HYPOTRICHOSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY
HHS
HTS
HYPT1
Number of Symptoms 3
OrphanetNr:
OMIM Id: 605389
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001006) Hypotrichosis obligate [HPO:skoehler] 219 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood ...
Clinical Description OMIM In contrast to the total and permanent absence of hair in congenital atrichia (203655), hair is present in hereditary hypotrichosis simplex but is diffusely thinned. Another form of isolated hypotrichosis, the Marie Unna type (146550), is distinguished from ...
Molecular genetics OMIM In both Pakistani families used to map the disorder and in an Italian family described by Baumer et al. (2000), Shimomura et al. (2010) identified a T-to-G transition at nucleotide 26 of the APCDD1 gene resulting in a ...