Požymis
Absence of tears in the eyes
Klinikinis pavadinimas: Alacrima
The complete absence of aqueous tear production. Typically, this is clinically measured by a Schirmer I test result of 0 millimeters of wetting on the filter paper strip after 5 minutes.
Santrauka
- Taip pat vadinama
- Absent tear secretion, 0 mm wetting on Schirmer I test, Absent lacrimal fluids, Absent lacrimation on Schirmer I test, Absent tear flow on Schirmer I test, Absolute aqueous tear deficiency on Schirmer I test
- Kūno sistema
- Abnormality of the eye
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/alacrima.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Absence of tears in the eyes, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test20 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Familial Glucocorticoid DeficiencyReads 3 of these genesAAASNDC1MRAPAbout this report →
- Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)Reads 1 of these genesGMPPAAbout this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
Show 16 more reports
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- Otofaciocervical Syndrome Type 2 (PAX1)Reads 1 of these genesPAX1About this report →
- MedulloblastomaReads 1 of these genesELP1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesELP1DSTAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR3FGFR2About this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Familial HypomagnesemiaReads 1 of these genesCLDN10About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGQAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesTRAPPC11About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesELP1DSTAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesSLC12A2About this report →
- Epilepsy (Full Panel)Reads 1 of these genesPIGQAbout this report →
- Intellectual DisabilityReads 1 of these genesSETBP1About this report →
Vienu tyrimu sužinokite genus, susijusius su Absence of tears in the eyes, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test19 genų susiję su Absence of tears in the eyes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Absence of tears in the eyes. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AAASaladin WD repeat nucleoporin | Visada | 2 ligose |
| CLDN10claudin 10 | Visada | 1 ligoje |
| FGF10fibroblast growth factor 10 | Visada | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Visada | 1 ligoje |
| GMPPAGDP-mannose pyrophosphorylase A | Visada | 2 ligose |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| PAX1paired box 1 | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| SLC12A2solute carrier family 12 member 2 | Visada | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Visada | 1 ligoje |
| TP63tumor protein p63 | Visada | 1 ligoje |
| ELP1elongator acetyltransferase complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| NGLY1N-glycanase 1 | Labai dažnai (80–99%) | 2 ligose |
| TRAPPC11trafficking protein particle complex subunit 11 | Labai dažnai (80–99%) | 2 ligose |
| DSTdystonin | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| MADDMAP kinase activating death domain | Dažnai (30–79%) | 2 ligose |
| MRAPmelanocortin 2 receptor accessory protein | Dažnai (30–79%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
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