Autoimmunity, and Chorea

Diseases related with Autoimmunity and Chorea

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


Top matches:

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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Other less relevant matches:

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match BENIGN HEREDITARY CHOREA


BENIGN HEREDITARY CHOREA Is also known as benign familial chorea|bhc

Related symptoms:

  • Gait disturbance
  • Abnormality of movement
  • Chorea


SOURCES: OMIM ORPHANET MENDELIAN

More info about BENIGN HEREDITARY CHOREA

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match CHOREA, BENIGN HEREDITARY; BHC


CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

Low match ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D


ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D Is also known as acat2 deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Fever
  • Chorea
  • Increased serum lactate


SOURCES: OMIM MENDELIAN

More info about ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

Top 5 symptoms//phenotypes associated to Autoimmunity and Chorea

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Chorea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Choreoathetosis Behavioral abnormality Mental deterioration Anemia Fever Dysarthria Obesity Delayed speech and language development Hypocalcemia Hearing impairment Scoliosis High palate Gait disturbance Short neck Hypothyroidism Amenorrhea Primary amenorrhea Purpura Anxiety Short stature Autoimmune thrombocytopenia Dystonia Immunodeficiency Hemolytic anemia Recurrent infections

Rare Symptoms - Less than 30% cases


Hallucinations Conotruncal defect Cholelithiasis Neutropenia Sepsis Sensorineural hearing impairment Hypertelorism Nasal speech Schizophrenia Arteria lusoria Arnold-Chiari malformation Aplasia of the thymus Rheumatoid arthritis Bicuspid aortic valve Right aortic arch with mirror image branching Sacral meningocele Strabismus Cataract Hypergonadotropic hypogonadism Depressivity Retinal vascular tortuosity Duodenal stenosis Psoriasiform dermatitis Abnormality of movement Autoimmune hemolytic anemia Psychosis Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Meningocele Inflammation of the large intestine Truncus arteriosus Myelomeningocele Diarrhea Acne Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Unilateral renal agenesis Right aortic arch Impaired T cell function Renal dysplasia Spina bifida Low posterior hairline Motor delay Blepharophimosis Dementia Abnormality of the pinna Atrial septal defect Arthritis Hypertension Basal ganglia calcification Involuntary movements Tetralogy of Fallot Umbilical hernia Retrognathia Abnormality of cardiovascular system morphology Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Hydrocephalus Patent ductus arteriosus Hepatomegaly Bifid uvula Generalized hypotonia Microcephaly Hypoplasia of the corpus callosum Abnormal facial shape Specific learning disability Bulbous nose Renal agenesis Muscular hypotonia Cleft palate Ventricular septal defect Confusion Myocardial infarction Increased serum lactate Axonal loss Poor head control Cerebellar atrophy Broad 1st metacarpal Hypoplasia of the brainstem Intellectual disability, severe Abnormality of the ear Absent speech Myopathic facies Apathy Hernia Holoprosencephaly Open mouth Peripheral demyelination Colitis Multicystic kidney dysplasia Underdeveloped nasal alae Vesicoureteral reflux Narrow palpebral fissure Dysmetria Anal atresia Hypospadias Pulmonic stenosis Congenital cataract Abnormality of the hand Aggressive behavior Dysdiadochokinesis Conductive hearing impairment Ketosis Obsessive-compulsive behavior Hyperactivity Hemiplegia/hemiparesis Abnormality of the endocrine system Submucous cleft hard palate Renal tubular dysfunction Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Amblyopia Broad thumb Short palpebral fissure Alcoholism Coarctation of aorta High, narrow palate Iris coloboma Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Femoral hernia Perisylvian polymicrogyria Short philtrum Growth delay Pancreatitis Coma Nausea and vomiting Lethargy Renal insufficiency Respiratory distress Optic atrophy Type I truncus arteriosus Abnormality of the middle ear Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Ataxia Attention deficit hyperactivity disorder Axial dystonia Mood swings Asthma Neuronal loss in central nervous system Velopharyngeal insufficiency Giant platelets Astrocytosis Paranoia Hyperostosis frontalis interna Platybasia Psychotic episodes Pulmonary artery atresia Hyperammonemia Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Myoclonus Central nervous system degeneration Craniosynostosis Flexion contracture Abnormality of the kidney Cleft lip Telecanthus Hydronephrosis Narrow mouth Microphthalmia Hypertonia Low-set ears Vascular ring Ptosis Micrognathia Neoplasm Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Pituitary resistance to thyroid hormone Oligomenorrhea Osteoma cutis Hemiplegia Atrophic scars Visual field defect Aphasia Cutis marmorata Heart murmur Personality changes Intracranial hemorrhage Systemic lupus erythematosus Transient ischemic attack Vasculitis Hemiparesis Memory impairment Migraine Nephropathy Vertigo Stroke Paralysis Thrombocytosis Acrocyanosis Facial palsy Lupus anticoagulant Alopecia Babinski sign Abnormality of metabolism/homeostasis Intellectual disability, mild Frontal bossing Downslanted palpebral fissures Hyperreflexia Peripheral neuropathy Antiphospholipid antibody positivity Arteriovenous malformation Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Arterial stenosis Hemianopia Cerebral ischemia Facial paralysis Peripheral arterial stenosis Developmental regression Myalgia Diabetes mellitus Clumsiness Recurrent lower respiratory tract infections IgG deficiency Hepatocellular carcinoma IgA deficiency Encephalitis Leukoencephalopathy Recurrent bacterial infections Chronic diarrhea Recurrent otitis media Agammaglobulinemia Otitis media Decreased antibody level in blood Neurodegeneration Abnormality of the liver Carcinoma Weight loss Splenomegaly Failure to thrive Gingivitis Cholangitis Headache Enlarged tonsils Tremor Visual impairment Pain Muscle weakness Impaired memory B cell generation IgE deficiency Opportunistic infection Agranulocytosis Absence of lymph node germinal center Stomatitis Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Increased IgM level Dysgammaglobulinemia Chronic hepatitis IgM deficiency Hypogonadism Micropenis Broad distal phalanx of the thumb Hypoplasia of dental enamel Spinal cord compression Thickened calvaria Polyphagia Prolonged QT interval Short metatarsal Reduced bone mineral density Conjunctivitis Increased bone mineral density Cerebral calcification Short 4th metacarpal Growth hormone deficiency Short metacarpal Round face Full cheeks Chest pain Muscle cramps Delayed eruption of teeth Paresthesia Hyperphosphatemia Calcinosis Dyspnea Hypocalcemic tetany Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Short 3rd metacarpal Short fifth metatarsal Abdominal symptom Ectopic ossification Elevated calcitonin Abnormal platelet function Myoclonic spasms Elevated circulating parathyroid hormone level Prolactin deficiency Band keratopathy Hypocalcemic seizures Pseudohypoparathyroidism Laryngeal dystonia Short 5th metacarpal Constrictive median neuropathy Autoimmune antibody positivity Irritability Hyporeflexia High forehead Triangular face Sparse scalp hair Fine hair Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Dehydration Decreased testicular size Dental malocclusion Prominent nose Polyneuropathy Hyperlipidemia Sensory neuropathy Delayed puberty Hypotrichosis Arthrogryposis multiplex congenita Prominent nasal bridge Sparse hair Protruding ear Camptodactyly Hypogonadotrophic hypogonadism Premature ovarian insufficiency Brachydactyly Abnormal spermatogenesis Depressed nasal bridge Nystagmus Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal T-wave Sparse eyebrow Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Increased serum pyruvate



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Sparse and thin eyebrow, related diseases and genetic alterations

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