U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 6

1.

Glioma susceptibility 3

Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. [from MONDO]

MedGen UID:
442777
Concept ID:
C2751641
Finding
2.

Fanconi anemia complementation group D1

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]

MedGen UID:
325420
Concept ID:
C1838457
Disease or Syndrome
3.

Mismatch repair cancer syndrome 2

Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300). [from OMIM]

MedGen UID:
1750327
Concept ID:
C5436806
Disease or Syndrome
4.

Lymphoblastic leukemia, acute, with lymphomatous features

MedGen UID:
340879
Concept ID:
C1855472
Neoplastic Process
5.

Bone marrow failure and diabetes mellitus syndrome

Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017). [from OMIM]

MedGen UID:
1823991
Concept ID:
C5774218
Disease or Syndrome
6.

T-cell acute lymphoblastic leukemia

Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. [from HPO]

MedGen UID:
368378
Concept ID:
C1961099
Neoplastic Process
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...