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Items: 7

1.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
2.

Myelofibrosis with myeloid metaplasia

Replacement of bone marrow by fibrous tissue. [from HPO]

MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
3.

Meckel syndrome type 1

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12.2; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24.31; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11.2; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; and MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q31. [from OMIM]

MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
4.

Myelofibrosis

Replacement of bone marrow by fibrous tissue. [from HPO]

MedGen UID:
506636
Concept ID:
CN167700
Finding
5.

Meckel-Gruber syndrome

A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. [from NCI]

MedGen UID:
120513
Concept ID:
C0265215
Congenital Abnormality; Disease or Syndrome
6.

Myelofibrosis

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
[from GHR]

MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
7.

Myeloproliferative disorder

Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. [from HPO]

MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
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