Arthritis, and Lactic acidosis

Diseases related with Arthritis and Lactic acidosis

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


Top matches:

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

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Other less relevant matches:

Low match MEDULLARY SPONGE KIDNEY


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Low match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Top 5 symptoms//phenotypes associated to Arthritis and Lactic acidosis

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hematuria Renal insufficiency Hyperuricemia Gout Nephrolithiasis Decreased glomerular filtration rate Recurrent infections Delayed puberty Hypercalciuria Hypoglycemia Failure to thrive Hepatomegaly Osteoporosis Growth delay Chronic kidney disease Short stature Xanthelasma Hyperlipidemia Hepatocellular carcinoma Focal segmental glomerulosclerosis Xanthomatosis Metabolic acidosis

Rare Symptoms - Less than 30% cases


Distal renal tubular acidosis Renal tubular acidosis Juvenile rheumatoid arthritis Hypocitraturia Pain Polydipsia Glomerulosclerosis Nephritis Polyuria Feeding difficulties in infancy Thrombocytopenia Immunodeficiency Sensorineural hearing impairment Autoimmunity Decreased methylcobalamin Megaloblastic anemia Macrocytic anemia Recurrent urinary tract infections Methylmalonic acidemia Muscle weakness Nephrocalcinosis Intellectual disability Hearing impairment Pancytopenia Rheumatoid arthritis Neutropenia Chronic pancreatitis Pancreatitis Elevated hepatic transaminase Abnormal bleeding Muscular hypotonia Hepatoblastoma Diarrhea Protuberant abdomen Enlarged kidney Nephropathy Doll-like facies Lipemia retinalis Hepatitis Lymphopenia Leukopenia Combined immunodeficiency Renal magnesium wasting Thrombocytosis Hypoparathyroidism Severe combined immunodeficiency Antinuclear antibody positivity Renal potassium wasting Hemolytic-uremic syndrome Folate deficiency Asthenia Septic arthritis Thiamine-responsive megaloblastic anemia Global developmental delay Hyposthenuria Anisocytosis Pallor Bilateral sensorineural hearing impairment Decreased cervical spine mobility Spondyloepiphyseal dysplasia Arthropathy Joint swelling Renal calcium wasting Abnormality of the knee Synovitis Flattened epiphysis Enlarged epiphyses Sclerotic vertebral endplates Enlarged interphalangeal joints Decreased antibody level in blood Enlargement of the proximal femoral epiphysis Morbus Scheuermann Enlarged metacarpophalangeal joints Medullary nephrocalcinosis Hypermagnesiuria Fever Vomiting Intellectual disability, mild Pneumonia Retinopathy Generalized hypotonia Low-set ears Ataxia Infertility Tetany Cystathioninemia Chondrocalcinosis Nystagmus Strabismus Myopia Arrhythmia Abdominal pain Hypermetropia Malabsorption Astigmatism Decreased methionine synthase activity Paresthesia Enuresis Gingival overgrowth Hypocalcemia Male infertility Oligospermia Acute kidney injury Hypomagnesemia Abnormality of lipid metabolism Amelogenesis imperfecta Metaphyseal widening Decreased adenosylcobalamin Ankylosis Lethargy High palate Feeding difficulties Epicanthus Abnormal heart morphology Thin upper lip vermilion Chorioretinitis Developmental regression Skin rash Microtia Small for gestational age Aciduria Megaloblastic bone marrow Abnormality of the skin Psychosis Incoordination Stomatitis Methylmalonic aciduria Enuresis nocturna Persistence of primary teeth Homocystinuria Glossitis Hyperhomocystinemia Cystathioninuria Villous atrophy Genu varum Hypotension Pyelonephritis Hypoglycemic seizures Microalbuminuria Intermittent diarrhea Chronic hepatitis Hepatocellular adenoma Cerebral cortical atrophy Abnormality of the kidney Stage 5 chronic kidney disease Renal cyst Renal hypoplasia Skeletal myopathy Polycystic kidney dysplasia Nephronophthisis Elevated serum creatinine Tubulointerstitial nephritis Fair hair Renal salt wasting Tubular atrophy Hemihypertrophy Thin bony cortex Tubulointerstitial fibrosis Tubulointerstitial abnormality Enterocolitis Fasting hypoglycemia Flank pain Osteopenia Pulmonary arterial hypertension Spider hemangioma Ketonemia Recurrent bacterial infections Inflammation of the large intestine Oral ulcer Neoplasm Cognitive impairment Myopathy Recurrent respiratory infections Carcinoma Breathing dysregulation Hepatic failure Full cheeks Epistaxis Hypertriglyceridemia Atherosclerosis Venous thrombosis Elevated alkaline phosphatase Portal hypertension Decreased muscle mass Prolonged bleeding time Neoplasm of the liver Renal cortical cysts Renal corticomedullary cysts Short long bone Skeletal dysplasia Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Scoliosis Flexion contracture Gait disturbance Kyphosis Severe short stature Kyphoscoliosis Arthralgia Ketoacidosis Difficulty walking Camptodactyly Joint stiffness Camptodactyly of finger Platyspondyly Abnormality of the foot Waddling gait Interphalangeal joint contracture of finger Osteoarthritis Abnormal form of the vertebral bodies Coxa vara Immune dysregulation Thyroiditis Multiple small medullary renal cysts Sepsis Tubular basement membrane disintegration Global glomerulosclerosis Pyuria Impaired renal uric acid clearance Renal cortical atrophy Intrauterine growth retardation Diabetes mellitus Hypothyroidism Lymphadenopathy Hemolytic anemia Eczema Autoimmune hemolytic anemia Nephrotic syndrome Inflammatory abnormality of the skin Cardiac arrest Type I diabetes mellitus Abnormal intestine morphology Eosinophilia Erythroderma Hyperglycemia Abnormality of the coagulation cascade Malnutrition Abnormality of the thyroid gland Impaired urinary acidification



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