Autoimmunity, and Apraxia

Diseases related with Autoimmunity and Apraxia

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


Top matches:

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

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 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Low match RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME


Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match PILAROWSKI-BJORNSSON SYNDROME; PILBOS


Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

Top 5 symptoms//phenotypes associated to Autoimmunity and Apraxia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Confusion Uncommon - Between 30% and 50% cases
Ophthalmoplegia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Dysarthria Hearing impairment Headache Depressivity Dysphagia Dementia Peripheral neuropathy Paresthesia Memory impairment Renal tubular dysfunction Areflexia Sensory impairment Bilateral ptosis Arthrogryposis multiplex congenita Failure to thrive Muscular hypotonia Motor delay Weight loss Generalized tonic-clonic seizures Cognitive impairment Generalized myoclonic seizures Coma

Rare Symptoms - Less than 30% cases


Polyneuropathy Visual loss Speech apraxia Hyperreflexia Hallucinations Tremor Gait disturbance Generalized-onset seizure Muscle stiffness Thyroiditis Hashimoto thyroiditis Constipation Neonatal hypoglycemia Hyperkinesis Generalized hypotonia Autism Visual hallucinations Developmental regression Ophthalmoparesis Visual impairment Malabsorption Dysmetria Delusions Mental deterioration Proteinuria Abnormality of the upper urinary tract Ketonuria Glycosuria Neurodevelopmental delay Hyperglycemia Dehydration Diabetes mellitus Downturned corners of mouth Peripheral axonal neuropathy Growth delay Abnormal heart morphology Contractures of the joints of the lower limbs Prominent metopic ridge Nystagmus Hypovolemia Anemia Intrauterine growth retardation Muscle weakness Pain Ptosis Autoimmune antibody positivity Episodic vomiting Motor polyneuropathy Dysesthesia Gastroparesis Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Cochlear degeneration Abnormal mitochondrial shape Psychomotor deterioration Auditory hallucinations Progressive night blindness Abnormality of the cerebellar vermis Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Hemianopia Amaurosis fugax Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Cochlear malformation Edema of the dorsum of hands Abnormality of the renal tubule Rigidity Ileus Distal arthrogryposis Xerostomia Vitiligo Senile plaques Abnormality of visual evoked potentials Vertical supranuclear gaze palsy Atopic dermatitis Drowsiness Pulmonary embolism Hypoparathyroidism Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Heart block Mitochondrial myopathy Proximal tubulopathy Reduced consciousness/confusion Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Left ventricular failure Paralytic ileus Stroke-like episode Anterior hypopituitarism Gait imbalance Cerebral ischemia Progressive external ophthalmoplegia Wolff-Parkinson-White syndrome Increased CSF lactate Tubulointerstitial nephritis Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Seborrheic dermatitis Bilateral intracranial calcifications Abnormal cochlea morphology Positive Romberg sign Difficulty walking Spasticity Neoplasm Abnormality of central motor conduction Parkinsonism Limb dysmetria Gliosis Syncope Urinary incontinence Increased serum pyruvate ST segment elevation Sensory axonal neuropathy Neuronal loss in central nervous system Impaired vibratory sensation Abnormality of movement Bradykinesia Behavioral abnormality Scarring Diplopia Acute demyelinating polyneuropathy Postnatal growth retardation Pneumonia Broad eyebrow Abnormal pyramidal sign Dermal translucency Periorbital fullness Pointed chin Falls Immunodeficiency Dyskinesia Frontal bossing Downslanted palpebral fissures Macrocephaly Urinary hesitancy CNS demyelination Brain neoplasm Emotional lability Incoordination Paraparesis Bulbar palsy Homonymous hemianopia Hypoglycemia Hemihypertrophy Flushing Truncal obesity Large for gestational age Gynecomastia Overgrowth Loss of consciousness Hyperhidrosis Hypoketotic hypoglycemia Neurofibrillary tangles Prominent ear helix Morphological abnormality of the inner ear Lewy bodies Supranuclear gaze palsy Morphological abnormality of the vestibule of the inner ear Episodic quadriplegia Abnormality of acid-base homeostasis Recurrent hypoglycemia Hypoglycemic seizures Esotropia Megaloblastic anemia Tetraplegia Spastic paraparesis Limb muscle weakness Respiratory failure Malabsorption of Vitamin B12 Vitamin B12 deficiency Poikiloderma Paralysis Nonketotic hypoglycemia Abnormal circulating insulin level Increased circulating free fatty acid level Multiple lipomas Enlarged tonsils Increased hepatic glycogen content Alzheimer disease Follicular hyperplasia Hypoglycemic coma Vertebral fusion Hypopigmented skin patches Prolonged QT interval Hypogonadism Gastroesophageal reflux Acidosis Dyspnea Hypothyroidism Gait ataxia Cerebral cortical atrophy Abdominal pain Osteoporosis Photophobia Myoclonus Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Jaundice EEG abnormality Cerebral atrophy Attention deficit hyperactivity disorder Carious teeth Congenital cataract Lethargy Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Nyctalopia Myalgia Abnormality of the liver Erythema Protruding ear Abnormality of the pinna Feeding difficulties in infancy Apnea Hypertrophic cardiomyopathy Anxiety Encephalopathy Renal insufficiency Delayed puberty Transient neonatal diabetes mellitus Cataract Sensorineural hearing impairment Hypertelorism Microcephaly Short stature Elevated hemoglobin A1c Abnormality of the pancreatic islet cells Maternal diabetes Hypertension Steatorrhea Insulin resistance Reduced pancreatic beta cells Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Microalbuminuria Retinopathy Intellectual disability, severe Feeding difficulties Hepatomegaly Kyphosis Myopathy Dystonia Hypertonia Abnormality of the dentition Congestive heart failure Diarrhea Vomiting Cerebellar atrophy Blindness Fever Cardiomyopathy Respiratory distress Short neck Respiratory insufficiency Ventriculomegaly Fatigue Optic atrophy Skeletal muscle atrophy Nausea and vomiting Anal atresia Visual field defect Mutism Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Goiter Schizophrenia Ischemic stroke Hypercalciuria Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Decreased nerve conduction velocity Hemiplegia Hypogonadotrophic hypogonadism Abnormality of neuronal migration Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Aortic aneurysm Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Type I diabetes mellitus Generalized hirsutism Ichthyosis Sudden cardiac death Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Increased serum lactate Migraine Abnormal cerebellum morphology Bilateral sensorineural hearing impairment Muscle cramps Postural instability Nephropathy Hirsutism Polymicrogyria Nausea Lactic acidosis Vertigo Abnormality of the cardiovascular system Nephrotic syndrome EMG abnormality Left ventricular hypertrophy Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Abnormality of retinal pigmentation Gingival overgrowth Anorexia Decreased body weight Type II diabetes mellitus Involuntary movements Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Fluctuations in consciousness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Arthrogryposis multiplex congenita, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more