Autoimmunity, and Spinal muscular atrophy

Diseases related with Autoimmunity and Spinal muscular atrophy

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


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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

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

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Other less relevant matches:

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 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 ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2


Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2 Is also known as sma-ii|sma type 2|intermediate spinal muscular atrophy|chronic spinal muscular atrophy|sma ii|muscular atrophy, spinal, intermediate type|sma2|muscular atrophy, spinal, infantile chronic form|sma type ii|chronic infantile spinal muscular atrophy

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Skeletal muscle atrophy
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2

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 HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE


Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

Low match SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY


SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY Is also known as scapuloperoneal neuronopathy|neurogenic scapuloperoneal amyotrophy, new england type|spsma

Related symptoms:

  • Spinal muscular atrophy
  • Peroneal muscle atrophy
  • Scapular muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY

Top 5 symptoms//phenotypes associated to Autoimmunity and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Splenomegaly Jaundice Hepatomegaly Recurrent respiratory infections

Rare Symptoms - Less than 30% cases


Pancreatitis Cirrhosis Osteopenia Renal insufficiency Osteoporosis Delayed skeletal maturation Thrombocytopenia Pneumonia Diarrhea Respiratory insufficiency Muscular hypotonia Scarring Anemia Degeneration of anterior horn cells Telangiectasia Neoplasm Scoliosis Global developmental delay Pectus excavatum Macrotia Lymphoma Cachexia Hand tremor Bulbar palsy Pes cavus Areflexia Dysphagia Seizures Tremor Ataxia Micrognathia Hemolytic anemia Hepatitis Fever Fatigue Ascites Respiratory failure Elevated hepatic transaminase Increased serum ferritin Abnormality of the liver Cholelithiasis Epiphora Decreased number of peripheral myelinated nerve fibers Sparse eyebrow Abnormality of lipid metabolism Inflammatory abnormality of the skin Gait disturbance Proximal amyotrophy Ichthyosis Aplasia/Hypoplasia of the skin Papule Erythema Bulbar signs Arthritis Alopecia Neoplasm of the adrenal cortex Hypotrichosis Mildly elevated creatine phosphokinase Atopic dermatitis Abnormality of the skeletal system Growth delay Microcephaly Sensory axonal neuropathy Tongue fasciculations EMG abnormality Progressive muscle weakness Hip dislocation Amyotrophic lateral sclerosis Absent eyelashes Abnormal perifollicular morphology Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Uterine neoplasm Axonal degeneration Abnormal large intestine morphology Neoplasm of the breast Abdominal wall muscle weakness Wide nose Lymphedema Areflexia of lower limbs Tall stature Subcutaneous nodule Broad thumb Atrophy of the spinal cord Nevus Joint hyperflexibility Delayed gross motor development Dolichocephaly Neurological speech impairment Hypoglycemia Long philtrum Short nose Myopathy Peroneal muscle atrophy Narrow palate Intracranial hemorrhage Subcutaneous hemorrhage Arteriovenous malformation Hamartomatous polyposis Depressed nasal bridge Visceral angiomatosis Intestinal polyposis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Meningioma Aortic aneurysm Capillary hemangioma Lipoma Hashimoto thyroiditis Irregular hyperpigmentation Hamartoma Multiple cafe-au-lait spots Multiple lipomas Cutis marmorata Cleft palate Intrauterine growth retardation Elevated serum creatine phosphokinase Recurrent sinopulmonary infections B lymphocytopenia Peripheral demyelination Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma B-cell lymphoma T-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Fasciculations Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Neuroblastoma Pollakisuria Recurrent infection of the gastrointestinal tract Abnormality of the musculature Sensory neuropathy Babinski sign Peripheral neuropathy Progressive vitiligo Diabetes mellitus Distal muscle weakness Mastoiditis Peripheral axonal neuropathy Distal sensory impairment Malar prominence Anorectal anomaly Dysgammaglobulinemia Polyneuropathy Muscle cramps Tetraplegia Gliosis Sensory impairment Penoscrotal hypospadias Neuronal loss in central nervous system Autoimmune hemolytic anemia Freckling Short neck Mental deterioration Prominent nose Neurodegeneration Cleft upper lip Anal atresia Leukemia Small for gestational age Prominent nasal bridge Attention deficit hyperactivity disorder Intellectual disability, moderate Anteverted nares Abnormality of the nervous system Hydronephrosis Retrognathia Hyperactivity Upslanted palpebral fissure Myotonia Hypospadias Immunodeficiency Otitis media Hyperlipidemia Long nose Abnormality of the hair Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Recurrent pneumonia Low anterior hairline Lymphopenia Sinusitis Amenorrhea Cafe-au-lait spot Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Convex nasal ridge Muscle fiber atrophy Frontal bossing Systemic lupus erythematosus Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Glomerulopathy Truncal obesity Malnutrition Abnormality of the coagulation cascade Glomerulonephritis Hyperextensible skin Alveolar proteinosis Hyperammonemia Cutis laxa Leukopenia Aminoaciduria Fine hair Aciduria Increased serum lactate Brain atrophy Psychotic episodes Oroticaciduria Postural instability Weight loss Portal hypertension Hypoalbuminemia Type I diabetes mellitus Hepatic fibrosis Cholestasis Pruritus Hepatosplenomegaly Abdominal pain Pulmonary hemorrhage Encephalopathy Depressivity Congestive heart failure Hypertension Pain Asterixis Argininuria Ornithinuria Protein avoidance Abnormal bleeding Recurrent fractures Inflammation of the large intestine Reticulocytosis Hemoglobinuria Stomatocytosis Intermittent jaundice Gastritis Elliptocytosis Spherocytosis Generalized edema Esophageal varix Thromboembolism Chronic hemolytic anemia Pericardial effusion Hyperkalemia Limb-girdle muscular dystrophy Hyperbilirubinemia Dehydration Muscular dystrophy Pallor Edema Antiphospholipid antibody positivity Portal vein thrombosis Coma Intellectual disability, severe Metabolic acidosis Nausea Stage 5 chronic kidney disease Nausea and vomiting Malabsorption Sparse hair Acidosis Vomiting Cognitive impairment Compensated hemolytic anemia 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 Schistocytosis Pleural effusion Generalized amyotrophy Macrocephaly EMG: myopathic abnormalities Spinal rigidity Toe walking Stridor Nasal speech Poor suck Dysphonia Easy fatigability Poor head control Microretrognathia Fatigable weakness Congenital hip dislocation Diplopia Decreased fetal movement Cyanosis Waddling gait Esotropia Generalized muscle weakness Distal amyotrophy Weak cry Neck muscle weakness Ophthalmoplegia Nasal regurgitation Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Central hypotonia Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Long face Arthrogryposis multiplex congenita Abnormality of the thyroid gland Prolonged prothrombin time Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Histiocytosis Cholangitis Abnormal biliary tract morphology Cholestatic liver disease Ulcerative colitis Acute hepatic failure Hepatocellular carcinoma Uveitis Thyroiditis Amyloidosis Celiac disease Chronic hepatic failure Palmar telangiectasia Pectus carinatum Low-set ears Joint laxity Difficulty walking Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Hyporeflexia Motor delay High palate Ptosis Elevated alkaline phosphatase of hepatic origin Sensorineural hearing impairment Nystagmus Adenocarcinoma of the large intestine Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Scapular muscle atrophy



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