Anemia, and Anorexia

Diseases related with Anemia and Anorexia

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


Top matches:

Medium 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

Medium match NEUROENDOCRINE TUMOR OF STOMACH


Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.

NEUROENDOCRINE TUMOR OF STOMACH Is also known as gnet|net of stomach|gastric net|gastric neuroendocrine tumor

Related symptoms:

  • Hepatomegaly
  • Weight loss
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Hepatic failure


SOURCES: ORPHANET MENDELIAN

More info about NEUROENDOCRINE TUMOR OF STOMACH

Medium match IMMUNODEFICIENCY 27A; IMD27A


Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (OMIM ), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

IMMUNODEFICIENCY 27A; IMD27A Is also known as ifngr1 deficiency, autosomal recessive|immunodeficiency 27a, mycobacteriosis, autosomal recessive

Related symptoms:

  • Anemia
  • Fever
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 27A; IMD27A

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Other less relevant matches:

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Medium match GLUCAGONOMA


Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

GLUCAGONOMA Is also known as glucagonoma syndrome

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Depressivity
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET MESH MENDELIAN

More info about GLUCAGONOMA

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Medium match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Medium match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Medium match METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1


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 HEREDITARY FOLATE MALABSORPTION


Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Top 5 symptoms//phenotypes associated to Anemia and Anorexia

Symptoms // Phenotype % cases
Nausea and vomiting Common - Between 50% and 80% cases
Weight loss Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Intellectual disability Global developmental delay Fatigue Vomiting Glossitis Failure to thrive Immunodeficiency Muscular hypotonia Lethargy Splenomegaly Muscle weakness Behavioral abnormality Hypertension

Rare Symptoms - Less than 30% cases


Dystonia Paresthesia Pneumonia Hepatosplenomegaly Hypoalbuminemia Abnormality of abdomen morphology Pain Hypertensive crisis Malabsorption Feeding difficulties Respiratory distress Renal insufficiency Generalized hypotonia Thrombocytopenia Myalgia Abnormality of movement Coma Dehydration Megaloblastic anemia Depressivity Constipation Fever Thromboembolism Arthralgia Hyperhidrosis Ataxia Pallor Neutropenia Lymphadenopathy Paraganglioma Pulmonary infiltrates Poor appetite Lack of bowel sounds Tachycardia Episodic abdominal pain Gastrointestinal hemorrhage Arrhythmia Ascites Adrenocortical adenoma Hypoplastic toenails Clubbing Cachexia Hypokalemia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Aplasia/Hypoplasia of the eyebrow Hypertonia Colon cancer Sparse body hair Oral ulcer Generalized hyperpigmentation Normocytic anemia Xerostomia Abnormality of the vasculature Cheilitis Hypomagnesemia Hematochezia Dystrophic toenail Clubbing of fingers Lymphedema Nail dystrophy Nail dysplasia Psychotic episodes Apathy Agitation Insomnia Hepatocellular carcinoma Dysuria Ileus Urinary retention Diaphragmatic paralysis Folate deficiency Abnormal urinary color Delirium Respiratory paralysis Tapered finger Paralytic ileus Elevated urinary delta-aminolevulinic acid Red urine Acute episodes of neuropathic symptoms Neoplasm Cataract Macrocephaly Edema Alopecia Autoimmunity Dystrophic fingernails Abnormality of skin pigmentation Furrowed tongue Protein-losing enteropathy Intestinal polyposis Decreased methionine synthase activity Homocystinuria Enterocolitis Pancytopenia Cerebral calcification Focal-onset seizure Decreased antibody level in blood Sepsis Dyskinesia Methylmalonic acidemia Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased adenosylcobalamin Spastic ataxia Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Motor delay Peripheral neuropathy Respiratory tract infection Hyperreflexia Skeletal muscle atrophy Tremor Irritability Feeding difficulties in infancy Gastroesophageal reflux Recurrent respiratory infections Recurrent urinary tract infections Chronic diarrhea Recurrent infections Cerebral cortical atrophy Stomach cancer Hamartomatous polyposis Peripheral edema Patchy alopecia Gastrointestinal carcinoma Decreased taste sensation Proximal amyotrophy Drowsiness Macrocytic anemia Nystagmus Gait disturbance Cerebellar atrophy Acidosis Aspiration Abnormality of the nervous system Basal ganglia calcification Aciduria Abnormality of the immune system Athetosis Intracranial hemorrhage Recurrent upper respiratory tract infections Increased mean corpuscular volume Eosinophilia Cranial nerve paralysis Leukopenia Methylmalonic aciduria Increased body weight Hyponatremia Inflammatory abnormality of the eye Hyperlipidemia Abnormal bronchus physiology Leukocytosis Elevated erythrocyte sedimentation rate Thrombocytosis Night sweats Histiocytosis Chronic infection Increased IgM level Increased IgG level Hypoplasia of the femoral head Rheumatoid factor positive Salmonella osteomyelitis Enlarged mesenteric lymph node Dysarthria Atypical pulmonary carcinoid tumor Optic atrophy Cardiomyopathy Stroke Choreoathetosis Pancreatitis Hyperammonemia Diabetes mellitus Skin rash Pruritus Abnormal blistering of the skin Hypercalcemia Intestinal obstruction Dermatological manifestations of systemic disorders Abnormal pulmonary valve cusp morphology Abnormality of the thyroid gland Carcinoid tumor Headache Pheochromocytoma Mediastinal lymphadenopathy Leiomyosarcoma Gastrointestinal stroma tumor Adrenal overactivity Elevated hepatic transaminase Hepatic failure Hypotension Palpitations Tricuspid regurgitation Iron deficiency anemia Right ventricular failure Bowel urgency Chronic noninfectious lymphadenopathy Increased circulating ACTH level Increased serum serotonin Hematemesis Intermittent diarrhea Melena Protracted diarrhea Bloody diarrhea Facial telangiectasia Cardiogenic shock Bronchospasm Zollinger-Ellison syndrome Steatorrhea Increased circulating gonadotropin level Paraparesis Arteritis Abnormal heart valve morphology Hemoptysis Gangrene Cerebral ischemia Reduced consciousness/confusion Abnormal aortic valve morphology Abnormal pattern of respiration Arterial stenosis Ascending tubular aorta aneurysm Abnormal endocardium morphology Amaurosis fugax Gastrointestinal infarctions Increased inflammatory response Aortic regurgitation Intellectual disability, mild Carcinoma Anxiety Paralysis Stage 5 chronic kidney disease Nausea Nephropathy Abdominal distention Urinary incontinence Psychosis Cutaneous photosensitivity Hallucinations Psoriasiform dermatitis Vasculitis Growth hormone excess Extrahepatic cholestasis Increased circulating cortisol level Prolactin excess Neoplasm of the pancreas Intrahepatic cholestasis Pituitary adenoma Chronic fatigue Acanthocytosis Primary hyperparathyroidism Parathyroid adenoma Stomatitis Intermittent jaundice Normochromic anemia Subcutaneous lipoma Skin ulcer Necrolytic migratory erythema Abnormal gastrointestinal motility Dilatation Arthritis Hypertrophic cardiomyopathy Retinopathy Neurological speech impairment Chest pain Migraine Pulmonary arterial hypertension Myocardial infarction Subcutaneous nodule Folate-responsive megaloblastic anemia



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