Autosomal dominant hypohidrotic ectodermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia
Number of Symptoms 30
OrphanetNr: 1810
OMIM Id: 129490
614940
ICD-10: Q82.4
UMLs: C0265331
MeSH:
MedDRA:
Snomed: 7731005

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Hypohidrotic ectodermal dysplasia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
2
 (HPO:0000668) Hypodontia 81 / 7739
3
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
4
 (HPO:0000653) Sparse eyelashes 58 / 7739
5
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
6
 (HPO:0000674) Anodontia 18 / 7739
7
 (HPO:0006323) Premature loss of primary teeth Very frequent [Orphanet] 18 / 7739
8
 (HPO:0000691) Microdontia 104 / 7739
9
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
10
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
11
 (HPO:0000704) Periodontitis Frequent [Orphanet] 24 / 7739
12
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
13
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
14
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
15
 (HPO:0002164) Nail dysplasia 82 / 7739
16
 (HPO:0000966) Hypohidrosis 41 / 7739
17
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
18
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
19
 (HPO:0002217) Slow-growing hair 22 / 7739
20
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
21
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
22
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
23
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
24
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
25
 (HPO:0002213) Fine hair 77 / 7739
26
 (HPO:0002046) Heat intolerance 13 / 7739
27
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
28
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: