Tel Hashomer camptodactyly syndrome

Summary

Tel Hashomer camptodactyly syndrome (MONDO:0008901) is a disease. A subtype of skeletal muscle disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe)

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	Tel Hashomer camptodactyly syndrome
Mondo ID	MONDO:0008901
MeSH	C536953
OMIM	211960
Orphanet	3292
SNOMED CT	719946008
UMLS	C1859356
MedGen	347860
GARD	0005128
Is cancer (heuristic)	no

Also known as: Tel Hashomer camptodactyly syndrome

Disease family

This is a subtype of skeletal muscle disorder. 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 body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › Tel Hashomer camptodactyly syndrome

Related subtypes (12): anismus, skeletal muscle neoplasm, Volkmann contracture, myopathy, diaphragm disorder, anterior compartment of tibia syndrome, rotator cuff syndrome, Cyprus facial-neuromusculoskeletal syndrome, muscular dystrophy-white matter spongiosis syndrome, acquired skeletal muscle disease, myotonic syndrome, hereditary skeletal muscle disorder

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.