Anemia, and Diarrhea

Diseases related with Anemia and Diarrhea

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


Top matches:

Low match JERVELL AND LANGE-NIELSEN SYNDROME


Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

Low match PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY


Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).

PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY Is also known as lipase, congenital absence of pancreatic|pl deficiency|pancreatic triglyceride lipase deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Diarrhea
  • Respiratory tract infection
  • Malabsorption


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCREATIC TRIACYLGLYCEROL LIPASE DEFICIENCY

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Other less relevant matches:

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 CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY


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

Low match RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

Low match PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY


Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III


Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III Is also known as anemia with multinucleated erythroblasts|erythroreticulosis, hereditary benign|congenital dyserythropoietic anemia type 3|cda type 3|dyserythropoietic anemia, congenital, type iii|cda iii|cda type iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Fatigue
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III

Top 5 symptoms//phenotypes associated to Anemia and Diarrhea

Symptoms // Phenotype % cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Diarrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fatigue

Rare Symptoms - Less than 30% cases


Immunodeficiency Intrauterine growth retardation Iron deficiency anemia Growth delay Hypertension Malabsorption Tachycardia Ascites Pain Gastrointestinal hemorrhage Hyperbilirubinemia Thrombocytopenia Seizures Sepsis Neutropenia Recurrent infections Elevated urinary delta-aminolevulinic acid Abdominal colic Wrist drop Psychosis Abnormality of the pinna Respiratory paralysis Pneumonia Motor axonal neuropathy Diabetes mellitus Nail dysplasia Intestinal malrotation Hyponatremia Hemiparesis Myelodysplasia Polyneuropathy Sensory neuropathy Paresthesia Fragile nails Constipation Behavioral abnormality Vomiting Hyperglycemia Recurrent bacterial infections Respiratory insufficiency Peripheral neuropathy Muscular hypotonia Generalized hypotonia Myelofibrosis Recurrent otitis media Duodenal atresia Tracheoesophageal fistula Congenital hypoplastic anemia Gingival bleeding Anisocytosis Increased mean corpuscular volume Multiple myeloma Anemia of inadequate production Poikilocytosis Melena Erythroid hyperplasia Heterotopia Increased serum iron Abnormal erythrocyte morphology Abnormal cellular phenotype Post-partum hemorrhage Oral cavity bleeding Increased total iron binding capacity Abnormal proerythroblast morphology Abnormal erythroid lineage cell morphology Macrocytic anemia Pallor Anteriorly placed anus Meckel diverticulum Severe intrauterine growth retardation Ketoacidosis Maternal diabetes Global developmental delay Intestinal atresia Biliary atresia Pancreatic hypoplasia Absent gallbladder Elevated hepatic transaminase Annular pancreas Diabetic ketoacidosis Acholic stools Jejunal atresia Short stature Neoplasm Proptosis Jaundice Abnormality of the skeletal system Adrenal overactivity Chronic oral candidiasis Celiac disease Torsade de pointes T-wave alternans Respiratory tract infection Abdominal distention Cholelithiasis Steatorrhea Exocrine pancreatic insufficiency Epileptic spasms Megaloblastic anemia Abnormality of the pancreas Hypolipidemia Hypertelorism Abnormal facial shape Depressed nasal bridge T-wave inversion Prolonged QT interval Wide nasal bridge Syncope Dyspnea Arthralgia Urticaria Paroxysmal nocturnal hemoglobinuria Hearing impairment Sudden cardiac death Bilateral sensorineural hearing impairment Vestibular dysfunction Cardiac arrest Ventricular tachycardia Abnormal intestine morphology Delayed gross motor development Ventricular arrhythmia Congenital sensorineural hearing impairment Ventricular fibrillation Hepatomegaly Prominent forehead Intermittent thrombocytopenia Adrenocortical adenoma Nausea and vomiting Lymphadenopathy Anorexia Pulmonary infiltrates Pheochromocytoma Paraganglioma Mediastinal lymphadenopathy Decreased serum iron Leiomyosarcoma Gastrointestinal stroma tumor Decreased antibody level in blood Meningitis Conjunctivitis Agammaglobulinemia Recurrent sinopulmonary infections Arrhythmia Uncombable hair Abnormality of the liver Colitis Sparse hair Small for gestational age Cirrhosis Wide nose Hepatitis Brittle hair Microcytic anemia Pili canaliculi Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Bloody diarrhea Chronic hepatitis Intractable diarrhea Hemosiderinuria



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