Hypertrichosis lanuginosa congenita

Summary

Hypertrichosis lanuginosa congenita (MONDO:0016381) 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 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 7

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		100	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

7 HPO clinical features (Orphanet curated; top 7 by frequency):

HPO ID	Term	Frequency
HP:0000164	Abnormality of the dentition	Very frequent (80-99%)
HP:0000365	Hearing impairment	Very frequent (80-99%)
HP:0000574	Thick eyebrow	Very frequent (80-99%)
HP:0000684	Delayed eruption of teeth	Very frequent (80-99%)
HP:0002230	Generalized hirsutism	Very frequent (80-99%)
HP:0001000	Abnormality of skin pigmentation	Frequent (30-79%)
HP:0000212	Gingival overgrowth	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	hypertrichosis lanuginosa congenita
Mondo ID	MONDO:0016381
MeSH	C538389
OMIM	145700
Orphanet	2222
ICD-11	199539869
SNOMED CT	201163007
UMLS	C0235864
MedGen	66727
GARD	0002865
Is cancer (heuristic)	no

Also known as: congenital hypertrichosis lanuginosa · hypertrichosis lanuginosa congenita · hypertrichosis lanuginosa universalis · hypertrichosis universalis

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 › hypertrichosis lanuginosa congenita

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

Subtypes (2): Ambras type hypertrichosis universalis congenita, 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.