Maternal uniparental disomy of chromosome 2

Summary

Maternal uniparental disomy of chromosome 2 (MONDO:0019910) is a disease. A subtype of chromosome 2 disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 28

Clinical features

Signs & symptoms

Clinical features (HPO)

28 HPO clinical features (Orphanet curated; top 28 by frequency):

HPO ID	Term	Frequency
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0001560	Abnormality of the amniotic fluid	Very frequent (80-99%)
HP:0008897	Postnatal growth retardation	Very frequent (80-99%)
HP:0000821	Hypothyroidism	Frequent (30-79%)
HP:0001562	Oligohydramnios	Frequent (30-79%)
HP:0002643	Neonatal respiratory distress	Frequent (30-79%)
HP:0003028	Abnormality of the ankles	Frequent (30-79%)
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	Frequent (30-79%)
HP:0005781	Contractures of the large joints	Frequent (30-79%)
HP:0000041	Chordee	Occasional (5-29%)
HP:0000047	Hypospadias	Occasional (5-29%)
HP:0000083	Renal insufficiency	Occasional (5-29%)
HP:0000110	Renal dysplasia	Occasional (5-29%)
HP:0000546	Retinal degeneration	Occasional (5-29%)
HP:0000824	Decreased response to growth hormone stimulation test	Occasional (5-29%)
HP:0001177	Preaxial hand polydactyly	Occasional (5-29%)
HP:0001622	Premature birth	Occasional (5-29%)
HP:0001763	Pes planus	Occasional (5-29%)
HP:0002089	Pulmonary hypoplasia	Occasional (5-29%)
HP:0002652	Skeletal dysplasia	Occasional (5-29%)
HP:0002721	Immunodeficiency	Occasional (5-29%)
HP:0004209	Clinodactyly of the 5th finger	Occasional (5-29%)
HP:0004880	Respiratory infections in early life	Occasional (5-29%)
HP:0005268	Spontaneous abortion	Occasional (5-29%)
HP:0008209	Premature ovarian insufficiency	Occasional (5-29%)
HP:0008440	C1-C2 vertebral abnormality	Occasional (5-29%)
HP:0008689	Bilateral cryptorchidism	Occasional (5-29%)
HP:0001263	Global developmental delay	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	maternal uniparental disomy of chromosome 2
Mondo ID	MONDO:0019910
Orphanet	96179
ICD-11	2067230711
SNOMED CT	766237006
UMLS	C4707718
MedGen	1631626
GARD	0019331
Is cancer (heuristic)	no

Also known as: maternal uniparental disomy of chromosome type 2 · UPD(2)mat

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 2 disorder › maternal uniparental disomy of chromosome 2

Related subtypes (4): mosaic trisomy 2, partial deletion of chromosome 2, partial duplication of chromosome 2, ring chromosome 2

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.