Gen
ELN
elastin
- HGNC 3327(åbnes i en ny fane)
- Ensembl-gen ENSG00000049540(åbnes i en ny fane)
- NCBI Gene 2006(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 7q11.23
- Koordinater
- Kromosom 7: 74.028.173–74.069.907 (GRCh38)
- Exoner
- 33 exoner fordelt over 41,7 kb
- Protein
- 724 aminosyrer
- Arvelighed
- Autosomal dominant
- Også kendt som
- WBS, WS, SVAS
- MANE Select-transkript
- ENST00000252034.12NM_000501.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs ELN og resten af dit genom med én test.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Cutis Laxa
Cutis laxa (CL) er en arvelig eller erhvervet bindevævssygdom, kendetegnet ved rynket, overskydende og slap uelastisk hud, forbundet med skelet- og udviklingsmæssige afvigelser og i nogle tilfælde med alvorlig involvering af kroppens organer. Flere forskellige former for arvelig CL er beskrevet, som skelnes ud fra arvegangen og forskelle i omfanget af indre organinvolvering, tilhørende afvigelser og sygdommens sværhedsgrad.
- ClinGen vurderer forbindelsen som definitivt
- 6 GenCC-indsendere vurderer den som definitiv eller stærk
Arvelige medfødte hjertefejl
- Supravalvulær aortastenoseAutosomal dominant
En indsnævring af aorta lige over hjerteklappen, forårsaget af ændringer i ELN, som også kan påvirke andre arterier.
- 3 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Viden om den understøtter scanninger af hjerte og blodkar samt screening af familiemedlemmer.
Arvegang
- Autosomal dominant
- Én ændret kopi, fra enten far eller mor, er nok. En forælder med én ændret kopi overfører den til hvert barn med en chance på en ud af to.
Sådan er ELN opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 3,4 kb af genets 41,7 kb; 2.175 af disse baser koder for proteinet.
Sådan læser en genomtest ELN
154
positioner i ELN, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 41,7 kb af ELN, inklusive introner, og ikke kun de 3,4 kb eksoner.
Træk knyttet til ELN
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, ELN kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the cardiovascular system
- Narrowing of peripheral lung artery
- Abnormal heart rate
- Abnormality of the cardiovascular system
- Cutis marmorata
- Mucoid extracellular matrix accumulation
- Supravalvular aortic stenosis
- Abnormal left ventricular function
- Abnormality of the cerebral blood vessels
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- Angina pectoris
- Aortic regurgitation
- Ascending aortic dissection
- Bulge in wall of large artery that carries blood away from heart
- Cardiac failure
- Descending aortic dissection
- Disruption of blood oxygen supply to brain
- Enlarged heart
- Fainting spell
- High blood pressure
- Hole in heart wall separating two lower heart chambers
- Mitral regurgitation
- Mitral valve prolapse
- Narrowing of an artery
- Narrowing of coronary artery
- Narrowing of pulmonic valve
- Plaque build-up in arteries supplying blood to heart
- Renovascular hypertension
- Stroke
- Systolic heart murmur
- Abdominal aortic aneurysm
- Abnormal cardiac septum morphology
- Abnormal carotid artery morphology
- Abnormal endocardium morphology
- An opening in the wall separating the top two chambers of the heart
- Aortic arch aneurysm
- Aortic valve has two leaflets rather than three
- Brain aneurysm
- Bulge in wall of root of large artery that carries blood away from heart
- Carotid artery dilatation
- Depleted blood volume
- Descending thoracic aorta aneurysm
- Dilatation of the ventricular cavity
- Enlarged and thickened heart muscle
- Heart attack
- Ischemic stroke
- Mini stroke
- Myxomatous mitral valve degeneration
- Narrowing of aorta
- Narrowing of kidney artery
- Overriding aorta
- Patent ductus arteriosus
- Peripheral arterial stenosis
- Portal hypertension
- Sudden cardiac death
- Tear in inner wall of large artery that carries blood away from heart
- Tetralogy of Fallot
- Narrowing of lung artery
Abnormality of head or neck
- Abnormality of the neck
- Abnormally large tongue
- Broad forehead
- Coarse facial features
- Drooping lower lip
