Failure to thrive, and Hematuria

Diseases related with Failure to thrive and Hematuria

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

Top matches:

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 Is also known as glomerulosclerosis, focal segmental, 3, susceptibility to

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Proteinuria


SOURCES: OMIM MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

Other less relevant matches:

High match MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

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

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Top 5 symptoms//phenotypes associated to Failure to thrive and Hematuria

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Microscopic hematuria Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Hematuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Hepatomegaly Anemia Dysphagia Hearing impairment Sensorineural hearing impairment Retinopathy Fever Chronic kidney disease Nephrolithiasis Malabsorption Bone pain Abnormality of the skeletal system Increased bone mineral density Vomiting

Rare Symptoms - Less than 30% cases

Nephrocalcinosis Increased susceptibility to fractures Polydipsia Rickets Exocrine pancreatic insufficiency Polyuria Enuresis Delayed skeletal maturation Pulmonary infiltrates Cognitive impairment Oral-pharyngeal dysphagia Acidosis Muscle weakness Strabismus Hypertelorism Seizures Ventricular septal defect Atrial septal defect Patent ductus arteriosus Recurrent respiratory infections Abnormality of the liver Male infertility Renal tubular acidosis Aciduria Delayed puberty Cataract Myopia Visual loss Recurrent urinary tract infections Pathologic fracture Thickening of the glomerular basement membrane Diffuse glomerular basement membrane lamellation Anterior lenticonus Pain Cough Dyspnea Fatigue Nephrotic syndrome Stroke Edema Pigmentary retinopathy Pneumonia Spasticity Hepatosplenomegaly Feeding difficulties Abnormality of the eye Generalized myoclonic seizures Mental deterioration Gait disturbance Ophthalmoplegia Neurological speech impairment Respiratory distress Thrombocytopenia Bruising susceptibility Encephalopathy Osteoporosis Dementia Ataxia Jaundice Generalized hypotonia Cholestasis Scarring Abnormal cardiac septum morphology Broad forehead Pruritus Pulmonic stenosis Cirrhosis Hepatic failure Renal cyst Triangular face Cyanosis Tetralogy of Fallot Coarctation of aorta Renal hypoplasia Renal dysplasia Axenfeld anomaly Increased body weight Pointed chin Heart murmur Pancytopenia Long nose Posterior embryotoxon Mandibular prognathia Pulmonary artery stenosis Wolff-Parkinson-White syndrome Cholestatic liver disease Peripheral pulmonary artery stenosis Butterfly vertebrae Dark urine Poor coordination Aseptic necrosis Epistaxis Hypopigmentation of hair Confusion Abnormality of skin pigmentation Hypopigmentation of the skin Generalized muscle weakness Memory impairment Cerebral calcification Dehydration Progressive neurologic deterioration Hypohidrosis Failure to thrive in infancy Metaphyseal widening Hyponatremia Glycosuria Flushing Photophobia Preeclampsia Heat intolerance Male hypogonadism Decreased plasma carnitine Recurrent corneal erosions Hypophosphatemic rickets Primary hypothyroidism Generalized aminoaciduria Renal Fanconi syndrome Corneal crystals Retinal pigment epithelial mottling Rachitic rosary Episodic metabolic acidosis Oral motor hypotonia Genu valgum Hypothyroidism Pulmonary arterial hypertension Chronic fatigue Abnormal lung morphology Hyperpigmentation of the skin Hydrops fetalis Aspiration Osteolysis Shock Hyperkinesis Stridor Increased antibody level in blood Interstitial pulmonary abnormality Pericardial effusion Macular atrophy Aspiration pneumonia Vertebral compression fractures Multiple myeloma Diabetes mellitus Abnormal myocardium morphology Hypersplenism Vertical supranuclear gaze palsy Aortic valve calcification Mitral valve calcification Erlenmeyer flask deformity of the femurs Short stature Growth delay Skeletal muscle atrophy Frontal bossing Blindness Myopathy Cerebral atrophy Hypogonadism Abnormal heart morphology Gingival overgrowth Impaired urinary acidification Hip dysplasia Synovitis Congenital hypoplastic anemia Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Intellectual disability Global developmental delay Wide nasal bridge Downslanted palpebral fissures Immunodeficiency Low-set, posteriorly rotated ears Neutropenia Meningitis Pustule Aminoaciduria Abnormality of the ureter Abnormal toenail morphology Anisocytosis Megaloblastic anemia Poikilocytosis Impaired T cell function Oroticaciduria Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Peripheral neuropathy Hypochromic microcytic anemia Glomerulopathy Abnormality of the dentition Macroscopic hematuria Glomerulosclerosis Focal segmental glomerulosclerosis Abnormality of the kidney Bilateral sensorineural hearing impairment Nephritis Corneal erosion Constipation Congenital cataract Nephropathy Asthma Skeletal muscle hypertrophy Wheezing Lenticonus Leukocytosis High-frequency sensorineural hearing impairment Diffuse leiomyomatosis Tracheobronchial leiomyomatosis Flexion contracture Headache Weight loss Arthralgia Myalgia Papule Inflammatory abnormality of the skin Cachexia Metaphyseal irregularity Acne Optic atrophy Abnormality of metabolism/homeostasis Hypocitraturia Ankylosis Arthritis Feeding difficulties in infancy Hypermetropia Infertility Astigmatism Paresthesia Hypocalcemia Hypercalciuria Hyperuricemia Acute kidney injury Abnormality of lipid metabolism Amelogenesis imperfecta Hypoparathyroidism Arrhythmia Hypomagnesemia Oligospermia Chondrocalcinosis Tetany Persistence of primary teeth Enuresis nocturna Chorioretinitis Hyposthenuria Renal potassium wasting Renal magnesium wasting Hypermagnesiuria Medullary nephrocalcinosis Renal calcium wasting Abdominal pain Nystagmus Nausea and vomiting Peripheral arterial stenosis Nausea Metabolic acidosis Polyneuropathy Progressive visual loss Atherosclerosis Atrioventricular block Cutis marmorata Optic neuropathy Heart block Gangrene Acrocyanosis Raynaud phenomenon Dysuria Retinal crystals Calcinosis Pyelonephritis Chills Choroidal neovascularization Decreased glomerular filtration rate Intermittent claudication Flank pain Calcium oxalate nephrolithiasis Hyperoxaluria Calcinosis cutis Arterial occlusion Abnormality of circulating enzyme level Bladder stones Elevated intracellular cystine


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