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Results: 20

1.

Hereditary lymphedema type I

Milroy disease is characterized by lower-limb lymphedema, present at birth as pedal edema or developing soon after. Occasionally it develops later in life. The severity of edema shows both inter- and intrafamilial variability. Swelling is usually bilateral but can be asymmetric. The degree of edema can progress but in some instances can improve, particularly in early years. Other features sometimes associated with Milroy disease include hydrocele (37% of males), prominent veins (23%), upslanting toenails (14%), papillomatosis (10%), and urethral abnormalities in males (4%). Cellulitis, which can damage the lymphatic vessels, occurs in approximately 20% of affected individuals, with infection significantly more likely in males than females. [from GeneReviews]

MedGen UID:
309963
Concept ID:
C1704423
Disease or Syndrome
2.

Error occurred: cannot get document summary

ID:
775793

3.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
4.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
5.

Congenital onset

MedGen UID:
382231
Concept ID:
C2673956
Finding
6.

Lymphedema

MedGen UID:
320553
Concept ID:
C1835229
Finding
7.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
8.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
9.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
10.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
11.

MedGen UID:
141817
Concept ID:
C0524631
12.

Lymphadenopathy

A clinical finding indicating that a lymph node is enlarged. Causes include viral and bacterial infections and cancers that affect the lymph nodes. [from NCI]

MedGen UID:
96929
Concept ID:
C0497156
Finding
13.

Lymphatic Diseases

The lymphatic system is a network of tissues and organs. It is made up mainly of lymph vessels, lymph nodes and lymph. Lymph vessels, which are different from blood vessels, carry fluid called lymph throughout your body. Lymph contains white blood cells that defend you against germs. Throughout the vessels are lymph nodes. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
14.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
15.

Lymphedema

Edema due to obstruction of lymph vessels or disorders of the lymph nodes. [from MeSH]

MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
16.

History of lymphadenopathy

MedGen UID:
744664
Concept ID:
C1997617
Finding
17.

Hereditary lymphedema type II

MedGen UID:
739495
Concept ID:
C1704424
Disease or Syndrome
18.

Lymphedema of uncertain etiology

MedGen UID:
725777
Concept ID:
C1304426
Disease or Syndrome
19.

Error occurred: cannot get document summary

ID:
449863

20.

Lymphedema praecox

Meige lymphedema is a condition that affects the normal function of the lymphatic system. The lymphatic system transports fluids and immune cells throughout the body. Meige lymphedema is characterized by the abnormal transport of lymph fluid. When this fluid builds up abnormally, it causes swelling (lymphedema). Meige lymphedema is classified as a primary lymphedema, meaning that the malfunctioning of the lymphatic system is present from birth (congenital). Meige lymphedema is one of the few primary lymphedemas that does not have any signs or symptoms affecting other parts of the body. Individuals with Meige lymphedema usually develop swelling during puberty. The swelling typically occurs in the lower legs and feet. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the thin tubes that carry lymph fluid (lymphatic vessels). [from GHR]

MedGen UID:
309964
Concept ID:
C1704425
Disease or Syndrome

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