Mccune-Albright Syndrome (MAS)

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Disease Ontology 12 DOID:1858 OMIM® 57 174800 604308 KEGG 36 H00501 H00661 ICD9CM 34 756.54 NCIt 50 C34610 SNOMED-CT 67 726029005 ICD10 32 Q78.1

MESH via Orphanet 45 D005357 D005359 ICD10 via Orphanet 33 Q78.1 UMLS via Orphanet 72 C0016063 C0016065 C0242292 Orphanet 58 ORPHA249 ORPHA562 ORPHA93276 MedGen 41 C0016065 C0242292 C1858556 SNOMED-CT via HPO 68 103276001 111266001 123527003 123982003 12584003 127034005 128241005 128664001 134291007 15188001 15253005 16331000 17276009 197446008 201066002 201067006 203468000 22450000 22640007 232209000 235595009 237662005 237735008 248099006 254838004 254956000 263681008 267100006 268029009 275437005 30144000 33688009 343087000 34486009 36517007 3716002 400179000 409712001 424263008 433096001 4598005 47212006 47270006 47944004 4996001 5468008 62250003 64217002 65956007 66999008 67362008 68235000 698065002 707598004 74107003 75694006 76000001 76085008 78058005 7973008 79883001 80182007 8074002 89859004 91019004 92118007 95568003 95828007 more UMLS 71 C0016063 C0016065 C0242292

MedlinePlus Genetics : ⁴³ McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome.In addition to bone abnormalities, affected individuals usually have light brown patches of skin called café-au-lait spots, which may be present from birth. The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, café-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body.Girls with McCune-Albright syndrome may reach puberty early. These girls often have menstrual bleeding by age 2. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty.Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. Rarely, affected individuals develop Cushing syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2.Problems in other organs and systems, such as noncancerous (benign) gastrointestinal growths called polyps and other abnormalities, can also occur in McCune-Albright syndrome.

MalaCards based summary : Mccune-Albright Syndrome, also known as mass syndrome, is related to fibrous dysplasia/mccune-albright syndrome and gigantism. An important gene associated with Mccune-Albright Syndrome is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. The drugs Etidronic acid and Risedronate have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and heart, and related phenotypes are precocious puberty and ovarian cyst

Disease Ontology : ¹² A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has material basis in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.

GARD : ²⁰ MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways. MASS is an acronym for features of the disorder that may be present: Mitral valve prolapse - a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and bulge (prolapse) upward into the left atrium. Aortic root dilation - borderline, non-progressive enlargement of the section of the aorta where the aorta and heart meet. Unlike in Marfan syndrome, aortic complications such as dissection and aneurysm usually do not occur. However some authors believe there may be an increased risk for aortic complications. Skin striae (stretch marks) - skin may have stretch marks even without changes in weight. Skeletal features - possible features include curvature of the spine (scoliosis), chest wall deformities, and joint hypermobility. People with MASS phenotype also have nearsightedness (myopia), but they do not experience eye lens dislocation (ectopia lentis) as in Marfan syndrome. MASS phenotype has rarely been diagnosed in people with a mutation in the FBN1 gene (which usually causes Marfan syndrome), but in most cases the cause of MASS phenotype is not yet known. People diagnosed with MASS phenotype who do have a FBN1 mutation may later be diagnosed with Marfan syndrome as additional features develop, which would convey a high risk of aortic complications. It may be hard to distinguish MASS phenotype from early features of Marfan syndrome in young individuals. Management focuses on the specific symptoms and severity in each person. It is important to monitor signs and symptoms over time, such as having annual heart and eye exams. This is especially important for people under 20 years of age who potentially have Marfan syndrome, since additional features may develop with age.

OMIM® : ⁵⁷ Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080) (Lumbroso et al., 2004). (174800) (Updated 05-Mar-2021)

KEGG : ³⁶ Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition.

UniProtKB/Swiss-Prot : ⁷³ McCune-Albright syndrome: Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha.
Overlap connective tissue disease: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.

Wikipedia : ⁷⁴ McCune-Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems.... more...

Clinical features from OMIM®:

174800 604308 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00240-S-1	9.4	SST
2	Decreased viability	GR00249-S	9.4	APC GH1 IGFBP3 SOST
3	Decreased viability	GR00381-A-1	9.4	GNAS
4	Decreased viability	GR00386-A-1	9.4	ADCY1 GNAS IBSP
5	Decreased viability	GR00402-S-2	9.4	DIO2 FBN1 IGFBP3

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