Autoimmunity, and Developmental regression

Diseases related with Autoimmunity and Developmental regression

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


Top matches:

Medium 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

Medium match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Mendelian

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

Learn more

Other less relevant matches:

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

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 PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Low match MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY


Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Low match PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA


Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.

PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA Is also known as pmed|progressive myoclonus epilepsy with dystonia

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Feeding difficulties
  • Optic atrophy
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA

Top 5 symptoms//phenotypes associated to Autoimmunity and Developmental regression

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Generalized myoclonic seizures Generalized hypotonia Ataxia Dystonia Hemiplegia Hemiparesis Clonus Cerebral ischemia Nephropathy Migraine Hyperreflexia Fever Hypertension Microcephaly Tremor Stroke Headache Feeding difficulties Blindness Glomerulopathy Muscular hypotonia of the trunk Vomiting Myoclonus Visual loss Motor delay Gait disturbance Nystagmus Weight loss Optic atrophy Malabsorption Spasticity Visual impairment Transient ischemic attack Diarrhea Memory impairment Falls Behavioral abnormality Dementia Myalgia Mental deterioration Pain Growth delay Status epilepticus Frequent falls Confusion Vertigo

Rare Symptoms - Less than 30% cases


Hemiplegia/hemiparesis Ankle clonus Erythema Pneumonia Loss of speech Photophobia Fatigue Diffuse cerebral atrophy Truncal ataxia Dyspnea Abdominal pain Involuntary movements Abnormal nerve conduction velocity Cataract Apraxia Scarring Pancreatitis Abnormal cerebellum morphology Immunodeficiency Kyphosis Abnormality of the dentition Congestive heart failure Cerebellar atrophy Cardiomyopathy Short neck Proteinuria Anemia Short stature Stage 5 chronic kidney disease Tubulointerstitial nephritis Gliosis Abnormal pyramidal sign Speech apraxia Nephrotic syndrome Hyperkalemia Pulmonary embolism Chronic kidney disease Nephritis Focal segmental glomerulosclerosis Encephalitis Decreased nerve conduction velocity Anorexia Paresthesia Nausea and vomiting Ptosis Hypothyroidism Muscular hypotonia EEG abnormality Rigidity Irritability Failure to thrive Visual field defect Protruding ear Hemianopia Hearing impairment Sensorineural hearing impairment Aphasia Cerebral cortical atrophy Encephalopathy Autism Brain atrophy Dilatation Personality changes Myocardial infarction Cerebral calcification Dysarthria EMG abnormality Peripheral neuropathy Amaurosis fugax Reduced visual acuity Vasculitis Leukodystrophy Apnea Epileptic encephalopathy Hypertonia Prolonged QT interval Multiple lipomas Anal atresia Dysmetria Pigmentary retinopathy Dysphasia Vestibular dysfunction Bundle branch block Overlapping toe Abnormality of neuronal migration Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Adrenal insufficiency Rhabdomyolysis Vertebral fusion Atopic dermatitis Pruritus Generalized tonic-clonic seizures Lethargy Neonatal hypoglycemia Abnormality of visual evoked potentials Arthrogryposis multiplex congenita Hashimoto thyroiditis Ophthalmoplegia Congenital cataract Progressive sensorineural hearing impairment Drowsiness Distal arthrogryposis Primary adrenal insufficiency Abnormality of immune system physiology Carious teeth Thyroiditis Hyperthyroidism Delayed puberty Basal ganglia calcification Aortic aneurysm Nausea Ichthyosis Atrial fibrillation Coma Cerebral visual impairment Postural instability Muscle cramps Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Decreased body weight Hypertrichosis Ventricular hypertrophy Polyneuropathy Psychosis Sudden cardiac death Sensory impairment Increased serum lactate Type II diabetes mellitus Hip dysplasia Bilateral sensorineural hearing impairment Specific learning disability Generalized-onset seizure Amenorrhea Cardiac arrest Generalized hirsutism Bilateral ptosis Schizophrenia Hypercalciuria Peripheral axonal neuropathy Cachexia Atrioventricular block Growth abnormality Lactic acidosis Easy fatigability Abnormality of the cardiovascular system Hyperkinesis Goiter Mutism Hirsutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Polymicrogyria Hypogonadotrophic hypogonadism Pulmonary arterial hypertension Tubulointerstitial abnormality Vitiligo Amblyopia Lower limb spasticity Progressive neurologic deterioration Hemolytic anemia Paraplegia Spastic paraplegia Skin rash Abnormality of the nervous system Babinski sign Camptocormia Hyperechogenic kidneys Limb hypertonia Oculomotor apraxia Choreoathetosis Freckling Dyskinesia Abnormality of eye movement Abnormality of the eye Difficulty walking Strabismus Broad eyebrow Dermal translucency Periorbital fullness Pointed chin Postnatal growth retardation Frontal bossing Downslanted palpebral fissures Toe walking Progressive spastic paraplegia Prominent ear helix Poor eye contact EEG with irregular generalized spike and wave complexes Diffuse cerebellar atrophy Excessive daytime sleepiness Generalized neonatal hypotonia Delayed CNS myelination Recurrent upper respiratory tract infections Abnormality of extrapyramidal motor function Focal motor seizures Multifocal seizures Developmental stagnation Flushing Epileptic spasms Muscle fibrillation Generalized dystonia Progressive microcephaly Hypsarrhythmia Cyanosis Neuronal loss in central nervous system Focal-onset seizure Delayed myelination Tetraplegia Absent speech Hypoplasia of the corpus callosum Limb tremor Loss of ability to walk Moderate global developmental delay Macrocephaly Morphological abnormality of the inner ear Xerostomia Reduced consciousness/confusion Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Wolff-Parkinson-White syndrome Psychomotor deterioration Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Dysesthesia Muscle fiber atrophy Morphological abnormality of the vestibule of the inner ear Paronychia Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Spotty hypopigmentation Writer's cramp Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Neurological speech impairment Renal Fanconi syndrome Auditory hallucinations Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Dilated cardiomyopathy Precocious atherosclerosis Attention deficit hyperactivity disorder Meningitis Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Acne Rheumatoid arthritis Pleural effusion Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Aortic regurgitation Subcutaneous nodule Hemoptysis Mitral regurgitation Abnormal blistering of the skin Gastrointestinal hemorrhage Chest pain Lymphadenopathy Papule Cough Retinopathy Joint stiffness Arthritis Arthralgia Pericarditis Aseptic necrosis Alopecia Pleuritis Retrobulbar optic neuritis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Oral ulcer Uveitis Endocarditis Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Myositis Raynaud phenomenon Gangrene Pulmonary infiltrates Pustule Glaucoma Splenomegaly Superficial thrombophlebitis Facial paralysis Abnormality of the cerebral white matter Pallor Pes cavus Recurrent respiratory infections Abnormality of metabolism/homeostasis Hydrocephalus Lupus anticoagulant Antiphospholipid antibody positivity Vascular skin abnormality Thromboembolic stroke Arterial stenosis Peripheral arterial stenosis Neurodegeneration Arteriovenous malformation Acrocyanosis Thrombocytosis Atrophic scars Cutis marmorata Heart murmur Intracranial hemorrhage Systemic lupus erythematosus Chorea Paralysis Facial palsy Sensory neuropathy Peripheral demyelination Neoplasm Episodic fever Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Increased CSF protein Autoimmune thrombocytopenia Hyperactive deep tendon reflexes Optic disc pallor Progressive spasticity Opisthotonus Global brain atrophy Postural tremor CNS hypomyelination Spastic tetraparesis Spastic paraparesis Paraparesis Horizontal nystagmus Sensorimotor neuropathy Progressive muscle weakness Tetraparesis Orchitis Panuveitis Nyctalopia Shallow acetabular fossae Hepatomegaly Hypertelorism Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Steroid-resistant nephrotic syndrome Dysphagia Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Villous atrophy Lymphoproliferative disorder B-cell lymphoma Skeletal muscle atrophy Ventriculomegaly Ovoid vertebral bodies Osteoporosis Abnormality of the liver Abnormality of the pinna Feeding difficulties in infancy Hypertrophic cardiomyopathy Anxiety Jaundice Gastroesophageal reflux Acidosis Gait ataxia Diabetes mellitus Hypogonadism Rod-cone dystrophy Respiratory insufficiency Cerebellar hypoplasia Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Areflexia Arrhythmia Depressivity Cerebral atrophy Myopathy Respiratory distress Disproportionate short-trunk short stature Thoracic kyphosis Genital ulcers Abnormality of the kidney Waddling gait Lymphoma Premature birth Neutropenia Bulbous nose Abnormality of skin pigmentation Astigmatism Platyspondyly Hip dislocation Corneal opacity Hyperlordosis Thin upper lip vermilion Microdontia Osteopenia Thrombocytopenia Recurrent infections Intrauterine growth retardation Myopia Depressed nasal bridge Abnormal facial shape Scoliosis Hypopyon Decreased level of D-mannose in urine Epididymitis Decreased testicular size Lumbar hyperlordosis Abnormality of the vasculature Glomerulosclerosis Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Spondyloepiphyseal dysplasia Melanocytic nevus Glomerulonephritis Epiphyseal dysplasia Coarse hair Intellectual disability, profound Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Poor visual behavior for age



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more