Cataract-hypertrichosis-intellectual disability syndrome

Summary

Cataract-hypertrichosis-intellectual disability syndrome (MONDO:0008894) is a disease. A subtype of hypertrichosis — 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): 8

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)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0000174	Abnormal palate morphology	Very frequent (80-99%)
HP:0000519	Developmental cataract	Very frequent (80-99%)
HP:0000691	Microdontia	Very frequent (80-99%)
HP:0000767	Pectus excavatum	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0002162	Low posterior hairline	Very frequent (80-99%)
HP:0002230	Generalized hirsutism	Very frequent (80-99%)
HP:0005280	Depressed nasal bridge	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cataract-hypertrichosis-intellectual disability syndrome
Mondo ID	MONDO:0008894
MeSH	C537959
OMIM	211770
Orphanet	1375
SNOMED CT	722379001
UMLS	C0796282
MedGen	167117
GARD	0001052
Is cancer (heuristic)	no

Also known as: CAHMR syndrome · cataract, hypertrichosis, mental retardation syndrome

Disease family

This is a subtype of hypertrichosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hypertrichosis › cataract-hypertrichosis-intellectual disability syndrome

Related subtypes (10): hypertrichosis of eyelid, gingival fibromatosis-hypertrichosis syndrome, hypertrichosis cubiti-short stature syndrome, cervical hypertrichosis-peripheral neuropathy syndrome, Rabson-Mendenhall syndrome, isolated anterior cervical hypertrichosis, acquired hypertrichosis lanuginosa, hypertrichosis lanuginosa congenita, autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, hypertrichosis-acromegaloid facial appearance syndrome

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.