Anemia, and Gastroesophageal reflux

Diseases related with Anemia and Gastroesophageal reflux

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


Top matches:

Medium match LYMPHEDEMA, HEREDITARY, III; LMPH3


Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Medium match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Medium match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

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Other less relevant matches:

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, 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 ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

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

Medium match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Gastroesophageal reflux

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Neutropenia Intellectual disability Ataxia Leukopenia Cryptorchidism Generalized hypotonia Hearing impairment Chronic diarrhea Hypoglycemia Failure to thrive Recurrent infections Scoliosis Vomiting Recurrent urinary tract infections Atrial septal defect Malabsorption Nausea and vomiting Ascites Cirrhosis Hypertension Pancytopenia

Rare Symptoms - Less than 30% cases


Microcephaly Talipes equinovarus Myelodysplasia High palate Optic atrophy Tachypnea Abnormality of eye movement Elevated hepatic transaminase Cerebral atrophy Intrauterine growth retardation Feeding difficulties Growth delay Inguinal hernia Muscular hypotonia Hypertelorism Sepsis Paresthesia Polyneuropathy Lymphopenia Hypergonadotropic hypogonadism Brachydactyly Dysarthria Polycystic ovaries Megaloblastic anemia Macrocytic anemia Anorexia Abnormality of movement Lethargy Pallor Respiratory tract infection Feeding difficulties in infancy Recurrent respiratory infections Immunodeficiency Behavioral abnormality Skeletal muscle atrophy Peripheral neuropathy Motor delay Aciduria Portal hypertension Constipation Erythema Pain Weight loss Hemolytic anemia Abdominal pain Nausea Splenomegaly Arrhythmia Edema Epicanthus Headache Micrognathia Asthma Encephalitis Abnormality of the gastrointestinal tract Increased CSF protein Abnormality of the vasculature Joint stiffness Abnormality of the kidney Telecanthus Self-injurious behavior Slender build Decreased number of large peripheral myelinated nerve fibers Dysphasia Progressive external ophthalmoplegia Mitochondrial myopathy Poor appetite Tented upper lip vermilion Spastic paraplegia Skeletal myopathy Abnormality of the face Aganglionic megacolon Flat face Depressed nasal ridge Abnormality of the mitochondrion Axonal degeneration Absent Achilles reflex Thick lower lip vermilion Hypoplasia of penis Demyelinating peripheral neuropathy Ambiguous genitalia Everted lower lip vermilion Macroglossia Gastrointestinal dysmotility Scleroderma Aspiration pneumonia Difficulty climbing stairs Peripheral axonal neuropathy Leukodystrophy Peripheral demyelination Abdominal distention Abnormality of fontanelles Distal sensory impairment Distal amyotrophy Lactic acidosis Limb muscle weakness Foot dorsiflexor weakness Ophthalmoplegia Abnormality of the cerebral white matter Muscular dystrophy Distal muscle weakness Proximal muscle weakness Acidosis Dementia Sensorimotor neuropathy Hypogonadotrophic hypogonadism Decreased muscle mass Bilateral ptosis Male pseudohermaphroditism Malnutrition Hyperalaninemia Decreased motor nerve conduction velocity Volvulus Ophthalmoparesis Abnormality of mitochondrial metabolism Abnormality of the hand External ophthalmoplegia Cachexia Profound global developmental delay Abnormal hemoglobin Easy fatigability U-Shaped upper lip vermilion Ragged-red muscle fibers Leukoencephalopathy Intestinal pseudo-obstruction Decreased sensory nerve conduction velocity Intermittent diarrhea Hyperglycemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Secondary amenorrhea Microphallus Achalasia Cone/cone-rod dystrophy Aminoaciduria Esophageal stricture Radial club hand Hypoplastic spleen Flexion contracture Myopia Thiamine-responsive megaloblastic anemia Hydrocephalus Anteverted nares Intracranial hemorrhage Shawl scrotum Petechiae Hyperkalemia Adrenal insufficiency Overlapping fingers Rocker bottom foot Hyponatremia Abnormal intestine morphology Hypospadias Recurrent bacterial infections Meningitis