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1.

Severe congenital neutropenia

Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence.Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
[from GHR]

MedGen UID:
343974
Concept ID:
C1853118
Disease or Syndrome
2.

Neutropenia

An abnormal decrease in the number of neutrophils, a type of white blood cell. [from NCI]

MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome; Finding
3.

Congenital neutropenia

A form of neutropenia with congenital onset. [from HPO]

MedGen UID:
505829
Concept ID:
CN004915
Finding
4.

Severe congenital neutropenia autosomal dominant

ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia AML is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia. [from GeneReviews]

MedGen UID:
348506
Concept ID:
C1859966
Disease or Syndrome
5.

Neutropenia

An abnormally low number of neutrophils in the peripheral blood. [from HPO]

MedGen UID:
163121
Concept ID:
C0853697
Finding
6.

congenital neutropenia

An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections caused by bacteria, and are at an increased risk of acute myelogenous leukemia (AML) or myelodysplasia (a bone marrow disorder). [from NCI]

MedGen UID:
83317
Concept ID:
C0340970
Congenital Abnormality
7.

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
8.

Hydronephrosis

Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. [from MeSH]

MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
9.

Acute myeloid leukemia

CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadic CEBPA-associated AML is defined as AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. Too few individuals with CEBPA-associated familial AML have been reported to be certain about the natural history of the disease. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age 1.8 years and older than age 45 years. The prognosis of CEBPA-associated familial AML appears to be favorable compared with sporadic CEBPA-associated AML. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes in addition to the risk of relapse due to preexisting clones. [from GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
10.

Myeloid leukemia

A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. [from HPO]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
11.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
12.

Growth hormone deficiency

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. [from HPO]

MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
13.

Acute myeloid leukemia

A form of leukemia characterized by overproduction of an early myeloid cell. [from HPO]

MedGen UID:
505691
Concept ID:
CN004254
Finding
14.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
15.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. [from HPO]

MedGen UID:
505002
Concept ID:
CN001727
Finding
16.

Hydronephrosis

Severe distention of the kidney with dilation of the renal pelvis and calices. [from HPO]

MedGen UID:
504353
Concept ID:
CN000122
Finding
17.

Idiopathic growth hormone deficiency

MedGen UID:
450529
Concept ID:
C0342381
Disease or Syndrome
18.

Severe congenital neutropenia 4, autosomal recessive

Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence.Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
[from GHR]

MedGen UID:
436454
Concept ID:
C2675526
Disease or Syndrome
19.

Growth hormone deficiency

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. [from HPO]

MedGen UID:
428231
Concept ID:
CN000771
Finding
20.

Myelodysplasia

MedGen UID:
368407
Concept ID:
C1963099
Finding
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