- Elf-like facial appearance
- Eye folds
- Full lower lip
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- High forehead
- Little lower jaw
- Long philtrum
- Narrow face
- Narrow opening between the eyelids
- Open bite
- Periorbital edema
- Pointed chin
- Short nose
- Wide mouth
- Wide nasal bridge
- Abnormal facial shape
- Abnormal tooth enamel
- Abnormality of dental shape
- Abnormally small head
- Bad bite
- Beaked nose
- Broad nasal tip
- Cheekbone underdevelopment
- Decreased size of tooth
- Depressed nasal bridge
- Failure of development of between one and six teeth
- Full cheeks
- Fullness around the eyes
- Medial flaring of the eyebrow
- Narrow forehead
- Nasal tip, upturned
- Open mouth
- Delayed cranial suture closure
- Dental cavities
- Gum enlargement
- High, narrow palate
- Increased nuchal translucency
- Prominent forehead
- Receding chin
- Redundant neck skin
- Retinal arteriolar tortuosity
- Triangular face
- Zygomatic flattening
- Extra bones within cranial sutures
- Little foramen magnum
- Midface retrusion
Abnormality of the nervous system
- Abnormal gait
- Abnormal shape of nervous system
- Abnormal social behavior
- Abnormal speech pattern
- Abnormality of balance
- Abnormality of extrapyramidal motor function
- Anxiety
- Ataxia
Vis 35 træk mere
- Depression
- Dysgraphia
- Fear of loud sounds
- Hyperacusis
- Increased reflexes
- Intellectual disability
- Involuntary movements
- Lack of coordination of movement
- Overfriendliness
- Tremor
- Attention deficit
- Autism
- Behavioral abnormality
- Difficulty staying or falling asleep
- Impaired visuospatial constructive cognition
- Incoordination
- Obsessive compulsive behavior
- Short attention span
- Abnormal diencephalon morphology
- Atrophy/Degeneration involving the corticospinal tracts
- Brisk reflexes
- Chiari malformation
- Chiari type I malformation
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Difficulty articulating speech
- Difficulty sleeping
- Dural ectasia
- Global developmental delay
- Inability to move vocal cords
- Loss of developmental milestones
- Motor delay
- Small cerebellum
- Spina bifida occulta
- Autism spectrum disorder
- Obsessive-compulsive trait
Abnormality of the musculoskeletal system
- Abnormal shape of pelvic girdle bone
- Abnormality of connective tissue
- Abnormal curve of the backbone
- Double-Jointed
- Flexed joint that cannot be straightened
- Hernia
- Hunched back
- Involuntary muscle stiffness, contraction, or spasm
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- Joint stiffness
- Kyphoscoliosis
- Low muscle tone
- Osteopenia
- Osteoporosis
- Prominent swayback
- Rounded shoulders
- Abnormal vertebral body morphology
- Abnormality of the sternum
- Delayed bone maturation
- Funnel chest
- Fusion of joints
- Increased bone mineral density
- Muscle tissue disease
- Scoliosis
- Vertebral segmentation defect
- Generalized decreased muscle tone
Abnormality of the genitourinary system
- Abnormality of the bladder
- Abnormally shaped kidney
- Bladder diverticulum
- Frequent urinary tract infections
- Narrowing of the urethra
- Pelvic kidney
- Renal failure
- Sagging uterus
Vis 14 træk mere
- Abnormal tubulointerstitial morphology
- Functional abnormality of male internal genitalia
- Increased calcium level in kidney
- Kidney stone
- Multiple kidney cysts
- Polycystic ovaries
- Pyelonephritis
- Short penis
- Small kidneys
- Underdeveloped penis
- Undescended testes
- Vesicoureteral reflux
- Absent kidney on one side
- Enuresis
Laboratory abnormality
- High blood calcium levels
- Diabetes mellitus
- Elevated blood creatine phosphokinase
- Elevated urine calcium levels
- High urine protein levels
- Abnormal circulating lipid concentration
- Deficient in vitamin D
- Noninsulin-dependent diabetes
Vis 2 træk mere
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). ELN-genet: elastin. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/eln
Dante Labs. ELN-genet: elastin [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/eln
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger