Failure to thrive, and Sepsis

Diseases related with Failure to thrive and Sepsis

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

Top matches:

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: MESH OMIM MENDELIAN

More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

ENTERIC ANENDOCRINOSIS Is also known as enteric anendocrinosis|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ENTERIC ANENDOCRINOSIS

Other less relevant matches:

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

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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

Symptoms // Phenotype % cases
Diarrhea Very Common - Between 80% and 100% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Malnutrition Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Dehydration Anemia Hepatic failure Meningitis Decreased antibody level in blood Growth delay

Rare Symptoms - Less than 30% cases

Metabolic acidosis Type I diabetes mellitus Thrombocytopenia Intractable diarrhea Pruritus Abdominal distention Vomiting Abnormal intestine morphology Villous atrophy Weight loss Severe combined immunodeficiency Hypoplasia of the thymus Pneumonia Hearing impairment Combined immunodeficiency Respiratory tract infection Cardiac arrest Jaundice Steatorrhea Short stature Agammaglobulinemia IgA deficiency Severe short stature Hepatic fibrosis Rod-cone dystrophy Cholestasis Neuronal loss in central nervous system Cirrhosis Hepatosplenomegaly Carcinoma Ophthalmoplegia Abnormality of the liver Neoplasm Speech articulation difficulties Pes cavus Abnormal bleeding Gait disturbance Osteoporosis Hypoglycemia Lethargy Nausea and vomiting Abnormality of movement Speech apraxia Areflexia Abnormality of the ovary Decreased fertility in females Pancreatitis Impairment of galactose metabolism Sensorineural hearing impairment Hepatomegaly Splenomegaly Hyperbilirubinemia Intrauterine growth retardation Congenital sensorineural hearing impairment Abnormality of the coagulation cascade Nephrotic syndrome Inflammatory abnormality of the skin Eosinophilia Nephritis Erythroderma Hyperglycemia Abnormality of the thyroid gland Eczema Autoimmune hemolytic anemia Thyroiditis Ketoacidosis Immune dysregulation Ileus Pancreatic hypoplasia Hepatitis Hemolytic anemia Hepatocellular carcinoma Civatte bodies Thrombocytosis Intrahepatic cholestasis Conjugated hyperbilirubinemia Fat malabsorption Intermittent jaundice Vitamin E deficiency Increased serum bile acid concentration Lymphadenopathy Intrahepatic cholestasis with episodic jaundice Dysarthria Diabetes mellitus Hypothyroidism Arthritis Autoimmunity Tremor Skin ulcer Feeding difficulties Global developmental delay Gastroesophageal reflux Cognitive impairment Chronic oral candidiasis Intermittent thrombocytopenia Recurrent sinopulmonary infections Conjunctivitis Neutropenia Abnormality of small intestinal villus morphology Abnormal delivery Protracted diarrhea Hypovolemia Abnormal renal physiology Nephrocalcinosis Polyhydramnios Abnormal cellular phenotype Intestinal malrotation Hyperchloremic metabolic acidosis Cholestatic liver disease Portal hypertension Decreased body weight Acidosis Osteomyelitis Disseminated cryptosporidium infection Recurrent meningococcal disease Susceptibility to herpesvirus Recurrent Klebsiella infections Recurrent skin infections Recurrent bacterial infections Otitis media Respiratory failure Hypotrichosis Aganglionic megacolon Cataract Leukopenia Ataxia Intellectual disability Lack of T cell function Congenital agranulocytosis Agranulocytosis Aplasia/Hypoplasia of the thymus Aplasia of the thymus Abnormality of the thymus Granulocytopenia Impaired T cell function Abnormality of neutrophils Cellular immunodeficiency Chronic otitis media Abnormality of mitochondrial metabolism Lymphopenia Increased body weight Absent hand Hemivertebrae Pyloric stenosis Dextrocardia Lipoatrophy Volvulus Gastroparesis Displacement of the external urethral meatus Skin rash Congenital shortened small intestine Intestinal hypoplasia Decreased intestinal transit time Abnormal peristalsis Fever Recurrent respiratory infections Secretory diarrhea


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