Autoimmunity, and Distal amyotrophy

Diseases related with Autoimmunity and Distal amyotrophy

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


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Low 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

Low match DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

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Other less relevant matches:

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C


Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C Is also known as charcot-marie-tooth neuropathy, dominant intermediate c|di-cmtc|cmtdic

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Distal muscle weakness
  • Abnormality of the foot
  • Distal amyotrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Top 5 symptoms//phenotypes associated to Autoimmunity and Distal amyotrophy

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cirrhosis Jaundice Distal muscle weakness Proximal muscle weakness Short stature Elevated hepatic transaminase Ataxia Macrotia

Rare Symptoms - Less than 30% cases


Respiratory failure Fatigue Fever Hepatosplenomegaly Abnormality of the liver Muscular dystrophy Hemolytic anemia Ascites Hepatitis Congestive heart failure Hypertension Cholelithiasis Pancreatitis Osteopenia Osteoporosis Delayed skeletal maturation Thrombocytopenia Renal insufficiency Diarrhea Respiratory insufficiency Limb-girdle muscular dystrophy Cognitive impairment Glioma Gait disturbance Increased serum ferritin Distal sensory impairment Limb-girdle muscle weakness Muscle fiber atrophy Muscular hypotonia Anemia Myopathy Cachexia Seizures EMG: myopathic abnormalities Neoplasm Micrognathia Global developmental delay Angina pectoris Tall stature Recurrent respiratory infections Telangiectasia Lymphoma Feeding difficulties Motor delay Prominent nasal bridge Attention deficit hyperactivity disorder Small for gestational age Abnormality of neuronal migration Leukemia Anal atresia Deep philtrum Neurodegeneration Prominent nose Otitis media Convex nasal ridge Premature ovarian insufficiency Amenorrhea Sloping forehead Cleft upper lip Recurrent pneumonia Cutaneous photosensitivity Primary amenorrhea Choanal atresia Abnormality of the face Recurrent urinary tract infections Low anterior hairline Wide nose Bronchiectasis Cafe-au-lait spot Lymphopenia Sinusitis Nevus Subcutaneous nodule Broad thumb Abnormality of the hair Chronic diarrhea Visceral angiomatosis Mental deterioration Growth delay Pneumonia Hypospadias Immunodeficiency Short neck Intrauterine growth retardation Depressed nasal bridge Cleft palate Microcephaly Hyperactivity Neoplasm of the adrenal cortex Thyroid carcinoma Abnormal large intestine morphology Uterine neoplasm Intestinal polyposis Abdominal wall muscle weakness Subcutaneous hemorrhage Hamartomatous polyposis Upslanted palpebral fissure Abnormality of the optic nerve Neoplasm of the breast Hamartoma Narrow palate Delayed gross motor development Intracranial hemorrhage Aortic aneurysm Cutis marmorata Intellectual disability, moderate Multiple lipomas Multiple cafe-au-lait spots Abnormality of the nervous system Retrognathia Irregular hyperpigmentation Hashimoto thyroiditis Lipoma Hydronephrosis Capillary hemangioma Meningioma Arteriovenous malformation Combined immunodeficiency Lymphedema Morphological abnormality of the central nervous system Non-midline cleft lip Hyperinsulinemia Insulin-resistant diabetes mellitus Lipoatrophy Polyphagia High pitched voice Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Lipodystrophy Polycystic ovaries Oligomenorrhea Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Abnormality of the genital system Hypertrichosis Hypertriglyceridemia Epidermal acanthosis Abnormality of lipid metabolism Long foot Nephropathy Labial hypertrophy Rimmed vacuoles Alzheimer disease Elevated serum creatine phosphokinase Axonal regeneration Upper limb muscle weakness Onion bulb formation Sensory impairment Abnormality of the foot Generalized muscular appearance from birth Cystic angiomatosis of bone Abnormality of the ovary Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Bone cyst Triangular face Hepatic steatosis Long nose Abnormal eyelid morphology Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Dolichocephaly Pollakisuria Myositis Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling B lymphocytopenia T-cell lymphoma Hirsutism Peripheral neuropathy Hypertrophic cardiomyopathy Umbilical hernia Mandibular prognathia Diabetes mellitus Hyperhidrosis Hernia Dilatation Intellectual disability, mild Cardiomyopathy Hand muscle atrophy Recurrent infection of the gastrointestinal tract Decreased nerve conduction velocity Peripheral demyelination Arrhythmia Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Joint hyperflexibility Chronic hepatic failure Neurological speech impairment Episodic respiratory distress Pericardial effusion Hyperkalemia Hyperbilirubinemia Dehydration Pallor Edema Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Frontalis muscle weakness Reticulocytosis Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Thromboembolism Esophageal varix Spinal deformities Schistocytosis Failure to thrive Generalized hypotonia Increased red cell hemolysis by shear stress Exercise-induced hemolysis Increased intracellular sodium Increased mean corpuscular hemoglobin concentration Recurrent thromboembolism Pyropoikilocytosis Compensated hemolytic anemia Generalized edema Portal vein thrombosis Chronic hemolytic anemia Antiphospholipid antibody positivity Hemoglobinuria Stomatocytosis Intermittent jaundice Gastritis Elliptocytosis Spherocytosis Central sleep apnea Respiratory arrest Vomiting Polyhydramnios Long face Ophthalmoplegia Arthrogryposis multiplex congenita Pectus carinatum Joint laxity Difficulty walking Kyphoscoliosis Gastroesophageal reflux Pes cavus Esotropia Hyporeflexia Areflexia Dysphagia High palate Low-set ears Ptosis Sensorineural hearing impairment Nystagmus Generalized muscle weakness Waddling gait Motor polyneuropathy Toe walking Distal lower limb muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Spinal rigidity Bulbar palsy Stridor Cyanosis Nasal speech Poor suck Dysphonia Easy fatigability Poor head control Microretrognathia Congenital hip dislocation Diplopia Decreased fetal movement Intellectual disability, severe Acidosis Hypoglycemia Uveitis Vitamin D deficiency Histiocytosis Prolonged prothrombin time Cholangitis Cholestatic liver disease Ulcerative colitis Acute hepatic failure Hepatocellular carcinoma Thyroiditis Sclerosing cholangitis Amyloidosis Celiac disease Abnormality of the thyroid gland Generalized amyotrophy Inflammation of the large intestine Pleural effusion Portal hypertension Hypoalbuminemia Abnormal eosinophil morphology Vitamin E deficiency Hepatic fibrosis Dilated superficial abdominal veins Pectus excavatum Long philtrum Short nose Anteverted nares Frontal bossing Macrocephaly Scoliosis Adenocarcinoma of the large intestine Recurrent systemic pyogenic infections Cholangiocarcinoma Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Palmar telangiectasia Abnormal biliary tract morphology Vitamin K deficiency Vitamin A deficiency Type I diabetes mellitus Cholestasis Sparse hair Brain atrophy Hyperextensible skin Hyperammonemia Cutis laxa Leukopenia Aminoaciduria Fine hair Aciduria Increased serum lactate Abnormal bleeding Glomerulonephritis Postural instability Recurrent fractures Coma Metabolic acidosis Nausea Stage 5 chronic kidney disease Nausea and vomiting Malabsorption Systemic lupus erythematosus Abnormality of the coagulation cascade Pruritus Ornithinuria Scarring Weight loss Abdominal pain Encephalopathy Depressivity Pain Asterixis Argininuria Protein avoidance Malnutrition Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Glomerulopathy Truncal obesity Deposits immunoreactive to beta-amyloid protein



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Brachycephaly, related diseases and genetic alterations Arthritis and Cerebellar atrophy, related diseases and genetic alterations Hyperreflexia and Triangular face, related diseases and genetic alterations Lymphoma and Ulcerative colitis, related diseases and genetic alterations Obesity and Intestinal malrotation, related diseases and genetic alterations Anemia and Hypertriglyceridemia, related diseases and genetic alterations

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