Cardiomyopathy, and Myocardial infarction

Medium match CARDIOMYOPATHY, DILATED, 1V; CMD1V

• Cardiomyopathy
• Congestive heart failure
• Dementia
• Dilated cardiomyopathy
• Syncope

SOURCES: OMIM MESH MENDELIAN

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

• Cardiomyopathy
• Atrial septal defect
• Congestive heart failure
• Arrhythmia
• Dyspnea

SOURCES: OMIM MESH MENDELIAN

Medium match CARDIOMYOPATHY, DILATED, 1Y; CMD1Y

• Pain
• Respiratory distress
• Cardiomyopathy
• Edema
• Atrial septal defect

SOURCES: OMIM MESH MENDELIAN

Medium match TAKAYASU ARTERITIS

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

• Seizures
• Muscle weakness
• Anemia
• Hypertension
• Fever

SOURCES: ORPHANET OMIM MENDELIAN

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

• Hypertension
• Hepatomegaly
• Myopathy
• Congestive heart failure
• Splenomegaly

SOURCES: OMIM ORPHANET MENDELIAN

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

• Scoliosis
• Muscle weakness
• Pain
• Cataract
• Flexion contracture

SOURCES: ORPHANET OMIM MENDELIAN

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

• Intellectual disability
• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Muscular hypotonia

SOURCES: OMIM ORPHANET MENDELIAN

Medium match PSEUDOXANTHOMA ELASTICUM

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

• Scoliosis
• Growth delay
• High palate
• Visual impairment
• Hypertension

SOURCES: ORPHANET OMIM MENDELIAN

Medium match ARTERIAL TORTUOSITY SYNDROME

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

• Intellectual disability
• Global developmental delay
• Scoliosis
• Hypertelorism
• Strabismus

SOURCES: ORPHANET MENDELIAN

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: ORPHANET OMIM MENDELIAN