Anemia, and Cough

Diseases related with Anemia and Cough

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


Top matches:

Low match PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1


Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., {127750}), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis. Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined by telomere length, not just telomerase mutation (summary by Armanios, 2009).The genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has implications for treatment because affected individuals generally do not respond to immunosuppression and may be at increased risk for fatal complications after bone marrow or lung transplantation (Parry et al., 2011). Genetic Heterogeneity of Telomere-Related Pulmonary Fibrosis and/or Bone Marrow FailureAlso see PFBMFT2 (OMIM ), caused by mutation in the TERC gene (OMIM ) on chromosome 3q26; PFBMFT3 (OMIM ), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13; and PFBMFT4 (OMIM ), caused by mutation in the PARN gene (OMIM ) on chromosome 16p13.

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Pneumonia
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

Low match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Low match PLEURAL MESOTHELIOMA


Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

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Other less relevant matches:

Low match OVERHYDRATED HEREDITARY STOMATOCYTOSIS


Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Low match MAJEED SYNDROME


Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low 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

Low match STEVENS-JOHNSON SYNDROME


Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STEVENS-JOHNSON SYNDROME

Low match SICKLE CELL ANEMIA


Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

Top 5 symptoms//phenotypes associated to Anemia and Cough

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Pain Respiratory distress Weight loss Abnormal lung morphology Hypertension Neoplasm Fatigue Dysphagia Cirrhosis Chest pain Seizures Cholestasis Hepatic steatosis Splenomegaly Jaundice Elevated hepatic transaminase Vomiting Rigidity Interstitial pulmonary abnormality Generalized hypotonia

Rare Symptoms - Less than 30% cases


Nephropathy Abnormality of the pleura Tachypnea Bone pain Sepsis Hypoalbuminemia Portal hypertension Night sweats Headache Hemolytic anemia Hernia Recurrent infections Edema Leukocytosis Reticulocytosis Ascites Gastrointestinal hemorrhage Stroke Renal insufficiency Abnormality of eye movement Bone marrow hypocellularity Abnormality of the liver Lactic acidosis Hepatic failure Respiratory insufficiency Decreased liver function Pulmonary fibrosis Myeloid leukemia Irritability Clubbing Pancytopenia Leukemia Pneumonia Thrombocytopenia Hypoglycemia Deeply set eye Abnormality of the eye Progressive neurologic deterioration Osteopenia Gastroesophageal reflux Inguinal hernia Joint laxity Broad-based gait Type II diabetes mellitus Oligohydramnios Hypocalcemia Cerebral atrophy Generalized-onset seizure Rickets Bile duct proliferation Bradykinesia Vitamin D deficiency Anasarca Vitamin A deficiency Small scrotum Clumsiness Rheumatoid arthritis Intrauterine growth retardation Chronic bronchitis Incoordination Personality changes Obsessive-compulsive behavior Akinesia Hypokinesia Muscle fibrillation Hyperkinesis Schizophrenia Cerebellar vermis atrophy Restlessness Upper limb undergrowth Head tremor Dilated fourth ventricle Feeding difficulties Testicular atrophy Paranoia Mania Abnormal involuntary eye movements Involuntary movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Oral motor hypotonia Global developmental delay Growth delay Slurred speech High palate Bronchitis Abnormal myocardium morphology Visual impairment Increased mean corpuscular volume Recurrent bacterial infections Cerebral palsy Cholelithiasis Osteomyelitis Microcytic anemia Wheezing Iron deficiency anemia Poor appetite Aseptic necrosis Thrombocytosis Abnormality of the vasculature Elevated serum creatinine Asplenia Atelectasis Hypoxemia Hematuria Left ventricular failure Abnormality of the spleen Abnormal hemoglobin Microalbuminuria Chronic myelogenous leukemia Hypochromic anemia Chronic hemolytic anemia Unconjugated hyperbilirubinemia Pure red cell aplasia Persistence of hemoglobin F Abnormal lactate dehydrogenase activity Increased lactate dehydrogenase activity Priapism Pigment gallstones Cardiomegaly Confusion Recurrent respiratory infections Corneal erosion Photophobia Erythema Skin rash Nausea and vomiting Sudden cardiac death Abnormal blistering of the skin Hepatitis Myocardial infarction Conjunctivitis Pancreatitis Eosinophilia Nephritis Restrictive ventilatory defect Macule Acute hepatic failure Retinopathy Dysuria Brain atrophy Entropion Excessive salivation Esophageal stricture Acantholysis Abnormality of neutrophils Abnormality of the urethra Hypokalemic metabolic alkalosis Dyspareunia Intellectual disability Osteoporosis Respiratory failure Abnormality of the nervous system Neuronal loss in central nervous system Hyperreflexia Chorea Increased red cell osmotic fragility Hydrops fetalis Hyperbilirubinemia Brittle hair Abnormality of mitochondrial metabolism Increased antibody level in blood Anisocytosis Spherocytosis Poikilocytosis Stomatocytosis Intermittent jaundice Sideroblastic anemia Congenital hemolytic anemia Increased intracellular sodium Pallor Flexion contracture Arthralgia Myalgia Proteinuria Papule Malabsorption Inflammatory abnormality of the skin Increased bone mineral density Cachexia Increased susceptibility to fractures Metaphyseal irregularity Acne Glomerulopathy Dehydration Respiratory tract infection Pulmonary infiltrates Nausea Hepatic fibrosis Myelodysplasia Premature graying of hair Acute myeloid leukemia Aplastic anemia Acute monocytic leukemia Motor delay Hypothyroidism Acidosis Aminoaciduria Severe failure to thrive Alveolar proteinosis Lymphadenopathy Hypotension Hepatosplenomegaly Pleural effusion Abnormality of the thorax Oral-pharyngeal dysphagia Intestinal obstruction Abnormality of cardiovascular system physiology Functional respiratory abnormality Fourth cranial nerve palsy Constitutional symptom Malignant mesothelioma Obstruction of the superior vena cava Pleural mesothelioma Peritoneal mesothelioma Pericardial mesothelioma Pustule Microscopic hematuria Gliosis Myoclonus Hepatic vascular malformations Ataxia Cognitive impairment Delayed speech and language development Dysarthria Tremor Gait disturbance Ventriculomegaly Cerebellar atrophy Behavioral abnormality Dystonia Depressivity Dementia Diabetes mellitus Duodenal adenocarcinoma Hyperactivity Gait ataxia Arthritis Anxiety Aggressive behavior Mental deterioration Abnormality of the cerebral white matter Infertility Abnormality of movement Falls Neurodegeneration Abnormal cerebellum morphology Progressive cerebellar ataxia Adenocarcinoma of the colon Multiple gastric polyps Hypochromic microcytic anemia Telangiectasia Synovitis Congenital hypoplastic anemia Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Cryptorchidism Macrocephaly Congestive heart failure Umbilical hernia Carcinoma Vertigo Cyanosis Epistaxis Diplopia Intussusception Hypokalemia Colon cancer Hamartoma Polycythemia Hemoptysis Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Hematemesis Melena Increased red cell sickling tendency



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