TBDN
MCID: TRN029
MIFTS: 38

Transient Bullous Dermolysis of the Newborn (TBDN)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Transient Bullous Dermolysis of the Newborn

MalaCards integrated aliases for Transient Bullous Dermolysis of the Newborn:

Name: Transient Bullous Dermolysis of the Newborn 57 12 20 58 72 36 29 6 44 15 39 70
Tbdn 57 20 72
Transient Bullous of the Newborn 57 13
Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form 20
Epidermolysis Bullosa Dystrophica Dominant Neonatal Type 72
Epidermolysis Bullosa Dystrophica, Neonatal Form 57
Self-Improving Dystrophic Epidermolysis Bullosa 58
Dystrophic Epidermolysis Bullosa, Neonatal 57
Deb, Bullous Dermolysis of the Newborn 12
Self-Improving Deb 58
Deb-Bdn 12

Characteristics:

Orphanet epidemiological data:

58
self-improving dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset at birth
skin lesions resolve between 6 months and 2 years of age
some patients have milder persistent blistering


HPO:

31
transient bullous dermolysis of the newborn:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111345
OMIM® 57 131705
KEGG 36 H00763
SNOMED-CT 67 723553000
MESH via Orphanet 45 C536979
ICD10 via Orphanet 33 Q81.2
UMLS via Orphanet 71 C1851573
Orphanet 58 ORPHA79411
MedGen 41 C1851573
UMLS 70 C1851573

Summaries for Transient Bullous Dermolysis of the Newborn

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79411 Definition Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Epidemiology Prevalence is unknown. Less than 30 cases have been reported to date. Clinical description The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Healing of blisters is associated with mild, mostly atrophic, scarring and milia formation. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Ultrastructurally, the presence in basal keratinocytes of peculiar cytoplasmic inclusions, known as stellate bodies, filled with unsecreted procollagen VII, is typical of the disease. Etiology Transient bullous dermolysis of the newborn is caused by mutations within the type VII collagen gene ( COL7A1 ). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Genetic counseling The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait.

MalaCards based summary : Transient Bullous Dermolysis of the Newborn, also known as tbdn, is related to epidermolysis bullosa dystrophica and nail disorder, nonsyndromic congenital, 8. An important gene associated with Transient Bullous Dermolysis of the Newborn is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, eye and endothelial, and related phenotypes are nail dystrophy and milia

Disease Ontology : 12 An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has material basis in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.

OMIM® : 57 Transient bullous dermolysis of the newborn is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by Fassihi et al., 2005). (131705) (Updated 20-May-2021)

KEGG : 36 Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation of type VII collagen. The disease usually regresses during early life, as type VII collagen secretion gradually recovers.

UniProtKB/Swiss-Prot : 72 Transient bullous dermolysis of the newborn: TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life.

Wikipedia : 73 Transient bullous dermolysis of the newborn (TBDN) is a skin condition that presents in newborns. It is... more...

Related Diseases for Transient Bullous Dermolysis of the Newborn

Graphical network of the top 20 diseases related to Transient Bullous Dermolysis of the Newborn:



