ORPHA:69735
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Synonyms: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome |
| fr | Syndrome d'hypotrichose-lymphoedème-télangiectasie-atteinte rénale | Syndrome d'hypotrichose-lymphoedème-télangiectasie-glomérulonéphrite membranoproliférative |
| de | Hypotrichose-Lymphödem-Teleangiektasie-Nierenfunktionsstörung-Syndrom | Hypotrichose-Lymphödem-Teleangiektasie-membranoproliferative Glomerulonephritis-Syndrom |
| es | Síndrome de hipotricosis-linfedema-telangiectasia-defecto renal | |
| it | Ipotricosi - linfedema - telangectasia | |
| nl | Hypotrichose - lymfoedeem - teleangiëctasie - renaal defect-syndroom | |
| pt | Síndrome de hipotricose-linfedema-telangiectasia-defeito renal | Síndrome de hipotricose-linfedema-telangiectasia-glomerulonefrite membranoproliferativa |
| pl | Hipotrichoza - obrzęk limfatyczny - telangiektazja | = en |
| cs | Syndrom zahrnující hypotrichózu, lymfedém, teleangiektázii a vady ledvin | Syndrom zahrnující hypotrichózu, lymfedém, teleangiektázii a membranoproliferativní glomerulonefritidu |
| uk | Синдром гіпотрихозу-лімфедеми-телеангіектазії-ниркової недостатності | Синдром гіпотрихозу-лімфедеми-телеангіектазії-мембранопроліферативного гломерулонефриту |
| zh | 少毛症-淋巴水肿-毛细血管扩张-肾缺损综合征 | 少毛症-淋巴水肿-毛细血管扩张-膜增生性肾小球肾炎综合征 |
| tr | Hipotrikoz-lenfödem-telenjiektazi-renal defekt sendromu | Hipotrikoz-lenfödem-telenjiektazi-membranoproliferatif glomerülonefrit sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137940 | BTNT | validated | |
| OMIM | 607823 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | attributed | validated |
| UMLS | C4317151 | E | validated | |
| GARD | 2492 | 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 (2):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:568044Primary lymphedema with systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2087Glomerulonephritis-sparse hair-telangiectasis syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX18 | Disease-causing germline mutation(s) in | Assessed | HGNC:11194 | ENSG00000203883 | 601618 | 20q13.33 | SRY-box transcription factor 18 | 24697860[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | ORPHANET_12740761[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.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0001596 | Alopecia | |
| HP:0100869 | Palmar telangiectasia | |
| HP:0100870 | Plantar telangiectasia | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0000965 | Cutis marmorata | |
| HP:0000034 | Hydrocele testis | |
| HP:0100540 | Palpebral edema | |
| Occasional (29-5%) | ||
| HP:0001541 | Ascites | |
| HP:0004334 | Dermal atrophy | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002202 | Pleural effusion | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 12740761[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69735
- This record as JSON: /data/d/69735.json