Autoimmunity, and Arthrogryposis multiplex congenita

Diseases related with Autoimmunity and Arthrogryposis multiplex congenita

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


Top matches:

Medium match CONGENITAL PREKALLIKREIN DEFICIENCY


A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

Medium match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Medium 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

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Other less relevant matches:

Medium 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

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Medium 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

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 MENTAL RETARDATION, FRA12A TYPE


FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Hyperkeratosis
  • Arthrogryposis multiplex congenita


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, FRA12A TYPE

Low match ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG


Related symptoms:

  • Flexion contracture
  • Ventricular septal defect
  • Atrial septal defect
  • Camptodactyly
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG

Low match ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Top 5 symptoms//phenotypes associated to Autoimmunity and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Coma Sensorineural hearing impairment Easy fatigability Diabetes mellitus Psychosis Renal tubular dysfunction Ophthalmoplegia Bilateral ptosis Generalized myoclonic seizures Dehydration Glycosuria Muscular hypotonia Ataxia Weight loss Generalized tonic-clonic seizures Ptosis Dysarthria Feeding difficulties Dysphagia

Rare Symptoms - Less than 30% cases


Hypovolemia Nystagmus Contractures of the joints of the lower limbs Downturned corners of mouth Abnormality of the upper urinary tract Ketonuria Prominent metopic ridge Neurodevelopmental delay Hyperglycemia Peripheral axonal neuropathy Apraxia Low-set ears Autoimmune antibody positivity High palate Dystonia Amenorrhea Atopic dermatitis Polyneuropathy Hallucinations Delayed puberty Hypogonadotrophic hypogonadism Purpura Protruding ear Camptodactyly Mental deterioration Hypothyroidism Hypogonadism Diarrhea Areflexia Gait disturbance Heart block Hyperreflexia Peripheral neuropathy Cognitive impairment Hypertelorism Overlapping toe Microcephaly Muscle fiber atrophy Abnormal heart morphology Gastroesophageal reflux Hyporeflexia Motor polyneuropathy Bilateral sensorineural hearing impairment Weak cry Diplopia Paresthesia Fatigable weakness Hyperthyroidism Dyspnea Polyhydramnios Cyanosis Hip dysplasia Fever Bulbar palsy Ophthalmoparesis Generalized muscle weakness Poor suck Proximal muscle weakness Apnea Primary adrenal insufficiency Respiratory distress Hashimoto thyroiditis Jaundice Ichthyosis Acetylcholine receptor antibody positivity Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Muscle weakness Pulmonic stenosis Ventricular septal defect Generalized hypotonia Intrauterine growth retardation Nephropathy Abnormality of neuronal migration Mask-like facies Personality changes Focal segmental glomerulosclerosis Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Hyponatremia Abnormality of mitochondrial metabolism Abnormal cerebellum morphology Adrenal insufficiency Sudden cardiac death Intestinal obstruction Muscle cramps Bifid scrotum Ventricular hypertrophy Postural instability Multiple lipomas Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertigo Lactic acidosis Vertebral fusion Nausea Polymicrogyria Bundle branch block Prolonged QT interval Visual field defect Hirsutism Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Aortic aneurysm Hyperkinesis Sensory impairment Hemiparesis Clonus Cerebral visual impairment Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Rhabdomyolysis Specific learning disability Cardiac arrest Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Generalized-onset seizure Nephrotic syndrome Type II diabetes mellitus Pulmonary arterial hypertension Atrial fibrillation Status epilepticus Memory impairment Truncal ataxia Hemiplegia Hypopigmented skin patches Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Goiter Schizophrenia Mutism Ischemic stroke Increased serum lactate Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Exercise intolerance Migraine Type I diabetes mellitus Generalized hirsutism EMG abnormality Hypertrichosis Seborrheic dermatitis Thyroiditis Abnormal mitochondrial shape Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Cochlear degeneration