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Topic Review
SDHB Gene
succinate dehydrogenase complex iron sulfur subunit B
  • 770
  • 24 Dec 2020
Topic Review
FERMT1 Gene
Fermitin family member 1
  • 770
  • 25 Dec 2020
Topic Review
Familial Pityriasis Rubra Pilaris
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
  • 770
  • 25 Dec 2020
Topic Review
Chorea-Acanthocytosis
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder.
  • 769
  • 24 Dec 2020
Topic Review
Chylomicron retention disease
Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food.
  • 769
  • 24 Dec 2020
Topic Review
OCRL Gene
OCRL, inositol polyphosphate-5-phosphatase
  • 769
  • 24 Dec 2020
Topic Review
Novel Splicing Variant in Acylglycerol Kinase
Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins.
  • 769
  • 13 Jan 2022
Topic Review
MKKS Gene
McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.
  • 768
  • 22 Dec 2020
Topic Review
CYP11B2 Gene
Cytochrome P450 Family 11 Subfamily B Member 2: The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). 
  • 768
  • 23 Dec 2020
Topic Review
BAP1 Tumor Predisposition Syndrome
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.
  • 768
  • 24 Dec 2020
Topic Review
PCBD1 Gene
pterin-4 alpha-carbinolamine dehydratase 1
  • 768
  • 25 Dec 2020
Topic Review
KRT10 Gene
Keratin 10
  • 767
  • 23 Dec 2020
Topic Review
Optic Atrophy Type 1
Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 767
  • 24 Dec 2020
Topic Review
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
  • 767
  • 24 Dec 2020
Topic Review
ENPP1 Gene
Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). 
  • 767
  • 24 Dec 2020
Topic Review
Hystrix-Like Ichthyosis with Deafness
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
  • 766
  • 23 Dec 2020
Topic Review
Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
  • 766
  • 23 Dec 2020
Topic Review
MAP2K1 Gene
Mitogen-activated protein kinase kinase 1
  • 766
  • 23 Dec 2020
Topic Review
Langer Mesomelic Dysplasia
Langer mesomelic dysplasia is a disorder of bone growth.
  • 766
  • 23 Dec 2020
Topic Review
EXOSC3 Gene
Exosome component 3: The EXOSC3 gene provides instructions for making a protein known as exosome component 3. 
  • 766
  • 24 Dec 2020
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