ORPHA:248

Autosomal recessive hypohidrotic ectodermal dysplasia

Synonyms: AR-HED

This disease is described under Hypohidrotic ectodermal dysplasia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive hypohidrotic ectodermal dysplasia	AR-HED
fr	Dysplasie ectodermique hypohidrotique autosomique récessive	AR-HED · DEH-AR
de	Dysplasie, ektodermale hypohidrotische, autosomal-rezessive	= en
es	Displasia ectodérmica hipohidrótica autosómica recesiva	DEH-AR
it	Displasia ectodermica ipoidrotica autosomica recessiva	AR-HED · Displasia ectodermica anidrotica autosomica recessiva
nl	Autosomaal recessieve hypohidrotische ectodermale dysplasie	= en
pt	Displasia ectodérmica hipohidrótica autossómica recessiva	= en
pl	Autosomalna recesywna hipohydrotyczna dysplazja ektodermalna	AR-HED · Autosomalna recesywna anhydrotyczna dysplazja ektodermalna
cs	Autozomálně recesivní hypohidrotická ektodermální dysplázie	AR-HED · Autozomálně recesivní anhidrotická ektodermální dysplázie
uk	Аутосомно-рецесивна гіпогідротична ектодермальна дисплазія	AR-HED · Аутосомно-рецесивна ангідротична ектодермальна дисплазія
zh	常染色体隐性遗传少汗性外胚层发育不良	常染色体隐性遗传无汗性外胚层发育不良
tr	Otozomal resesif hipohidrotik ektodermal displazi	AR-HED · Otozomal Çekinik anhidrotik ektodermal displazi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	224900	BTNT		validated
OMIM	614941	BTNT		validated
OMIM	618535	BTNT		validated
ICD-10	Q82.4	NTBT	attributed	validated
ICD-11	LD27.02	NTBT	index	validated
MONDO	0016619	E		validated
MeSH	D053360	E		validated
UMLS	C0406702	E		validated
GARD	2057	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:238468Hypohidrotic ectodermal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare odontological diseases

No children.

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CSTB	Disease-causing germline mutation(s) in	Assessed	HGNC:2482	ENSG00000160213	601145	21q22.3	cystatin B	30425301[PMID]
EDAR	Disease-causing germline mutation(s) in	Assessed	HGNC:2895	ENSG00000135960	604095	2q13	ectodysplasin A receptor
EDARADD	Disease-causing germline mutation(s) in	Assessed	HGNC:14341	ENSG00000186197	606603	1q42.3-q43	EDAR associated via death domain
WNT10A	Disease-causing germline mutation(s) in	Assessed	HGNC:13829	ENSG00000135925	606268	2q35	Wnt family member 10A

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet 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.

10 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001231	Abnormal fingernail morphology
HP:0008388	Abnormal toenail morphology
HP:0001595	Abnormality of the hair
HP:0000958	Dry skin
HP:0002213	Fine hair
HP:0000685	Hypoplasia of teeth
HP:0006323	Premature loss of primary teeth
Frequent (79-30%)
HP:0006482	Abnormal dental morphology
HP:0001596	Alopecia
HP:0000966	Hypohidrosis