Traits

Traits linked to DCDC2

doublecortin domain containing 2

The Human Phenotype Ontology links 52 traits to DCDC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	Hvor ofte det ses
Enlarged liver	Altid
Jaundice	Altid
Liver failure	Altid
Portal fibrosis	Altid
Sclerosing cholangitis	Altid
Slowed or blocked flow of bile from liver	Altid
Bile duct proliferation	Ofte (30–79 %)
Ductal bile plugs	Ofte (30–79 %)
Hepatic bridging fibrosis	Ofte (30–79 %)
Hepatic fibrosis	Ofte (30–79 %)
Malformation of the hepatic ductal plate	Ofte (30–79 %)
Reduced number of intrahepatic bile ducts	Ofte (30–79 %)
Scar tissue replaces healthy tissue in the liver	Ofte (30–79 %)
Accumulation of fluid in the abdomen	Nogle gange (5–29 %)
Enlarged vein in esophagus	Nogle gange (5–29 %)
Excessive buildup of connective tissue and scarring of liver at birth	Nogle gange (5–29 %)
Biliary cirrhosis	Ikke registreret

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Abnormal renal interstitial morphology	Ofte (30–79 %)
Chronic kidney disease	Ofte (30–79 %)
Hyperechogenic kidneys	Ofte (30–79 %)
Nephronophthisis	Ofte (30–79 %)
Reduced renal corticomedullary differentiation	Ofte (30–79 %)
Renal corticomedullary cysts	Ofte (30–79 %)
Renal interstitial fibrosis	Ofte (30–79 %)
Small kidneys	Ofte (30–79 %)
Stage 5 chronic kidney disease	Ofte (30–79 %)
Thickening of the tubular basement membrane	Ofte (30–79 %)
Tubular luminal dilatation	Ofte (30–79 %)
Kidney degeneration	Nogle gange (5–29 %)
Vesicoureteral reflux	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Extreme thirst	Ofte (30–79 %)
Abnormal cerebral white matter morphology	Nogle gange (5–29 %)
Aggressive behavior	Nogle gange (5–29 %)
Agitation	Nogle gange (5–29 %)
Attention deficit	Nogle gange (5–29 %)
Diffuse cerebral atrophy	Nogle gange (5–29 %)
Intellectual disability, mild	Nogle gange (5–29 %)
Suicidal ideation	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated gamma-glutamyltransferase level	Altid
Abnormal urinary electrolyte concentration	Ofte (30–79 %)
Clay colored stools	Ofte (30–79 %)
Elevated alkaline phosphatase	Ofte (30–79 %)
High bili total	Ofte (30–79 %)
High liver enzymes	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Increased spleen size	Altid
Portal hypertension	Altid
Enlarged liver and spleen	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Carotid artery dilatation	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Low number of red blood cells or hemoglobin	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Sensorineural hearing impairment	Altid

Abnormality of the integument

Trait	Hvor ofte det ses
Itching	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DCDC2 and how often each is seen. Find out more at hpo.jax.org.

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