Hyperkeratosis Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Behavioral abnormality Erythroderma Psychotic episodes Metabolic acidosis Giant cell hepatitis Nephrogenic diabetes insipidus Cholestatic liver disease Conjugated hyperbilirubinemia Right ventricular hypertrophy Renal tubular acidosis Lissencephaly Nephrocalcinosis Sloping forehead Elevated hepatic transaminase Flexion contracture Decreased hip abduction Aseptic necrosis Multiple joint contractures Pyloric stenosis Joint contracture of the hand Inflammatory abnormality of the skin Asthma Full cheeks Atrial septal defect Abnormality of the cerebellar vermis Tubulointerstitial abnormality Abnormality of immune system physiology Posterior subcapsular cataract Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Reduced consciousness/confusion Mitochondrial myopathy Hypoparathyroidism Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Drowsiness Distal arthrogryposis Pulmonary embolism Cerebral ischemia Gait imbalance Renal Fanconi syndrome Dysesthesia Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Psychomotor deterioration Episodic vomiting Anterior hypopituitarism Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Dysmetria Stroke-like episode Confusion Abnormality of the dentition Anal atresia Toe walking Spinal deformities Respiratory arrest Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Spinal rigidity Stridor EEG with polyspike wave complexes Nasal speech Dysphonia Poor head control EMG: myopathic abnormalities Microretrognathia Congenital hip dislocation Decreased fetal movement Waddling gait Esotropia Central sleep apnea Staring gaze Long face Intellectual disability, mild Abnormality of movement Hypotrichosis Prominent nasal bridge Sparse hair High forehead Micropenis Alopecia Babinski sign Abnormality of metabolism/homeostasis Frontal bossing Nasal regurgitation Downslanted palpebral fissures Delayed speech and language development Scoliosis EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Distal amyotrophy Pectus carinatum Triangular face Hepatitis Type 2 muscle fiber atrophy Myositis Raynaud phenomenon Acrocyanosis Abnormality of the immune system Rheumatoid arthritis Systemic lupus erythematosus Respiratory insufficiency due to muscle weakness Aspiration Tapered finger Abnormality of the thymus Hemolytic anemia Paralysis Respiratory tract infection Rigidity Respiratory failure Strabismus Graves disease Prolonged partial thromboplastin time Abnormal bleeding EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Pure red cell aplasia Joint laxity Insulin resistance Difficulty walking Kyphoscoliosis Pes cavus Recurrent respiratory infections Elevated hemoglobin A1c Abnormality of the pancreatic islet cells Transient neonatal diabetes mellitus Maternal diabetes Steatorrhea Reduced pancreatic beta cells Hyperacusis Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Microalbuminuria Retinopathy Intellectual disability, severe Single fiber EMG abnormality Muscle specific kinase antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Decreased miniature endplate potentials Sensory neuropathy Prominent nose Malabsorption Delayed skeletal maturation Cerebral cortical atrophy Abdominal pain Osteoporosis Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Elevated serum creatine phosphokinase Autism Arrhythmia Visual loss Encephalopathy Depressivity Cerebral atrophy Headache Renal insufficiency Kyphosis Hypertonia Gait ataxia Acidosis Vomiting Nyctalopia Nausea and vomiting Carious teeth Congenital cataract Lethargy Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Abnormality of the liver Photophobia Erythema Abnormality of the pinna Developmental regression Feeding difficulties in infancy Hypertrophic cardiomyopathy Proteinuria Anxiety Myalgia EEG abnormality Congestive heart failure Cerebellar atrophy Dental malocclusion Sparse eyebrow Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Premature ovarian insufficiency Increased thyroid-stimulating hormone level Hyperlipidemia Hypergonadotropic hypogonadism Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Fine hair Abnormality of extrapyramidal motor function Decreased testicular size Abnormal spermatogenesis Streak ovary Myopathy Hepatomegaly Blindness Cardiomyopathy Short neck Respiratory insufficiency Ventriculomegaly Fatigue Tremor Optic atrophy Skeletal muscle atrophy Hypertension Decreased serum insulin-like growth factor 1 Visual impairment Anemia Cataract Pain Growth delay Short stature Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Talipes calcaneovalgus



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