Symptomatic cases present during metabolic decompensation with acidosis, ketosis, increased anion gap, hyperlactatemia, hyperglycinemia, hyperammonemia, hypoglycemia and cytopenias
[orpha.net]
Patients with obstructive jaundice will excrete bile pigments such as bilirubin, and the urine will be yellow–brown to yellow–green in color.
[mbtshoeswomen.us]
Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.
[ncbi.nlm.nih.gov]
Recurrent hypoglycemia often leads to neurological symptoms. Developmental delay is seen in a number of GSD 0 patients and is probably associated with these periods of hypoglycemia
[slideshare.net]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24(1): 15–25.
[link.springer.com]
Diagnostic workup revealed hypoglycemia as well as a cerebral edema and ruled out an infection.
[pubmed.ncbi.nlm.nih.gov]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
Many children develop normally despite episodes of hypoglycemia. The course of this disorder can be very rapid, however, if hypoglycemia is not treated.
[rarediseases.org]
Hypoglycemia, secondarily to hyperinsulinism, was controlled with diazoxide.
[digitalcommons.hsc.unt.edu]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
We suggest to test for DK1-CDG in patients with dilated cardiomyopathy.
[link.springer.com]
References Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
[wikigenes.org]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. {38:Marques-da-Silva et al. (2017)} noted that CDG1A is
[diseaseinfosearch.org]
Continued fluid and electrolyte imbalances and inefficient metabolism of nutrients produce ascites, hypoglycemia, and hypoproteinemia.
[medical-dictionary.thefreedictionary.com]
[…] to fibrosis Surface & cut section : micronodular cirrhosis Colour : green bile stained Serum Elevated cholebilirubin (obstructive jaundice ) Elevated cholebilirubin & autoantibodies
[gen9mdforum.forumegypt.net]
[…] telangiectasia (HHT) with aneurysms in the splanchnic circulation, and was assumed to have secondary biliary cirrhosis with portal hypertension and hypertrophic obstructive cardiomyopathy
[ncbi.nlm.nih.gov]
This is great news for people suffering from diabetes and hypoglycemia, as Alpha Lipoic Acid (or ALA) may improve insulin's ability to chauffeur glucose into the muscles and
[momentumhealth.net]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].
[pubs.sciepub.com]
Hypoglycemia, secondarily to hyperinsulinism, was controlled with diazoxide.
[digitalcommons.hsc.unt.edu]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
Manifestations of CDG range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal
[egl-eurofins.com]
Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Fasting hypoglycemia
[mendelian.co]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
1A Dilated cardiomyopathy 1A Dilated cardiomyopathy 1AA Dilated cardiomyopathy 1BB Dilated cardiomyopathy 1C Dilated cardiomyopathy 1D Dilated cardiomyopathy 1E Dilated cardiomyopathy
[pentacorelab.hu]
Hyperglycemia and Hypoglycemia Hyperglycemia and hypoglycemia are infrequent causes of cataracts in children.
[entokey.com]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a
[globalgenes.org]
[…] testicles, weak muscle tone, delayed bone age, downturned corners of mouth and thin upper lip, hypospadias, high pitched voice, small chin, delayed closure of the fontanel, hypoglycemia
[en.wikipedia.org]
[…] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia
[gsdseq.ir]
Dilated, 1ee MYH6 Cardiomyopathy, Dilated, 1g TTN Cardiomyopathy, Dilated, 1y TPM1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 Cardiomyopathy, Familial Hypertrophic, 14
[selfdecode.com]
Hypoglycemia Generalized seizures Gynecomastia Truncal obesity Large for gestational age Seborrheic dermatitis Hypoketotic hypoglycemia Increased hepatic glycogen content
[mendelian.co]
[…] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia
[gsdseq.ir]
Cardiomyopathy, dilated, 1FF ( TNNI3) Cardiomyopathy, dilated, 1G ( TTN) Cardiomyopathy, dilated, 1GG ( SDHA) Cardiomyopathy, dilated, 1I ( DES) Cardiomyopathy, dilated,
[en.praenatal-medizin.de]
