Hereditary acrokeratotic poikiloderma, Weary type

General Information (adopted from Orphanet):

Synonyms, Signs: Congenital poikiloderma with bullae, Weary type
Number of Symptoms 45
OrphanetNr: 2907
OMIM Id:
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary acrokeratotic poikiloderma of Kindler-Weary
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
2
 (HPO:0100587) Abnormality of the preputium Frequent [Orphanet] 5 / 7739
3
 (HPO:0000124) Renal tubular dysfunction Occasional [Orphanet] 46 / 7739
4
 (HPO:0006323) Premature loss of primary teeth Very frequent [Orphanet] 18 / 7739
5
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
6
 (HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
7
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
8
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
9
 (HPO:0100669) Abnormal pigmentation of the oral mucosa Frequent [Orphanet] 7 / 7739
10
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
11
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
12
 (HPO:0000230) Gingivitis Very frequent [Orphanet] 31 / 7739
13
 (HPO:0000217) Xerostomia Frequent [Orphanet] 35 / 7739
14
 (HPO:0000225) Gingival bleeding Frequent [Orphanet] 28 / 7739
15
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
16
 (HPO:0010296) Ankyloglossia Frequent [Orphanet] 11 / 7739
17
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
18
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
19
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
20
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
21
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
22
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
23
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
24
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
25
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
26
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
27
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
28
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
29
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
30
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
31
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
32
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
33
 (HPO:0200039) Pustule Very frequent [Orphanet] 20 / 7739
34
 (HPO:0000964) Eczema Very frequent [Orphanet] 81 / 7739
35
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
36
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
37
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
38
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
39
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
40
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
41
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
42
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
43
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
44
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
45
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: