Anemia, and Nephrolithiasis

Diseases related with Anemia and Nephrolithiasis

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


Top matches:

Low match MEDULLARY SPONGE KIDNEY


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

Low match HEREDITARY HEMORRHAGIC TELANGIECTASIA


Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

Low match OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS


Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

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Other less relevant matches:

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match PRIMARY HYPEROXALURIA TYPE 1


Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hepatic agt deficiency|alanine-glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|oxalo

Related symptoms:

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 1

Low 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

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Top 5 symptoms//phenotypes associated to Anemia and Nephrolithiasis

Symptoms // Phenotype % cases
Nephrocalcinosis Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Hematuria Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases
Hyperuricemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Nephrolithiasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Peripheral neuropathy Hepatomegaly Hypercalciuria Pain Fatigue Arthritis Seizures Muscular hypotonia Decreased glomerular filtration rate Bone pain Hepatitis Splenomegaly Dysphagia Vomiting Failure to thrive Decreased liver function Neoplasm Portal hypertension Thrombocytopenia Gout Nephropathy Proteinuria

Rare Symptoms - Less than 30% cases


Atrioventricular block Neoplasm of the liver Recurrent urinary tract infections Mandibular prognathia Pathologic fracture Optic atrophy Glomerulosclerosis Myopathy Clumsiness Visual impairment Global developmental delay Oral-pharyngeal dysphagia Growth delay Abnormal bleeding Dental malocclusion Chronic kidney disease Leukopenia Generalized hypotonia Dysarthria Dystonia Flexion contracture Spasticity Elevated hepatic transaminase Scoliosis Short stature Esophageal varix Rigidity Aggressive behavior Hemolytic anemia Osteomalacia Facial palsy Hepatocellular carcinoma Osteoporosis Cavernous hemangioma Stage 5 chronic kidney disease Cholelithiasis Pyelonephritis Nausea Metabolic acidosis Skeletal muscle atrophy Epistaxis Flank pain Polyneuropathy Hypertension Dyspnea Venous thrombosis Respiratory distress Fever Edema Congestive heart failure Hemoptysis Distal renal tubular acidosis Bladder stones Tubulointerstitial nephritis Joint swelling Nausea and vomiting Heart block Optic neuropathy Weight loss Atherosclerosis Cirrhosis Severe muscular hypotonia Arthropathy Hyperphosphaturia Increased body weight Involuntary movements Muscle stiffness Increased reactive oxygen species production Chondrocalcinosis Schizophrenia Global brain atrophy Personality changes Abnormality of mitochondrial metabolism Abnormality of blood and blood-forming tissues Abnormality of the hand Accelerated skeletal maturation Drooling Acute hepatic failure Hypoparathyroidism Leukoencephalopathy Hand tremor Glycosuria Renal tubular dysfunction Aminoaciduria Spontaneous abortion Back pain Weak cry Cholestasis Long fingers Jaundice Arthralgia Dementia Depressivity Cerebral atrophy Tremor Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Mask-like facies Nocturnal hypoventilation Fractures of the long bones Diaphragmatic eventration Spherocytosis Head tremor Facial diplegia Hypokinesia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Hepatosplenomegaly Difficulty walking Osteoarthritis Paresthesia External ophthalmoplegia Progressive neurologic deterioration Sleep apnea Psychosis Ascites Coma Hepatic steatosis Joint hypermobility Peripheral axonal neuropathy Hemangioma Confusion Anxiety Poor speech Infertility Pyloric stenosis Ophthalmoparesis Myotonia Neonatal respiratory distress Abnormality of the cerebral white matter Pruritus Abnormality of the liver Abnormality of the nervous system Bruising susceptibility Scarring Menstrual irregularities Night sweats Generalized lymphadenopathy Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Skin nodule Abnormality of the lymph nodes Bone cyst Immune dysregulation Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Hypothermia Increased CSF protein Uveitis Keratoconjunctivitis sicca Hyperthyroidism Skin plaque Abnormality of the adrenal glands Interstitial pulmonary abnormality Abnormality of T cell physiology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Enlargement of parotid gland Chorioretinitis Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Abnormality of the musculature Elevated erythrocyte sedimentation rate Proximal muscle weakness in lower limbs Cataract Erythema Proximal muscle weakness Photophobia Hypothyroidism Glaucoma Alopecia Arrhythmia Headache Blindness Atypical or prolonged hepatitis Papule Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Cough Lymphadenopathy Chorioretinal atrophy Ventricular tachycardia Increased antibody level in blood Blurred vision Pulmonary fibrosis Emphysema Diabetes insipidus Epiphora Inflammation of the large intestine Pleural effusion Hypercalcemia Eosinophilia Osteolysis Hypopigmentation of the skin Hyperpigmentation of the skin Anorexia Bronchiectasis Subcutaneous nodule Abnormal lung morphology Palpitations Pancytopenia Syncope Sudden cardiac death Chest pain EMG abnormality Hepatoblastoma Narrow face Osteopetrosis Behavioral abnormality Hypertonia Hyperreflexia Motor delay Delayed speech and language development Bicarbonate-wasting renal tubular acidosis Periodic paralysis Abnormality of the renal tubule Aseptic necrosis Clinodactyly Abnormality of dental morphology Rickets Hypokalemia Reduced bone mineral density Abnormality of epiphysis morphology Cerebral calcification Recurrent fractures Genu valgum Carious teeth Intellectual disability, mild Clinodactyly of the 5th finger Mucosal telangiectasiae Athetosis Hyperuricosuria Facial grimacing Testicular atrophy Focal dystonia Dyslexia Megaloblastic anemia Self-mutilation Opisthotonus Proximal placement of thumb Irritability Self-injurious behavior Cerebral palsy Finger clinodactyly Spastic gait Stereotypy Choreoathetosis Abnormality of extrapyramidal motor function Chorea Hip dislocation Retinal telangiectasia Peripheral arteriovenous fistula Podagra Elevated serum creatinine Renal cortical cysts Tubulointerstitial abnormality Tubulointerstitial fibrosis Thin bony cortex Hemihypertrophy Tubular atrophy Renal salt wasting Fair hair Nephronophthisis Multiple small medullary renal cysts Polyuria Nephritis Polydipsia Polycystic kidney dysplasia Renal hypoplasia Hypotension Renal cyst Abnormality of the kidney Cerebral cortical atrophy Renal corticomedullary cysts Tubular basement membrane disintegration Abnormality of cardiovascular system physiology Pulmonary embolism Spontaneous hematomas Cholecystitis Conjunctival telangiectasia Visceral angiomatosis Intestinal polyposis Abnormality of the cerebral vasculature Arteriovenous malformation Transient ischemic attack Subarachnoid hemorrhage Telangiectasia of the skin Global glomerulosclerosis Microcytic anemia Cerebral hemorrhage Amblyopia Pulmonary arterial hypertension Gastrointestinal hemorrhage Migraine Renal cortical atrophy Impaired renal uric acid clearance Pyuria Excessive purine production Abnormality of the skeletal system Progressive muscle weakness Doll-like facies Myopia Feeding difficulties High palate Ptosis Cryptorchidism Muscle weakness Hypocitraturia Hepatocellular adenoma Lipemia retinalis Gait disturbance Chronic pancreatitis Chronic hepatitis Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Enterocolitis Skeletal myopathy Fasting hypoglycemia Macrocephaly Talipes equinovarus Xanthomatosis Ophthalmoplegia Decreased fetal movement Hip dysplasia Waddling gait Generalized muscle weakness Inability to walk Long face Arachnodactyly Lower limb muscle weakness Limb muscle weakness Dolichocephaly Respiratory insufficiency Paralysis Apnea Kyphoscoliosis High forehead Polyhydramnios Respiratory failure Areflexia Midface retrusion Hydrocephalus Breathing dysregulation Enlarged kidney Abnormality of the dentition Raynaud phenomenon Calcium oxalate nephrolithiasis Intermittent claudication Choroidal neovascularization Chills Enuresis Calcinosis Dysuria Peripheral arterial stenosis Acrocyanosis Calcinosis cutis Gangrene Cutis marmorata Increased bone mineral density Progressive visual loss Aciduria Stroke Retinopathy Visual loss Abnormality of metabolism/homeostasis Hyperoxaluria Arterial occlusion Protuberant abdomen Lactic acidosis Renal tubular acidosis Prolonged bleeding time Decreased muscle mass Focal segmental glomerulosclerosis Elevated alkaline phosphatase Pancreatitis Hyperlipidemia Hypertriglyceridemia Full cheeks Delayed puberty Abnormality of circulating enzyme level Carcinoma Hypoglycemia Osteopenia Acidosis Recurrent respiratory infections Recurrent infections Diarrhea Cognitive impairment Retinal crystals Abnormal trabecular meshwork morphology



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