Pure hair and nail ectodermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: PHNED
HNED
Hair-nail ectodermal dysplasia
Number of Symptoms 13
OrphanetNr: 69084
OMIM Id: 602032
614928
614929
614931
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002223) Absent eyebrow 21 / 7739
2
 (HPO:0000561) Absent eyelashes 18 / 7739
3
 (HPO:0008394) Congenital onychodystrophy 1 / 7739
4
 (HPO:0002299) Brittle hair 52 / 7739
5
 (HPO:0003777) Pili torti 24 / 7739
6
 (HPO:0002231) Sparse body hair rare [HPO:skoehler] 9 / 7739
7
 (HPO:0001596) Alopecia 162 / 7739
8
 (HPO:0001806) Onycholysis 20 / 7739
9
 (HPO:0007436) Hair-nail ectodermal dysplasia 5 / 7739
10
 (HPO:0008404) Nail dystrophy 89 / 7739
11
 (HPO:0004524) Temporal hypotrichosis 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: