Anemia, and Bradykinesia

Diseases related with Anemia and Bradykinesia

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


Top matches:

Medium 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

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

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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Other less relevant matches:

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match HUNTINGTON DISEASE-LIKE 2


Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

Low match DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME

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

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1


Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease|pkan|pkan neuroaxonal dystrophy, juvenile-onset|pantothenate kinase-associated neurodegeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

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

Top 5 symptoms//phenotypes associated to Anemia and Bradykinesia

Symptoms // Phenotype % cases
Gait disturbance Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Tremor Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Neurodegeneration Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dystonia

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria

Common Symptoms - More than 50% cases


Abnormality of movement

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Parkinsonism

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Intellectual disability Behavioral abnormality Falls Cognitive impairment Peripheral neuropathy Mental deterioration Abnormality of extrapyramidal motor function Spasticity Slurred speech Developmental regression Involuntary movements Depressivity Dementia Delayed speech and language development Abnormal pyramidal sign Diabetes mellitus Brain atrophy Cerebellar atrophy Generalized hypotonia Personality changes Neoplasm Hyperkinesis Difficulty walking Hyperreflexia Neuronal loss in central nervous system Hypertonia Chorea Gait ataxia Hypothyroidism Babinski sign Gliosis Weight loss Thrombocytopenia Gastrointestinal hemorrhage

Rare Symptoms - Less than 30% cases


Deeply set eye Melanocytic nevus Retinal degeneration Shuffling gait Leukopenia Memory impairment Sensory neuropathy Myopathy Loss of speech Scoliosis Hyperpigmentation of the skin Blepharospasm Motor tics Cutaneous photosensitivity Torticollis Action tremor Retinopathy Flexion contracture Hypogonadism Sensory axonal neuropathy Microcephaly Pes cavus Generalized dystonia Cirrhosis Midface retrusion Dysmetria Cardiomyopathy Hypoplasia of the corpus callosum Cryptorchidism Cataract Abnormal facial shape Pigmentary retinopathy Hearing impairment Acanthocytosis Short stature Synophrys Apraxia Hypomimic face Polycythemia Abnormality of the liver Hypergonadotropic hypogonadism Polyneuropathy Bilateral cryptorchidism Paraparesis Iris hypopigmentation Truncal obesity Dysdiadochokinesis Jaundice Muscle fibrillation Osteopenia Strabismus Abnormality of the cerebral white matter Nystagmus Akinesia Cerebral calcification Aceruloplasminemia Progressive cerebellar ataxia Broad-based gait Hepatomegaly Clumsiness Schizophrenia Ankle clonus Restlessness Prominent nasal bridge Cerebellar vermis atrophy Obsessive-compulsive behavior Visual impairment Tics Irritability Recurrent respiratory infections Areflexia Immunodeficiency Spastic paraparesis Dysphagia Splenomegaly Ventriculomegaly Hyperactivity Hypertension Anxiety Aggressive behavior Skeletal muscle atrophy Recurrent infections Limb joint contracture Basal ganglia calcification Encephalopathy Oromandibular dystonia Sensorimotor neuropathy Decreased liver function Metatarsus adductus Pneumonia Mixed hearing impairment Anonychia Plagiocephaly Elevated hepatic transaminase Self-injurious behavior Hypertrophic cardiomyopathy Lower limb muscle weakness Abnormal palate morphology Osteolysis Postural instability Hepatic steatosis Abnormal glucose tolerance Abnormal corpus striatum morphology Postnatal microcephaly Absent facial hair Cerebral cortical atrophy Superiorly displaced ears Calcification of the auricular cartilage Generalized osteoporosis Increased size of the mandible Bone cyst Recurrent ear infections Dystrophic fingernails Posterior scalloping of vertebral bodies Torus palatinus Basilar impression Absent axillary hair Posterior polar cataract Ectopic calcification Narrow iliac wings Hallucinations Broad face Sparse body hair Functional motor deficit Muscular hypotonia of the trunk Absent speech Cerebral atrophy Congenital hypothyroidism Abnormality of the cerebrum Hip contracture Caudate atrophy Striae distensae Apathy Primitive reflex Insulin-resistant diabetes mellitus Irregular vertebral endplates Poor coordination Thoracic kyphosis Delusions Progressive gait ataxia Truncal ataxia Blindness Hyperbilirubinemia Muscle fiber splitting Eyelid apraxia Progressive night blindness Equinovarus deformity Stooped posture Obsessive-compulsive trait Anarthria Mood swings Facial grimacing Orofacial dyskinesia Eye of the tiger anomaly of globus pallidus Abnormal cranial nerve morphology Peripheral visual field loss Abnormality of the musculature Global brain atrophy Decreased muscle mass Alzheimer disease Oral-pharyngeal dysphagia Impulsivity Cerebral degeneration Palilalia Dysphonia Type I diabetes mellitus Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Increased serum ferritin Polyuria Cerebral palsy Confusion Inability to walk Poor speech Congestive heart failure Respiratory distress Fatigue Abnormality of the vasculature Hemiplegia Leukoencephalopathy Leukodystrophy Hemiparesis Cachexia Joint dislocation Portal hypertension Poor fine motor coordination 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 Pica Astrocytosis Esophageal varix Echolalia Limb dystonia Axonal loss Abnormality of coagulation Steppage gait Toe walking Emotional lability Abnormality of amino acid metabolism Decreased serum ferritin Stereotypy Gastroesophageal reflux Frequent falls Choreoathetosis Urinary incontinence Abnormality of skin pigmentation Abnormality of the foot Neurological speech impairment Nyctalopia Feeding difficulties in infancy Rod-cone dystrophy Increased total iron binding capacity Constipation Elevated serum creatine phosphokinase Talipes equinovarus Optic atrophy Feeding difficulties Failure to thrive Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Copper accumulation in liver Knee flexion contracture Long nose Clonus Abnormality of vision Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Cerebral hemorrhage Albinism Decreased nerve conduction velocity Cranial nerve paralysis Periodontitis Foot dorsiflexor weakness Skin ulcer Amblyopia Hypertriglyceridemia Epistaxis Pancytopenia Peripheral demyelination Lymphoma Gingivitis Fair hair Hypopigmentation of the skin Hypofibrinogenemia Growth delay Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Oculogyric crisis Generalized hypopigmentation Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Abnormal bleeding Neutropenia Intrauterine growth retardation Incoordination Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Bronchitis Hypokinesia Rheumatoid arthritis Progressive neurologic deterioration Paranoia Type II diabetes mellitus Generalized-onset seizure Abnormal cerebellum morphology Infertility Abnormality of eye movement Cough Arthritis Myoclonus Testicular atrophy Mania Bruising susceptibility Hepatosplenomegaly Peripheral axonal neuropathy Lymphadenopathy Paresthesia Paraplegia Spastic paraplegia Leukemia Abnormality of the eye Photophobia Reduced visual acuity Abnormal involuntary eye movements Hyporeflexia Atrial septal defect Edema Fever Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Sensorineural hearing impairment Long philtrum Gynecomastia Hydrocephalus Agenesis of corpus callosum Pectus excavatum Microphthalmia Malar flattening Kyphosis Intellectual disability, mild Intellectual disability, severe Anteverted nares Brachycephaly Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Ptosis Micrognathia Long neck Gastrointestinal stroma tumor Multinodular goiter Osteoporosis Autism Chronic lung disease Downturned corners of mouth Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Hip dysplasia Otitis media Nevus Hypoplasia of the maxilla Short distal phalanx of finger Narrow mouth Distal amyotrophy Genu valgum Narrow chest Congenital cataract Broad forehead Protruding ear Conductive hearing impairment Macrotia Glioma Misalignment of teeth Hernia Attention deficit hyperactivity disorder Broad nasal tip Triangular face Long face Hypermetropia Dilated cardiomyopathy Small for gestational age Short philtrum Sparse hair Convex nasal ridge Postnatal growth retardation High forehead Mandibular prognathia Micropenis Severe short stature Inguinal hernia Clinodactyly Obesity Renal agenesis Decreased testicular size Low hanging columella Acanthosis nigricans Increased circulating gonadotropin level Abnormality of lipid metabolism Cortical gyral simplification Ectopic kidney High pitched voice Unilateral renal agenesis Postural tremor Goiter Short chin Limb undergrowth Bone marrow hypocellularity Lymphopenia Insulin resistance Abnormal lung morphology Renal hypoplasia Epidermal acanthosis Hypotelorism Sloping forehead Decreased serum iron



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