ORPHA:1810

Autosomal dominant hypohidrotic ectodermal dysplasia

Synonyms: AD-HED

This disease is described under Hypohidrotic ectodermal dysplasia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant hypohidrotic ectodermal dysplasia	AD-HED
fr	Dysplasie ectodermique hypohidrotique autosomique dominante	AD-HED · DEH-AD
de	Dysplasie, ektodermale hypohidrotische, autosomal-dominante	= en
es	Displasia ectodérmica hipohidrótica autosómica dominante	DEH-AD
it	Displasia ectodermica ipoidrotica autosomica dominante	AD-HED · Displasia ectodermica anidrotica autosomica dominante
nl	Autosomaal dominante hypohidrotische ectodermale dysplasie	= en
pt	Displasia ectodérmica hipohidrótica autossómica dominante	= en
pl	Autosomalna dominująca hipohydrotyczna dysplazja ektodermalna	AD-HED · Autosomalna dominująca anhydrotyczna dysplazja ektodermalna
cs	Autozomálně dominantní hypohidrotická ektodermální dysplázie	AD-HED · Autozomálně dominantní anhidrotická ektodermální dysplázie
uk	Аутосомно-домінантна гіпогідротична ектодермальна дисплазія	AD-HED · Аутосомно-домінантна ангідротична ектодермальна дисплазія
zh	常染色体显性遗传少汗性外胚层发育不良	常染色体显性遗传无汗性外胚层发育不良
tr	Otozomal dominant hipohidrotik ektodermal displazi	AD-HED · Otozomal dominant anhidrotik ektodermal displazi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	129490	BTNT		validated
OMIM	614940	BTNT		validated
OMIM	617337	BTNT		validated
ICD-10	Q82.4	NTBT	attributed	validated
ICD-11	LD27.02	NTBT	index	validated
MONDO	0015884	E		validated
UMLS	C0265331	E		validated
GARD	2048	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.

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
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
KDF1	Disease-causing germline mutation(s) in	Assessed	HGNC:26624	ENSG00000175707	616758	1p36.11	keratinocyte differentiation factor 1	27838789[PMID]
LRP6	Disease-causing germline mutation(s) in	Assessed	HGNC:6698	ENSG00000070018	603507	12p13.2	LDL receptor related protein 6	36553593[PMID]
TRAF6	Disease-causing germline mutation(s) in	Assessed	HGNC:12036	ENSG00000175104	602355	11p12	TNF receptor associated factor 6

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		40 cases	Worldwide	Case(s)	Validated	9375732[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.

15 annotations · validated 2018-01-23

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0006482	Abnormal dental morphology
HP:0000164	Abnormality of the dentition
HP:0000668	Hypodontia
HP:0000966	Hypohidrosis
HP:0006323	Premature loss of primary teeth
HP:0002231	Sparse body hair
HP:0008070	Sparse hair
HP:0000963	Thin skin
Frequent (79-30%)
HP:0001231	Abnormal fingernail morphology
Occasional (29-5%)
HP:0001000	Abnormality of skin pigmentation
HP:0000457	Depressed nasal ridge
HP:0000964	Eczematoid dermatitis
HP:0002047	Malignant hyperthermia
HP:0011220	Prominent forehead
HP:0012471	Thick vermilion border