Anemia, and Difficulty walking

Diseases related with Anemia and Difficulty walking

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


Top matches:

Medium 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

Medium match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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Other less relevant matches:

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. 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 ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Low match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Difficulty walking

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Splenomegaly Failure to thrive Global developmental delay Rigidity Gait disturbance Dysarthria Fatigue Depressivity Abnormality of extrapyramidal motor function Scoliosis Congestive heart failure Dementia Microcephaly Leukopenia Pancytopenia Spasticity Slurred speech Abnormality of movement Hepatosplenomegaly Mental deterioration Neoplasm Thrombocytopenia Neurodegeneration Cirrhosis Confusion Nystagmus Hypertonia Peripheral neuropathy Strabismus Polyneuropathy Skeletal muscle atrophy Abnormality of the liver Cognitive impairment Flexion contracture Edema Hepatocellular carcinoma Kyphosis Proteinuria Recurrent respiratory infections Paresthesia Generalized hypotonia Encephalopathy Jaundice Growth delay Pneumonia Involuntary movements Elevated hepatic transaminase Delayed puberty Chorea Myoclonus Parkinsonism Poor speech Hepatic steatosis Muscle weakness Bone pain Gait ataxia Hearing impairment

Rare Symptoms - Less than 30% cases


Falls Bruising susceptibility Abnormality of the eye Lymphadenopathy Hypertrophic cardiomyopathy Feeding difficulties in infancy Portal hypertension Leukemia Peripheral axonal neuropathy Anxiety Paralysis Neurological speech impairment Reduced visual acuity Neutropenia Cyanosis Recurrent infections Immunodeficiency Anorexia Generalized myoclonic seizures Intellectual disability, severe Increased bone mineral density Sensory neuropathy Gastrointestinal hemorrhage Abnormal bleeding Astrocytosis Abnormality of eye movement Generalized tonic-clonic seizures Unsteady gait Abnormal facial shape Progressive cerebellar ataxia Hepatitis Headache Apraxia Spinocerebellar tract degeneration Intention tremor Choreoathetosis Pulmonary arterial hypertension Hypopigmentation of hair Lymphoma Resting tremor Lymphopenia Truncal ataxia Hematuria Oculomotor apraxia Short stature Lower limb muscle weakness Malabsorption Lethargy Epistaxis Abnormality of the nervous system Bradykinesia Muscle stiffness Cerebellar atrophy Visual impairment Pain Dysphagia Vomiting Limitation of joint mobility Osteoporosis Respiratory tract infection Weight loss Arthritis Aggressive behavior Respiratory insufficiency Fever Low-set ears Joint hypermobility Back pain Hemolytic anemia Ascites Psychosis Progressive neurologic deterioration Hyperkinesis Cerebral palsy Memory impairment Retinal degeneration Diabetes mellitus Behavioral abnormality Decreased liver function Delayed speech and language development Abnormal vertebral morphology Glaucoma Hypertension Hydrocephalus Esophageal varix High nonceruloplasmin-bound serum copper Myelopathy Homocystinuria Leukoencephalopathy Atypical or prolonged hepatitis Kayser-Fleischer ring Drooling Methylmalonic aciduria Mixed demyelinating and axonal polyneuropathy Retinopathy Gastritis Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Cerebral cortical atrophy Schizophrenia Acute hepatitis Abnormality of the hand Hypersexuality Nephrocalcinosis Hemolytic-uremic syndrome Right ventricular failure Delirium Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Abnormality of macular pigmentation Hypercalciuria Chronic hemolytic anemia Feeding difficulties Cataract Aminoaciduria Methylmalonic acidemia Muscular hypotonia Renal insufficiency Atrophy of the spinal cord Apathy Abnormality of mitochondrial metabolism Acute hepatic failure Abnormality of skin pigmentation Glycosuria Hyperphosphaturia Metabolic acidosis Macrotia Osteomalacia Nephropathy Long face Arthropathy Smooth philtrum Neoplasm of the liver Abnormality of blood and blood-forming tissues Chondrocalcinosis Congenital cataract Joint swelling Hypoparathyroidism Hand tremor Increased reactive oxygen species production Hip dislocation Renal tubular dysfunction Urinary incontinence Aciduria Personality changes Global brain atrophy Acidosis Ectopia lentis Poor motor coordination High forehead Oral-pharyngeal dysphagia Hemiplegia Hypocupremia Atherosclerosis Abnormality of retinal pigmentation Pigmentary retinopathy Premature osteoarthritis Abnormality of the menstrual cycle Recurrent urinary tract infections Diffuse hepatic steatosis Pathologic fracture Retinoblastoma Broad-based gait Proximal muscle weakness in lower limbs Menstrual irregularities Decreased methylmalonyl-CoA mutase activity Abnormal heart valve morphology Cystathioninemia Drowsiness Postural instability Dysmetria Cardiomyopathy Paroxysmal lethargy Paroxysmal involuntary eye movements Hypoglycorrhachia Generalized hyperreflexia Extrapyramidal dyskinesia Abnormal erythrocyte morphology Atypical absence seizures Paroxysmal dystonia Paroxysmal dyskinesia Central apnea Atonic seizures Neuronal loss in central nervous system Language impairment Focal impaired awareness seizure Incoordination Sleep apnea Absence seizures Progressive microcephaly Postnatal microcephaly Hemiparesis Status epilepticus Specific learning disability Epileptic encephalopathy Focal-onset seizure Sleep disturbance Dyskinesia Gliosis Sensorimotor neuropathy