Absence of fingerprints-congenital milia syndrome

Summary

Absence of fingerprints-congenital milia syndrome (MONDO:0007507) is a disease with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 8
• Phenotypes (HPO): 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		10	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0000963	Thin skin	Very frequent (80-99%)
HP:0001056	Milia	Very frequent (80-99%)
HP:0007477	Abnormal dermatoglyphics	Very frequent (80-99%)
HP:0008066	Abnormal blistering of the skin	Very frequent (80-99%)
HP:0000966	Hypohidrosis	Frequent (30-79%)
HP:0000988	Skin rash	Frequent (30-79%)
HP:0001072	Thickened skin	Frequent (30-79%)
HP:0100490	Camptodactyly of finger	Frequent (30-79%)
HP:0009775	Amniotic constriction ring	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	absence of fingerprints-congenital milia syndrome
Mondo ID	MONDO:0007507
MeSH	C537659
OMIM	129200
Orphanet	1658
DOID	DOID:0080725
ICD-11	1298640608
SNOMED CT	239011004
UMLS	C0406707
MedGen	140808
GARD	0002336
Is cancer (heuristic)	no

Also known as: absence of dermatoglyphics congenital milia · absence of dermatoglyphics-congenital milia syndrome · absence of fingerprints congenital milia · adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities · Baird syndrome · Basan syndrome

Data availability: 8 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › epidermal disease › absence of fingerprints-congenital milia syndrome

Related subtypes (24): porokeratosis, Darier disease, 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, seborrhea-like dermatitis with psoriasiform elements, 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

8 retrieved; paginated sample, class counts are floors:

4 benign, 3 pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1050853	Single allele	LOC129992843	Pathogenic	no assertion criteria provided
187779	NM_020159.5(SMARCAD1):c.1281+667A>T	SMARCAD1	Pathogenic	no assertion criteria provided
30981	NM_020159.5(SMARCAD1):c.1281+665G>T	SMARCAD1	Pathogenic	no assertion criteria provided
3068308	NM_020159.5(SMARCAD1):c.1733-4C>A	SMARCAD1	Uncertain significance	criteria provided, single submitter
1220932	NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala)	SMARCAD1	Benign	criteria provided, multiple submitters, no conflicts
1236001	NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=)	SMARCAD1	Benign	criteria provided, multiple submitters, no conflicts
1259682	NM_020159.5(SMARCAD1):c.1479A>G (p.Gln493=)	SMARCAD1	Benign	criteria provided, multiple submitters, no conflicts
1286948	NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn)	SMARCAD1	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 3 · 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
SMARCAD1	Strong	Autosomal dominant	isolated congenital adermatoglyphia	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SMARCAD1	Orphanet:1658	Absence of fingerprints-congenital milia syndrome
SMARCAD1	Orphanet:289465	Isolated congenital adermatoglyphia
SMARCAD1	Orphanet:384	Huriez 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
SMARCAD1	HGNC:18398	ENSG00000163104	Q9H4L7	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SMARCAD1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1	Protein that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization.

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)
SMARCAD1	Other/Unknown	no		SNF2_N, Helicase_C-like, CUE

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
adrenal tissue	1
ganglionic eminence	1
tibia	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SMARCAD1	245	ubiquitous	marker	adrenal tissue, ganglionic eminence, tibia

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SMARCAD1	2,862

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SMARCAD1	Q9H4L7	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
regulation of DNA recombination	1	4213.0×	7e-04	SMARCAD1
chromosome separation	1	4213.0×	7e-04	SMARCAD1
DNA double-strand break processing	1	1532.0×	0.001	SMARCAD1
heterochromatin formation	1	255.3×	0.006	SMARCAD1
chromatin remodeling	1	73.0×	0.016	SMARCAD1
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	SMARCAD1

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
SMARCAD1	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	SMARCAD1

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)
SMARCAD1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.