Hittner Hirsch Kreh syndrome
A very rare syndrome characterized by small eyes, heart disease and hearing loss.
Diseases
Hm syndrome
HMG CoA lyase deficiency
A rare inherited metabolic disorder where deficiency of a particular enzyme impairs the processing of amino acids in food to create energy and causes various symptoms. Stresses on the body such as infection, fasting and heavy exercise can trigger an episode
HMG CoA synthetase deficiency
An inherited metabolic defect due to the deficiency of an enzyme (HMG CoA synthetase) needed to form ketone bodies. Symptoms are often preceded by periods of fasting or illness
Ho Kaufman Mcalister syndrome
A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate.
Hodgkin disease- X-linked pseudoautosomal
An inherited form of Hodgkin disease which is a common cancer of the lymph node.
Hodgkin lymphoma- adult
Hodgkin's lymphoma — formerly known as Hodgkin's disease — is a cancer of the lymphatic system, which is part of your immune system.
In Hodgkin's lymphoma, cells in the lymphatic system grow abnormally and may spread beyond the lymphatic system. As Hodgkin's lymphoma progresses, it compromises your body's ability to fight infection.
Hodgkin's lymphoma is one of two common types of cancers of the lymphatic system. The other type, non-Hodgkin's lymphoma, is far more common.
Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four sub-types:
- Nodular sclerosing Hodgkin lymphoma.
- Mixed cellularity Hodgkin lymphoma.
- Lymphocyte depletion Hodgkin lymphoma.
- Lymphocyte-rich classical Hodgkin lymphoma
Hodgkin lymphoma- childhood
Hodgkin's lymphoma — formerly known as Hodgkin's disease — is a cancer of the lymphatic system, which is part of your immune system.
In Hodgkin's lymphoma, cells in the lymphatic system grow abnormally and may spread beyond the lymphatic system. As Hodgkin's lymphoma progresses, it compromises your body's ability to fight infection.
Hodgkin's lymphoma is one of two common types of cancers of the lymphatic system. The other type, non-Hodgkin's lymphoma, is far more common.
Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four sub-types:
- Nodular sclerosing Hodgkin lymphoma.
- Mixed cellularity Hodgkin lymphoma.
- Lymphocyte depletion Hodgkin lymphoma.
- Lymphocyte-rich classical Hodgkin lymphoma
Hodgkin lymphoma- during pregnancy
A cancer of the lymph system that occurs during pregnancy. The dilemma is that treatment can't be initiated until the baby is delivered or terminated. If the pregnancy is in the early stages, termination is recommended. If the pregnancy is in the later stages when the lymphoma occurs, the baby is usually delivered as early as safely possible in order to commence cancer treatment as soon as possible. The more prompt the treatment, the better the prognosis
Hodgkin’s disease
Hodgkin's lymphoma — formerly known as Hodgkin's disease — is a cancer of the lymphatic system, which is part of your immune system.
In Hodgkin's lymphoma, cells in the lymphatic system grow abnormally and may spread beyond the lymphatic system. As Hodgkin's lymphoma progresses, it compromises your body's ability to fight infection.
Hodgkin's lymphoma is one of two common types of cancers of the lymphatic system. The other type, non-Hodgkin's lymphoma, is far more common.
Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four sub-types:
- Nodular sclerosing Hodgkin lymphoma.
- Mixed cellularity Hodgkin lymphoma.
- Lymphocyte depletion Hodgkin lymphoma.
- Lymphocyte-rich classical Hodgkin lymphoma
Hollow visceral myopathy
A digestive disorder where the intestines are unable to contract normally and push food through the digestive system. This results in symptoms similar to an obstruction and hence the name pseudo-obstruction. The walls of the affected gastrointestinal tract becomes thin and the muscles that control its motion start to degenerate
Holmes Borden syndrome
A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones
Holmes Collins syndrome
A very rare syndrome characterized mainly by extra fingers, an absent shinbone and a brain cyst
Holoacardius amorphus
A very rare disorder where a twin in the womb doesn't have it's own heart. This second twin is often a very malformed, shapeless mass that acts as a parasite by utilizing the placenta of the normal twin.
Holocarboxylase synthetase deficiency
An inherited disorder where the enzymes that use the vitamin biotin are defective.
Holoprosencephaly
Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip.
Holoprosencephaly caudal dysgenesis
A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain.
Holoprosencephaly deletion 2p
A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
Holoprosencephaly ectrodactyly cleft lip palate
A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
Holoprosencephaly radial heart renal anomalies
A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.
Holoprosencephaly- recurrent infections- and monocytosis
A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
Holt-Oram syndrome
A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
Holzgreve Wagner Rehder syndrome
A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
Homocarnosinosis
A very rare metabolic disorder where a deficiency of homocarnosinase causes a harmful buildup of homcarnosine. Symptoms include mental retardation, retinal pigmentation and spastic diplegia.
Homocystinuria
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form-called cystathionine beta-synthase deficiency, is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.
Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder.
Homocystinuria due to defect in methylation (cbl g)
An inherited organic acid disorder where an enzyme deficiency (methionine synthase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
Homocystinuria due to defect in methylation cbl e
An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
Homocystinuria due to defect in methylation- MTHFR deficiency
A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.
Homologous wasting disease
In most transplants, the patient's body may attempt to reject the transplanted organ (transplant rejection). However, in GVHD, the reverse happens; immune cells from the transplant attack the patient's cells.
Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia, also known as Autosomal recessive hypercholesterolemia (ADH), is characterized by high levels of low-density lipoprotein (LDL) cholesterol, and associated with premature cardiovascular disease and myocardial infarction. Approximately 1:500 individuals worldwide are affected by ADH. Most ADH is caused by genetic variants leading to decreased intracellular uptake of cholesterol. The majority of these cases have familial hypercholesterolemia (FH), which is due to mutations in the LDLR gene, which encodes for the LDL receptor. Approximately 15% of ADH cases have familial defective apolipoprotein B-100 (FDB) due to mutations in the LDL receptor-binding domain of the APOB gene, which encodes for apolipoprotein B-100.