Hyperpigmentation of the skin Decreased body weight Decreased testicular size Paraplegia Patent ductus arteriosus Hoarse voice Blindness Gastroparesis Hydronephrosis Abnormality of the extraocular muscles Abnormal cell morphology Agenesis of corpus callosum Cerebral cortical atrophy Atrophic muscularis propria Autism Hypointensity of cerebral white matter on MRI Nystagmus Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Diffuse leukoencephalopathy Adrenal hypoplasia Macrovesicular hepatic steatosis Cytochrome C oxidase-negative muscle fibers Small intestinal dysmotility Ventricular septal defect Cardiac arrest Retinal dystrophy Abnormality of the dentition Situs inversus totalis Midface retrusion Areflexia Depressivity Amenorrhea Abnormality of the skin Retinal degeneration Cardiomyopathy Stroke Abnormal cardiac septum morphology Diabetes mellitus Abnormal heart morphology Visual loss Congestive heart failure Clinodactyly of the 5th finger Bilateral sensorineural hearing impairment Normocytic anemia Myopathy Sarcoma Allergy Flushing Acute leukemia Abnormality of blood and blood-forming tissues Hypermelanotic macule Loss of consciousness Urticaria Shock Myeloproliferative disorder Osteolysis Bone marrow hypocellularity Bone pain Telangiectasia Abnormal blistering of the skin Hypotension Gastrointestinal hemorrhage Generalized osteosclerosis Hypersplenism Recurrent fractures Cutaneous mastocytosis Deeply set eye Osteopenia Hernia Respiratory insufficiency Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Dermatographic urticaria Gastrointestinal stroma tumor Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Immunologic hypersensitivity Sudden cardiac death Tachycardia Abnormality of the eye Pericardial effusion Spherocytosis Generalized edema Nonimmune hydrops fetalis Varicose veins Hydrocele testis Deep venous thrombosis Cellulitis Cupped ear Chylothorax Hydrops fetalis Lymphedema Webbed neck Polyhydramnios Hypothyroidism Pectus excavatum Fever Periorbital edema Stomatocytosis Ichthyosis Arthralgia Lymphadenopathy Pruritus Papule Leukemia Skin rash Myalgia Hepatosplenomegaly Osteoporosis Intestinal lymphangiectasia Fatigue Hepatomegaly Neoplasm Genital edema Pulmonary lymphangiectasia Prune belly Facial edema Joint laxity Abnormality of the liver Dysphagia Glossitis Conductive hearing impairment Myoclonus Hyporeflexia Abnormality of the skeletal system Cognitive impairment Abnormal facial shape Folate-responsive megaloblastic anemia Folate deficiency Sensory impairment Oral ulcer Cheilitis Proximal amyotrophy Drowsiness Basal ganglia calcification Abnormality of the immune system Athetosis Abnormality of the nervous system Lymphoma Eosinophilia Severe combined immunodeficiency Ptosis Muscle weakness Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Atopic dermatitis Eczema Combined immunodeficiency Glomerulonephritis Recurrent skin infections Narrow palpebral fissure Vasculitis Bronchiectasis Inflammatory abnormality of the skin Recurrent upper respiratory tract infections Increased body weight Cough Interstitial pulmonary abnormality Wide intermamillary distance Respiratory distress Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Bile duct proliferation Rickets Pulmonary arterial hypertension Hypoalbuminemia Hypocalcemia Decreased liver function Abnormal lung morphology Cholestasis Oligohydramnios Hepatic steatosis Coarctation of aorta Bell-shaped thorax Aspiration Tremor Cerebral calcification Focal-onset seizure Decreased antibody level in blood Dyskinesia Irritability Pneumonia Hypertonia Hyperreflexia Methylmalonic aciduria Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Horizontal ribs Abnormal posturing Homocystinuria Abnormality of the male genitalia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Primary amenorrhea, related diseases and genetic alterations Hydrocephalus and Intrauterine growth retardation, related diseases and genetic alterations Peripheral neuropathy and Spastic paraplegia, related diseases and genetic alterations Scoliosis and Talipes equinovarus, related diseases and genetic alterations Lymphoma and Kyphosis, related diseases and genetic alterations Microphthalmia and Increased serum lactate, related diseases and genetic alterations

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