Intellectual disability, moderate Poor fine motor coordination Abnormal transferrin saturation Copper accumulation in liver Increased total iron binding capacity Decreased serum ferritin Pica Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy Hyperglycinemia Abnormal myelination Prolonged prothrombin time Paraparesis Echolalia Hypomimic face Action tremor Generalized dystonia Limb dystonia Polycythemia Axonal loss Abnormality of coagulation Steppage gait Toe walking Emotional lability Dysdiadochokinesis Spastic paraparesis Hyperbilirubinemia Apnea Muscular hypotonia of the trunk Thyroglossal cyst Osteolysis Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Opisthotonus Increased antibody level in blood Pulmonary fibrosis Menorrhagia Clubbing Abnormality of the thorax Cholelithiasis Hypoalbuminemia Increased susceptibility to fractures Hydrops fetalis Abnormality of the sternum Decreased body weight Syncope Abdominal distention Ophthalmoplegia Corneal opacity Abnormal pyramidal sign Pallor Osteopenia Dyspnea Abdominal pain Delayed skeletal maturation Arrhythmia Diarrhea Myopia Lower limb hyperreflexia Bulbar palsy EEG abnormality Aortic valve calcification Babinski sign Abnormality of metabolism/homeostasis Hyperreflexia Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Spontaneous hematomas Exertional dyspnea Abnormal thrombosis Generalized osteosclerosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Aseptic necrosis Spontaneous abortion Abnormality of the immune system Increased body weight Skin ulcer Gingivitis Iris hypopigmentation Gingival bleeding Generalized hyperpigmentation Sensory axonal neuropathy Cerebral hemorrhage Albinism Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Foot dorsiflexor weakness Hyperpigmentation of the skin Fair hair Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Peripheral demyelination Brain atrophy Hypopigmentation of the skin Paraplegia Spastic paraplegia Developmental regression Photophobia Hyporeflexia Areflexia Periodontitis Generalized hypopigmentation Aplasia/Hypoplasia of the phalanges of the hallux Generalized hypopigmentation of hair Muscular dystrophy Hyperlordosis Facial palsy Proximal muscle weakness Pes planus Skeletal dysplasia Mandibular prognathia Proptosis Hyperactivity Hypogonadism Frontal bossing Optic atrophy Recurrent systemic pyogenic infections White hair Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Atrial septal defect Abnormality of the first metatarsal bone Genu valgum Decreased serum iron Subcutaneous nodule Myocardial infarction Hypotrichosis Conductive hearing impairment Respiratory failure Alopecia Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Abnormality of the skeletal system Sensorineural hearing impairment Aceruloplasminemia Elevated hepatic iron concentration Aspiration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Blepharospasm Increased serum ferritin Muscle fibrillation Polyuria Torticollis Type I diabetes mellitus Hypothyroidism Respiratory distress Short thumb Finger clinodactyly Progressive cervical vertebral spine fusion Broad femoral neck Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Overbite Stiff neck Short 1st metacarpal Widely spaced teeth Short hallux Myositis Broad neck Exostoses Ankylosis Alopecia of scalp Basal ganglia calcification Hamartoma Spinal rigidity Hallux valgus Metaphyseal widening Sarcoma Carious teeth Vertigo Nephrolithiasis Severe combined immunodeficiency Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Acute lymphoblastic leukemia Chronic myelogenous leukemia Hodgkin lymphoma IgA deficiency Prematurely aged appearance Myeloid leukemia Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Conjunctival telangiectasia Neoplasm of the breast Breast carcinoma Defective B cell differentiation Clumsiness Cholestasis Osteoarthritis Coma Hepatic failure Nausea Infertility Nausea and vomiting Abnormality of the cerebral white matter Pruritus Arthralgia Cerebral atrophy IgE deficiency Abnormal spermatogenesis Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Polycystic ovaries Reduced tendon reflexes Delayed eruption of teeth Elevated erythrocyte sedimentation rate Abnormality of femur morphology Abnormality of tibia morphology Slender build Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Reduced subcutaneous adipose tissue Otosclerosis Hyperostosis Cachexia Abnormality of pelvic girdle bone morphology Easy fatigability Tinnitus Increased intracranial pressure Coxa valga Vasculitis Bone marrow hypocellularity Diplopia Lumbar hyperlordosis Waddling gait Extramedullary hematopoiesis Abnormality of the humerus Recurrent pneumonia Elevated aldolase level Abnormality of the hair Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Telangiectasia Type II diabetes mellitus Decreased antibody level in blood Abnormal cerebellum morphology Distal amyotrophy Distal muscle weakness Carcinoma Abnormal subcutaneous fat tissue distribution Urinary retention Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Limb pain Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Abnormality of divalent inorganic cation homeostasis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Stroke, related diseases and genetic alterations High palate and Bilateral sensorineural hearing impairment, related diseases and genetic alterations Spasticity and Kyphoscoliosis, related diseases and genetic alterations Peripheral neuropathy and Corneal opacity, related diseases and genetic alterations Peripheral neuropathy and Fatigue, related diseases and genetic alterations

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