Congenital generalized hypertrichosis, Ambras type

General Information (adopted from Orphanet):

Synonyms, Signs: HTC1
ambras syndrome
Number of Symptoms 3
OrphanetNr: 1023
OMIM Id: 145701
ICD-10: Q84.2
UMLs:
MeSH: C536605
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 40 cases [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypertrichosis lanuginosa congenita
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0004540) Congenital, generalized hypertrichosis 11 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Persistent generalized hypertrichosis, esp. face, ears, and shoulders 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baumeister et al. (1993) found 9 observations of a unique form of hypertrichosis which they suggested should be called Ambras syndrome in reference to the first documented case. Furthermore, they reinvestigated a Greek girl with this disorder, described ...