AtlasCaracterística
Abnormalities of the fingers
Nome clínico: Abnormal finger morphology
An anomaly of a finger.
Resumo
- Também conhecida como
- Abnormality of finger
- Sistema do corpo
- Abnormality of limbsAbnormality of the musculoskeletal system
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Acrescente .json ao endereço da página, ou peça application/json, para a ler como JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-finger-morphology.json"
page <- fromJSON(url)
page$trait$nameLeia os genes ligados a Abnormalities of the fingers, e o resto do seu genoma, com um só teste.
A partir de 449 $Envio gratuito · Resultados em 6–8 semanas
Obter o meu Genome Test31 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.
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- Shwachman-Diamond SyndromeReads 2 of these genesEFL1SBDSAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
Show 27 more reports
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesAKT1About this report →
- Noonan SyndromeReads 3 of these genesHRASKRASNRASAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesHRASKRASNRASAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesATP13A2About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCYP27A1SIL1About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesATP13A2CYP27A1FIG4SIL1VAC14About this report →
- Parkinson DiseaseReads 1 of these genesATP13A2About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesVAC14About this report →
- Epilepsy (Full Panel)Reads 2 of these genesATP6V1B2TBC1D24About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesSBDSKRASAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesCYP27A1FIG4About this report →
- Intellectual DisabilityReads 2 of these genesADNPSMARCA2About this report →
- Lysosomal Storage DiseaseReads 1 of these genesCYP27A1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesATP13A2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesCYP27A1About this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesCOG7About this report →
Leia os genes ligados a Abnormalities of the fingers, e o resto do seu genoma, com um só teste.
A partir de 449 $Envio gratuito · Resultados em 6–8 semanas
Obter o meu Genome Test22 genes associados a Abnormalities of the fingers
As alterações nestes genes causam doenças raras em que se observa Abnormalities of the fingers. A maioria das pessoas com esta característica não tem nenhuma dessas doenças, e um gene desta lista não diz nada sobre o genoma de ninguém.
| Gene | Com que frequência se observa | Doenças |
|---|---|---|
| AKT1AKT serine/threonine kinase 1 | Muito frequente (80–99%) | Em 1 doença |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Muito frequente (80–99%) | Em 1 doença |
| PAX3paired box 3 | Muito frequente (80–99%) | Em 1 doença |
| RNU4ATACRNA, U4atac small nuclear | Muito frequente (80–99%) | Em 1 doença |
| TBC1D24TBC1 domain family member 24 | Muito frequente (80–99%) | Em 1 doença |
| TBX3T-box transcription factor 3 | Muito frequente (80–99%) | Em 1 doença |
| ADNPactivity dependent neuroprotector homeobox | Frequente (30–79%) | Em 1 doença |
| ATP13A2ATPase cation transporting 13A2 | Frequente (30–79%) | Em 1 doença |
| COG7component of oligomeric golgi complex 7 | Frequente (30–79%) | Em 1 doença |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Frequente (30–79%) | Em 1 doença |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Frequente (30–79%) | Em 1 doença |
| FIG4FIG4 phosphoinositide 5-phosphatase | Frequente (30–79%) | Em 1 doença |
| PTDSS1phosphatidylserine synthase 1 | Frequente (30–79%) | Em 1 doença |
| SIL1SIL1 nucleotide exchange factor | Frequente (30–79%) | Em 1 doença |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Frequente (30–79%) | Em 1 doença |
| VAC14VAC14 component of PIKFYVE complex | Frequente (30–79%) | Em 1 doença |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Raramente (1–4%) | Em 1 doença |
| EFL1elongation factor like GTPase 1 | Raramente (1–4%) | Em 1 doença |
| SBDSSBDS ribosome maturation factor | Raramente (1–4%) | Em 1 doença |
| HRASHRas proto-oncogene, GTPase | Não registado | Em 1 doença |
| KRASKRas proto-oncogene, GTPase | Não registado | Em 1 doença |
| NRASNRAS proto-oncogene, GTPase | Não registado | Em 1 doença |
Com que frequência ocorre entre as pessoas com uma das condições do gene, a mais comum entre elas, segundo o registo da Human Phenotype Ontology. Estas páginas descrevem características e a investigação que as sustenta; não são um diagnóstico, e é ao médico ou ao conselheiro genético que deve perguntar sobre sintomas.
Características mais específicas
- Long fingers72 genes
- Abnormality of the thumb41 genes
- Slender finger36 genes
- Broad finger32 genes
- Absent/small fingers24 genes
- Increased mobility in finger joint19 genes
- Swan neck-like deformities of the fingers10 genes
- Finger joint contracture8 genes
- Atypical position of finger7 genes
- Abnormality of the fingertips6 genes
- Finger swelling5 genes
- Abnormal finger flexion crease3 genes
- Trident hand3 genes
- Mallet finger2 genes
- Curved fingers1 gene
- Sausage fingers1 gene
- Spindle-shaped finger1 gene
- Abnormal 3rd finger morphology
- Abnormal 4th finger morphology
- Abnormality of index finger
- Abnormality of the finger bones
- Abnormality of the little finger
Características mais gerais
Origem destes dados
- Human Phenotype Ontology, versão 2026-09-01: a característica, os seus nomes, a sua definição e os genes que lhe estão associados. Saiba mais em hpo.jax.org.
- Versão de dados 2026.10.19-9814e911.
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