Maternal uniparental disomy of chromosome 1

Summary

Maternal uniparental disomy of chromosome 1 (MONDO:0016651) is a disease. A subtype of chromosome 1 disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 29

Clinical features

Signs & symptoms

Clinical features (HPO)

29 HPO clinical features (Orphanet curated; top 29 by frequency):

HPO ID	Term	Frequency
HP:0000319	Smooth philtrum	Frequent (30-79%)
HP:0000365	Hearing impairment	Frequent (30-79%)
HP:0000518	Cataract	Frequent (30-79%)
HP:0000639	Nystagmus	Frequent (30-79%)
HP:0000717	Autism	Frequent (30-79%)
HP:0000954	Single transverse palmar crease	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001319	Neonatal hypotonia	Frequent (30-79%)
HP:0001476	Delayed closure of the anterior fontanelle	Frequent (30-79%)
HP:0001508	Failure to thrive	Frequent (30-79%)
HP:0001510	Growth delay	Frequent (30-79%)
HP:0001876	Pancytopenia	Frequent (30-79%)
HP:0001883	Talipes	Frequent (30-79%)
HP:0002020	Gastroesophageal reflux	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0002191	Progressive spasticity	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0002714	Downturned corners of mouth	Frequent (30-79%)
HP:0002719	Recurrent infections	Frequent (30-79%)
HP:0002813	Abnormality of limb bone morphology	Frequent (30-79%)
HP:0003139	Panhypogammaglobulinemia	Frequent (30-79%)
HP:0004322	Short stature	Frequent (30-79%)
HP:0007272	Progressive psychomotor deterioration	Frequent (30-79%)
HP:0008066	Abnormal blistering of the skin	Frequent (30-79%)
HP:0009909	Uplifted earlobe	Frequent (30-79%)
HP:0010655	Epiphyseal stippling	Frequent (30-79%)
HP:0011968	Feeding difficulties	Frequent (30-79%)
HP:0100651	Type I diabetes mellitus	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	maternal uniparental disomy of chromosome 1
Mondo ID	MONDO:0016651
Orphanet	251009
ICD-11	351448323
UMLS	C4749302
MedGen	1665577
GARD	0020689
Is cancer (heuristic)	no

Also known as: maternal uniparental disomy of chromosome type 1 · UPD(1)mat

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 1 disorder › maternal uniparental disomy of chromosome 1

Related subtypes (6): ring chromosome 1, mosaic trisomy 1, paternal uniparental disomy of chromosome 1, partial deletion of chromosome 1, partial duplication of chromosome 1, chromosome 1, uniparental disomy 1q12 q21

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.