Edema, and Polyhydramnios

Diseases related with Edema and Polyhydramnios

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

Top matches:

Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Other less relevant matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

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

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.

MICROVILLUS INCLUSION DISEASE Is also known as mvid|congenital microvillus atrophy|microvillous inclusion disease|congenital microvillous atrophy|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|intractable diarrhea of infancy|microvillus inclusion disease|davidson di

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Polyhydramnios


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROVILLUS INCLUSION DISEASE

Top 5 symptoms//phenotypes associated to Edema and Polyhydramnios

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Abnormal intestine morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Polyhydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Premature birth Hypokalemia Hyponatremia Global developmental delay Hyperaldosteronism Alkalosis Hydrops fetalis Metabolic alkalosis Hypochloremia

Rare Symptoms - Less than 30% cases

Increased urinary potassium Macrocephaly Sensorineural hearing impairment Muscular hypotonia Growth delay Abdominal distention Renal insufficiency Hyporeflexia Small for gestational age Nephrocalcinosis Hypercalciuria Frontal bossing Hypernatriuria Short neck Fatigue Hypokalemic hypochloremic metabolic alkalosis Renal salt wasting Hyperchloriduria Fetal polyuria Decreased glomerular filtration rate Hypokalemic metabolic alkalosis Anemia Polyuria Diarrhea Hypertelorism Intellectual disability Lymphedema Flat face Congestive heart failure Abnormal facial shape Anteverted nares Villous atrophy Short nose Malnutrition Long philtrum Severe short stature Abnormality of cardiovascular system morphology Umbilical hernia Narrow chest Micromelia Short foot Talipes equinovarus Protracted diarrhea Abnormal renal physiology Hypovolemia Short thorax Micrognathia Hyperactive renin-angiotensin system Secretory diarrhea Increased circulating renin level Intestinal obstruction Chronic kidney disease Growth abnormality Chronic diarrhea Abnormality of the cardiovascular system Intractable diarrhea Abnormal delivery Abnormality of the ribs Clinodactyly Cystic hygroma Epiphyseal dysplasia Inguinal hernia Agenesis of corpus callosum Pectus excavatum Pectus carinatum Finger syndactyly Hip dislocation Genu valgum Nephropathy Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Joint dislocation Molar tooth sign on MRI Disproportionate short stature Multiple epiphyseal dysplasia Enlarged joints Pruritus Malabsorption Metabolic acidosis Obesity Malar flattening Low-set ears Sepsis Abnormal enchondral ossification Femoral hernia Lethal skeletal dysplasia Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Hearing impairment Abnormality of the kidney Pallor Muscle weakness Abnormality of metabolism/homeostasis Short stature Facial edema Protein-losing enteropathy Synophrys Hepatosplenomegaly Upslanted palpebral fissure Strabismus Abnormal hemoglobin Preeclampsia Pericarditis Oligohydramnios Splenomegaly Hypertension Hydrocephalus Hepatomegaly B lymphocytopenia Acute lymphoblastic leukemia Recurrent bacterial infections Aspiration Lymphopenia Pancytopenia Decreased antibody level in blood Leukemia Thrombocytopenia Recurrent infections Immunodeficiency Pain Respiratory insufficiency Reduced renal corticomedullary differentiation Protruding ear Hypochloremic metabolic alkalosis Global glomerulosclerosis Mesangial hypercellularity Hypokalemic alkalosis Tubulointerstitial fibrosis Abnormally large globe Congenital sensorineural hearing impairment Polydipsia Glomerulosclerosis Nephrolithiasis Triangular face Postural instability Stage 5 chronic kidney disease Prominent forehead Abdominal pain Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Increased serum pyruvate Severe lactic acidosis Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Bradycardia Decreased fetal movement Increased serum lactate Lactic acidosis Acidosis Respiratory failure Abnormality of small intestinal villus morphology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Unsteady gait, related diseases and genetic alterations Intellectual disability, severe and Lower limb muscle weakness, related diseases and genetic alterations Macrocephaly and Spinal muscular atrophy, related diseases and genetic alterations