Autosomal recessive hypohidrotic ectodermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
Number of Symptoms 28
OrphanetNr: 248
OMIM Id: 224900
614941
ICD-10: Q82.4
UMLs: C0406702
MeSH: D053360
MedDRA:
Snomed: 27025001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[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:0002007) Frontal bossing 366 / 7739
2
 (HPO:0006323) Premature loss of primary teeth Very frequent [Orphanet] 18 / 7739
3
 (HPO:0000607) Periorbital wrinkles 4 / 7739
4
 (HPO:0001106) Periorbital hyperpigmentation 3 / 7739
5
 (HPO:0000674) Anodontia 18 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000653) Sparse eyelashes 58 / 7739
8
 (HPO:0000668) Hypodontia 81 / 7739
9
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
10
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
11
 (HPO:0012471) Thick vermilion border 115 / 7739
12
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
13
 (HPO:0010803) Everted upper lip vermilion 4 / 7739
14
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
15
 (HPO:0000691) Microdontia 104 / 7739
16
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
17
 (HPO:0000966) Hypohidrosis 41 / 7739
18
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
19
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
20
 (HPO:0007607) Hypohidrotic ectodermal dysplasia 5 / 7739
21
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
22
 (HPO:0001006) Hypotrichosis 219 / 7739
23
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
24
 (HPO:0000970) Anhidrosis 24 / 7739
25
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
26
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
27
 (HPO:0002046) Heat intolerance 13 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: