Edema, and Hypertriglyceridemia

Diseases related with Edema and Hypertriglyceridemia

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

Top matches:

Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Other less relevant matches:

Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Hypertriglyceridemia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypoalbuminemia Ataxia Hepatosplenomegaly Hepatomegaly Coma Global developmental delay Lymphadenopathy Jaundice Elevated hepatic transaminase Abnormality of the liver Generalized hypotonia Peripheral neuropathy Leukemia Irritability Vomiting Purpura Failure to thrive Hemophagocytosis Hyponatremia Leukopenia Pancytopenia Diarrhea Hypofibrinogenemia Pain Hyperpigmentation of the skin Decreased liver function Recurrent infections Immunodeficiency Hemolytic anemia

Rare Symptoms - Less than 30% cases

Lymphopenia Meningitis Neoplasm Tetraplegia Skin rash Lymphoma Hypertonia Encephalitis Peripheral demyelination Albinism Increased antibody level in blood Partial albinism Intellectual disability Skeletal muscle atrophy Increased intracranial pressure Developmental regression Hemiplegia CSF pleocytosis Hypopigmentation of the skin Pulmonary infiltrates Histiocytosis Abnormality of the eye Gait disturbance Sepsis Abnormality of the nervous system Increased total bilirubin Abnormal bleeding Mental deterioration Prolonged prothrombin time Immune dysregulation Generalized edema Hypoproteinemia Increased serum ferritin Increased CSF protein Retinopathy Strabismus Hepatic failure Proteinuria Cholestasis Enterocolitis Tremor Erythema Scarring Stage 5 chronic kidney disease Cutaneous photosensitivity Hyperlipidemia Microcytic anemia Confusion Paresthesia Falls Flexion contracture of toe Macroglossia Prominent nose Cardiomegaly Thick lower lip vermilion Bone pain Elbow flexion contracture Hypochromic anemia Conjunctivitis Myositis Abnormally large globe Lipodystrophy Glucose intolerance Generalized lipodystrophy Long fingers Inability to walk Hypermelanotic macule Elevated erythrocyte sedimentation rate Basal ganglia calcification Rimmed vacuoles Clubbing of fingers Growth abnormality Osteopenia Camptodactyly of finger Plasmacytosis Episodic fever Severe combined immunodeficiency Acute leukemia Prolonged partial thromboplastin time Decreased HDL cholesterol concentration Cellular immunodeficiency Increased LDL cholesterol concentration Pruritus Granulocytopenia T-cell lymphoma Increased VLDL cholesterol concentration Polyneuritis Lipogranulomatosis Arthritis Abnormal natural killer cell physiology Short stature Muscle weakness Flexion contracture Congestive heart failure Intellectual disability, mild Arrhythmia Babinski sign Hyperhidrosis Macrotia Panniculitis Arthralgia Erythema nodosum Adipose tissue loss Episcleritis Fair hair Abnormality of vision Decreased nerve conduction velocity Melanocytic nevus Cerebral hemorrhage Sensory axonal neuropathy Resting tremor Generalized hyperpigmentation Hypopigmentation of hair Gingival bleeding Iris hypopigmentation Gingivitis Periodontitis Generalized hypopigmentation Foot dorsiflexor weakness White hair Spinocerebellar tract degeneration Progressive peripheral neuropathy Hypersplenism Macular hypoplasia Recurrent bacterial skin infections Oculogyric crisis Abnormal leukocyte morphology Recurrent cutaneous abscess formation Giant melanosomes in melanocytes Abnormality of multiple cell lineages in the bone marrow Recurrent systemic pyogenic infections Cranial nerve paralysis Skin ulcer Stiff skin Spastic paraplegia Finger swelling Nystagmus Visual impairment Atrial septal defect Cerebellar atrophy Areflexia Hyporeflexia Recurrent respiratory infections Reduced visual acuity Difficulty walking Photophobia Rigidity Abnormality of movement Amblyopia Paraplegia Peripheral axonal neuropathy Bruising susceptibility Sensory neuropathy Neurodegeneration Neutropenia Parkinsonism Brain atrophy Gastrointestinal hemorrhage Bradykinesia Abnormality of extrapyramidal motor function Epistaxis Combined immunodeficiency Hepatic steatosis Abnormality of the coagulation cascade Elevated serum creatinine Decreased serum complement C3 Schistocytosis Abnormal lactate dehydrogenase activity Azotemia Microangiopathic hemolytic anemia Anuria Abnormality of coagulation Increased blood urea nitrogen Complement deficiency Papilledema Hemolytic-uremic syndrome Reticulocytosis Decreased serum complement factor B Acute kidney injury Abnormality of blood and blood-forming tissues Dysphasia Hemiparesis Hematuria Dementia Nephropathy Cirrhosis Abnormality of metabolism/homeostasis Renal insufficiency Subcutaneous nodule Cardiomyopathy Diplopia Abnormality of complement system Petechiae Enuresis Psychosis Hallucinations Hepatic fibrosis Pancreatitis Hyperammonemia Restlessness Drowsiness Insomnia Hepatocellular carcinoma Delusions Intrahepatic cholestasis Echolalia Cerebral edema Decreased serum complement factor I Mania Delirium Delayed menarche Hypoargininemia Lethargy Aggressive behavior Carcinoma Hyperactivity Obesity Decreased level of thrombomodulin Headache Decreased serum complement factor H Cafe-au-lait spot Autoimmune thrombocytopenia Eosinophilia Primary hypothyroidism Focal-onset seizure Nephrotic syndrome Epidermal acanthosis Tetraparesis Hypocalcemia Recurrent bacterial infections Glomerulosclerosis Focal impaired awareness seizure Focal segmental glomerulosclerosis Adrenal insufficiency Primary adrenal insufficiency Diffuse mesangial sclerosis Inflammatory abnormality of the skin Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Absent testis Muscular hypotonia Eczema Encephalopathy Abnormal blistering of the skin Gliosis Polyneuropathy Memory impairment Aspiration Hyperbilirubinemia Ichthyosis Cholelithiasis Blepharitis Hypercholesterolemia Hypertension Cognitive impairment Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Elevated serum acid phosphatase Sea-blue histiocytosis Acidosis Metabolic acidosis Cholecystitis Abnormal intestine morphology Malnutrition Hypoglycemia Villous atrophy Protein-losing enteropathy Intractable diarrhea Hearing impairment Microcephaly Acute hepatic failure Sensorineural hearing impairment Cryptorchidism Ptosis Hypogonadism Micropenis Hypothyroidism Generalized hypopigmentation of hair


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Prominent nasal bridge, related diseases and genetic alterations Tremor and Pancreatitis, related diseases and genetic alterations Depressed nasal bridge and Gait ataxia, related diseases and genetic alterations