Maternal 14q32.2 hypermethylation syndrome

Summary

Maternal 14q32.2 hypermethylation syndrome (MONDO:0016783) is a disease. A subtype of multiple congenital anomalies due to 14q32.2 maternally expressed gene defect — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 19

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		7	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

19 HPO clinical features (Orphanet curated; top 19 by frequency):

HPO ID	Term	Frequency
HP:0001256	Intellectual disability, mild	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001561	Polyhydramnios	Very frequent (80-99%)
HP:0005257	Thoracic hypoplasia	Very frequent (80-99%)
HP:0006267	Large placenta	Very frequent (80-99%)
HP:0006665	Coat hanger sign of ribs	Very frequent (80-99%)
HP:0008872	Feeding difficulties in infancy	Very frequent (80-99%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001520	Large for gestational age	Frequent (30-79%)
HP:0001540	Diastasis recti	Frequent (30-79%)
HP:0002033	Poor suck	Frequent (30-79%)
HP:0008897	Postnatal growth retardation	Frequent (30-79%)
HP:0001518	Small for gestational age	Occasional (5-29%)
HP:0001537	Umbilical hernia	Occasional (5-29%)
HP:0001539	Omphalocele	Occasional (5-29%)
HP:0001548	Overgrowth	Occasional (5-29%)
HP:0001627	Abnormal heart morphology	Occasional (5-29%)
HP:0001629	Ventricular septal defect	Occasional (5-29%)
HP:0002194	Delayed gross motor development	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	maternal 14q32.2 hypermethylation syndrome
Mondo ID	MONDO:0016783
Orphanet	254534
UMLS	C5680720
MedGen	1843365
GARD	0017223
Is cancer (heuristic)	no

Disease family

This is a subtype of multiple congenital anomalies due to 14q32.2 maternally expressed gene defect. 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 developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › multiple congenital anomalies/dysmorphic syndrome › multiple congenital anomalies/dysmorphic syndrome-intellectual disability › multiple congenital anomalies due to 14q32.2 maternally expressed gene defect › maternal 14q32.2 hypermethylation syndrome

Related subtypes (2): paternal uniparental disomy of chromosome 14, maternal 14q32.2 microdeletion syndrome

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.