Failure to thrive, and Proteinuria

Diseases related with Failure to thrive and Proteinuria

In the following list you will find some of the most common rare diseases related to Failure to thrive and Proteinuria 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

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

CONGENITAL INTRINSIC FACTOR DEFICIENCY Is also known as intrinsic factor deficiency|ifd|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|pernicious anemia, congenital, due to defect of intrinsic factor

Related symptoms:

  • Intellectual disability
  • Failure to thrive
  • Anemia
  • Fatigue
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRINSIC FACTOR DEFICIENCY

Other less relevant matches:

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

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME Is also known as hupra syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME

Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about NEPHROPATHIC INFANTILE CYSTINOSIS

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Medium match DDOST-CDG

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

DDOST-CDG Is also known as carbohydrate deficient glycoprotein syndrome type ir|congenital disorder of glycosylation type ir|cdg-ir|congenital disorder of glycosylation type 1r|cdg syndrome type ir|cdg1r

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about DDOST-CDG

Medium match EAST SYNDROME

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EAST SYNDROME

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

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Sensorineural hearing impairment Leukopenia Global developmental delay Intellectual disability Constipation Hearing impairment Nephrotic syndrome Hematuria Microscopic hematuria

Rare Symptoms - Less than 30% cases

Growth delay Gastroesophageal reflux Respiratory tract infection CNS hypomyelination Tremor Abnormality of the renal tubule Short stature Seizures Ataxia Hypokalemia Glycosuria Thrombocytopenia Polyuria Hypomagnesemia Renal salt wasting Polydipsia Metabolic alkalosis Acidosis Alkalosis Recurrent infections Megaloblastic anemia Focal segmental glomerulosclerosis Anterior lenticonus Diffuse glomerular basement membrane lamellation Thickening of the glomerular basement membrane Confusion Abnormality of the kidney Cataract Pancytopenia Glomerulosclerosis Macrocytic anemia Chronic kidney disease Methylmalonic aciduria Hypokalemic metabolic alkalosis IgG deficiency Muscle weakness Abnormality of the mouth Agammaglobulinemia IgM deficiency Stomatitis Intellectual disability, severe Abnormality of chromosome stability Reticulocytopenia Abnormality of vitamin D metabolism Hypocalciuria Chronic axonal neuropathy Renal potassium wasting Abnormality of the nervous system Diarrhea Acute kidney injury Peripheral hypomyelination IgA deficiency Congenital neutropenia Lymphopenia Salt craving Aciduria Decreased antibody level in blood Abnormal bleeding Neutropenia Lethargy Immunodeficiency Irritability Granulocytopenia Vitamin B12 deficiency Megaloblastic bone marrow Motor delay Recurrent ear infections Primary hypothyroidism Type I transferrin isoform profile Oromotor apraxia Nephrotic range proteinuria Muscular hypotonia Delayed speech and language development Peripheral neuropathy Loss of consciousness Cerebellar atrophy Generalized-onset seizure Gait ataxia Intellectual disability, moderate Generalized tonic-clonic seizures Peripheral axonal neuropathy Metabolic acidosis Neurodevelopmental delay Abnormality of the coagulation cascade Postural instability Elevated hepatic transaminase Agranulocytosis Increased circulating renin level Abnormality of the mitochondrion Strabismus Enuresis Hyperaldosteronism Osteopenia Neurological speech impairment Abnormality of thyroid physiology Dry skin Hepatic steatosis Esotropia Decreased liver function Accelerated skeletal maturation Dysdiadochokinesis Intention tremor Lipodystrophy Abnormality of ion homeostasis Type 2 muscle fiber atrophy Low-molecular-weight proteinuria Macroscopic hematuria Cough Congenital cataract Nephropathy Asthma Skeletal muscle hypertrophy Wheezing Lenticonus Dysphagia High-frequency sensorineural hearing impairment Diffuse leiomyomatosis Tracheobronchial leiomyomatosis Edema Hypothyroidism Scarring Small for gestational age Dyspnea Megaloblastic erythroid hyperplasia Hyperlipidemia Depressivity Myopia Visual loss Bilateral sensorineural hearing impairment Nephritis Corneal erosion Fatigue Abnormality of metabolism/homeostasis Jaundice Absence of intrinsic factor Malabsorption Paresthesia Sensory impairment Abnormality of the immune system Increased mean corpuscular volume Abnormality of the stomach Malabsorption of Vitamin B12 Abdominal distention Hypercholesterolemia Hyperchloremic metabolic acidosis Aminoaciduria Hyperechogenic kidneys Hypochloremic metabolic alkalosis Cognitive impairment Photophobia Abnormality of the cerebral white matter Pigmentary retinopathy Dehydration Rickets Hyponatremia Hypophosphatemia Renal tubular dysfunction Hyperphosphaturia Abnormal cornea morphology Corneal crystals Renal Fanconi syndrome Tubulointerstitial abnormality Hyperuricemia Ventricular hypertrophy Hypoalbuminemia Congenital nephrotic syndrome Pyloric stenosis Neonatal respiratory distress Tubular atrophy Hypoproteinemia Diffuse mesangial sclerosis Delayed eruption of permanent teeth Steroid-resistant nephrotic syndrome Mesangial hypercellularity Pulmonary arterial hypertension Elevated amniotic fluid alpha-fetoprotein Podocyte foot process effacement Heavy proteinuria Feeding difficulties Diabetes mellitus Respiratory failure Premature birth Renal sodium wasting


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