Growth delay, and Inflammation of the large intestine

Diseases related with Growth delay and Inflammation of the large intestine

In the following list you will find some of the most common rare diseases related to Growth delay and Inflammation of the large intestine that can help you solving undiagnosed cases.


Top matches:

Low match INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1


Related symptoms:

  • Growth delay
  • Neoplasm
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


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

Low match IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE


IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE Is also known as il21-related infantile ibd|il21 deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE

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Other less relevant matches:

Low match IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY


Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Low match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


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

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5


Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Top 5 symptoms//phenotypes associated to Growth delay and Inflammation of the large intestine

Symptoms // Phenotype % cases
Diarrhea Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Colitis Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Growth delay and Inflammation of the large intestine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lymphopenia Short stature Failure to thrive Respiratory tract infection Chronic diarrhea Hepatitis Small for gestational age Recurrent infections Intrauterine growth retardation Arthritis Autoimmunity Recurrent respiratory infections

Rare Symptoms - Less than 30% cases


Pneumonia Neutropenia Type I diabetes mellitus Abnormal intestine morphology Delayed puberty Microcephaly Autoimmune hemolytic anemia Arthralgia Bloody diarrhea Recurrent bacterial infections Nail dystrophy Pain Splenomegaly Seizures Thrombocytopenia Hemolytic anemia Lymphadenopathy Enterocolitis Ventricular septal defect Sparse hair Recurrent aphthous stomatitis Psoriasiform dermatitis Hepatomegaly Hypoglycemia Ectopic calcification Duodenal stenosis Elevated hepatic transaminase Proteinuria Rectal abscess Acidosis Osteoporosis Hypertension Microcolon Interstitial pneumonitis Primary hypothyroidism Recurrent ear infections Atopic dermatitis Autoimmune thrombocytopenia Omphalocele Abnormal bleeding Jejunoileal ulceration Diabetes mellitus Hypothyroidism Hepatosplenomegaly Leukemia Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Eczema Scleroderma Decreased proportion of CD8-positive T cells Inflammatory abnormality of the skin Abnormal lung morphology Gastrointestinal atresia Jejunal atresia Interstitial pulmonary abnormality Celiac disease Lactic acidosis Hyperlipidemia Nephrolithiasis Absent eyebrow Decreased glomerular filtration rate Lipemia retinalis Doll-like facies Thyroiditis Abnormality of the skeletal system Combined immunodeficiency Alopecia Hashimoto thyroiditis Polyhydramnios Scarring Anal atresia Abdominal distention Thickened skin Sepsis Oral ulcer Esophageal stenosis Intestinal malrotation Abnormality of abdomen morphology Intestinal atresia Hypoplasia of the thymus Pancreatitis Focal segmental glomerulosclerosis Duodenal atresia Hematochezia Hyperuricemia Alopecia of scalp Protuberant abdomen Severe combined immunodeficiency Hepatocellular carcinoma Enlarged kidney Gout Xanthomatosis Xanthelasma Abnormality of the dentition Increased serum ferritin Esophageal stricture Pili canaliculi Microcytic anemia Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Chronic hepatitis Intractable diarrhea Uncombable hair Wide nose Decreased serum iron Erythema Clubbing Malnutrition Severe failure to thrive Intellectual disability Nephropathy Brittle hair Cirrhosis Recurrent skin infections Immune dysregulation Abdominal pain Weight loss Intestinal obstruction Colon cancer Abnormality of the gastrointestinal tract Ulcerative colitis Cholangitis Chronic infection Abnormality of the liver Crohn's disease Sclerosing cholangitis Hypertelorism Abnormal facial shape Depressed nasal bridge Wide nasal bridge Prominent forehead Nephrotic syndrome Recurrent lower respiratory tract infections Oral leukoplakia Depressivity Loss of consciousness Neoplasm Disseminated intravascular coagulation Secretory diarrhea Diffuse alveolar hemorrhage Global developmental delay Cerebellar atrophy Cerebellar hypoplasia Decreased liver function Postnatal growth retardation Carious teeth Abnormality of skin pigmentation Nail dysplasia Bone marrow hypocellularity Leukopenia Pulmonary fibrosis Abnormality of the coagulation cascade Pancytopenia Verrucae Allergy Membranous nephropathy Recurrent abscess formation Lymphoma Bronchiectasis Recurrent upper respiratory tract infections Neurodevelopmental delay B-cell lymphoma Recurrent sinopulmonary infections Tachycardia Chronic lymphatic leukemia Enlarged tonsils Fever Fatigue Vomiting Myalgia Skin rash Abnormality of the ductus choledochus



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