X-linked intellectual disability-retinitis pigmentosa syndrome

Summary

X-linked intellectual disability-retinitis pigmentosa syndrome (MONDO:0010364) is a disease. A subtype of partial monosomy of the short arm of chromosome X — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe)
• Phenotypes (HPO): 2

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

2 HPO clinical features (Orphanet curated; top 2 by frequency):

HPO ID	Term	Frequency
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0007730	Iris hypopigmentation	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked intellectual disability-retinitis pigmentosa syndrome
Mondo ID	MONDO:0010364
OMIM	300578
Orphanet	85332
SNOMED CT	719808002
UMLS	C1845136
MedGen	336862
GARD	0008360
Is cancer (heuristic)	no

Also known as: Aldred syndrome · chromosome xp11.3 deletion syndrome, X-linked recessive · mental retardation, X-linked, with retinitis pigmentosa · nonspecific intellectual disability associated with retinitis pigmentosa · nonspecific mental retardation associated with retinitis pigmentosa · retinitis pigmentosa and intellectual disability due to del(X)(p11.3) · retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 · retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion · X-linked mental handicap-retinitis pigmentosa syndrome

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal deletion › partial deletion of chromosome X › partial monosomy of the short arm of chromosome X › X-linked intellectual disability-retinitis pigmentosa syndrome

Related subtypes (3): chromosome Xp21 deletion syndrome, Xp22.3 microdeletion syndrome, atypical Norrie disease due to monosomy Xp11.3

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.