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Egenskap
Short finger
Abnormally short finger associated with developmental hypoplasia.
Sammanfattning
- Även kallad
- Stubby finger, Hypoplastic digits, Hypoplastic fingers, Hypoplastic/small fingers, Stubby fingers
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Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-finger.json"
page <- fromJSON(url)
page$trait$nameShort fingerHP:0009381
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Läs generna kopplade till Short finger, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test61 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.
- Epilepsy (Full Panel)Reads 21 of these genesFLNAPIGALMNB2ARXCACNA1ECDKL5About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- ACAN-Related Short StatureReads 1 of these genesACANAbout this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
Show 57 more reports
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 5 of these genesHESX1LHX3LHX4POU1F1PROP1About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Hypogonadotropic HypogonadismReads 5 of these genesHESX1LHX3LHX4POU1F1PROP1About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGAPIGPPIGQAbout this report →
- Inherited IchthyosesReads 3 of these genesALOX12BALOXE3ABCA12About this report →
- Congenital Myasthenic SyndromeReads 3 of these genesCHRNA1CHRNDLRP4About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Achondrogenesis panelReads 1 of these genesSLC26A2About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1RAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Intellectual DisabilityReads 6 of these genesTBL1XR1RPL10CASKGRIN1SCN2ASMAD4About this report →
- Hepatic Porphyria DisordersReads 1 of these genesPPOXAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesFIG4AIFM1TRPV4About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesVAC14PNKPAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesSLC26A2About this report →
- PorphyriaReads 1 of these genesPPOXAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesOFD1TCTN3About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- OsteopetrosisReads 1 of these genesCTSKAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesFIG4PNKPAIFM1TRPV4About this report →
- Lysosomal Storage DiseaseReads 2 of these genesCTSKASAH1About this report →
- Retinitis PigmentosaReads 2 of these genesIFT140OFD1About this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesTNXBAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesALMS1About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesARXAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesZMYM2About this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesFIG4VAC14ASAH1PNKPAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesASAH1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Thyroid CancerReads 1 of these genesGNASAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPNKPAbout this report →
- Leigh SyndromeReads 1 of these genesAIFM1About this report →
- Hearing Loss and DeafnessReads 1 of these genesAIFM1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesPIGAAbout this report →
- Primary Mitochondrial DiseaseReads 1 of these genesAIFM1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRMRPAbout this report →
Läs generna kopplade till Short finger, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test75 gener kopplade till Short finger
Förändringar i dessa gener orsakar sällsynta tillstånd där Short finger förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| ACANaggrecan | Alltid | I 1 tillstånd |
| DDR2discoidin domain receptor tyrosine kinase 2 | Alltid | I 1 tillstånd |
| FBN1fibrillin 1 | Alltid | I 1 tillstånd |
| FLNAfilamin A | Alltid | I 1 tillstånd |
| FLNBfilamin B | Alltid | I 1 tillstånd |
| GPC3glypican 3 | Alltid | I 1 tillstånd |
| IFT140intraflagellar transport 140 | Alltid | I 1 tillstånd |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tillstånd |
| PPOXprotoporphyrinogen oxidase | Alltid | I 1 tillstånd |
| PRKG2protein kinase cGMP-dependent 2 | Alltid | I 1 tillstånd |
| TBL1XR1TBL1X/Y related 1 | Alltid | I 2 tillstånd |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mycket ofta (80–99 %) | I 2 tillstånd |
| SLC26A2solute carrier family 26 member 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| ASPHaspartate beta-hydroxylase | Ofta (30–79 %) | I 1 tillstånd |
| CTSKcathepsin K | Ofta (30–79 %) | I 1 tillstånd |
| LBRlamin B receptor | Ofta (30–79 %) | I 1 tillstånd |
| LMNB2lamin B2 | Ofta (30–79 %) | I 1 tillstånd |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| OFD1OFD1 centriole and centriolar satellite protein | Ofta (30–79 %) | I 1 tillstånd |
