Ambras type hypertrichosis universalis congenita

Summary

Ambras type hypertrichosis universalis congenita (MONDO:0007787) is a disease. A subtype of hypertrichosis lanuginosa congenita — 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]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		40	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	Ambras type hypertrichosis universalis congenita
Mondo ID	MONDO:0007787
OMIM	145701
Orphanet	1023
DOID	DOID:0111060
UMLS	C1840362
MedGen	333542
GARD	0008206
Is cancer (heuristic)	no

Also known as: Ambras syndrome · congenital generalised hypertrichosis, Ambras type · HTC 1 · HTC1 · hypertrichosis universalis congenita Ambras type · hypertrichosis universalis congenita, Ambras type · hypertrichosis, congenital generalised

Disease family

This is a subtype of hypertrichosis lanuginosa congenita. 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 › hypertrichosis lanuginosa congenita › Ambras type hypertrichosis universalis congenita

Related subtypes (1): X-linked congenital generalized hypertrichosis

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.