Anemia, and Sensory neuropathy

Diseases related with Anemia and Sensory neuropathy

In the following list you will find some of the most common rare diseases related to Anemia and Sensory neuropathy 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 BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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

Top 5 symptoms//phenotypes associated to Anemia and Sensory neuropathy

Symptoms // Phenotype % cases
Paresthesia Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Vomiting Muscle weakness Paralysis Hyponatremia Psychosis Polyneuropathy Intellectual disability Tachycardia Respiratory paralysis Constipation Behavioral abnormality Fatigue Malabsorption Neoplasm Depressivity Hypertension Confusion Weight loss Splenomegaly Cutaneous photosensitivity Jaundice

Rare Symptoms - Less than 30% cases


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Joint laxity, related diseases and genetic alterations Feeding difficulties and Craniosynostosis, related diseases and genetic alterations Visual impairment and Upslanted palpebral fissure, related diseases and genetic alterations Spasticity and Mitral valve prolapse, related diseases and genetic alterations Abnormal facial shape and Abnormal blistering of the skin, related diseases and genetic alterations

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