Anemia, and Aggressive behavior

Diseases related with Anemia and Aggressive behavior

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


Top matches:

Medium 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

Medium match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

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

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Other less relevant matches:

Medium match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Medium match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

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 MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

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

Top 5 symptoms//phenotypes associated to Anemia and Aggressive behavior

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hyperreflexia Dysarthria Cerebral atrophy Growth delay Dysphagia Vomiting Hypertonia Anxiety Irritability Rigidity Cataract Ataxia Depressivity Microcephaly Dystonia Cognitive impairment Spasticity Peripheral neuropathy Psychosis Schizophrenia Short stature Neurodegeneration Anteverted nares Diabetes mellitus Flexion contracture Abnormality of the cerebral white matter Arthritis Clumsiness Weight loss Hyperactivity Dementia Elevated hepatic transaminase Testicular atrophy Hearing impairment Hepatosplenomegaly Chorea Hypoplasia of the corpus callosum Nystagmus Thrombocytopenia Involuntary movements Intellectual disability, mild Myoclonus Gait ataxia Hepatomegaly Abnormality of the liver

Rare Symptoms - Less than 30% cases


Apnea Diarrhea Cerebral calcification Osteopenia Autism Hip dysplasia Cholestasis Cerebellar atrophy Cirrhosis Ventriculomegaly Gait disturbance Abnormal bleeding Megaloblastic anemia Self-mutilation Intrauterine growth retardation Infertility Jaundice Restlessness Cryptorchidism Congenital cataract Abnormal glucose tolerance Micrognathia Ptosis Poor speech Optic atrophy Fatigue Hypogonadism Hypothyroidism Abnormal facial shape Abnormality of the nervous system Obsessive-compulsive behavior Personality changes Poor coordination Hypergonadotropic hypogonadism Progressive neurologic deterioration Leukoencephalopathy Bradykinesia Spontaneous abortion Failure to thrive Nausea Hepatic steatosis Falls Paresthesia Choreoathetosis Clinodactyly Abnormality of the skeletal system Motor delay Delayed speech and language development Muscular hypotonia Scoliosis Developmental regression Macrocephaly Slurred speech Hemolytic anemia Edema Kyphosis Neoplasm Thickened skin Focal-onset seizure Osteoporosis Clinodactyly of the 5th finger Postnatal growth retardation Hand tremor Self-injurious behavior Finger clinodactyly Ascites Pruritus Mental deterioration Progressive microcephaly Abnormality of movement Nephrolithiasis Oral-pharyngeal dysphagia Generalized-onset seizure Hyperplasia of the maxilla Abnormality of the optic disc Acute hepatic failure Renal tubular dysfunction Hypochromic anemia Increased reactive oxygen species production J-shaped sella turcica Obstructive lung disease Chondrocalcinosis Hypoparathyroidism Esophageal varix Hyperphosphaturia Peripheral axonal neuropathy Neoplasm of the liver Communicating hydrocephalus Mixed demyelinating and axonal polyneuropathy Abnormality of the skull Edema of the lower limbs High nonceruloplasmin-bound serum copper Acute hepatitis Beaking of vertebral bodies Hypersexuality Increased mean corpuscular volume Inspiratory stridor Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Thoracolumbar kyphosis Proximal muscle weakness in lower limbs Menstrual irregularities Hepatocellular carcinoma Osteomalacia Morphological abnormality of the central nervous system Bone pain Nephrocalcinosis Aminoaciduria Splenomegaly Muscle stiffness Arthralgia Difficulty walking Proteinuria Increased body weight Decreased liver function Drooling Osteoarthritis Hepatitis Coma Polyneuropathy Nausea and vomiting Hepatic failure Confusion Joint hypermobility Leukopenia Abnormality of the hand Heparan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Urinary glycosaminoglycan excretion Joint swelling Anisopoikilocytosis Short digit Abnormality of blood and blood-forming tissues Arthropathy Glycosuria Pathologic fracture Global brain atrophy Abnormality of nasopharyngeal adenoids Dermatan sulfate excretion in urine Abnormality of mitochondrial metabolism Hypercalciuria Intervertebral space narrowing Focal seizures, afebril Back pain Dysplastic aortic valve Localized skin lesion Bruising susceptibility Body odor Kayser-Fleischer ring Knee flexion contracture Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Basal ganglia calcification Clonus Gynecomastia Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Otitis media Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Ankle clonus Sparse body