Anemia, and Paresthesia

Diseases related with Anemia and Paresthesia

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


Top matches:

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 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 PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

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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 PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

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

Low match MULTIPLE MYELOMA


Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

Low 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

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Top 5 symptoms//phenotypes associated to Anemia and Paresthesia

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Polyneuropathy Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tachycardia Abdominal pain Vomiting Hypertension Diarrhea Hepatomegaly Malabsorption Neoplasm Jaundice Intellectual disability Fatigue Depressivity Respiratory paralysis Hyponatremia Psychosis Splenomegaly Paralysis Weight loss Cutaneous photosensitivity Constipation Confusion Peripheral neuropathy Arthralgia Behavioral abnormality

Rare Symptoms - Less than 30% cases


Global developmental delay Insomnia Myalgia Hallucinations Anxiety Anorexia Hepatosplenomegaly Nausea and vomiting Abnormality of metabolism/homeostasis Irritability Macrocytic anemia Nausea Arrhythmia Abnormal blistering of the skin Nephropathy Intellectual disability, mild Ileus Red urine Failure to thrive Falls Generalized hypotonia Delirium Abdominal colic Elevated urinary delta-aminolevulinic acid Edema Colon cancer Malabsorption of Vitamin B12 Megaloblastic anemia Abnormality of the liver Sensory impairment Autoimmunity Pruritus Proteinuria Acute episodes of neuropathic symptoms Amyloidosis Cataract Abnormality of blood and blood-forming tissues Acute kidney injury Paraproteinemia Spinal cord compression Plasmacytoma Hyperproteinemia Neoplasm of the pancreas Elevated serum creatinine Abnormality of vitamin B12 metabolism Vertebral compression fractures Multiple myeloma Prostate cancer Increased IgA level Functional abnormality of the gastrointestinal tract Abnormality of the bladder Increased IgG level Monoclonal immunoglobulin M proteinemia Compensated hemolytic anemia Pathologic fracture Congenital hemolytic anemia Thin skin Hypermelanotic macule Orthostatic hypotension Prolonged neonatal jaundice Fragile skin Visual hallucinations Auditory hallucinations Paranoia Alopecia Increased antibody level in blood Osteopenia Lymphadenopathy Generalized muscle weakness Decreased antibody level in blood Nephrotic syndrome Tall stature Bone pain Hypercalcemia Pleural effusion Macrocephaly Hematochezia Nail dystrophy Ragged-red muscle fibers Decreased taste sensation Gait disturbance Babinski sign Pes cavus Diabetes mellitus Hypothyroidism Joint stiffness Muscle cramps Abnormality of the skin Myocardial infarction Insulin resistance Hoarse voice Reduced tendon reflexes Abnormality of mitochondrial metabolism Glossitis Oral-pharyngeal dysphagia Coronary artery atherosclerosis Axonal degeneration Multiple lipomas Arthropathy Lipoma Oligomenorrhea Gout Hyperlipoproteinemia Alcoholism Decreased LDL cholesterol concentration Neuropathic arthropathy Increased HDL cholesterol concentration Gastrointestinal carcinoma Patchy alopecia Abnormality of skin pigmentation Sparse body hair Tapered finger Nail dysplasia Lymphedema Hyperpigmentation of the skin Hypocalcemia Abnormality of the fingernails Abnormal intestine morphology Cachexia Hypokalemia Hypoalbuminemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Generalized hyperpigmentation Peripheral edema Thromboembolism Xerostomia Abnormality of the vasculature Hypomagnesemia Hypotension Dystrophic toenail Clubbing of fingers Furrowed tongue Dystrophic fingernails Intestinal polyposis Protein-losing enteropathy Stomach cancer Hamartomatous polyposis Hypertrichosis Stage 5 chronic kidney disease Metabolic acidosis Dystonia Absence of intrinsic factor Megaloblastic erythroid hyperplasia Microcephaly Ataxia Nystagmus Spasticity Cognitive impairment Hyperreflexia Dysarthria Tremor Cerebral atrophy Increased mean corpuscular volume Myoclonus Gait ataxia EEG abnormality Aggressive behavior Intellectual disability, moderate Mental deterioration Generalized tonic-clonic seizures Abnormality of movement Dysmetria Dyskinesia Chorea Abnormality of the stomach Abnormality of the immune system Focal-onset seizure Scarring Thyroiditis Poikiloderma Vitamin B12 deficiency Muscular hypotonia Respiratory insufficiency Sensory neuropathy Hemiparesis Motor axonal neuropathy Wrist drop Thrombocytopenia Erythema Hepatic failure Leukopenia Eczema Tetraparesis Hypertriglyceridemia Inflammatory abnormality of the skin Cholestasis Decreased liver function Cholelithiasis Microcytic anemia Acute hepatic failure Cholecystitis Pancytopenia Migraine Specific learning disability Elevated hepatic transaminase Cranial nerve paralysis Generalized tonic-clonic seizures without focal onset Renal insufficiency Hyperhidrosis Carcinoma Lethargy Dementia Coma Abdominal distention Urinary incontinence Paraparesis Hyperlipidemia Apathy Upper limb dysmetria Agitation Hepatocellular carcinoma Dysuria Urinary retention Diaphragmatic paralysis Abnormal urinary color Psychotic episodes Hypertensive crisis Paralytic ileus Areflexia Acidosis Hypoglycorrhachia Focal aware seizure Generalized-onset seizure Impulsivity Choreoathetosis Involuntary movements Frequent falls Lower limb spasticity Limb ataxia Progressive microcephaly Horizontal nystagmus Absence seizures Slurred speech Hemiplegia Focal impaired awareness seizure Atonic seizures Jerky head movements Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Episodic ataxia Torsion dystonia Abnormality of the head Migraine without aura Limb dysmetria Paroxysmal dyskinesia Paroxysmal dystonia Abnormal adipose tissue morphology



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