ORPHA:75497

X-linked Ehlers-Danlos syndrome

Synonyms: X-linked EDS · EDS V · Ehlers-Danlos syndrome type 5

Type: Disease
Group: Disorder
Inheritance: X-linked recessive
Age of onset: Adolescent
Status: active

A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	X-linked Ehlers-Danlos syndrome	X-linked EDS · EDS V · Ehlers-Danlos syndrome type 5
fr	Syndrome d'Ehlers-Danlos lié à l'X	EDS V · SED V · Syndrome d'Ehlers-Danlos type 5
de	Ehlers-Danlos-Syndrom, X-chromosomales	EDS V · Ehlers-Danlos-Syndrom Typ 5
es	Síndrome de Ehlers-Danlos ligado al cromosoma X	SED V · SED ligado al cromosoma X · Síndrome de Ehlers-Danlos tipo 5
it	Sindrome di Ehlers-Danlos legata all'X	EDS V · EDS legata all'X · Sindrome di Ehlers-Danlos, tipo 5
nl	X-gebonden syndroom van Ehlers-Danlos	EDS V · Syndroom van Ehlers-Danlos type 5 · X-gebonden EDS
pt	Síndrome Ehlers-Danlos ligada ao X	EDS V · EDS ligada ao X · Síndrome Ehlers-Danlos tipo 5
pl	Zespół Ehlersa i Danlosa sprzężony z chromosomem X	Sprzężony z płcią zespół Ehlersa i Danlosa
cs	X-vázaný Ehlersův-Danlosův syndrom	EDS V · Ehlersův-Danlosův syndrom, typ 5 · X-vázaný Ehlers-Danlosův syndrom · Ehlers-Danlosův syndrom, typ 5
uk	Х-зчеплений синдром Елерса-Данлоса	EDS V · Синдром Елерса-Данлоса, тип 5 · Х-зчеплений ЕДС
zh	X连锁Ehlers-Danlos综合征	Ehlers-Danlos综合征5型
tr	X'e bağlı Ehlers-Danlos sendromu	EDS V · Ehlers-Danlos sendromu tip 5

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	314400	E		validated
ICD-10	Q79.6	NTBT	attributed	validated
ICD-11	LD28.1Y	NTBT	index	validated
MONDO	0010586	E		validated
MeSH	C536197	E		validated
UMLS	C0268341	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:98023Rare systemic or rheumatologic disease

Parents in the classifications (1):

ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FLNA	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3754	ENSG00000196924	300017	Xq28	filamin A	27739212[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		2 families	Worldwide	Family(ies)	Validated	4006272[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_4006272[PMID]

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

10 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0000978	Bruising susceptibility
HP:0002020	Gastroesophageal reflux
HP:0100790	Hernia
HP:0000974	Hyperextensible skin
HP:0000023	Inguinal hernia
HP:0001382	Joint hypermobility
HP:0004322	Short stature
HP:0000963	Thin skin
HP:0001537	Umbilical hernia

Run the differential on the 10 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/75497
This record as JSON: /data/d/75497.json