Traits

Traits linked to TCF4

transcription factor 4

The Human Phenotype Ontology links 163 traits to TCF4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Intellectual disability, severe	Alltid
Repetitive movements	Alltid
Absent speech development	Svært ofte (80–99 %)
Ataxia	Svært ofte (80–99 %)
Difficulty finding words	Svært ofte (80–99 %)
Difficulty sleeping	Svært ofte (80–99 %)
Echoing another person's speech	Svært ofte (80–99 %)
Global developmental delay	Svært ofte (80–99 %)
Inability to speak	Svært ofte (80–99 %)
Intellectual disability	Svært ofte (80–99 %)
IQ between 34 and 49	Svært ofte (80–99 %)
Specific learning disability	Svært ofte (80–99 %)
Aplasia/Hypoplasia of the corpus callosum	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Pauses in breathing while sleeping	Ofte (30–79 %)
Small cerebral cortex	Ofte (30–79 %)
Small hippocampus	Ofte (30–79 %)
Underdevelopment of part of brain called corpus callosum	Ofte (30–79 %)
Aggressive behavior	Noen ganger (5–29 %)
Autism spectrum disorder	Noen ganger (5–29 %)
Depression	Noen ganger (5–29 %)
Happy demeanor	Noen ganger (5–29 %)
Self-injurious behavior	Noen ganger (5–29 %)
Ventriculomegaly	Noen ganger (5–29 %)
Encephalopathy	Sjelden (1–4%)
Incoordination	Ikke registrert
Motor delay	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Acid reflux	Alltid
Abnormal biliary tract morphology	Svært ofte (80–99 %)
Constipation	Svært ofte (80–99 %)
Feeding difficulties	Svært ofte (80–99 %)
Inflammation of the esophagus	Svært ofte (80–99 %)
Slowed or blocked flow of bile from liver	Svært ofte (80–99 %)
Stomach hernia	Svært ofte (80–99 %)
Abnormal large intestine physiology	Ofte (30–79 %)
Accumulation of fluid in the abdomen	Ofte (30–79 %)
Enlarged liver	Ofte (30–79 %)
Hepatic fibrosis	Ofte (30–79 %)
Scar tissue replaces healthy tissue in the liver	Ofte (30–79 %)
Ulcerative colitis	Ofte (30–79 %)
Abdominal pain	Noen ganger (5–29 %)
Adenocarcinoma of the large intestine	Noen ganger (5–29 %)
Bile duct cancer	Noen ganger (5–29 %)
Celiac disease	Noen ganger (5–29 %)
Chronic liver failure	Noen ganger (5–29 %)
Gallstones	Noen ganger (5–29 %)
Hepatocellular carcinoma	Noen ganger (5–29 %)
Jaundice	Noen ganger (5–29 %)
Liver inflammation	Noen ganger (5–29 %)
Pancreatic inflammation	Noen ganger (5–29 %)
Acute liver failure	Sjelden (1–4%)
Enlarged colon lacking nerve cells	Sjelden (1–4%)
Neoplasm of the gallbladder	Sjelden (1–4%)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Coarse facial features	Alltid
Deep philtrum	Alltid
Development of small head that was not present at birth	Alltid
Flared nostrils	Alltid
Sparse medial eyebrow	Alltid
Wide mouth	Alltid
Widely spaced teeth	Alltid
Abnormal dental position	Svært ofte (80–99 %)
Abnormality of the palate	Svært ofte (80–99 %)
Abnormally small head	Svært ofte (80–99 %)
Full cheeks	Svært ofte (80–99 %)
Full lips	Svært ofte (80–99 %)
Narrow forehead	Svært ofte (80–99 %)
Nasal tip, upturned	Svært ofte (80–99 %)
Overhanging nasal tip	Svært ofte (80–99 %)
Prominent nasal bridge	Svært ofte (80–99 %)
Short neck	Svært ofte (80–99 %)
Short philtrum	Svært ofte (80–99 %)
Unerupted adult teeth	Svært ofte (80–99 %)
Upward slanting of the opening between the eyelids	Svært ofte (80–99 %)
Triangular nasal tip	Ofte (30–79 %)
Fetal nuchal edema	Noen ganger (5–29 %)
Open mouth	Ikke registrert
Wide nasal bridge	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Dropped arches	Alltid
Small hand	Alltid
Broad fingertip	Svært ofte (80–99 %)
Curvature of finger	Svært ofte (80–99 %)
Pes valgus	Svært ofte (80–99 %)
Short long bone of foot	Svært ofte (80–99 %)
Single transverse palmar crease	Svært ofte (80–99 %)
