Antenatal multiminicore disease with arthrogryposis multiplex congenita

Summary

Antenatal multiminicore disease with arthrogryposis multiplex congenita (MONDO:0015794) is a disease. A subtype of multiminicore myopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 21

Clinical features

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0000028	Cryptorchidism	Frequent (30-79%)
HP:0000218	High palate	Frequent (30-79%)
HP:0000268	Dolichocephaly	Frequent (30-79%)
HP:0000369	Low-set ears	Frequent (30-79%)
HP:0000426	Prominent nasal bridge	Frequent (30-79%)
HP:0000465	Webbed neck	Frequent (30-79%)
HP:0000470	Short neck	Frequent (30-79%)
HP:0000954	Single transverse palmar crease	Frequent (30-79%)
HP:0001371	Flexion contracture	Frequent (30-79%)
HP:0001591	Bell-shaped thorax	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0002194	Delayed gross motor development	Frequent (30-79%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0002792	Reduced vital capacity	Frequent (30-79%)
HP:0002804	Arthrogryposis multiplex congenita	Frequent (30-79%)
HP:0003327	Axial muscle weakness	Frequent (30-79%)
HP:0003789	Minicore myopathy	Frequent (30-79%)
HP:0008050	Abnormality of the palpebral fissures	Frequent (30-79%)
HP:0030084	Clinodactyly	Frequent (30-79%)
HP:0100297	Increased endomysial connective tissue	Frequent (30-79%)
HP:0002808	Kyphosis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	antenatal multiminicore disease with arthrogryposis multiplex congenita
Mondo ID	MONDO:0015794
Orphanet	178148
UMLS	C1843691
MedGen	334470
GARD	0020143
Is cancer (heuristic)	no

Also known as: multicore myopathy, antenatal onset, with arthrogryposis · multiminicore myopathy, antenatal onset, with arthrogryposis

Disease family

This is a subtype of multiminicore myopathy. 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 › nervous system disorder › qualitative or quantitative protein defects in neuromuscular diseases › neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 › multiminicore myopathy › antenatal multiminicore disease with arthrogryposis multiplex congenita

Related subtypes (4): congenital multicore myopathy with external ophthalmoplegia, rigid spine muscular dystrophy 1, moderate multiminicore disease with hand involvement, classic multiminicore myopathy

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.