Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Synonyms: HELIX syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome | HELIX syndrome |
| fr | Syndrome d'hypohidrose-déséquilibre électrolytique-dysfonctionnement des glandes lacrymales-ichtyose-xérostomie | Syndrome HELIX |
| de | Hypohydrosis-Elektrolytstörung-Tränendrüsenfunktionsstörung-Ichthyosis-Xerostomie-Syndrom | HELIX-Syndrom |
| es | Síndrome de hipohidrosis-desequilibrio electrolítico-disfunción de las glándulas lagrimales-ictiosis-xerostomía | Síndrome HELIX |
| it | Sindrome ipoidrosi-squilibrio elettrolitico-disfunzione della ghiandola lacrimale-ittiosi-xerostomia | Sindrome HELIX |
| nl | Hypohidrose - verstoorde elektrolytenbalans - disfunctie van traanklieren - ichthyosis- xerostomie-syndroom | HELIX-syndroom |
| pt | Síndrome de hipohidrose-desequilibrio electrolítico-disfunção glândula lacrinal-ictiose-xerostomia | |
| pl | Zespół hipohydrozy-zaburzeń elektrolitowych-niewydolności gruczołu łzowego-rybiej łuski-suchości jamy ustnej | Zespół HELIX |
| cs | Syndrom zahrnující hypohidrózu, elektrolytovou nerovnováhu, dysfunkci slzné žlázy, ichtyózu a xerostomii | Syndrom HELIX |
| uk | Синдром гіпогідрозу-електролітного дисбалансу-дисфункціїя слізних залоз-іхтіозу-ксеростомії | Синдром HELIX |
| zh | 少汗症-电解质失衡-泪腺功能障碍-鱼鳞癣-口腔干燥综合症 | = en |
| tr | Hipohidroz-elektrolit dengesizliği-lakrimal bez disfonksiyonu-iktiyoz-kserostomi sendromu | HELIX sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617671 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | attributed | validated |
| MONDO | 0060564 | E | validated | |
| UMLS | C4522164 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98604Congenital alacrima
rare genetic diseases; rare ophthalmic disorders - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLDN10 | Disease-causing germline mutation(s) in | Assessed | HGNC:2033 | ENSG00000134873 | 617579 | 13q32.1 | claudin 10 | 28674042[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | DOI: https://doi.org/10.1053/j.ajkd.2018.08.015[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI: https://doi.org/10.1053/j.ajkd.2018.08.015[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/528105
- This record as JSON: /data/d/528105.json