ORPHA:91135

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Synonyms: PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive, Unknown
Age of onset: Adolescent, Childhood
Status: active

A rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome
fr	Hyperlaxité de la peau par déficit en facteur de coagulation dépendant de la vitamine K	Syndrome PXE-like · Syndrome pseudoxanthome élastique-like
de	Hyperlaxität der Haut durch Mangel an Vitamin K-abhängigen Koagulationsfaktoren	PXE-ähnliches Syndrom · Pseudoxanthoma elasticum-ähnliches Syndrom
es	Hiperlaxitud de la piel del cuerpo por deficiencia de factor de coagulación dependiente de vitamina K	Síndrome similar a PXE · Síndrome similar a pseudoxantoma elástico
it	Iperlassità cutanea da deficit del fattore della coagulazione vitamina K-dipendente	Sindrome PXE-simile · Sindrome pseudoxantoma elastico-simile
nl	Hyperlaxiteit van huid door deficiëntie van vitamine K-afhankelijke stollingsfactor	PXE-achtig syndroom · Pseudoxanthoma elasticum-achtig syndroom
pt	Hiperlaxidão cutânea por deficiência de fatores de coagulação dependentes de vitamina K
pl	Zwiększona elastyczność skóry ciała spowodowana niedoborem czynnika krzepnięcia zależnego od witaminy K	Zespół podobny do Pseudoxanthoma elasticum · Zespół podobny do PXE
cs	Hyperlaxita kůže způsobená deficitem vitamin K-dependentních koagulačních faktorů	Syndrom podobný PXE · Syndrom podobný pseudoxanthoma elasticum
uk	Гіперлабільність шкіри тіла через дефіцит вітамін К-залежного фактора коагуляції	Псевдоксантомоподібний еластичний синдром · PXE-подібний синдром
zh	维生素K依赖性凝血因子缺乏所致身体皮肤松弛	弹性假黄瘤样综合征
tr	K vitaminine bağlı pıhtılaşma faktörü eksikliğine bağlı vücut derisi hiperlaksitesi	PXE-benzeri sendrom · Psödoksantoma elastikum-benzeri sendrom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	610842	E		validated
ICD-10	Q82.8	NTBT	attributed	validated
ICD-11	EC4Y	NTBT	attributed	validated
MONDO	0012570	E		validated
UMLS	C4049241	E		validated
MedDRA	10076864	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:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GGCX	Disease-causing germline mutation(s) in	Assessed	HGNC:4247	ENSG00000115486	137167	2p11.2	gamma-glutamyl carboxylase	17110937[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		11 cases	Worldwide	Case(s)	Validated	25151188[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_25151188[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

8 annotations · validated 2017-06-19

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001928	Abnormality of coagulation
HP:0000973	Cutis laxa
HP:0200034	Papule
HP:0001582	Redundant skin
Frequent (79-30%)
HP:0001892	Abnormal bleeding
HP:0001102	Angioid streaks of the fundus
HP:0002621	Atherosclerosis
Very rare (<4-1%)
HP:0004944	Dilatation of the cerebral artery

Run the differential on the 4 obligate / very frequent terms

Annotation source: 17110937[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/91135
This record as JSON: /data/d/91135.json