Faster access than browser!
20 relations: Asprosin, Chromosome 15, Craniosynostosis, EGF-like domain, Fibrillin, List of genetic disorders, List of OMIM disorder codes, Lizzie Velásquez, Marfan syndrome, Marfanoid–progeroid–lipodystrophy syndrome, MASS syndrome, Mutation, Pleiotropy, Progeroid syndromes, Scheuermann's disease, SNED1, Spontaneous cerebrospinal fluid leak, Vertebral artery dissection, Weill–Marchesani syndrome, Wiedemann–Rautenstrauch syndrome.
Asprosin
Asprosin is a protein hormone produced by mammals in their fatty (white adipose) tissues that stimulates the liver to release glucose into the blood stream.
New!!: Fibrillin 1 and Asprosin · See more »
Chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans.
New!!: Fibrillin 1 and Chromosome 15 · See more »
Craniosynostosis
Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in which one or more of the fibrous sutures in an infant (very young) skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull.
New!!: Fibrillin 1 and Craniosynostosis · See more »
EGF-like domain
The EGF-like domain is an evolutionary conserved protein domain, which derives its name from the epidermal growth factor where it was first described.
New!!: Fibrillin 1 and EGF-like domain · See more »
Fibrillin
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.
New!!: Fibrillin 1 and Fibrillin · See more »
List of genetic disorders
The following is a list of genetic disorders and if known, type of mutation and the chromosome involved.
New!!: Fibrillin 1 and List of genetic disorders · See more »
List of OMIM disorder codes
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database.
New!!: Fibrillin 1 and List of OMIM disorder codes · See more »
Lizzie Velásquez
Elizabeth Ann Velásquez (born March 13, 1989) is an American motivational speaker, author, and YouTuber.
New!!: Fibrillin 1 and Lizzie Velásquez · See more »
Marfan syndrome
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
New!!: Fibrillin 1 and Marfan syndrome · See more »
Marfanoid–progeroid–lipodystrophy syndrome
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.
New!!: Fibrillin 1 and Marfanoid–progeroid–lipodystrophy syndrome · See more »
MASS syndrome
MASS syndrome is a medical disorder of the connective tissue similar to Marfan syndrome.
New!!: Fibrillin 1 and MASS syndrome · See more »
Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
New!!: Fibrillin 1 and Mutation · See more »
Pleiotropy
Pleiotropy (from Greek πλείων pleion, "more", and τρόπος tropos, "way") occurs when one gene influences two or more seemingly unrelated phenotypic traits.
New!!: Fibrillin 1 and Pleiotropy · See more »
Progeroid syndromes
Progeroid syndromes (PS) are a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.
New!!: Fibrillin 1 and Progeroid syndromes · See more »
Scheuermann's disease
Scheuermann's disease is a self-limiting skeletal disorder of childhood.
New!!: Fibrillin 1 and Scheuermann's disease · See more »
SNED1
SNED1 is a human protein expressed at low levels in a wide range of tissues.
New!!: Fibrillin 1 and SNED1 · See more »
Spontaneous cerebrospinal fluid leak
A spontaneous cerebrospinal fluid leak (SCSFL) is a medical condition in which the cerebrospinal fluid (CSF) surrounding the human brain and spinal cord leaks out of the surrounding protective dural sac for no apparent reason.
New!!: Fibrillin 1 and Spontaneous cerebrospinal fluid leak · See more »
Vertebral artery dissection
Vertebral artery dissection (VAD) is a flap-like tear of the inner lining of the vertebral artery, which is located in the neck and supplies blood to the brain.
New!!: Fibrillin 1 and Vertebral artery dissection · See more »
Weill–Marchesani syndrome
Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities.
New!!: Fibrillin 1 and Weill–Marchesani syndrome · See more »
Wiedemann–Rautenstrauch syndrome
Wiedemann–Rautenstrauch (WR) syndrome, also known as neonatal progeroid syndrome, is an autosomal recessive progeroid syndrome.
New!!: Fibrillin 1 and Wiedemann–Rautenstrauch syndrome · See more »
Redirects here:
FBN1, FBN1 (gene), FBN1 gene, Fibrillin-1, MFS1, Mfs1, Profibrillin.
