ORPHA:79401

PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

Synonyms: PLEC-related intermediate EBS without extracutaneous involvement

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
Status: active

A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	PLEC-related intermediate EBS without extracutaneous involvement
fr	Epidermolyse bulleuse simple intermédiaire sans manifestations extracutanées associée à PLEC	EBS intermédiaire sans manifestations extracutanées associée à PLEC
de	PLEC-assoziierte intermediäre Epidermolysis bullosa simplex ohne extrakutane Beteiligung	EBS-O
es	Epidermólisis ampollosa simple intermedia sin afectación extracutánea asociada a PLEC	EBS intermedia sin afectación extracutánea asociada a PLEC
it	Epidermolisi bollosa semplice intermedia correlata a PLEC in assenza di un coinvolgimento extracutaneo	EBS intermedia correlata a PLEC senza coinvolgimento extracutaneo
nl	PLEC-gerelateerde intermediaire epidermolysis bullosa simplex zonder extracutane betrokkenheid	PLEC-gerelateerde intermediaire EBS zonder extracutane betrokkenheid
pt	Epidermólise bolhosa simples intermédia PLEC-relacionada sem envolvimento extracutâneo	EBS-O
pl	Postać prosta pęcherzowego oddzielania się naskórka pośrednia bez zajęcia skóry zwiazana z PLEC	= en
cs	Epidermolysis bullosa simplex, typ Ogna	EBS-O
uk	PLEC-асоційований помірний простий бульозний епідермоліз, без позашкірного ураження	Проміжна БЕС, повязана з PLEC, без позашкірного втручання
zh	单纯型大疱性表皮松解症，Ogna型	= en
tr	Epidermolizis bülloza simpleks, Ogna tipi	EBS-O

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	131950	E		validated
ICD-10	Q81.0	NTBT	attributed	validated
ICD-11	EC30	NTBT	index	validated
MONDO	0007555	E		validated
MeSH	C535962	E		validated
UMLS	C0432317	E		validated
GARD	2148	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:89826Rare skin disease

Parents in the classifications (1):

ORPHA:595346Epidermolysis bullosa simplex without extracutaneous involvement
rare genetic diseases; rare skin diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PLEC	Disease-causing germline mutation(s) in	Assessed	HGNC:9069	ENSG00000178209	601282	8q24.3	plectin	11851880[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		6 families	Worldwide	Family(ies)	Validated	22854623[PMID]_23774525[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

12 annotations · validated 2021-03-19

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0008066	Abnormal blistering of the skin
HP:0031045	Acral blistering
HP:0001030	Fragile skin
HP:0001034	Hypermelanotic macule
HP:0020073	Hypopigmented macule
HP:0007446	Palmoplantar blistering
HP:0000982	Palmoplantar keratoderma
HP:0200041	Skin erosion
Occasional (29-5%)
HP:0000164	Abnormality of the dentition
Excluded (0%)
HP:0001627	Abnormal heart morphology
HP:0002012	Abnormality of the abdominal organs
HP:0000478	Abnormality of the eye

Annotation source: 11851880[PMID]_22854623[PMID]_25530118[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79401
This record as JSON: /data/d/79401.json