Hereditary Leiomyomatosis and Renal Cell Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
61
|
59
|
0.800 |
None |
0.972 |
107 |
55
|
1994 |
2020 |
Fumarase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
90
|
0.740 |
None |
1.000 |
57 |
90
|
1990 |
2019 |
Malignant neoplasm of kidney
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
664
|
22
|
0.600 |
strong |
0.971 |
34 |
|
2002 |
2020 |
Renal carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
665
|
21
|
0.400 |
None |
0.962 |
26 |
|
2003 |
2020 |
Kidney Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
295
|
11
|
0.400 |
None |
0.900 |
10 |
|
2003 |
2018 |
Fumaric aciduria
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.310 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
23
|
98
|
0.300 |
moderate |
1.000 |
6 |
|
2005 |
2015 |
Uterine leiomyosarcoma (less common)
|
phenotype |
Neoplasms
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
moderate |
1.000 |
1 |
|
2005 |
2005 |
Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
|
phenotype |
Neoplasms
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Cutaneous leiomyosarcoma (less common)
|
phenotype |
Neoplasms
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.300 |
strong |
|
0 |
|
|
|
Carcinoma, Neuroendocrine
|
disease |
Neoplasms
|
Neoplastic Process
|
182
|
7
|
0.300 |
strong |
|
0 |
|
|
|
Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2084
|
288
|
0.200 |
None |
0.960 |
50 |
|
2002 |
2020 |
Uterine Fibroids
|
group |
Neoplasms
|
Neoplastic Process
|
569
|
154
|
0.200 |
None |
0.921 |
38 |
3
|
2001 |
2020 |
Cutaneous leiomyoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1
|
2
|
0.180 |
None |
1.000 |
8 |
2
|
2001 |
2018 |
Adrenal Gland Pheochromocytoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
416
|
50
|
0.160 |
None |
1.000 |
6 |
|
2003 |
2019 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
88
|
6387
|
0.150 |
None |
1.000 |
75 |
63
|
1997 |
2019 |
Papillary renal cell carcinoma type 2
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
6
|
|
0.140 |
None |
1.000 |
4 |
|
2011 |
2018 |
Pheochromocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
344
|
186
|
0.130 |
None |
1.000 |
3 |
1
|
2010 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.120 |
None |
1.000 |
2 |
1
|
2016 |
2018 |
Leiomyosarcoma of uterus
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
71
|
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2006 |
Polycythemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
82
|
22
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
52 |
|
1994 |
2020 |