Rare diseases

autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life

rare and fatal autosomal recessive neurodegenerative disorder

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

Aphallia is a congenital malformation in which the phallus (penis or clitoris) is absent. It is also known as penile agenesis in the case of males. The word is derived . It is classified as a disorder of sex development.

lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

rare disease in which a human simultaneously has diabetes insipidus, diabetes, optic nerve atrophy and deafness syndrome

Human disease

rare genetic disorder caused by mutations in the gene ALMS1

rare disease

retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness

form of small vessel vascular dementia caused by damage to the white brain matter

extremely rare inherited human disorder

hormonal disorder sometimes resulting from adrenal gland removal

human disease

rare recessive genetic disorder

skin disease

inherited skin disorder

congenital disorder of urinary system

Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

human disease

inflammatory lung disease

syndrome

genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs

rare from of inflammatory arthritis characterized by fevers, rash, and joint pain

medical condition

Muscular dystrophy that classically weakens the muscles of the face (facio), shoulder girdle (scapulo) and upper arm (humerus). Weakness usually is asymmetrical and develops in other areas of the body as well, such as the abdomen and shin.

rare genetic syndrome in which affected children are predisposed to develop Wilms tumour

Erythromelalgia, or '''Mitchell's disease' (after Silas Weir Mitchell), is a rare vascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are episodically blocked (frequently on and off daily), then become hyperemic and inflamed. There is severe burning pain (in the small fiber sensory nerves) and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder (i.e. a disorder in and of itself or a symptom of another

medical condition

bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts

Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubim.

gastro-vascular disorder in which the third and final portion of the duodenum is compressed between the abdominal aorta (AA) and the overlying superior mesenteric artery

extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase

hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22

lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically

Human disease

Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in cystic lung destruction. It predominantly affects women, especially during childbearing years. The term sporadic LAM is used for patients with LAM not associated with tuberous sclerosis complex (TSC), while TSC-LAM refers to LAM that is associated with TSC.

degenerative brain disease caused by prions

rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea

Human disease

human disease

Pycnodysostosis () is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD.

human disease

thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin

a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans

genetic disorder that affects the skin, hair, teeth, nails, and central nervous system

human disease

Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function

Hydranencephaly is a condition in which the brain's cerebral hemispheres are absent to a great degree and the remaining cranial cavity is filled with cerebrospinal fluid.

autosomal recessive form of ichthyosis apparent at birth

syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients

organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy

Adermatoglyphia is an extremely rare genetic disorder that prevents the development of fingerprints. Five extended families worldwide are known to be affected by this condition.

human disease

skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs

congenital disorder of the reproductive system

Human disease

outdated medical diagnosis for intersex persons with ovotesticular tissue