Bullous dystrophy, macular type

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA, MACULAR TYPE
EBM
Number of Symptoms 21
OrphanetNr: 1867
OMIM Id: 302000
ICD-10: Q81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
4
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
5
 (HPO:0009381) Short finger 45 / 7739
6
 (HPO:0003510) Severe short stature 90 / 7739
7
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
8
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
9
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
10
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
11
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
12
 (HPO:0007418) Alopecia totalis 6 / 7739
13
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
14
 (HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
16
 (OMIM) Hyperpigmentation 24 / 7739
17
 (OMIM) Bullae without evident trauma 1 / 7739
18
 (OMIM) Depigmentation 1 / 7739
19
 (OMIM) Short tapering fingers 2 / 7739
20
 (HPO:0003819) Death in childhood 42 / 7739
21
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: