Lymphoma, and Polycystic kidney dysplasia

Diseases related with Lymphoma and Polycystic kidney dysplasia

In the following list you will find some of the most common rare diseases related to Lymphoma and Polycystic kidney dysplasia that can help you solving undiagnosed cases.

Top matches:

Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.

PEUTZ-JEGHERS SYNDROME; PJS Is also known as polyps-and-spots syndrome|polyposis, hamartomatous intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS Is also known as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|chromosome 16p13.3 deletion syndrome, distal

Related symptoms:

  • Abnormality of the kidney
  • Renal cyst
  • Multicystic kidney dysplasia
  • Polycystic kidney dysplasia
  • Renal angiomyolipoma


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS

Other less relevant matches:

Low match CAROLI DISEASE

Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). Genetic Heterogeneity of Intracranial Berry AneurysmIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.Other mapped loci for intracranial berry aneurysm include ANIB2 (OMIM ) on chromosome 19q13, ANIB3 (OMIM ) on 1p36.13-p34.3, ANIB4 (OMIM ) on 5p15.2-14.3, ANIB5 (OMIM ) on Xp22, ANIB6 (OMIM ) on 9p21, ANIB7 (OMIM ) on 11q24-q25, ANIB8 (OMIM ) on 14q23, ANIB9 (OMIM ) on 2q, ANIB10 (OMIM ) on 8q, and ANIB11 (OMIM ) on 8p22.

FAMILIAL CEREBRAL SACCULAR ANEURYSM Is also known as aneurysmal subarachnoid hemorrhage, familial|familial intracranial saccular aneurysm|familial berry aneurysm

Related symptoms:

  • Seizures
  • Hypertension
  • Dilatation
  • Abnormality of the kidney
  • Coarctation of aorta


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL CEREBRAL SACCULAR ANEURYSM

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld|autosomal dominant polycystic liver disease|adpcld

Related symptoms:

  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED POLYCYSTIC LIVER DISEASE

Related symptoms:

  • Polydactyly
  • Oligohydramnios
  • Encephalocele
  • Polycystic kidney dysplasia
  • Occipital encephalocele


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 11; MKS11

Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (OMIM ) as part of the clinical phenotype of renal cysts and diabetes syndrome (OMIM ).

Related symptoms:

  • Renal insufficiency
  • Dilatation
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


SOURCES: MESH OMIM MENDELIAN

More info about GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Hepatic fibrosis
  • Polycystic kidney dysplasia


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 5; PKD5

Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.

XANTHINURIA TYPE II Is also known as xanthine dehydrogenase and aldehyde oxidase, combined deficiency of|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xdh and aox dual deficiency

Related symptoms:

  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Recurrent urinary tract infections
  • Nephrolithiasis
  • Polycystic kidney dysplasia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about XANTHINURIA TYPE II

Top 5 symptoms//phenotypes associated to Lymphoma and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Abnormality of the kidney Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Lymphoma and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Stage 5 chronic kidney disease

Rare Symptoms - Less than 30% cases

Neoplasm Hepatomegaly Clear cell renal cell carcinoma Renal cell carcinoma Renal insufficiency Abdominal distention Ascites Carcinoma Portal hypertension Encephalomalacia Abnormality of brainstem morphology Oculomotor nerve palsy Vomiting Aortic dissection Transient ischemic attack Pruritus Dilatation of the cerebral artery Subarachnoid hemorrhage Aortic root aneurysm Visual field defect Atherosclerosis Intracranial hemorrhage Episodic fever Hemiparesis Coarctation of aorta Seizures Cholangiocarcinoma Abnormal circle of Willis morphology Liver abscess Cholestasis Epigastric pain Cholangitis Esophageal varix Cerebral berry aneurysm Gastrointestinal hemorrhage Respiratory insufficiency Oligohydramnios Hypouricemia Myositis Acute kidney injury Nephrolithiasis Recurrent urinary tract infections Hyperechogenic kidneys Hepatic fibrosis Multiple glomerular cysts Abnormality of the renal tubule Hyperuricemia Proteinuria Occipital encephalocele Encephalocele Polydactyly Gastroesophageal reflux Polycystic liver disease Increased total bilirubin Hepatic cysts Abnormality of the pancreas Abnormality of the respiratory system Multiple renal cysts Cerebral hemorrhage Elevated alkaline phosphatase Back pain Abnormality of the cardiovascular system Abnormality of the liver Feeding difficulties in infancy Abnormality of the nervous system Fever Cerebellar hemangioblastoma Pain Hypermelanotic macule Pancreatic cysts Intestinal polyposis Ovarian cyst Multiple myeloma Clubbing of fingers Neoplasm of the pancreas Abnormality of the mouth Vitiligo Abnormality of the ureter Iron deficiency anemia Ovarian neoplasm Hamartoma Macule Intestinal obstruction Rectal prolapse Clubbing Melanocytic nevus Psoriasiform dermatitis Growth abnormality Breast carcinoma Hemangioma Accelerated skeletal maturation Gynecomastia Nevus Hyperhidrosis Headache Diarrhea Edema Biliary tract abnormality Nasal polyposis Cortical tubers Falls Renal angiomyolipoma Multicystic kidney dysplasia Hemangioblastoma Small cell lung carcinoma Burkitt lymphoma Fibrosarcoma Papillary renal cell carcinoma Retinoblastoma Renal neoplasm Polycythemia Nephroblastoma Melanoma Obesity Neoplasm of the breast Precocious puberty with Sertoli cell tumor Endolymphatic sac tumor Congenital shortened small intestine Thyroid nodule Uterine neoplasm Gastrointestinal carcinoma Intussusception Intestinal polyp Testicular neoplasm Bloody diarrhea Thrombophlebitis Hematemesis Intestinal bleeding Hamartomatous polyposis Xanthinuria


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