ORPHA:69088

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Synonyms: OL-HED-ID

Type: Disease
Group: Disorder
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	OL-HED-ID
fr	Syndrome de dysplasie ectodermique hypohidrotique-déficit immunitaire-ostéopétrose-lymphoedème	OL-HED-ID · Syndrome d'HED-déficit immunitaire-ostéopétrose-lymphoedème · Syndrome de DEH-déficit immunitaire-ostéopétrose-lymphoedème · Syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème · Syndrome de dysplasie ectodermique hypohidrotique-immunodéficience-ostéopétrose-lymphoedème
de	Hypohidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom	= en
es	Síndrome de displasia ectodérmica hipohidrótica-inmunodeficiencia-osteopetrosis-linfedema
it	Sindrome displasia ectodermica anidrotica-immunodeficienza-osteopetrosi-linfedema
nl	Hypohidrotische ectodermale dysplasie - immuundeficiëntie - osteopetrose - lymfoedeem-syndroom	= en
pt	Síndrome de displasia ectodérmica hipohidrótica-imunodeficiência-osteopetrose-linfedema	= en
pl	Zespół dysplazji ektodermalnej anhydrotycznej, Niedobóru odporności, osteopetrozy i obrzęku limfatycznego	OL-EDA-ID
cs	Syndrom zahrnující anhidrotickou ektodermální dysplázii, imunodeficienci, osteopetrózu a lymfedém	OL-EDA-ID
uk	Синдром ангідротичної ектодермальної дисплазії-імунодефіциту-остеопетрозу-лімфедеми	OL-EDA-ID
zh	无汗性外胚层发育不良-免疫缺陷-骨硬化-淋巴水肿综合征	OL-EDA-ID
tr	Anhidrotik ektodermal displazi-immün yetmezlik-osteopetroz-lenfödem sendromu	OL-EDA-ID

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	300291	E		validated
ICD-10	Q78.2	NTBT	attributed	validated
ICD-11	LD27.0Y	NTBT	index	validated
MONDO	0010295	E		validated
UMLS	C4303737	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (5):

ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases
ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
IKBKG	Disease-causing germline mutation(s) in	Assessed	HGNC:5961	ENSG00000269335	300248	Xq28	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		2 cases	Worldwide	Case(s)	Validated	11242109[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_11242109[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

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/69088
This record as JSON: /data/d/69088.json