Melanoma, and Hematuria

Diseases related with Melanoma and Hematuria

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


Top matches:

Medium match LYMPHANGIOLEIOMYOMATOSIS


Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Low match MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME


MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Low match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

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Other less relevant matches:

Low 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

Low match CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY


Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY Is also known as antiplasmin deficiency|plasmin inhibitor deficiency

Related symptoms:

  • Pain
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Bone pain


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY

Low match NEPHROBLASTOMA


Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

NEPHROBLASTOMA Is also known as wilms tumor|nephroblastoma|renal embryonic tumor

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROBLASTOMA

Low match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Low match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Top 5 symptoms//phenotypes associated to Melanoma and Hematuria

Symptoms // Phenotype % cases
Pain Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Nephroblastoma Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Renal neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Melanoma and Hematuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Abdominal pain Carcinoma Proteinuria Lymphadenopathy Fever

Rare Symptoms - Less than 30% cases


Renal cell carcinoma Anemia Abnormality of the kidney Stage 5 chronic kidney disease Nephritis Weight loss Intellectual disability Sarcoma Neoplasm of the liver Hydrocephalus Back pain Hypoglycemia Hemihypertrophy Male pseudohermaphroditism Cutaneous leiomyosarcoma Neoplasm of the lung Hepatomegaly Aniridia Papillary renal cell carcinoma type 2 Delayed puberty Lactic acidosis Metabolic acidosis Gonadal dysgenesis Pulmonary arterial hypertension Hyperlipidemia Focal segmental glomerulosclerosis Hepatocellular carcinoma Decreased fumarate hydratase activity Multiple cutaneous leiomyomas Breast carcinoma Pruritus Neoplasm of the skin Basal cell carcinoma Abnormality of the musculature Low back pain Leiomyosarcoma Bladder neoplasm Gastrointestinal stroma tumor Gout Cataract Uterine leiomyoma Papule Barrett esophagus Vaginal neoplasm Leukemia Uterine leiomyosarcoma Cutaneous leiomyoma Skin rash Papillary renal cell carcinoma Seizures Xanthomatosis Nausea and vomiting Microscopic hematuria Abnormal aortic valve morphology Elliptocytosis Craniopharyngioma Erythrocyte cylindruria Respiratory insufficiency Headache Thrombocytopenia Irritability Subcutaneous nodule Glomerulopathy Cranial nerve paralysis Cerebral palsy Hemiplegia Hypercalcemia Ovarian neoplasm Poor appetite Oculomotor nerve palsy Teratoma Neoplasm of the central nervous system Embryonal neoplasm Increased number of teeth Abnormality of the hair Xanthelasma Depressed nasal bridge Decreased glomerular filtration rate Hepatoblastoma Chronic pancreatitis Spider hemangioma Hearing impairment Strabismus Sensorineural hearing impairment Abnormal facial shape Muscular hypotonia Myopia Abnormality of the metaphysis Macrocephaly Downslanted palpebral fissures Anteverted nares Intellectual disability, severe Malar flattening Midface retrusion Patent ductus arteriosus Thin vermilion border Thick vermilion border Tapered finger Ketonemia Gingival bleeding Overgrowth Retinal hamartoma Pneumothorax Bronchiolitis Chylothorax Abnormality of the lymphatic system Abnormal urinary color Shagreen patch Bronchiolitis obliterans Renal angiomyolipoma Ungual fibroma Atelectasis Cystic lung disease Pulmonary lymphangiomyomatosis Chylopericardium Cutaneous melanoma Polyhydramnios Hydronephrosis Nephropathy Vesicoureteral reflux Renal agenesis Abnormality of female internal genitalia Multiple renal cysts Oligohydramnios Abnormality of skin pigmentation Cognitive impairment Optic atrophy Fatigue Respiratory distress Recurrent respiratory infections Respiratory failure Dyspnea Cough Ascites Pulmonary infiltrates Chest pain Gastrointestinal hemorrhage Myocardial infarction Abnormal lung morphology Lymphedema Emphysema Restrictive ventilatory defect Macule Hemoptysis Abnormality of the cardiovascular system Nephrotic syndrome Reduced euglobulin clot lysis time Abnormal bleeding Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Normocytic anemia Increased blood urea nitrogen Mild proteinuria Chronic tubulointerstitial nephritis Bruising susceptibility Bone pain Nephronophthisis Intracranial hemorrhage Neuroblastoma Ecchymosis Histiocytosis Joint hemorrhage Persistent bleeding after trauma Intramuscular hematoma Abnormal umbilical stump bleeding Hemothorax Glycosuria Chronic kidney disease Renal hypoplasia Renal duplication Renal dysplasia Recurrent urinary tract infections Multicystic kidney dysplasia Abnormality of the urinary system Cerebral hemorrhage Hydroureter Cystic renal dysplasia Ureteropelvic junction obstruction Ureterocele Cholestasis Flank pain Bilateral renal dysplasia Congenital megaureter Renal sarcoma Recurrent infections Pneumonia Elevated hepatic transaminase Respiratory tract infection Abnormality of the liver Internal hemorrhage



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