EBM
MCID: BLL009
MIFTS: 21

Bullous Dystrophy Hereditary Macular Type (EBM)

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bullous Dystrophy Hereditary Macular Type

MalaCards integrated aliases for Bullous Dystrophy Hereditary Macular Type:

Name: Bullous Dystrophy Hereditary Macular Type 52
Dystrophy, Bullous, Hereditary, Macular Type 39
Hereditary Bullous Dystrophy, Macular Type 58
Epidermolysis Bullosa Macular Type 52
Ebm 52

Characteristics:

Orphanet epidemiological data:

58
hereditary bullous dystrophy, macular type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,early childhood,infantile,late childhood;

HPO:

31
bullous dystrophy hereditary macular type:
Inheritance x-linked inheritance
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q81.8
UMLS via Orphanet 72 C0795974
Orphanet 58 ORPHA1867

Summaries for Bullous Dystrophy Hereditary Macular Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature , microcephaly , intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive . The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. Visit the Orphanet disease page for more resources.

MalaCards based summary : Bullous Dystrophy Hereditary Macular Type, also known as dystrophy, bullous, hereditary, macular type, is related to osteoporosis and bone mineral density quantitative trait locus 8. Affiliated tissues include skin, and related phenotypes are intellectual disability and microcephaly

Related Diseases for Bullous Dystrophy Hereditary Macular Type

Diseases related to Bullous Dystrophy Hereditary Macular Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 10.3
2 bone mineral density quantitative trait locus 8 10.3
3 bone mineral density quantitative trait locus 15 10.3
4 microcephaly 10.1
5 alopecia 10.1
6 dwarfism 10.1
7 pancreatic cancer 10.1
8 inguinal hernia 10.1
9 gastric ulcer 10.1
10 diabetes mellitus 10.1
11 amyotrophic lateral sclerosis 1 10.0
12 hepatocellular carcinoma 10.0
13 multiple endocrine neoplasia, type i 10.0
14 esophageal cancer 10.0
15 otitis media 10.0
16 papillomatosis, confluent and reticulated 10.0
17 parkinson disease, late-onset 10.0
18 rheumatoid arthritis 10.0
19 varicose veins 10.0
20 osteogenic sarcoma 10.0
21 asthma 10.0
22 stroke, ischemic 10.0
23 dermatitis, atopic 10.0
24 cervical cancer 10.0
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
26 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
27 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
28 juvenile arthritis 10.0
29 miyoshi muscular dystrophy 10.0
30 covid-19 10.0
31 filariasis 10.0
32 esophageal varix 10.0
33 hypertrophic cardiomyopathy 10.0
34 filarial elephantiasis 10.0
35 neutropenia 10.0
36 uveitis 10.0
37 patent foramen ovale 10.0
38 heart septal defect 10.0
39 squamous cell carcinoma 10.0
40 mitral valve stenosis 10.0
41 vascular disease 10.0
42 atrial heart septal defect 10.0
43 pharyngitis 10.0
44 lateral sclerosis 10.0
45 dermatitis 10.0
46 multiple endocrine neoplasia 10.0
47 tricuspid valve insufficiency 10.0
48 myopathy 10.0
49 movement disease 10.0
50 juvenile rheumatoid arthritis 10.0

Graphical network of the top 20 diseases related to Bullous Dystrophy Hereditary Macular Type:



Diseases related to Bullous Dystrophy Hereditary Macular Type

Symptoms & Phenotypes for Bullous Dystrophy Hereditary Macular Type

Human phenotypes related to Bullous Dystrophy Hereditary Macular Type:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 acrocyanosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001063
4 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001597
5 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
6 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
7 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
8 alopecia totalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007418
9 abnormality of the genital system 58 31 frequent (33%) Frequent (79-30%) HP:0000078
10 abnormal hair quantity 58 Very frequent (99-80%)
11 short finger 31 HP:0009381
12 severe short stature 31 HP:0003510
13 hyperpigmentation of the skin 31 HP:0000953

Drugs & Therapeutics for Bullous Dystrophy Hereditary Macular Type

Search Clinical Trials , NIH Clinical Center for Bullous Dystrophy Hereditary Macular Type

Genetic Tests for Bullous Dystrophy Hereditary Macular Type

Anatomical Context for Bullous Dystrophy Hereditary Macular Type

MalaCards organs/tissues related to Bullous Dystrophy Hereditary Macular Type:

40
Skin

Publications for Bullous Dystrophy Hereditary Macular Type

Articles related to Bullous Dystrophy Hereditary Macular Type:

# Title Authors PMID Year
1
The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region. 61
7726164 1995
2
X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family. 61
7943046 1994

Variations for Bullous Dystrophy Hereditary Macular Type

Expression for Bullous Dystrophy Hereditary Macular Type

Search GEO for disease gene expression data for Bullous Dystrophy Hereditary Macular Type.

Pathways for Bullous Dystrophy Hereditary Macular Type

GO Terms for Bullous Dystrophy Hereditary Macular Type

Sources for Bullous Dystrophy Hereditary Macular Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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