hair Narrow chest Ectopic calcification Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Recurrent ear infections Congenital hypothyroidism Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Hip contracture Genu valgum Synophrys Atypical or prolonged hepatitis Hypoplastic left heart Hyperphenylalaninemia Protuberant abdomen Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Iron deficiency anemia Scleroderma Malnutrition Microphakia Coarctation of aorta Eczema Delayed myelination Asthma Dry skin Attention deficit hyperactivity disorder Skin rash Abnormal heart morphology Abnormality of cardiovascular system morphology Headache Wide nasal bridge Prenatal maternal abnormality Increased level of hippuric acid in urine Broad forehead Babinski sign Prominent nasal bridge Abnormal pyramidal sign Protruding ear Conductive hearing impairment Deeply set eye Macrotia Narrow mouth Brachycephaly Pes cavus Agenesis of corpus callosum Areflexia Phenylpyruvic acidemia Pectus excavatum Midface retrusion Microphthalmia Malar flattening Myopathy Intellectual disability, severe Hydrocephalus Downslanted palpebral fissures Skeletal muscle atrophy Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Insomnia Blurred vision Distal arthrogryposis Gliosis Hypokinesia Akinesia Rheumatoid arthritis Incoordination Hyperkinesis Broad-based gait Type II diabetes mellitus Neuronal loss in central nervous system Brain atrophy Progressive cerebellar ataxia Bronchitis Abnormal cerebellum morphology Abnormality of eye movement Cough Hypertension Podagra Bladder stones Excessive purine production Hyperuricosuria Facial grimacing Muscle fibrillation Cerebellar vermis atrophy Dyslexia Feeding difficulties Reduced antithrombin III activity Type I transferrin isoform profile Skin dimples Hypoproteinemia Inverted nipples Infantile spasms Exotropia Single transverse palmar crease Respiratory insufficiency Strabismus Upper limb undergrowth Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Dilated fourth ventricle Chronic bronchitis Head tremor Focal dystonia Gout Talipes equinovarus Limb ataxia Action tremor Reticulocytosis Hyperactive deep tendon reflexes Atonic seizures Impulsivity Focal impaired awareness seizure Hemiplegia Absence seizures Horizontal nystagmus Lower limb spasticity Torsion dystonia Frequent falls Specific learning disability Migraine Dyskinesia Dysmetria Generalized tonic-clonic seizures Intellectual disability, moderate EEG abnormality Muscle weakness Episodic ataxia Abnormality of the head Hyperuricemia Hematuria Opisthotonus Athetosis Proximal placement of thumb Cerebral palsy Spastic gait Stereotypy Recurrent urinary tract infections Abnormality of extrapyramidal motor function Nephropathy Hip dislocation Migraine without aura Renal insufficiency Pain Generalized tonic-clonic seizures without focal onset Hypoglycorrhachia Upper limb dysmetria Focal aware seizure Jerky head movements Paroxysmal dystonia Paroxysmal dyskinesia Limb dysmetria Epicanthus Immunodeficiency Protruding tongue Sideroblastic anemia Short neck Frontal bossing Depressed nasal bridge Low-set ears Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Pollakisuria Prominent forehead Respiratory arrest Central diabetes insipidus Histiocytosis Stroke-like episode Neurogenic bladder Central apnea Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Inguinal hernia Proptosis Hydroureter Pulmonary arterial hypertension Pericardial effusion Heart murmur Recurrent upper respiratory tract infections Increased intracranial pressure Tachypnea Progressive hearing impairment Abnormality of the face Mitral regurgitation Recurrent otitis media Mitral valve prolapse Mandibular prognathia Abnormality of the cardiovascular system Cyanosis Limitation of joint mobility Macroglossia Tachycardia Joint stiffness Umbilical hernia Coarse facial features Kyphoscoliosis Dyspnea Polyphagia Diabetes insipidus Recurrent infections Malabsorption Abnormal intestine morphology Hyperbilirubinemia Lymphopenia Hypohidrosis Chronic diarrhea Pancytopenia Decreased fetal movement Decreased antibody level in blood Postaxial polydactyly Arthrogryposis multiplex congenita Loss of consciousness Abnormal cardiac septum morphology Muscular hypotonia of the trunk Neonatal hypotonia Retrognathia Polyhydramnios Hyperkeratosis Polydactyly Cerebral cortical atrophy Hyperhidrosis Inflammation of the large intestine Combined immunodeficiency Abnormality of the urinary system Dilatation Anosmia Sleep apnea Type I diabetes mellitus Pigmentary retinopathy Dehydration Vesicoureteral reflux Hydronephrosis Respiratory failure Constipation Blindness Neurodevelopmental delay Cardiomyopathy Sensorineural hearing impairment Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Superiorly displaced ears



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