Maternal uniparental disomy of chromosome 6

Summary

Maternal uniparental disomy of chromosome 6 (MONDO:0019912) is a disease. A subtype of chromosome 6 disorder — 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): 21

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		15	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0000023	Inguinal hernia	Frequent (30-79%)
HP:0000034	Hydrocele testis	Frequent (30-79%)
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0000204	Cleft upper lip	Frequent (30-79%)
HP:0000325	Triangular face	Frequent (30-79%)
HP:0000510	Rod-cone dystrophy	Frequent (30-79%)
HP:0000512	Abnormal electroretinogram	Frequent (30-79%)
HP:0000529	Progressive visual loss	Frequent (30-79%)
HP:0000964	Eczematoid dermatitis	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001511	Intrauterine growth retardation	Frequent (30-79%)
HP:0001873	Thrombocytopenia	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0002721	Immunodeficiency	Frequent (30-79%)
HP:0003100	Slender long bone	Frequent (30-79%)
HP:0005268	Spontaneous abortion	Frequent (30-79%)
HP:0002194	Delayed gross motor development	Occasional (5-29%)
HP:0002805	Accelerated bone age after puberty	Occasional (5-29%)
HP:0008258	Congenital adrenal hyperplasia	Occasional (5-29%)
HP:0008665	Clitoral hypertrophy	Occasional (5-29%)
HP:0030088	Increased serum testosterone level	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	maternal uniparental disomy of chromosome 6
Mondo ID	MONDO:0019912
Orphanet	96181
ICD-11	423779048
SNOMED CT	766239009
UMLS	C4707720
MedGen	1638411
GARD	0019333
Is cancer (heuristic)	no

Also known as: maternal uniparental disomy of chromosome type 6 · UPD(6)mat

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 6 disorder › maternal uniparental disomy of chromosome 6

Related subtypes (5): ring chromosome 6, partial deletion of chromosome 6, partial duplication of chromosome 6, paternal uniparental disomy of chromosome 6, mosaic trisomy 6

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.