maternal uniparental disomy of chromosome X

Summary

maternal uniparental disomy of chromosome X (MONDO:0016851) is a disease. A subtype of chromosome X disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 26

Clinical features

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000233	Thin vermilion border	Very frequent (80-99%)
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000470	Short neck	Very frequent (80-99%)
HP:0000914	Shield chest	Very frequent (80-99%)
HP:0001010	Hypopigmentation of the skin	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001250	Seizure	Very frequent (80-99%)
HP:0001274	Agenesis of corpus callosum	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001371	Flexion contracture	Very frequent (80-99%)
HP:0001399	Hepatic failure	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0001635	Congestive heart failure	Very frequent (80-99%)
HP:0001838	Rocker bottom foot	Very frequent (80-99%)
HP:0002162	Low posterior hairline	Very frequent (80-99%)
HP:0002650	Scoliosis	Very frequent (80-99%)
HP:0002916	Abnormality of chromosome segregation	Very frequent (80-99%)
HP:0002967	Cubitus valgus	Very frequent (80-99%)
HP:0003186	Inverted nipples	Very frequent (80-99%)
HP:0003550	Predominantly lower limb lymphedema	Very frequent (80-99%)
HP:0005280	Depressed nasal bridge	Very frequent (80-99%)
HP:0008193	Primary gonadal insufficiency	Very frequent (80-99%)
HP:0100490	Camptodactyly of finger	Very frequent (80-99%)
HP:0000027	Azoospermia	Frequent (30-79%)
HP:0000062	Ambiguous genitalia	Frequent (30-79%)
HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	maternal uniparental disomy of chromosome X
Mondo ID	MONDO:0016851
Orphanet	261519
ICD-11	573923144
UMLS	C5191056
MedGen	1673747
GARD	0020783
Is cancer (heuristic)	no

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

Disease family

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

Related subtypes (12): Klinefelter syndrome, pentasomy X, paternal uniparental disomy of chromosome X, 49,XXXYY syndrome, partial deletion of chromosome X, partial duplication of chromosome X, trisomy X, tetrasomy X, X small rings, 48,XXXY syndrome, 49,XXXXY syndrome, monosomy X

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.