Diseases related to Transient Bullous Dermolysis of the Newborn

Symptoms & Phenotypes for Transient Bullous Dermolysis of the Newborn

Human phenotypes related to Transient Bullous Dermolysis of the Newborn:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
2 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
3 anonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001798
4 fragile skin 58 31 frequent (33%) Frequent (79-30%) HP:0001030
5 atrophic scars 58 31 frequent (33%) Frequent (79-30%) HP:0001075
6 oral mucosal blisters 58 31 frequent (33%) Frequent (79-30%) HP:0200097
7 abnormality of the subungual region 58 31 frequent (33%) Frequent (79-30%) HP:0009723
8 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
9 skin erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200041
10 aplasia cutis congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0001057
11 abnormality of skin pigmentation 58 31 very rare (1%) Very rare (<4-1%) HP:0001000
12 abnormal blistering of the skin 58 31 Frequent (79-30%) HP:0008066
13 generalized abnormality of skin 58 Very frequent (99-80%)
14 anemia 58 Excluded (0%)
15 palmoplantar keratoderma 58 Excluded (0%)
16 growth delay 58 Excluded (0%)
17 gastrointestinal inflammation 58 Excluded (0%)
18 abnormality of the eye 58 Excluded (0%)
19 abnormality of the urinary system 58 Excluded (0%)
20 abnormality of metabolism/homeostasis 31 HP:0001939
21 basal cell carcinoma 58 Excluded (0%)
22 cutaneous melanoma 58 Excluded (0%)
23 squamous cell carcinoma 58 Excluded (0%)
24 hypoplasia of dental enamel 58 Excluded (0%)
25 abnormality of the scalp 58 Excluded (0%)
26 abnormal respiratory system morphology 58 Excluded (0%)
27 genital blistering 58 Excluded (0%)
28 mitten deformity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Skin Electron Microscopy:
sublamina densa level of tissue separation beneath basal membrane
decreased number of anchoring fibrils at dermal-epidermal junction
hypotrophic anchoring fibrils
retention of col7a1 within endoplasmic reticulum in epidermal keratinocytes
decreased staining for collagen vii at the dermal-epidermal junction
more
Skin Nails Hair Skin:
milia
blisters
skin fragility
epidermolysis bullosa, dystrophic
mild atrophic scarring

Clinical features from OMIM®:

131705 (Updated 20-May-2021)

Drugs & Therapeutics for Transient Bullous Dermolysis of the Newborn

Search Clinical Trials , NIH Clinical Center for Transient Bullous Dermolysis of the Newborn

Cochrane evidence based reviews: transient bullous dermolysis of the newborn

Genetic Tests for Transient Bullous Dermolysis of the Newborn

Genetic tests related to Transient Bullous Dermolysis of the Newborn:

# Genetic test Affiliating Genes
1 Transient Bullous Dermolysis of the Newborn 29 COL7A1

Anatomical Context for Transient Bullous Dermolysis of the Newborn

MalaCards organs/tissues related to Transient Bullous Dermolysis of the Newborn:

40
Skin, Eye, Endothelial

Publications for Transient Bullous Dermolysis of the Newborn

Articles related to Transient Bullous Dermolysis of the Newborn:

(show all 28)
# Title Authors PMID Year
1
Transient bullous dermolysis of the newborn in three generations. 61 6 57
16225626 2005
2
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. 6 57 61
9856844 1998
3
Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. 61 57 6
9406826 1997
4
Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity. 61 57 6
8345225 1993
5
Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. 61 57
2104504 1990
6
Transient bullous dermolysis of the newborn: two additional cases. 61 57
2681282 1989
7
Transient bullous dermolysis of the newborn. 61 57
3901931 1985
8
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. 6
17434045 2007
9
Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen. 57
2061461 1991
10
Tubedown regulation of retinal endothelial permeability signaling pathways. 61
26142315 2015
11
Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene. 61
25800346 2015
12
Osmotic pressure-adaptive responses in the eye tissues of rainbow smelt (Osmerus mordax). 61
22025894 2011
13
Loss of tubedown expression as a contributing factor in the development of age-related retinopathy. 61
20463314 2010
14
Tubedown associates with cortactin and controls permeability of retinal endothelial cells to albumin. 61
18495841 2008
15
Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly. 61
17501948 2007
16
Tubedown-1 (Tbdn-1) suppression in oxygen-induced retinopathy and in retinopathy of prematurity. 61
16518308 2006
17
Conditional knockdown of tubedown-1 in endothelial cells leads to neovascular retinopathy. 61
15452080 2004
18
Tubedown-1 in remodeling of the developing vitreal vasculature in vivo and regulation of capillary outgrowth in vitro. 61
12217325 2002
19
Serological identification and expression analysis of gastric cancer-associated genes. 61
12087473 2002
20
Suppressed expression of tubedown-1 in retinal neovascularization of proliferative diabetic retinopathy. 61
11687548 2001
21
Tubedown-1, a novel acetyltransferase associated with blood vessel development. 61
10842358 2000
22
Three new cases of transient bullous dermolysis of the newborn. 61
10071321 1999
23
[Transient bullous epidermolysis of the newborn infant. A benign clinical form of dystrophic bullous epidermolysis or an autonomous entity?]. 61
8761761 1996
24
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. 61
8204486 1994
25
Transient bullous dermolysis of the newborn: new pathologic findings. 61
8267724 1993
26
Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis. 61
1487571 1992
27
Wilms' tumor with transient dermolysis of the newborn: recurrence of skin lesions during chemotherapy. 61
1331730 1992
28
Transient bullous dermolysis of the newborn. Case report and review of pathogenesis. 61
1761784 1991

