes	4.2.1.152	LipOase, PLAT/LH2_dom, LipOase_mml
ALOX12B	Enzyme (other)	yes	1.13.11.31	LipOase, PLAT/LH2_dom, LipOase_mml

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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
skin of leg	3
skin of abdomen	2
zone of skin	2
esophagus mucosa	1
lower esophagus mucosa	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TGM1	135	broad	marker	lower esophagus mucosa, esophagus mucosa, skin of leg
ALOXE3	141	tissue_specific	yes	skin of leg, skin of abdomen, zone of skin
ALOX12B	168	broad	yes	skin of leg, skin of abdomen, zone of skin

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TGM1	1,978
ALOXE3	1,129
ALOX12B	1,126

Intra-cohort edges

A	B	Sources
ALOX12B	ALOXE3	intact
ALOX12B	TGM1	string_interaction
ALOXE3	TGM1	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TGM1	P22735	1
ALOXE3	Q9BYJ1	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ALOX12B	O75342	92.07

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. Enrichment computed across 3 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Synthesis of 12-eicosatetraenoic acid derivatives	2	1087.6×	8e-06	ALOXE3, ALOX12B
Arachidonate metabolism	2	380.7×	3e-05	ALOXE3, ALOX12B
Fatty acid metabolism	2	87.5×	5e-04	ALOXE3, ALOX12B
Metabolism of lipids	2	21.0×	0.006	ALOXE3, ALOX12B
Metabolism	2	7.7×	0.033	ALOXE3, ALOX12B
Formation of the cornified envelope	1	29.3×	0.045	TGM1
Keratinization	1	18.6×	0.060	TGM1
Developmental Biology	1	4.8×	0.194	TGM1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
lipid oxidation	2	1404.3×	6e-06	ALOXE3, ALOX12B
hepoxilin biosynthetic process	2	1404.3×	6e-06	ALOXE3, ALOX12B
lipoxygenase pathway	2	1021.3×	8e-06	ALOXE3, ALOX12B
sphingolipid metabolic process	2	660.9×	2e-05	ALOXE3, ALOX12B
linoleic acid metabolic process	2	468.1×	2e-05	ALOXE3, ALOX12B
arachidonate metabolic process	2	321.0×	4e-05	ALOXE3, ALOX12B
establishment of skin barrier	2	303.6×	4e-05	ALOXE3, ALOX12B
ceramide biosynthetic process	2	280.9×	4e-05	ALOXE3, ALOX12B
cell envelope organization	1	1872.4×	0.001	TGM1
protein lipidation	1	1123.5×	0.002	ALOX12B
positive regulation of mucus secretion	1	1123.5×	0.002	ALOX12B
peroxisome proliferator activated receptor signaling pathway	1	510.7×	0.003	ALOXE3
cornification	1	351.1×	0.005	TGM1
positive regulation of keratinocyte proliferation	1	330.4×	0.005	TGM1
positive regulation of cell cycle	1	147.8×	0.009	TGM1
sensory perception of pain	1	124.8×	0.010	ALOXE3
keratinocyte differentiation	1	82.6×	0.014	TGM1
protein modification process	1	81.4×	0.014	TGM1
fat cell differentiation	1	60.4×	0.018	ALOXE3
positive regulation of MAPK cascade	1	26.9×	0.039	ALOX12B
positive regulation of gene expression	1	12.9×	0.075	ALOX12B

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 3 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TGM1	0	0
ALOXE3	0	0
ALOX12B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

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

Symbol	Assays	Type breakdown
TGM1	11	Binding:11

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TGM1	2.3.2.13	protein-glutamine gamma-glutamyltransferase
ALOXE3	4.2.1.152	hydroperoxy icosatetraenoate dehydratase
ALOX12B	1.13.11.31	arachidonate 12-lipoxygenase

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; 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	2	TGM1, ALOXE3
D	Druggable family + AlphaFold only, no drug	1	ALOX12B
E	Difficult family or no structure, no drug	0

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TGM1	11	—
ALOXE3	0	—
ALOX12B	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.