ORPHA:238468
Hypohidrotic ectodermal dysplasia
Synonyms: HED
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypohidrotic ectodermal dysplasia | HED |
| fr | Dysplasie ectodermique hypohidrotique | DEH · HED |
| de | Dysplasie, ektodermale hypohidrotische | = en |
| es | Displasia ectodérmica hipohidrótica | DEH |
| it | Displasia ectodermica ipoidrotica | = en |
| nl | Hypohidrotische ectodermale dysplasie | = en |
| pt | Displasia ectodérmica hipohidrótica | = en |
| pl | Hipohydrotyczna dysplazja ektodermalna | Anhydrotyczna dysplazja ektodermalna · HED |
| cs | Hypohidrotická ektodermální dysplázie | Anhidrotická ektodermální dysplázie · HED |
| uk | Гіпогідротична ектодермальна дисплазія | Ангідротична ектодермальна дисплазія · HED |
| zh | 少汗性外胚层发育不良 | 无汗性外胚层发育不良 |
| tr | Hipohidrotik ektodermal displazi | HED · Anhidrotik ektodermal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129490 | BTNT | validated | |
| OMIM | 224900 | BTNT | validated | |
| OMIM | 305100 | BTNT | validated | |
| OMIM | 614940 | BTNT | validated | |
| OMIM | 614941 | BTNT | validated | |
| ICD-10 | Q82.4 | E | specific | validated |
| ICD-11 | LD27.02 | E | specific | validated |
| MONDO | 0016535 | E | validated | |
| UMLS | C5848103 | E | validated | |
| GARD | 76 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98604Congenital alacrima
rare genetic diseases; rare ophthalmic disorders - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:2731Taurodontia-absent teeth-sparse hair syndrome moved to · inactive
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Genes
0 direct · 11 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CSTB | ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:2482 | ENSG00000160213 | 601145 | 21q22.3 | cystatin B | 30425301[PMID] |
| EDA | ORPHA:181X-linked hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:3157 | ENSG00000158813 | 300451 | Xq13.1 | ectodysplasin A | |
| EDA2R | ORPHA:181X-linked hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:17756 | ENSG00000131080 | 300276 | Xq12 | ectodysplasin A2 receptor | 22889853[PMID] |
| EDAR | ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:2895 | ENSG00000135960 | 604095 | 2q13 | ectodysplasin A receptor | |
| EDAR | ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:2895 | ENSG00000135960 | 604095 | 2q13 | ectodysplasin A receptor | |
| EDARADD | ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:14341 | ENSG00000186197 | 606603 | 1q42.3-q43 | EDAR associated via death domain | |
| EDARADD | ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:14341 | ENSG00000186197 | 606603 | 1q42.3-q43 | EDAR associated via death domain | |
| KDF1 | ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:26624 | ENSG00000175707 | 616758 | 1p36.11 | keratinocyte differentiation factor 1 | 27838789[PMID] |
| LRP6 | ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:6698 | ENSG00000070018 | 603507 | 12p13.2 | LDL receptor related protein 6 | 36553593[PMID] |
| TRAF6 | ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:12036 | ENSG00000175104 | 602355 | 11p12 | TNF receptor associated factor 6 | |
| WNT10A | ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:13829 | ENSG00000135925 | 606268 | 2q35 | Wnt family member 10A |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6.7 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
44 annotations · validated 2026-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000958 | Dry skin | |
| HP:0004528 | Generalized hypotrichosis | |
| HP:0000668 | Hypodontia | |
| HP:0000966 | Hypohidrosis | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0000674 | Anodontia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002099 | Asthma | |
| HP:0002299 | Brittle hair | |
| HP:0000698 | Conical tooth | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0011968 | Feeding difficulties | |
| HP:0500093 | Food allergy | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0011457 | Loss of eyelashes | |
| HP:0001106 | Periorbital hyperpigmentation | |
| HP:0002217 | Slow-growing hair | |
| HP:0009886 | Trichorrhexis nodosa | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0410400 | Absent sebaceous glands | |
| HP:0000498 | Blepharitis | |
| HP:0100783 | Breast aplasia | |
| HP:0200020 | Corneal erosion | |
| HP:0007957 | Corneal opacity | |
| HP:0000633 | Decreased lacrimation | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0001508 | Failure to thrive | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000607 | Periorbital wrinkles | |
| HP:0002216 | Premature graying of hair | |
| HP:0011220 | Prominent forehead | |
| HP:0000403 | Recurrent otitis media | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0000246 | Sinusitis | |
| HP:0000963 | Thin skin | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 36138666[PMID]_20301291[PMID]_31942145[PMID]_34897795[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238468
- This record as JSON: /data/d/238468.json