Hypoglycemia, Familial, 4; HHF4 OMIM:609968 Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5 OMIM:606762 Hyperinsulinemic Hypoglycemia, Familial, 6; HHF6 OMIM:610021 Hyperinsulinemic
[informatics.jax.org]
Hypodontia of incisors and premolars Hypofibrinogenemia, familial Hypog-Hypol Hypoglycemia with deficiency of glycogen synthetase in the liver Hypoglycemia Hypogonadism cardiomyopathy
[wikidoc.org]
[…] retinopathy dysmorphism * Hypertrichosis, anterior cervical * Hypertrichotic osteochondrodysplasia * Hypertriglycidemia * Hypertrophic branchial myopathy * Hypertrophic cardiomyopathy
[enacademic.com]
Hyperinsulinemia hypoglycemia [ 256450 ] Gene Disease SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7 [MIM: 610021] HADH Hyperinsulinemic hypoglycemia, familial, 4 [MIM
[compbio.charite.de]
602403 {Alzheimer disease, susceptibility to}, 104300 (3) BLNK 604515 Agammaglobulinemia 4, 613502 (3) BLOC1S3 609762 Hermansky-Pudlak syndrome 8, 614077 (3) BLVRA 109750 Hyperbiliverdinemia
[usegalaxy.org]
Methods and Results— Forty-one patients with hypertrophic cardiomyopathy who had undergone targeted hypertrophic cardiomyopathy genetic testing (either multigene panel or
[circgenetics.ahajournals.org]
1 (HHF1) [MIM: 256450 ] Diabetes mellitus, permanent neonatal (PNDM) [MIM: 606176 ] Transient neonatal diabetes mellitus 2 (TNDM2) [MIM: 610374 ] Leucine-induced hypoglycemia
[sbg.bio.ic.ac.uk]
Cases 401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 4 Cases 168588 Hyperandrogenism due to cortisone reductase deficiency 11 Cases 276405 Hyperbiliverdinemia
[azkurs.org]
Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short
[mendelian.co]
Continued fluid and electrolyte imbalances and inefficient metabolism of nutrients produce ascites, hypoglycemia, and hypoproteinemia.
[medical-dictionary.thefreedictionary.com]
Kayser-Fleischer ring—brown-green ring of copper deposit around the cornea, pathognomonic for Wilson’s disease Nail changes: Muehrcke’s nails—paired horizontal white bands
[aafp.org]
DILATED CARDIOMYOPATHY DCM CONGESTIEVE CARDIOMYOPATHIE CONGESTIVE CARDIOMYOPATHY Zie ook: CARDIOMYOPATHIE CARDIOMYOPATHY RESTRICTIEVE CARDIOMYOPATHIE RCM PERIPARTUM CARDIOMYOPATHY
[catsclem.nl]
[…] type 1 ABCC8 Hyperinsulinemic hypoglycemia type 2 KCNJ11 Hyperinsulinemic hypoglycemia type 3 GCK Hyperinsulinemic hypoglycemia type 6 GLUD1 Hyperinsulinemic hypoglycemia
[centogene.com]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
[…] and Arrhythmogenic right ventricular cardiomyopathy, as well as many others.
[books.google.com]
Low risk for perinatal asphyxia and hypoglycemia.
[cram.com]
Clinical: Jaundice; difficulty in swallowing, speaking, and mastication; extensive muscular rigidity; coarse tremors. Fraunfelder FT, Roy FH.
[dentisty.org]
1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy
[preventiongenetics.com]
Avoid prolonged preoperative fasting because these patients are prone to hypoglycemia. Blood sugar levels should be monitored regularly.
[accessanesthesiology.mhmedical.com]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is a subtype of Naxos disease described in a family with alopecia and right ventricular arrhythmogenic cardiomyopathy
[emedicine.medscape.com]
[…] of infancy, leucine-sensitive Hypoinsulinemic hypoglycemia with hemihypertrophy Hypomagnesemia Hypophosphatasia Hypophosphatemic rickets with hypercalciuria Hypophosphatemic
[qlinics.com]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
[…] tryptophan or lysine metabolism) 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750 DHTKD1 in Cardiomyopathies
[panelapp.genomicsengland.co.uk]
The majority of N-linked CDGs present in infancy, and symptoms may include failure to thrive, developmental delay, liver dysfunction, seizures, hypotonia, hypoglycemia, protein-losing
[preventiongenetics.com]
607091 Ehlers-Danlos syndrome, progeroid form, 130070 Hypercholanemia, familial, 607748 Maple syrup urine disease, type Ia, 248600 Maple syrup urine disease, type Ib, 248600 Hyperbiliverdinemia
[slidedoc.us]
We suggest to test for DK1-CDG in patients with dilated cardiomyopathy.
[paperity.org]
Hypoglycemia MedGen UID: 6979 •Concept ID: C0020615 • Disease or Syndrome A decreased concentration of glucose in the blood.
