Epidermolysis bullosa simplex with anodontia/hypodontia

General Information (adopted from Orphanet):

Synonyms, Signs: Gamborg-Nielsen syndrome
Kallin syndrome
Number of Symptoms 19
OrphanetNr: 2325
OMIM Id:
ICD-10: K00.0
Q81.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease
Rare disease with odontological manifestation
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
2
 (HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
3
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
4
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
5
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
6
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
7
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
8
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
9
 (HPO:0001083) Ectopia lentis Frequent [Orphanet] 45 / 7739
10
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
11
 (HPO:0003473) Fatigable weakness Occasional [Orphanet] 39 / 7739
12
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
13
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
14
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
15
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
16
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
17
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
18
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: