Failure to thrive, and Nephropathy

Diseases related with Failure to thrive and Nephropathy

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

Top matches:

Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see {607364}), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Congenital DiarrheaOther forms of congenital diarrhea include microvillus inclusion disease (DIAR2 ), caused by mutation in the MYO5B gene (OMIM ) on chromosome 18q21; a syndromic form of congenital secretory sodium diarrhea (see DIAR3, {270420}), caused by mutation in the SPINT2 gene (OMIM ) on chromosome 19q13.1; malabsorptive congenital diarrhea (DIAR4 ), caused by mutation in the NEUROG3 gene (OMIM ) on chromosome 10q21.3; congenital tufting enteropathy (DIAR5 ), caused by mutation in the EPCAM gene (OMIM ) on chromosome 2p21; early-onset chronic diarrhea (DIAR6 ), caused by mutation in the GUCY2C gene (OMIM ) on chromosome 12p13.1-p12.3; neonatal-onset chronic diarrhea (DIAR7 ) caused by mutation in the DGAT1 gene (OMIM ) on chromosome 8q24; and a nonsyndromic form of congenital secretory sodium diarrhea (DIAR8 ), caused by mutation in the SLC9A3 gene (OMIM ) on chromosome 5p15.

CONGENITAL CHLORIDE DIARRHEA Is also known as chloride diarrhea, congenital, finnish type|chloridorrhea, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Polyhydramnios
  • Abnormality of the kidney


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CONGENITAL CHLORIDE DIARRHEA

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

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Other less relevant matches:

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructosemia|fructose-1,6-bisphosphate aldolase b deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|aldob deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Failure to thrive
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FRUCTOSE INTOLERANCE

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

High match FARBER DISEASE

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

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

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Hypokalemia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Proteinuria Generalized hypotonia Jaundice Renal tubular acidosis Hepatomegaly Growth delay Short stature Acidosis Fever Hepatosplenomegaly Aciduria Seizures Intellectual disability Nephrogenic diabetes insipidus Elevated hepatic transaminase Aminoaciduria Polydipsia Renal tubular dysfunction Stage 5 chronic kidney disease Fatigue Constipation Hypophosphatemia

Rare Symptoms - Less than 30% cases

Hyperuricosuria Hepatic steatosis Respiratory insufficiency Hyperbilirubinemia Decreased liver function Corneal opacity Delayed puberty Coma Anemia Glycosuria Muscular hypotonia Nausea Abnormality of the liver Irritability Hypoglycemia Growth abnormality Abdominal pain Respiratory distress Hyperuricemia Talipes calcaneovalgus Malabsorption Rickets Abdominal distention Hypercalciuria Abnormality of the kidney Pancreatitis Ketonuria Osteopenia Renal insufficiency Osteoporosis Generalized aminoaciduria Muscle weakness Hypergalactosemia Diarrhea Hyperphosphaturia Ketosis Pain Lethargy Giant cell hepatitis Hip dysplasia Cataract Sensorineural hearing impairment Postural instability Nausea and vomiting Alkalosis Hearing impairment Microcephaly Low-set ears Ventricular septal defect Hypochloremia Ataxia Arthrogryposis multiplex congenita Ichthyosis Increased circulating renin level Arthralgia Sloping forehead Metabolic alkalosis Cholestatic liver disease Conjugated hyperbilirubinemia Right ventricular hypertrophy Polyuria Lissencephaly Nephrocalcinosis Hyperammonemia Paraparesis Spastic tetraparesis Renal salt wasting Hypomagnesemia Hyperventilation Leukopenia Renal magnesium wasting Rhabdomyolysis Episodic fever Tetraparesis Hypokalemic alkalosis Ischemic stroke Macrocytic anemia Prolonged QT interval Blurred vision Hypocalciuria Tubulointerstitial nephritis Choreoathetosis Pancytopenia Optic atrophy Periodic paralysis Renal potassium wasting Hypovolemia Cardiomyopathy Delayed CNS myelination Dystonia Pollakisuria Nocturia Immunodeficiency Barrel-shaped chest Tetany Thrombocytopenia Enuresis Diabetes mellitus Stroke Hypokalemic metabolic alkalosis Salt craving Neurological speech impairment Chondrocalcinosis Hip dislocation Organic aciduria Joint swelling Laryngomalacia Rheumatoid arthritis Decreased muscle mass Ventricular hypertrophy Epistaxis Pulmonary fibrosis Abnormal bleeding Single transverse palmar crease Talipes Pruritus Weak cry Nonimmune hydrops fetalis Spontaneous abortion Juvenile rheumatoid arthritis Histiocytosis Psychomotor deterioration Hoarse cry Cherry red spot of the macula Periarticular subcutaneous nodules Lipogranulomatosis Micrognathia High palate Talipes equinovarus Hypoplasia of the corpus callosum Atrial septal defect Abnormality of vision Cholestasis Methylmalonic aciduria Nystagmus Homocystinuria Hyperglycinemia Methylmalonic acidemia Severe failure to thrive Tubulointerstitial abnormality Abnormal globus pallidus morphology Cerebellar hemorrhage Chronic metabolic acidosis Diabetes insipidus Congenital hip dislocation Metabolic ketoacidosis Motor delay Hoarse voice Hyperkeratosis Edema Splenomegaly Kyphosis Recurrent respiratory infections Arthritis Abnormality of the eye Joint stiffness Ascites Ventricular arrhythmia Subcutaneous nodule Hydrops fetalis Hyperkinesis Galactose intolerance Ventricular tachycardia Malnutrition Anterior lenticonus Tracheobronchial leiomyomatosis Feeding difficulties Carious teeth Lactic acidosis Cirrhosis Hepatic failure Gastrointestinal hemorrhage Meningitis Shock Prolonged neonatal jaundice Diffuse glomerular basement membrane lamellation Neonatal hypoglycemia Recurrent hypoglycemia Proximal tubulopathy Hemophagocytosis Hypersomnia Disseminated intravascular coagulation Proximal renal tubular acidosis Fructose intolerance Bicarbonaturia Transient aminoaciduria Diffuse leiomyomatosis High-frequency sensorineural hearing impairment Severe short stature Hyperactive renin-angiotensin system Polyhydramnios Premature birth Abnormality of the cardiovascular system Chronic diarrhea Abnormal intestine morphology Chronic kidney disease Hyponatremia Intestinal obstruction Hyperaldosteronism Secretory diarrhea Dysphagia Lenticonus Dyspnea Cough Congenital cataract Hematuria Asthma Skeletal muscle hypertrophy Wheezing Microscopic hematuria Macroscopic hematuria Thickening of the glomerular basement membrane Obesity Hyperlordosis Cardiac arrest Anxiety Stereotypy Type I diabetes mellitus Cranial nerve paralysis Portal hypertension Dysphasia Corneal crystals Retinal pigment epithelial mottling Elevated intracellular cystine Hypertension Arrhythmia Erythema Abnormal pyramidal sign Paralysis Paresthesia Confusion Vertigo Tachycardia Muscle cramps Generalized muscle weakness Hypotension Palpitations Inflammatory abnormality of the skin Pigmentary retinopathy Retinopathy Increased body weight Microalbuminuria Hyperlipidemia Hypercholesterolemia Elevated alkaline phosphatase Hyperglycemia Bowing of the legs Reduced subcutaneous adipose tissue Osteomalacia Poor appetite Protuberant abdomen Fasting hypoglycemia Hypouricemia Photophobia Mild proteinuria Albuminuria Galactosuria Impairment of galactose metabolism Chronic acidosis Visual impairment Gait disturbance Myopathy Intellectual disability, mild Headache Hypothyroidism Lichenification


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Elevated serum creatine phosphokinase, related diseases and genetic alterations Hepatomegaly and Long philtrum, related diseases and genetic alterations Spasticity and Autism, related diseases and genetic alterations Failure to thrive and Single transverse palmar crease, related diseases and genetic alterations Muscle weakness and Nephritis, related diseases and genetic alterations Delayed speech and language development and Short neck, related diseases and genetic alterations