Variations for Transient Bullous Dermolysis of the Newborn

ClinVar genetic disease variations for Transient Bullous Dermolysis of the Newborn:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) SNV Pathogenic 17436 rs121912834 GRCh37: 3:48610374-48610374
GRCh38: 3:48572941-48572941
2 COL7A1 NM_000094.3(COL7A1):c.4556G>A (p.Gly1519Asp) SNV Pathogenic 17437 rs121912835 GRCh37: 3:48620049-48620049
GRCh38: 3:48582616-48582616
3 COL7A1 NM_000094.3(COL7A1):c.4120-1G>C SNV Pathogenic 17461 rs1299648939 GRCh37: 3:48621809-48621809
GRCh38: 3:48584376-48584376
4 COL7A1 NM_000094.3(COL7A1):c.4565G>A (p.Gly1522Glu) SNV Pathogenic 29635 rs387906605 GRCh37: 3:48619945-48619945
GRCh38: 3:48582512-48582512
5 COL7A1 NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) Deletion Pathogenic 372332 rs757688782 GRCh37: 3:48623044-48623044
GRCh38: 3:48585611-48585611
6 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) SNV Pathogenic 372349 rs201728948 GRCh37: 3:48608072-48608072
GRCh38: 3:48570639-48570639
7 COL7A1 NM_000094.4(COL7A1):c.6082G>A SNV Pathogenic 379476 rs762162799 GRCh37: 3:48612870-48612870
GRCh38: 3:48575437-48575437
8 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
9 COL7A1 NM_000094.3(COL7A1):c.1637-1G>A SNV Pathogenic 345869 rs886058642 GRCh37: 3:48628250-48628250
GRCh38: 3:48590817-48590817
10 COL7A1 NM_000094.4(COL7A1):c.1573C>T SNV Pathogenic 279785 rs368007918 GRCh37: 3:48628960-48628960
GRCh38: 3:48591527-48591527
11 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
12 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) SNV Pathogenic 449472 rs1203706188 GRCh37: 3:48630987-48630987
GRCh38: 3:48593554-48593554
13 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) SNV Pathogenic 372330 rs144023803 GRCh37: 3:48628154-48628154
GRCh38: 3:48590721-48590721
14 COL7A1 NM_000094.4(COL7A1):c.5820G>A SNV Likely pathogenic 431810 rs200972872 GRCh37: 3:48613682-48613682
GRCh38: 3:48576249-48576249
15 COL7A1 NM_000094.4(COL7A1):c.1907G>T SNV Uncertain significance 502658 rs116005007 GRCh37: 3:48627789-48627789
GRCh38: 3:48590356-48590356
16 COL7A1 NM_000094.4(COL7A1):c.7068+5G>A SNV Uncertain significance 689753 rs779875751 GRCh37: 3:48609429-48609429
GRCh38: 3:48571996-48571996
17 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) SNV Uncertain significance 17446 rs121912838 GRCh37: 3:48612861-48612861
GRCh38: 3:48575428-48575428

UniProtKB/Swiss-Prot genetic disease variations for Transient Bullous Dermolysis of the Newborn:

72
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly1519Asp VAR_011161 rs121912835
2 COL7A1 p.Gly2251Glu VAR_011189 rs121912834

Expression for Transient Bullous Dermolysis of the Newborn

Search GEO for disease gene expression data for Transient Bullous Dermolysis of the Newborn.

Pathways for Transient Bullous Dermolysis of the Newborn

GO Terms for Transient Bullous Dermolysis of the Newborn

Cellular components related to Transient Bullous Dermolysis of the Newborn according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.26 VWF MATN1 HBEGF COL7A1
2 collagen-containing extracellular matrix GO:0062023 8.8 VWF MATN1 COL7A1

Biological processes related to Transient Bullous Dermolysis of the Newborn according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.8 VWF MATN1 COL7A1

Molecular functions related to Transient Bullous Dermolysis of the Newborn according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 VWF MATN1

Sources for Transient Bullous Dermolysis of the Newborn

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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