ECTODERMAL DYSPLASIA WITH ADRENAL CYST

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 129550
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:0000684) Delayed eruption of teeth 117 / 7739
2
 (HPO:0003187) Breast hypoplasia 17 / 7739
3
 (HPO:0002557) Hypoplastic nipples 33 / 7739
4
 (HPO:0000818) Abnormality of the endocrine system 26 / 7739
5
 (HPO:0000966) Hypohidrosis 41 / 7739
6
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
7
 (HPO:0002164) Nail dysplasia 82 / 7739
8
 (OMIM) Aplasia cutis verticis 2 / 7739
9
 (MedDRA:10049647) Adrenal cyst 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Minor tooth anomalies 1 / 7739
12
 (OMIM) Alactia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: