HYPOTRICHOSIS 11

General Information (adopted from Orphanet):

Synonyms, Signs: HYPT11
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615059
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200102) Sparse or absent eyelashes 64 / 7739
2
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow 117 / 7739
3
(HPO:0001006) Hypotrichosis 219 / 7739
4
(HPO:0002221) Absent axillary hair 6 / 7739
5
(OMIM) Normal pubic hair 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Hypotrichosis or alopecia 1 / 7739
8
(OMIM) Absent body hair 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Just et al. (1998) reported a large 4-generation Spanish family in which 8 affected members had hypotrichosis involving the scalp, eyebrows, and eyelashes, as well as axillary and body hair, but sparing the pubic hair. The hair, when ...
Molecular genetics OMIM In a large 4-generation Spanish family with autosomal dominant hypotrichosis mapping to chromosome 1q31-q41, Pasternack et al. (2013) excluded 60 genes by direct sequencing and then identified heterozygosity for a mutation in the start codon of SNRPE (128260.0001) ...