Failure to thrive, and Colitis

Diseases related with Failure to thrive and Colitis

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

Top matches:

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Related symptoms:

  • Failure to thrive
  • Pain
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Other less relevant matches:

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Medium match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Medium match HIRSCHSPRUNG DISEASE

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

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

Symptoms // Phenotype % cases
Diarrhea Common - Between 50% and 80% cases
Enterocolitis Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Chronic diarrhea Vomiting Intellectual disability Villous atrophy Generalized hypotonia Pain Abnormality of the liver Splenomegaly Pneumonia Fatigue Immunodeficiency

Rare Symptoms - Less than 30% cases

Abnormal intestine morphology Hepatic steatosis Growth delay Muscular hypotonia Secretory diarrhea Pancytopenia Arthritis Fever Short stature Abnormality of the coagulation cascade Recurrent respiratory infections Visual impairment Feeding difficulties Congestive heart failure Abdominal distention Micrognathia Neoplasm Hearing impairment Hypertelorism Cerebellar atrophy Nystagmus Gait disturbance Ataxia Inflammation of the large intestine Failure to thrive in infancy Bronchiectasis Respiratory tract infection Recurrent upper respiratory tract infections Visual loss Dystonia Combined immunodeficiency Lethargy Abdominal pain Decreased antibody level in blood Gastrointestinal hemorrhage Neutropenia Depressed nasal bridge Cirrhosis Hepatosplenomegaly Abnormal facial shape Recurrent infections Malabsorption Recurrent urinary tract infections Type I diabetes mellitus Abnormal lung morphology Lymphoma Recurrent otitis media Inflammatory abnormality of the skin Otitis media Purpura Asthma Hemolytic anemia Conjunctivitis Recurrent sinusitis Clubbing Interstitial pulmonary abnormality Autoimmune hemolytic anemia IgA deficiency Fatigable weakness Autoimmune thrombocytopenia Exocrine pancreatic insufficiency Chronic lung disease Clubbing of fingers Brain neoplasm Verrucae Cor pulmonale Immune dysregulation IgM deficiency Gastritis Lymphadenopathy Diabetes mellitus Autoimmunity Long nose Thick eyebrow Sepsis Dental malocclusion Sloping forehead Aganglionic megacolon Long eyelashes Low anterior hairline Increased body weight Abnormal autonomic nervous system physiology Adducted thumb Intestinal obstruction Flat occiput Malnutrition Hypoventilation Hypothyroidism Heterochromia iridis Neoplasm of the endocrine system Intestinal polyposis Central hypoventilation Anteverted ears Total colonic aganglionosis Neoplasm of the thyroid gland Functional abnormality of the gastrointestinal tract Intestinal perforation Total intestinal aganglionosis Abnormality of enteric ganglion morphology Thrombocytopenia Generalized lymphadenopathy Respiratory failure Interstitial pneumonitis Low-set ears Follicular hyperplasia Delayed cranial suture closure Progressive visual loss Peripheral demyelination Split hand Cholestasis Heterotopia Pachygyria Large fontanelles Aspiration Progressive hearing impairment Decreased nerve conduction velocity Hammertoe Aplasia/Hypoplasia of the cerebellum Decreased muscle mass Thoracic hypoplasia Ascites Cortical dysplasia Primary adrenal insufficiency Scaphocephaly Adrenal hypoplasia Aspiration pneumonia Undetectable electroretinogram Corpus callosum atrophy Bile duct proliferation Cerebral dysmyelination Cerebral hypoplasia Chylous ascites Renal cortical microcysts Fetal ascites Calcific stippling Gliosis Renal cyst Burkitt lymphoma Dilatation Strabismus Cataract Prominent nasal bridge High palate Epicanthus Skeletal muscle atrophy Macrocephaly Optic atrophy Frontal bossing Talipes equinovarus Ventriculomegaly Hypoplasia of the corpus callosum Long philtrum Hypospadias Polymicrogyria Pectus excavatum Delayed skeletal maturation Upslanted palpebral fissure Polyhydramnios High forehead Osteopenia Retrognathia Neonatal hypotonia Elevated hepatic transaminase Feeding difficulties in infancy Severe global developmental delay Dolichocephaly Abnormality of the cerebral white matter Talipes Nausea and vomiting Ptosis Weight loss Abnormal thrombosis Hypoglycemia Apnea Hepatic failure Coma Abnormal bleeding Lymphedema Hepatic fibrosis Hypoalbuminemia Hyperinsulinemic hypoglycemia Hypoproteinemia Generalized edema Congenital hepatic fibrosis Protein-losing enteropathy Type I transferrin isoform profile Abnormality of the cardiovascular system Microvesicular hepatic steatosis Intestinal lymphangiectasia Reduced antithrombin III activity Reduced factor XI activity Lymphangiectasis Decreased serum iron Uncombable hair Dysarthria Pili canaliculi Blindness Intractable diarrhea Abnormality of metabolism/homeostasis Hernia Edema Hypertriglyceridemia Inguinal hernia Increased circulating chylomicron concentration Encephalitis Recurrent lower respiratory tract infections Agammaglobulinemia Chronic mucocutaneous candidiasis Recurrent viral infections Cholangitis Recurrent fungal infections Protracted diarrhea Panhypogammaglobulinemia Cutaneous anergy Viral hepatitis Chronic lymphocytic meningitis Recurrent protozoan infections Lipemia retinalis Diffuse alveolar hemorrhage Arthralgia Myalgia Eruptive xanthomas Skin rash Tachycardia Acute pancreatitis Decreased liver function Lymphopenia Hyperlipoproteinemia Loss of consciousness Increased serum ferritin Hyperlipidemia Disseminated intravascular coagulation Pancreatitis Chronic hepatitis Bloody diarrhea Hypogonadism Megaloblastic bone marrow Sparse hair Aciduria Dehydration Anorexia Intracranial hemorrhage Megaloblastic anemia Increased mean corpuscular volume Methylmalonic aciduria Spastic ataxia Homocystinuria Methylmalonic acidemia Hyperhomocystinemia Decreased methylcobalamin Decreased methionine synthase activity Abnormality of the nervous system Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Prominent forehead Microcephaly Scoliosis Intrauterine growth retardation Wide nasal bridge Sensorineural hearing impairment Spasticity Recurrent bacterial infections Myopathy Constipation Pallor Acidosis Hypochromic microcytic anemia Keratitis Hyperkeratosis Photophobia Trichorrhexis nodosa Scarring Abnormality of skin pigmentation Woolly hair Hypohidrosis Hyperpigmentation of the skin Recurrent pneumonia Opacification of the corneal stroma Corneal dystrophy Microcytic anemia Hemiplegia Brittle hair Cerebral cortical atrophy Amyloidosis Ulcerative colitis Focal dystonia Corneal scarring Broad eyebrow Urethral stricture Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Hepatitis Wide nose Respiratory distress Small for gestational age Behavioral abnormality Generalized cerebral atrophy/hypoplasia


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