Edema, and Abdominal distention

Diseases related with Edema and Abdominal distention

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


Top matches:

Low match OVARIAN HYPERSTIMULATION SYNDROME


A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

OVARIAN HYPERSTIMULATION SYNDROME Is also known as ovarian hyperstimulation syndrome, familial gestational spontaneous|ohss

Related symptoms:

  • Abdominal pain
  • Nausea and vomiting
  • Infertility
  • Nausea
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OVARIAN HYPERSTIMULATION SYNDROME

Low match SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID


characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

Low match GLUCOSE-GALACTOSE MALABSORPTION


Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.

GLUCOSE-GALACTOSE MALABSORPTION Is also known as monosaccharide malabsorption|sglt1 deficiency|gm

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Weight loss
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUCOSE-GALACTOSE MALABSORPTION

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Other less relevant matches:

Low match CONGENITAL CHLORIDE DIARRHEA


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

Low match CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE


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

Low match MICROVILLUS INCLUSION DISEASE


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

Low match ACHONDROGENESIS TYPE 2


Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Low match ACHONDROGENESIS TYPE 1A


Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

Low match ACHONDROGENESIS, TYPE IB; ACG1B


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACHONDROGENESIS, TYPE IB; ACG1B

Low match CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME


Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial|hypertrophic synovitis, congenital familial|pac syndrome|camptodactyly-arthropathy-pericarditis syndrome|arthropathy-camptodactyly syndrome|cacp syndrome|jacobs syndrome|pericarditis-arthropathy-camptodactyly syndrome|cap syn

Related symptoms:

  • Pain
  • Flexion contracture
  • Dyspnea
  • Arthritis
  • Camptodactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Abdominal distention

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cystic hygroma Abnormal enchondral ossification Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Hydrops fetalis Flat face Micromelia Narrow chest Umbilical hernia Abnormality of cardiovascular system morphology Long philtrum Short nose Short neck Anteverted nares Frontal bossing Macrocephaly Micrognathia Malabsorption

Rare Symptoms - Less than 30% cases


Abnormality of the kidney Short thorax Abdominal pain Severe short stature Femoral hernia Lethal skeletal dysplasia Metabolic acidosis Chronic diarrhea Abnormal intestine morphology Malnutrition Hypovolemia Pleural effusion Cutis marmorata Flexion contracture of toe Pericarditis Uveitis Juvenile rheumatoid arthritis Synovitis Wrist flexion contracture Hip pain Thoracic hypoplasia Disproportionate short-limb short stature Pleuritis Postaxial hand polydactyly Constrictive pericarditis Iridocyclitis Short foot Serositis Congenital finger flexion contractures Coxa magna Flattened metatarsal heads Flattened metacarpal heads Synovial hypertrophy Pericardial constriction Digital flexor tenosynovitis Abnormality of small intestinal villus morphology Abnormal delivery Short palm Arthropathy Recurrent fractures Flexion contracture Coxa vara Elbow flexion contracture Mitral regurgitation Mitral valve prolapse Chest pain Exertional dyspnea Abnormality of the foot Skin rash Camptodactyly Protracted diarrhea Arthritis Dyspnea Pain Pericardial effusion Absent or minimally ossified vertebral bodies Abnormality of bone mineral density Neonatal short-limb short stature Breech presentation Hypoplastic ilia Short ribs Skeletal dysplasia Inguinal hernia Abnormal joint morphology Malar flattening Respiratory insufficiency Multiple rib fractures Intractable diarrhea Elevated amniotic fluid alpha-fetoprotein Abnormal renal physiology Hyperactive bowel sounds Abdominal colic Weight loss Acidosis Glycosuria Hypernatremia Abnormal oral glucose tolerance Hypertonic dehydration Nephropathy Nephrolithiasis Premature birth Abnormality of the cardiovascular system Growth abnormality Chronic kidney disease Hypokalemia Hyponatremia Intestinal obstruction Failure to thrive in infancy Irritability Alkalosis Generalized edema Infertility Nausea Hirsutism Ascites Aspiration Abnormality of the genitourinary system Increased circulating gonadotropin level Pulmonary edema Abnormality of metabolism/homeostasis Ovarian cyst Enlarged polycystic ovaries Peripheral edema Increased serum testosterone level Capillary leak Hemorrhagic ovarian cyst Vomiting Hyperaldosteronism Metabolic alkalosis Villous atrophy Congenital nephrotic syndrome Focal segmental glomerulosclerosis Tubular atrophy Hypoproteinemia Abnormality of the renal tubule Diffuse mesangial sclerosis Delayed eruption of permanent teeth Steroid-resistant nephrotic syndrome Mesangial hypercellularity Glomerulosclerosis Nausea and vomiting Podocyte foot process effacement Heavy proteinuria Global developmental delay Pruritus Sepsis Nephrocalcinosis Neonatal respiratory distress Pyloric stenosis Increased circulating renin level Proteinuria Secretory diarrhea Hypochloremia Hyperactive renin-angiotensin system Renal insufficiency Recurrent infections Hypothyroidism Gastroesophageal reflux Respiratory tract infection Hypoalbuminemia Scarring Small for gestational age Confusion Stage 5 chronic kidney disease Nephrotic syndrome Hyperlipidemia Hypercholesterolemia Generalized morning stiffness



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