Berk-Tabatznik syndrome

Summary

Berk-Tabatznik syndrome (MONDO:0021994) is a disease. A subtype of brachydactyly — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Berk-Tabatznik syndrome
Mondo ID	MONDO:0021994
MeSH	C535432
UMLS	C2930899
MedGen	443928
GARD	0005109
Is cancer (heuristic)	no

Also known as: Berk Tabatznik syndrome · cleft nare, brachydactyly, short stature dwarfism · cleft nare, brachydactyly, short stature-dwarfism · congenital optic atrophy and brachytelephalangy · kyphosis brachyphalangy optic atrophy · short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges

Disease family

This is a subtype of brachydactyly. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › brachydactyly › Berk-Tabatznik syndrome

Related subtypes (21): Cooks syndrome, brachydactyly-arterial hypertension syndrome, Ballard syndrome, brachydactyly type A1, brachydactyly type A2, brachydactyly type A3, brachydactyly type A4, Osebold-Remondini syndrome, brachydactyly type C, brachydactyly type D, camptobrachydactyly, brachydactyly type A1B, brachydactyly type A1C, brachydactyly type A1D, non-syndromic brachydactyly, brachydactyly type B, brachydactyly type E, brachydactyly type A5, brachydactyly type A7, brachydactyly type A1A, preaxial digit brachydactyly-webbed fingers

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

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.