ORPHA:98813
Hypohidrotic ectodermal dysplasia with immunodeficiency
Synonyms: HED-ID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypohidrotic ectodermal dysplasia with immunodeficiency | HED-ID |
| fr | Dysplasie ectodermique hypohidrotique avec déficit immunitaire | = en |
| de | Hypohidrotische ektodermale Dysplasie mit Immundefekt | = en |
| es | Displasia ectodérmica hipohidrótica con inmunodeficiencia | EDA-ID · HED-ID |
| it | Displasia ectodermica ipoidrotica con immunodeficienza | Displasia ectodermica anidrotica con immunodeficienza · HED-ID |
| nl | Hypohidrotische ectodermale dysplasie met immuundeficiëntie | = en |
| pt | Displasia ectodérmica hipohidrótica com imunodeficiência | = en |
| pl | Hipohydrotycnza dysplazja ektodermallna z niedoborem odporności | Anhidrotyczna dysplazja ektodermalna z niedoborem odporności · EDA-ID |
| cs | Hypohidrotická ektodermální dysplázie spojená s imunodeficiencí | Anhidrotická ektodermální dysplázie spojená s imunodeficiencí · EDA-ID · HED-ID |
| uk | Гіпогідротична ектодермальна дисплазія з імунодефіцитом | Ангідротична ектодермальна дисплазія з імунодефіцитом · EDA-ID · HED-ID |
| zh | 少汗型外胚层发育不良伴免疫缺陷 | 无汗性外胚层发育不良伴免疫缺陷 |
| tr | İmmün yetmezliği ile seyreden hipohidrotik ektodermal displazi | EDA-ID · HED-ID · İmmün yetmezlik ile seyreden anhidrotik ektodermal displazi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300636 | BTNT | validated | |
| OMIM | 612132 | BTNT | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.02 | NTBT | index | validated |
| MONDO | 0010293 | E | validated | |
| MeSH | C536181 | E | validated | |
| UMLS | C1846006 | E | validated | |
| GARD | 9936 | 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 (6):
- 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 - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:319612OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency referred to · inactive
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Genes
2 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 | |
| NFKBIA | Disease-causing germline mutation(s) in | Assessed | HGNC:7797 | ENSG00000100906 | 164008 | 14q13.2 | NFKB inhibitor alpha | 18412279[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| 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.
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HPO phenotypes
34 annotations · validated 2023-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010701 | Abnormal immunoglobulin level | |
| HP:0000698 | Conical tooth | |
| HP:0000968 | Ectodermal dysplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0000966 | Hypohidrosis | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0033581 | Absent peripheral lymph nodes in presence of infection | |
| HP:0002028 | Chronic diarrhea | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0005404 | Increased B cell count | |
| HP:0100828 | Increased T cell count | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0011274 | Recurrent mycobacterial infections | |
| HP:0000403 | Recurrent otitis media | |
| Occasional (29-5%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0031188 | Genital edema | |
| HP:0040075 | Hypopituitarism | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0020101 | Invasive fungal infection | |
| HP:0008404 | Nail dystrophy | |
| HP:0000938 | Osteopenia | |
| HP:0010741 | Pedal edema | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0031691 | Severe viral infection | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 22566850[PMID]_22517901[PMID]_28597146[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98813
- This record as JSON: /data/d/98813.json