Anemia, and Confusion

Diseases related with Anemia and Confusion

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


Top matches:

Low match JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1


The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 Is also known as prolonged qt interval in ekg and sudden death|deafness, congenital, and functional heart disease|surdo-cardiac syndrome|cardioauditory syndrome of jervell and lange-nielsen

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Low match FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1


Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic SyndromeFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (OMIM ), caused by mutation in the TRPC6 gene (OMIM ); FSGS3 (OMIM ), associated with variation in the CD2AP gene (OMIM ); FSGS4 (OMIM ), mapped to chromosome 22q12; FSGS5 (OMIM ), caused by mutation in the INF2 gene (OMIM ); FSGS6 (OMIM ), caused by mutation in the MYO1E gene (OMIM ); FSGS7 (OMIM ), caused by mutation in the PAX2 gene (OMIM ); FSGS8 (OMIM ), caused by mutation in the ANLN gene (OMIM ); and FSGS9 (OMIM ), caused by mutation in the CRB2 gene (OMIM ).See also NPHS1 (OMIM ), caused by mutation in the NPHS1 gene (OMIM ); NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); and NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Is also known as glomerulosclerosis, focal segmental, 1

Related symptoms:

  • Hearing impairment
  • Pain
  • Anemia
  • Hypertension
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

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Other less relevant matches:

Low match CONGENITAL INTRINSIC FACTOR DEFICIENCY


Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

CONGENITAL INTRINSIC FACTOR DEFICIENCY Is also known as intrinsic factor deficiency|ifd|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|pernicious anemia, congenital, due to defect of intrinsic factor

Related symptoms:

  • Intellectual disability
  • Failure to thrive
  • Anemia
  • Fatigue
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRINSIC FACTOR DEFICIENCY

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match LEUKEMIA, ACUTE MYELOID; AML


LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Low 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

Low match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Top 5 symptoms//phenotypes associated to Anemia and Confusion

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nausea and vomiting Depressivity Nausea Paresthesia Paralysis Coma Arrhythmia Jaundice Behavioral abnormality Tachycardia Renal insufficiency Hyponatremia Vomiting Hepatosplenomegaly Abdominal pain Diarrhea Fever Respiratory distress Headache

Rare Symptoms - Less than 30% cases


Psychosis Microscopic hematuria Hearing impairment Delirium Hallucinations Intellectual disability Hypotension Abnormality of metabolism/homeostasis Cutaneous photosensitivity Cranial nerve paralysis Pancytopenia Leukopenia Hemolytic anemia Insomnia Ileus Respiratory paralysis Red urine Pallor Tremor Muscle weakness Dementia Thrombocytopenia Constipation Malabsorption Prolonged neonatal jaundice Sensory impairment Megaloblastic anemia Arthralgia Myalgia Weight loss Anxiety Stage 5 chronic kidney disease Hematuria Malabsorption of Vitamin B12 Acute episodes of neuropathic symptoms Hyperlipidemia Reticulocytosis Elevated serum creatinine Purpura Hyperkalemia Autoimmune thrombocytopenia Acute kidney injury Glomerulonephritis Personality changes Hyperbilirubinemia Orthostatic hypotension Hemiparesis Blepharospasm Abnormality of extrapyramidal motor function Involuntary movements Type I diabetes mellitus Torticollis Cerebral palsy Hyperkinesis Slurred speech Polyuria Muscle fibrillation Increased serum ferritin Cogwheel rigidity Increased serum lactate Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Abnormal renal physiology Abnormality of the kidney Skin rash Abnormal bleeding Preeclampsia Urinary incontinence Hemolytic-uremic syndrome Acidosis Psychotic episodes Hypertensive crisis Paralytic ileus Elevated urinary delta-aminolevulinic acid Peripheral neuropathy Hepatomegaly Paranoia Splenomegaly Areflexia Auditory hallucinations Congenital hemolytic anemia Elevated hepatic transaminase Visual hallucinations Fragile skin Irritability Pruritus Metabolic acidosis Abnormal blistering of the skin Hypertrichosis Thin skin Abnormal urinary color Diaphragmatic paralysis Neonatal hyperbilirubinemia Nephropathy Bloody diarrhea Increased blood urea nitrogen Microangiopathic hemolytic anemia Schistocytosis Global developmental delay Intellectual disability, mild Hyperhidrosis Carcinoma Lethargy Abdominal distention Urinary retention Hypermelanotic macule Anorexia Chorea Compensated hemolytic anemia Paraparesis Apathy Agitation Hepatocellular carcinoma Dysuria Memory impairment Chronic pain Parkinsonism Reduced visual acuity Microalbuminuria Congenital nephrotic syndrome Failure to thrive Abnormality of the immune system Macrocytic anemia Increased mean corpuscular volume Abnormality of the stomach Absence of intrinsic factor Megaloblastic erythroid hyperplasia Ptosis Photophobia Focal segmental glomerulosclerosis Hypoglycemia Growth hormone deficiency Diplopia Hypergonadotropic hypogonadism Impotence Blurred vision Hypopituitarism Growth hormone excess Increased circulating cortisol level Oligomenorrhea Ocular pain Glomerulosclerosis Pituitary adenoma Loss of consciousness Sensorineural hearing impairment Generalized tonic-clonic seizures Sudden cardiac death Chest pain Syncope Cardiac arrest Ventricular tachycardia Ventricular arrhythmia Congenital sensorineural hearing impairment Ventricular fibrillation Prolonged QT interval Hypoalbuminemia Subarachnoid hemorrhage Torsade de pointes Autoimmunity Thyroiditis Poikiloderma Vitamin B12 deficiency Edema Ascites Nephrotic syndrome Chronic kidney disease Prolactin excess Excessive daytime somnolence Neurodegeneration Dysarthria Neuroblastoma Gingival bleeding Ecchymosis Acute monocytic leukemia Night sweats Acute promyelocytic leukemia Ataxia Spasticity Cognitive impairment Delayed speech and language development Congestive heart failure Myeloid leukemia Hypertonia Dystonia Diabetes mellitus Gait ataxia Hypothyroidism Difficulty walking Rigidity Poor speech Retinal degeneration Cirrhosis Acute myeloid leukemia Petechiae Pituitary hypothyroidism Thunderclap headache Adrenocorticotropic hormone deficiency Central diabetes insipidus Normochromic anemia Galactorrhea Abnormality of the cerebrospinal fluid Mydriasis Prolactin deficiency Trigeminal neuralgia Bitemporal hemianopia Abnormal kinetic perimetry test Abnormal caudate nucleus morphology Menorrhagia Abnormal static automated perimetry test Neoplasm Recurrent infections Respiratory failure Dyspnea Scarring Leukemia Lymphadenopathy Bruising susceptibility Sarcoma Myelodysplasia Abdominal colic



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