[ncbi.nlm.nih.gov]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
Cardiomyopathy 1FF Dilated Cardiomyopathy 2A Familial Hypertrophic Cardiomyopathy 7 Familial Restrictive Cardiomyopathy TNNT2 Cardiac Troponin T2 Dilated Cardiomyopathy 1D
[bcm.edu]
[…] atrophy Decreased testicular size Kyphoscoliosis Osteoporosis Small hand Hypogonadism Congenital cataract Proximal muscle weakness Polyneuropathy Sensory neuropathy Dysmetria Hypoglycemia
[mendelian.co]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
LEUCINE-INDUCED 240900 : HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA 240950 : HYPOGONADISM-CATARACT SYNDROME 241000 : HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY
[www5.geometry.net]
Hypoglycemia, Familial, 4; HHF4 OMIM:609968 Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5 OMIM:606762 Hyperinsulinemic Hypoglycemia, Familial, 6; HHF6 OMIM:610021 Hyperinsulinemic
[informatics.jax.org]
A more severe presentation in the neonatal period with little neurological development, severe progressive cardiomyopathy, and early death, is denoted neonatal form.
[ncbi.nlm.nih.gov]
MATERNALLY-INHERITED CARDIOMYOPATHY AND HEARING LOSS Is also known as maternally-inherited cardiomyopathy and deafness; trna-lys-related cardiomyopathy-hearing loss syndrome
[mendelian.co]
Symptoms often precede onset of hypoglycemia.
[genico.ch]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that ...
[kegg.jp]
Illness usually is evident within hours of birth, although some have been diagnosed at a few weeks of age. 6, ,8 Patients have features of liver failure with hypoalbuminemia, hypoglycemia
[pediatrics.aappublications.org]
[…] or odd colored skin (ashen gray green or reddish) • Abdominal pain (upper right quadrant—in area of the liver) • Joint pain • Rapid weight loss • Gall bladder, pancreas or
[irondisorders.org]
Lenihan, Infiltrative Cardiomyopathy and Pericardial Disease, Seminars in Oncology, 40, 2, (199), (2013). Hussam Ghoti, Eliezer A.
[doi.org]
[…] of infancy, leucine-sensitive Hypoinsulinemic hypoglycemia with hemihypertrophy Hypomagnesemia Hypophosphatasia Hypophosphatemic rickets with hypercalciuria Hypophosphatemic
[qlinics.com]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
[…] hypertrophic cardiomyopathy 7 Familial hypertrophic cardiomyopathy 6 Familial hypertrophic cardiomyopathy 4 Familial hypertrophic cardiomyopathy 3 Familial hypertrophic cardiomyopathy
[amp.pharm.mssm.edu]
21932319 2013-08-06 Nail dystrophy integumentary 100 % 21932319 2013-08-06 Weight loss multi 100 % 21932319 2013-08-06 Skin atrophy integumentary 100 % 21932319 2013-08-06 Hypoglycemia
[brain-aging.com]
Maturity onset diabetes of the young, type 11, BLM Bloom syndrome, BLNK Agammaglobulinemia 4, BLOC1S3 Hermansky Pudlak syndrome 8, BLOC1S6 Hermansky pudlak syndrome 9, BLVRA Hyperbiliverdinemia
[healthdocbox.com]
Disease Type of connection Familial isolated dilated cardiomyopathy X-linked Emery-Dreifuss muscular dystrophy Cone rod dystrophy Leber congenital amaurosis Retinitis pigmentosa
[csbg.cnb.csic.es]
Hypoglycemia, Familial, 4; HHF4 OMIM:609968 Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5 OMIM:606762 Hyperinsulinemic Hypoglycemia, Familial, 6; HHF6 OMIM:610021 Hyperinsulinemic
[informatics.jax.org]
Posterior polar cataract Coralliform cataract Autosomal dominant nonsyndromic sensorineural deafness type DFNA Nance-Horan syndrome Wolfram syndrome Familial isolated dilated cardiomyopathy
[csbg.cnb.csic.es]
Cardiomyopathy hypogonadism collagenoma syndrome 0 *Collagen Diseases *Hypogonadism *Cardiomyopathies *Skin Neoplasms.
[reference.md]
[…] growth retardation Short stature Spasticity Rare Symptoms - Less than 30% cases Neutropenia Intellectual disability Lymphadenopathy Bradycardia Respiratory tract infection Hypoglycemia
[mendelian.co]
21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia
[gsdseq.ir]
1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy
[preventiongenetics.com]