Carcinoma, and Renal insufficiency

Diseases related with Carcinoma and Renal insufficiency

In the following list you will find some of the most common rare diseases related to Carcinoma and Renal insufficiency that can help you solving undiagnosed cases.


Top matches:

High match LIPOPROTEIN GLOMERULOPATHY


Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE ). The disorder had rarely been described in Caucasians.

LIPOPROTEIN GLOMERULOPATHY Is also known as lpg

Related symptoms:

  • Edema
  • Renal insufficiency
  • Carcinoma
  • Proteinuria
  • Abnormality of the kidney


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIPOPROTEIN GLOMERULOPATHY

High match KARYOMEGALIC INTERSTITIAL NEPHRITIS


Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.

KARYOMEGALIC INTERSTITIAL NEPHRITIS Is also known as kin|systemic karyomegaly

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KARYOMEGALIC INTERSTITIAL NEPHRITIS

High match HYPERPARATHYROIDISM 1; HRPT1


Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

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Other less relevant matches:

High match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

High match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

High match HYPERPARATHYROIDISM-JAW TUMOR SYNDROME


Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (OMIM ).

HYPERPARATHYROIDISM-JAW TUMOR SYNDROME Is also known as hyperparathyroidism-jaw tumor syndrome, hereditary|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hpt-jt

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

High match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

High match PARATHYROID CARCINOMA


Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.

PARATHYROID CARCINOMA Is also known as prtc

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARATHYROID CARCINOMA

High match TYROSINEMIA TYPE 1


Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

High match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Top 5 symptoms//phenotypes associated to Carcinoma and Renal insufficiency

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Hepatocellular carcinoma Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Renal insufficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Nausea and vomiting Hypercalciuria Constipation Diarrhea Vomiting Nephrolithiasis Hypertension Anemia Pancreatitis Nausea Proteinuria Parathyroid carcinoma Paralysis Nephropathy Primary hyperparathyroidism Osteoporosis Hepatomegaly Hyperparathyroidism Elevated hepatic transaminase Hepatosplenomegaly Hypercalcemia Elevated circulating parathyroid hormone level Hypophosphatemia Chronic kidney disease Neoplasm of the liver Seizures Peptic ulcer

Rare Symptoms - Less than 30% cases


Cutaneous photosensitivity Psychosis Weight loss Tachycardia Anxiety Arthralgia Abdominal pain Depressivity Intellectual disability Hypoglycemia Hepatic failure Abnormal bleeding Glomerulosclerosis Abnormality of the parathyroid morphology Anorexia Edema Hallucinations Episodic abdominal pain Short stature Mandibular pain Growth delay Uterine leiomyoma Infantile hypercalcemia Shortened QT interval Peripheral neuropathy Pancreatic adenocarcinoma Testicular neoplasm Fibroma Thyroid carcinoma Chondrocalcinosis Lipoma Hyperlipidemia Nephroblastoma Polydipsia Bone pain Renal cyst Headache Dysphagia Fatigue Elevated urinary delta-aminolevulinic acid Paralytic ileus Ileus Insomnia Agitation Enlarged kidney Renal hamartoma Osteopenia Abnormality of the liver Parathyroid hyperplasia Polycystic kidney dysplasia Splenomegaly Neoplasm of the endocrine system Hematuria Stage 5 chronic kidney disease Hepatitis Recurrent infections Renal cell carcinoma Parathyroid adenoma Milia Hypertrichosis Prolonged bleeding time Gout Confusion Hypopigmentation of the skin Tetraplegia Abnormal blistering of the skin Aspiration Thin skin Hypopigmented skin patches Protuberant abdomen Restlessness Xanthomatosis Hyperuricemia Fragile skin Renal tubular acidosis Renal Fanconi syndrome Scarring Hepatoblastoma Ossifying fibroma of the jaw Hepatocellular adenoma Doll-like facies Lipemia retinalis Nystagmus Distal renal tubular acidosis Chronic pancreatitis Fever Chronic hepatitis Decreased glomerular filtration rate Clinodactyly Intermittent diarrhea Abnormality of the skeletal system Xanthelasma Microalbuminuria Hypoglycemic seizures Pyelonephritis Enterocolitis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Decreased muscle mass Focal segmental glomerulosclerosis Visual hallucinations Hepatic necrosis Irritability Cirrhosis Muscular hypotonia Ascites Episodic peripheral neuropathy Gastrointestinal hemorrhage Aciduria Peripheral demyelination Rickets of the lower limbs Rickets Axonal degeneration Cognitive impairment Hypermethioninemia Self-mutilation Renal tubular dysfunction Acute hepatic failure Hypophosphatemic rickets Periodic paralysis Generalized aminoaciduria Abnormality of the abdominal wall Elevated alpha-fetoprotein Pancreatic islet-cell hyperplasia Hypertrophic cardiomyopathy Jaundice Hypertyrosinemia Full cheeks Motor polyneuropathy Portal hypertension Elevated alkaline phosphatase Dark urine Venous thrombosis Premature adrenarche Atherosclerosis Hypertriglyceridemia Porphyrinuria Epistaxis Hoarse voice Dilatation Metabolic acidosis Polyuria Lactic acidosis Failure to thrive Cardiomyopathy Delayed puberty Arthritis Acidosis Hypertonia Recurrent respiratory infections Myopathy Abnormality of coagulation Dysuria Hurthle cell thyroid adenoma Purpura Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Thrombocytopenia Autoimmunity Leukemia Lymphadenopathy Hemolytic anemia Lymphoma Vasculitis Eosinophilia Mitral valve calcification Urticaria Glomerulonephritis Increased antibody level in blood Petechiae Basal cell carcinoma Autoimmune hemolytic anemia Iron deficiency anemia Hodgkin lymphoma Autoimmune thrombocytopenia Uveitis Abnormality of the parathyroid gland Aortic valve calcification Multiple myeloma Elevated serum creatinine Glomerulopathy Hyperlipoproteinemia Mesangial hypercellularity Pneumonia Respiratory tract infection Cholestasis Nephritis Nephronophthisis Glycosuria Tubulointerstitial nephritis Tubular atrophy Retinoblastoma Normocytic anemia Increased blood urea nitrogen Mild proteinuria Chronic tubulointerstitial nephritis Recurrent fractures Ventricular hypertrophy Left ventricular hypertrophy Breast carcinoma Hyperphosphaturia Generalized osteoporosis Carcinoid tumor Antinuclear antibody positivity Generalized edema Ossifying fibroma Abnormal urinary color Paresthesia Coma Abdominal distention Urinary incontinence Paraparesis Cranial nerve paralysis Hyponatremia Apathy Urinary retention Diaphragmatic paralysis Delirium Myalgia Psychotic episodes Hypertensive crisis Respiratory paralysis Red urine Acute episodes of neuropathic symptoms Hamartoma Abnormality of the head Thyroid adenoma Papillary renal cell carcinoma Recurrent pancreatitis Renal cortical adenoma Lethargy Hyperhidrosis Chronic lymphatic leukemia Cervical lymphadenopathy Extramedullary hematopoiesis Lymphocytosis Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Follicular hyperplasia Increased IgM level Autoimmune neutropenia Reduced delayed hypersensitivity Increased IgG level Rheumatoid factor positive Arrhythmia Coombs-positive hemolytic anemia Platelet antibody positive Decreased lymphocyte apoptosis Antineutrophil antibody positivity Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Intermediate uveitis Global developmental delay Behavioral abnormality Intellectual disability, mild Hypocitraturia



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