| RYR3ryanodine receptor 3 | Ofta (30–79 %) | I 1 tillstånd |
| TNXBtenascin XB | Ofta (30–79 %) | I 1 tillstånd |
| VAC14VAC14 component of PIKFYVE complex | Ofta (30–79 %) | I 1 tillstånd |
| ALMS1ALMS1 centrosome and basal body associated protein | Ibland (5–29 %) | I 1 tillstånd |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Ibland (5–29 %) | I 1 tillstånd |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Ibland (5–29 %) | I 1 tillstånd |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ibland (5–29 %) | I 1 tillstånd |
| CDC42BPBCDC42 binding protein kinase beta | Ibland (5–29 %) | I 1 tillstånd |
| HESX1HESX homeobox 1 | Ibland (5–29 %) | I 2 tillstånd |
| IGF1Rinsulin like growth factor 1 receptor | Ibland (5–29 %) | I 1 tillstånd |
| LHX3LIM homeobox 3 | Ibland (5–29 %) | I 1 tillstånd |
| LHX4LIM homeobox 4 | Ibland (5–29 %) | I 1 tillstånd |
| POU1F1POU class 1 homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| PROP1PROP paired-like homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| RPL10ribosomal protein L10 | Ibland (5–29 %) | I 2 tillstånd |
| ZMYM2zinc finger MYM-type containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| ARXaristaless related homeobox | Sällan (1–4%) | I 1 tillstånd |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sällan (1–4%) | I 1 tillstånd |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sällan (1–4%) | I 1 tillstånd |
| CASKcalcium/calmodulin dependent serine protein kinase | Sällan (1–4%) | I 1 tillstånd |
| CDKL5cyclin dependent kinase like 5 | Sällan (1–4%) | I 1 tillstånd |
Visa 35 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| DMXL2Dmx like 2 | Sällan (1–4%) | I 1 tillstånd |
| GNAO1G protein subunit alpha o1 | Sällan (1–4%) | I 1 tillstånd |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sällan (1–4%) | I 1 tillstånd |
| GRM7glutamate metabotropic receptor 7 | Sällan (1–4%) | I 1 tillstånd |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sällan (1–4%) | I 1 tillstånd |
| LGI1leucine rich glioma inactivated 1 | Sällan (1–4%) | I 1 tillstånd |
| NEUROD2neuronal differentiation 2 | Sällan (1–4%) | I 1 tillstånd |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sällan (1–4%) | I 1 tillstånd |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sällan (1–4%) | I 1 tillstånd |
| PNKPpolynucleotide kinase 3'-phosphatase | Sällan (1–4%) | I 1 tillstånd |
| RHOBTB2Rho related BTB domain containing 2 | Sällan (1–4%) | I 1 tillstånd |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sällan (1–4%) | I 1 tillstånd |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sällan (1–4%) | I 1 tillstånd |
| SIK1salt inducible kinase 1 | Sällan (1–4%) | I 1 tillstånd |
| SLC25A22solute carrier family 25 member 22 | Sällan (1–4%) | I 1 tillstånd |
| SLC32A1solute carrier family 32 member 1 | Sällan (1–4%) | I 1 tillstånd |
| TRIM8tripartite motif containing 8 | Sällan (1–4%) | I 1 tillstånd |
| ABCA12ATP binding cassette subfamily A member 12 | Inte registrerat | I 1 tillstånd |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Inte registrerat | I 1 tillstånd |
| BMPR1Bbone morphogenetic protein receptor type 1B | Inte registrerat | I 1 tillstånd |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Inte registrerat | I 1 tillstånd |
| CHRNDcholinergic receptor nicotinic delta subunit | Inte registrerat | I 1 tillstånd |
| CHRNGcholinergic receptor nicotinic gamma subunit | Inte registrerat | I 1 tillstånd |
| GNASGNAS complex locus | Inte registrerat | I 1 tillstånd |
| GPX4glutathione peroxidase 4 | Inte registrerat | I 1 tillstånd |
| LRP4LDL receptor related protein 4 | Inte registrerat | I 1 tillstånd |
| NOGnoggin | Inte registrerat | I 1 tillstånd |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Inte registrerat | I 1 tillstånd |
| PORCNporcupine O-acyltransferase | Inte registrerat | I 1 tillstånd |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Inte registrerat | I 1 tillstånd |
| SMAD4SMAD family member 4 | Inte registrerat | I 1 tillstånd |
| TCTN3tectonic family member 3 | Inte registrerat | I 1 tillstånd |
| TRPS1transcriptional repressor GATA binding 1 | Inte registrerat | I 1 tillstånd |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Inte registrerat | I 1 tillstånd |
| ZMIZ1zinc finger MIZ-type containing 1 | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
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Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.19-9814e911.
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The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Från 449 $
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