Tapered finger	Svært ofte (80–99 %)
Narrow foot	Ofte (30–79 %)
Palmar telangiectasia	Ofte (30–79 %)
Prominent fingertip pads	Ofte (30–79 %)
Short 5th long bone of foot	Ofte (30–79 %)
Clubbing of fingers and toes	Noen ganger (5–29 %)
Overlapping toe	Noen ganger (5–29 %)
Short 4th long bone of foot	Noen ganger (5–29 %)
Short palm	Noen ganger (5–29 %)
Curvature of digit	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Deeply set eye	Alltid
Abnormal corneal endothelium morphology	Svært ofte (80–99 %)
Abnormal Descemet membrane morphology	Svært ofte (80–99 %)
Astigmatism	Svært ofte (80–99 %)
Close sighted	Svært ofte (80–99 %)
Corneal opacity	Svært ofte (80–99 %)
Decreased clarity of vision	Svært ofte (80–99 %)
Reduced number of corneal endothelial cells	Svært ofte (80–99 %)
Cross-eyed	Ofte (30–79 %)
Difficulties with night vision	Ofte (30–79 %)
Eye movement-induced pain	Ofte (30–79 %)
Visual loss	Ofte (30–79 %)
Uveitis	Sjelden (1–4%)
Corneal guttata	Ikke registrert
Visual impairment	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid retention	Svært ofte (80–99 %)
Elevated alkaline phosphatase of hepatic origin	Ofte (30–79 %)
Fever	Ofte (30–79 %)
High liver enzymes	Ofte (30–79 %)
Decreased circulating vitamin K concentration	Noen ganger (5–29 %)
Deficient in vitamin D	Noen ganger (5–29 %)
Fluid around lungs	Noen ganger (5–29 %)
Low albumin	Noen ganger (5–29 %)
Type 1 diabetes	Noen ganger (5–29 %)
Vitamin A deficiency	Noen ganger (5–29 %)
Vitamin E deficiency	Noen ganger (5–29 %)
Amyloid deposition	Ikke registrert
Corneal stromal edema	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Dilated superficial abdominal veins	Ofte (30–79 %)
Enlarged liver and spleen	Ofte (30–79 %)
Increased spleen size	Ofte (30–79 %)
Portal hypertension	Ofte (30–79 %)
Spider hemangioma	Ofte (30–79 %)
Cardiac failure	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Persistent blue color of hands or feet	Ofte (30–79 %)
Frontal upsweep of hair	Noen ganger (5–29 %)
Increased nail curvature	Noen ganger (5–29 %)
Itching	Noen ganger (5–29 %)
Patchy loss of skin color	Noen ganger (5–29 %)
Spinal dimple	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Alltid
Scoliosis	Ofte (30–79 %)
Diffuse skeletal muscle wasting	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Osteoporosis	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Prolonged prothrombin time	Noen ganger (5–29 %)
Hodgkin lymphoma	Sjelden (1–4%)
Abnormal eosinophil morphology	Ikke registrert
Histiocytosis	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Svært ofte (80–99 %)
Growth delay	Svært ofte (80–99 %)
Weight loss	Ofte (30–79 %)
Growth delay as children	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Thickened helices	Alltid
Abnormal helix morphology	Svært ofte (80–99 %)
Cupped ear	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Renal failure	Noen ganger (5–29 %)
Short penis	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Intermittent overbreathing	Svært ofte (80–99 %)
Abnormal pattern of respiration	Ofte (30–79 %)
Rapid breathing	Ofte (30–79 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Autoimmunity	Svært ofte (80–99 %)
Recurrent systemic pyogenic infections	Ikke registrert

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Polyclonal elevation of circulating IgM concentration	Noen ganger (5–29 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Accessory nipple	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Thyroid gland inflammation	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TCF4 and how often each is seen. Find out more at hpo.jax.org.

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