Ichthyosis, congenital, autosomal recessive 14

Summary

Ichthyosis, congenital, autosomal recessive 14 (MONDO:0033091) is a disease caused by SULT2B1 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: SULT2B1 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ichthyosis, congenital, autosomal recessive 14
Mondo ID	MONDO:0033091
OMIM	617571
DOID	DOID:0080258
UMLS	C4539754
MedGen	1620129
GARD	0016471
Is cancer (heuristic)	no

Also known as: ARCI14 · ichthyosis, congenital, autosomal recessive 14

Data availability: 9 ClinVar variants · 5 GenCC gene-disease records.

Disease family

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 › ichthyosis, congenital, autosomal recessive 14

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, self-healing collodion baby, acral self-healing collodion baby, exfoliative ichthyosis, congenital non-bullous ichthyosiform erythroderma, ichthyosis, congenital, autosomal recessive 13

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

9 retrieved; paginated sample, class counts are floors:

5 pathogenic, 2 benign, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4076976	NM_177973.2(SULT2B1):c.102C>G (p.Tyr34Ter)	SULT2B1	Pathogenic	criteria provided, single submitter
426107	NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu)	SULT2B1	Pathogenic	criteria provided, single submitter
426108	NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln)	SULT2B1	Pathogenic	criteria provided, single submitter
426109	NM_177973.2(SULT2B1):c.364dup (p.Met122fs)	SULT2B1	Pathogenic	criteria provided, single submitter
426110	NM_177973.2(SULT2B1):c.71+2T>A	SULT2B1	Pathogenic	criteria provided, single submitter
633833	NM_177973.2(SULT2B1):c.232G>A (p.Glu78Lys)	SULT2B1	Likely pathogenic	criteria provided, single submitter
633834	NM_177973.2(SULT2B1):c.298C>T (p.Arg100Trp)	SULT2B1	Likely pathogenic	criteria provided, single submitter
1098858	NM_177973.2(SULT2B1):c.637C>T (p.Leu213=)	SULT2B1	Benign	criteria provided, multiple submitters, no conflicts
1265068	NM_177973.2(SULT2B1):c.834C>T (p.Cys278=)	SULT2B1	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · 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
SULT2B1	Strong	Autosomal recessive	ichthyosis, congenital, autosomal recessive 14	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SULT2B1	Orphanet:313	Lamellar ichthyosis
SULT2B1	Orphanet:79394	Congenital ichthyosiform erythroderma

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
SULT2B1	HGNC:11459	ENSG00000088002	O00204	Sulfotransferase 2B1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SULT2B1	Sulfotransferase 2B1	Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation.

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)
SULT2B1	Other/Unknown	no		Sulfotransferase_dom, P-loop_NTPase

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
esophagus mucosa	1
lower esophagus mucosa	1
skin of abdomen	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SULT2B1	198	broad	marker	lower esophagus mucosa, esophagus mucosa, skin of abdomen

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SULT2B1	953

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SULT2B1	O00204	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Cytosolic sulfonation of small molecules	1	519.1×	0.002	SULT2B1

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
positive regulation of epidermal cell differentiation	1	2106.5×	0.002	SULT2B1
3’-phosphoadenosine 5’-phosphosulfate metabolic process	1	1123.5×	0.002	SULT2B1
sulfation	1	1053.2×	0.002	SULT2B1
steroid metabolic process	1	337.0×	0.004	SULT2B1
cholesterol metabolic process	1	195.9×	0.006	SULT2B1
negative regulation of cell population proliferation	1	42.1×	0.024	SULT2B1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SULT2B1	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
SULT2B1	2	ADMET:2

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	SULT2B1

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)
SULT2B1	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.