Fever, and Renal cell carcinoma

Diseases related with Fever and Renal cell carcinoma

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

Top matches:

Medium match ABETALIPOPROTEINEMIA

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Medium match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Other less relevant matches:

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

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

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

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

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

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Top 5 symptoms//phenotypes associated to Fever and Renal cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Nephroblastoma Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Renal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Weight loss Anemia Irritability Intellectual disability Abdominal pain Renal neoplasm Carcinoma Hematuria

Rare Symptoms - Less than 30% cases

Renal insufficiency Long philtrum Stage 5 chronic kidney disease Facial palsy Hydrocephalus Nephropathy Dry skin Respiratory insufficiency Seizures Dyspnea Arthralgia Scoliosis Fatigue Aniridia Thrombocytopenia Gonadal dysgenesis Male pseudohermaphroditism Abnormality of the liver Lethargy Neoplasm of the liver Peripheral neuropathy Hernia Subcutaneous nodule Cranial nerve paralysis Cerebral palsy Sarcoma Hemiplegia Hypercalcemia Ovarian neoplasm Oculomotor nerve palsy Poor appetite Proteinuria Teratoma Abnormality of the kidney Nausea and vomiting Micropenis Neoplasm of the central nervous system Internal hemorrhage Embryonal neoplasm Congenital diaphragmatic hernia Gonadal tissue inappropriate for external genitalia or chromosomal sex Headache Gonadoblastoma Primary amenorrhea Ambiguous genitalia Amenorrhea Abnormality of the genital system Glomerulosclerosis Abdominal distention Glomerulonephritis Focal segmental glomerulosclerosis Glomerulopathy Cognitive impairment Nephrotic syndrome Pallor Ambiguous genitalia, male Diffuse mesangial sclerosis Ambiguous genitalia, female Uterus didelphys Low-grade fever Streak ovary Anuria True hermaphroditism Ovarian gonadoblastoma Abnormal renal physiology Cough Optic atrophy Syncope Vomiting Short nose Abnormality of metabolism/homeostasis Constipation Osteoporosis Diabetes mellitus Osteopenia Autoimmunity Confusion Vertigo Wide nose Coma Gliosis Growth hormone deficiency Growth delay Hypotension Dehydration Polydipsia Polyuria Diabetes insipidus Orthostatic hypotension Enuresis Histiocytosis Central diabetes insipidus Pollakisuria Nocturia Hypertonic dehydration Abnormality of the anterior pituitary Hypertelorism Chylopericardium Respiratory distress Hemoptysis Recurrent respiratory infections Respiratory failure Abnormality of skin pigmentation Ascites Chest pain Gastrointestinal hemorrhage Myocardial infarction Abnormal lung morphology Lymphedema Melanoma Emphysema Restrictive ventilatory defect Macule Pulmonary infiltrates Pulmonary lymphangiomyomatosis Multiple renal cysts Atelectasis Abnormality of female internal genitalia Pneumothorax Bronchiolitis Chylothorax Abnormality of the lymphatic system Abnormal urinary color Shagreen patch Bronchiolitis obliterans Renal angiomyolipoma Retinal hamartoma Ungual fibroma Cystic lung disease Recurrent infections Global developmental delay Edema Abnormality of the foot Anteverted nares Syndactyly Clinodactyly Hyperhidrosis Kyphoscoliosis Apnea Camptodactyly Feeding difficulties in infancy Hyperlordosis Protruding ear Carious teeth Full cheeks Feeding difficulties Round face Lumbar hyperlordosis Sensorimotor neuropathy Elbow flexion contracture Abnormal autonomic nervous system physiology Poor suck Scaling skin Cubitus valgus Radial deviation of finger 2-3 toe syndactyly Opisthotonus Limited elbow extension Depressed nasal bridge High palate Trismus Chronic diarrhea Muscular hypotonia Visual impairment Gait disturbance Diarrhea Rod-cone dystrophy Malabsorption Abnormality of movement Retinal degeneration Hepatic failure Hepatic steatosis Peripheral demyelination Abnormality of retinal pigmentation Flexion contracture Reduced tendon reflexes Abnormality of the coagulation cascade Acanthocytosis Fat malabsorption Hypocholesterolemia Decreased LDL cholesterol concentration Abetalipoproteinemia Increased HDL cholesterol concentration Steatocystoma multiplex Micrognathia Muscle weakness Low-set ears Thoracolumbar scoliosis Excessive salivation Cleft palate Osteoarthritis Abnormal choroid morphology Polyarticular arthritis Clear cell renal cell carcinoma Large vessel vasculitis Retrobulbar optic neuritis Abnormal inflammatory response Inguinal hernia Umbilical hernia Joint hypermobility Bruising susceptibility Lymphoma Hyperextensible skin Iridocyclitis Atrophic scars Fragile skin Gingival bleeding Premature loss of teeth Periodontitis Gingival recession Ataxia Overgrowth Neoplasm of the lung Hemihypertrophy Hearing impairment Nystagmus Abnormal salivary gland morphology Posterior uveitis Unexplained fevers Ichthyosis Cold-induced sweating Cataract Splenomegaly Visual loss Glaucoma Photophobia Erythema Retinopathy Camptodactyly of finger Skin rash Papule Limitation of joint mobility Erythema nodosum Pulmonary arterial hypertension Hyperpigmentation of the skin Skin ulcer Aortic aneurysm Keratitis Pericarditis Joint swelling Xerostomia Abnormal cranial nerve morphology Abnormality of the optic nerve Abnormality of the retinal vasculature Synovitis Germinoma


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