Disease – Page 18 – CheckOrphan

Autoimmune progesterone dermatitis

Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. As progesterone production is linked to menstrual cycles, the rash occurs usually in the week before menstruation until a few days after menstruation starts.

Autoimmune Pulmonary Alveolar Proteinosis

Autoimmune Pulmonary Alveolar Proteinosis (aPAP) is a rare, severe lung disease (7–10 per million) where autoantibodies block GM-CSF signaling, causing surfactant buildup in the alveoli. Affecting mostly adults aged 30–60, it leads to dyspnea, cough, and hypoxemic respiratory failure. Whole-lung lavage is the standard treatment.

Autosomal dominant compelling helio ophthalmic outburst syndrome

It is a genetic autosomal dominant trait that causes variably difficult to control sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection. The condition affects 18-35% of the population, but its exact mechanism of action is not well understood.

Autosomal Dominant Hypocalcemia Type 1

Autosomal Dominant Hypocalcemia Type 1 (ADH1) is a rare genetic disorder causing low blood calcium (hypocalcemia) with high calcium in the urine (hypercalciuria) due to a gain-of-function mutation in the CASR gene. This mutation makes the calcium-sensing receptor protein overactive, leading to a decreased parathyroid hormone (PTH) secretion and reduced calcium reabsorption in the kidneys. Symptoms vary, from being asymptomatic to experiencing muscle spasms, tingling sensations, or seizures.

Autosomal Dominant Optic Atrophy

Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic neuropathy, causing slow, progressive, and often symmetric vision loss in both eyes, typically starting in childhood (4-6 years old). It is primarily caused by mutations in the OPA1 gene, leading to dysfunction of retinal ganglion cells and mitochondrial dysfunction. While often restricted to the eye (non-syndromic), some cases (ADOA-plus) involve neurological issues like hearing loss.

Autosomal dominant partial epilepsy with auditory features

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses.

Autosomal Recessive ACBD6-related disorder

This disease is characterised by delays in the development of cognitive and motor skills, and is associated with dystonia and parkinsonism

Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations

Autosomal recessive nonsyndromic congenital nuclear cataract

A rare recessively inherited type of congenital cataract that is not associated with any other abnormality.

Autosomal recessive polycystic kidney disease

Autosomal recessive polycystic kidney disease is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. It is the recessive form of polycystic kidney disease. and it is associated with a group of congenital fibrocystic syndromes.

Avasthey syndrome

A very rare syndrome characterized by pulmonary hypertension, lymphedema and malformation of brain blood vessels.

Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss

A rare syndrome characterized mainly by heart defects, hearing impairment and a congenital eye disorder called Axenfeld-Rieger anomaly.

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is primarily an eye disorder that affects the development of the eye and it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.
About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.

The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.

Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.

Axial mesodermal dysplasia spectrum

A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.

Axial osteomalacia

Axial osteomalacia is a rare osteosclerotic disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton. In this disorder an enzyme defect affects bone formation that primarily affects the ribs and iliac crest (hip bone).

Axial osteosclerosis

Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders.

Ayazi syndrome

Ayazi syndrome is a syndrome characterized by choroideremia, congenital deafness and obesity.

B-cell lymphomas

The B-cell lymphomas are types of non-Hodgkin lymphoma affecting B cells. It develops more frequently in immunocompromised individuals (such as those with AIDS.)

Baber’s syndrome

A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.

Babesiosis

Babesiosis is a parastic infection by a particular protozoa (Babesia) which is transmitted through tick bites. The disease produces symptoms similar to malaria. Babesia infection can range in severity from asymptomatic to life threatening. The infection is both treatable and preventable. Human babesiosis is an uncommon but emerging disease in the Northeastern and Midwestern United States and parts of Europe, and sporadic throughout the rest of the world. It occurs in warm months.

Balo disease

It is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). It is a very rare, rapidly progressive form of multiple sclerosis (inflammatory disease of the brain and spinal cord). It is characterized by bands of intact myelin (the sheath of fatty substances surrounding nerve fibers), alternating with rings of loss of myelin (demyelination), in various parts of the brain and brain stem.

Banki syndrome

Banki syndrome is a rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities.

Bannayan-Zonana syndrome

Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males.

It is one of the PTEN hamartoma tumor syndromes (PHTS), a spectrum of disorders caused by mutations in a gene called PTEN. BRRS is a disorder present from birth that is characterized by macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. The symptoms of BRRS vary from person to person. Treatment is based on the symptoms present; however, because of the increased risk of developing cancer in people with the PHTS, increased cancer surveillance is recommended.

Banti’s syndrome

Banti's syndrome is a rare condition where chronic congestive spleen enlargement causes it to destroy red blood cells too early. This syndrome is characterized by abnormal enlargement of the spleen (splenomegaly) due to obstruction of blood flow in some veins and abnormally increased blood pressure (hypertension) within the veins of the liver (e.g., hepatic or portal veins), or the spleen (splenic veins).

Bantu siderosis

Bantu siderosis is an iron overload disorder initially observed in South African people. It involves absorption of too much iron from the diet.The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Bantu siderosis results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved.

Diseases