Muscular hypotonia, and Hematuria

Diseases related with Muscular hypotonia and Hematuria

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Hematuria that can help you solving undiagnosed cases.


Top matches:

Medium match PRIMARY CD59 DEFICIENCY


Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY CD59 DEFICIENCY

Medium match SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME


Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Medium match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

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Other less relevant matches:

Medium match PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS


Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

Medium match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Medium 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

Medium match GAUCHER DISEASE, TYPE I


Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Medium match CYSTINOSIS, NEPHROPATHIC; CTNS


Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Hematuria

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscular hypotonia and Hematuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Intellectual disability Hypertension Nephrolithiasis Strabismus Chronic kidney disease Global developmental delay Nephropathy Cognitive impairment Growth delay Muscle weakness Microscopic hematuria Feeding difficulties Stage 5 chronic kidney disease Oral-pharyngeal dysphagia Arthritis Glomerulosclerosis Abnormal facial shape Delayed puberty Ataxia Hepatomegaly Pain Cataract Focal segmental glomerulosclerosis Retinopathy Hemolytic-uremic syndrome Vomiting Dysphagia Spasticity

Rare Symptoms - Less than 30% cases


Dystonia Gout Megaloblastic anemia Glycosuria Tubular atrophy Hyperuricosuria Hyperreflexia Flexion contracture Delayed speech and language development Hyperuricemia Irritability Recurrent urinary tract infections Abnormality of extrapyramidal motor function Chorea Hip dislocation Hypertonia Epistaxis Myopathy Aspiration pneumonia Macrotia Cerebral cortical atrophy Hydrocephalus Visual impairment Low-set ears Nystagmus Microcephaly Pigmentary retinopathy Memory impairment Hypopigmentation of the skin Abnormality of skin pigmentation Confusion Hypothyroidism Cerebral atrophy Hyperkinesis Recurrent respiratory infections Splenomegaly Osteoporosis Acidosis Metabolic acidosis Atherosclerosis Failure to thrive Edema Thrombocytopenia Aspiration Delayed skeletal maturation Pneumonia Dementia Mental deterioration Pancytopenia Pulmonary arterial hypertension Rickets Abnormality of the eye Hypercalciuria Aciduria Diarrhea Abnormality of the skeletal system Tremor Macrocephaly Gastroesophageal reflux Skeletal muscle atrophy Poor speech Respiratory insufficiency Midface retrusion Intellectual disability, severe Hypertelorism Intellectual disability, mild Broad-based gait Abnormality of the kidney Difficulty walking Scoliosis Nephrocalcinosis Bone pain Hearing impairment Hemolytic anemia Decreased methionine synthase activity Abnormality of retinal pigmentation Anorexia Decreased adenosylcobalamin Psychosis Vitamin B12 deficiency Urinary incontinence Hyperhomocystinemia Neutropenia Hepatic steatosis Joint hypermobility Cystathioninuria Hypomethioninemia Slurred speech Ectopia lentis Hemiplegia Cor pulmonale Atrophy of the spinal cord Right ventricular failure Gastritis Chronic hemolytic anemia Myelopathy Homocystinuria Methylmalonic aciduria Abnormality of macular pigmentation Methylmalonic acidemia Retinal degeneration Thromboembolism Disproportionate tall stature Delirium Apathy Urogenital fistula Decreased methylcobalamin Long face Congenital cataract Paresthesia Male hypogonadism Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Decreased plasma carnitine Heat intolerance Rachitic rosary Preeclampsia Flushing Exocrine pancreatic insufficiency Hypopigmentation of hair Male infertility Polyuria Hyponatremia Metaphyseal widening Retinal pigment epithelial mottling Episodic metabolic acidosis Unsteady gait Gait ataxia Smooth philtrum Lower limb muscle weakness Malabsorption Diffuse hepatic steatosis Lethargy Feeding difficulties in infancy High forehead Reduced visual acuity Weight loss Oral motor hypotonia Depressivity Congestive heart failure Areflexia Hyporeflexia Respiratory failure Pallor Paralysis Elevated intracellular cystine Decreased methylmalonyl-CoA mutase activity Epicanthus Cystathioninemia Adducted thumb Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Flat occiput Hypoplasia of the brainstem Hypoalbuminemia Lissencephaly Hypoplasia of the iris Severe muscular hypotonia Opacification of the corneal stroma Joint contracture of the hand Progressive microcephaly Postnatal microcephaly Heterotopia Pachygyria Small nail Hypsarrhythmia Proportionate short stature Hiatus hernia Nephrotic syndrome Diffuse mesangial sclerosis Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diaphragmatic eventration Adrenal hypoplasia Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Esophagitis Mild microcephaly Spastic tetraplegia Hypotelorism Thyroglossal cyst Abnormality of the dentition Muscular hypotonia of the trunk EEG abnormality Pes cavus Cerebellar hypoplasia Hernia Absent speech Dilatation Microphthalmia Cerebellar atrophy Wide mouth Hypoplasia of the corpus callosum Ventriculomegaly Talipes equinovarus Optic atrophy Intrauterine growth retardation Failure to thrive in infancy High palate Ptosis Micrognathia Camptodactyly Camptodactyly of finger Oligohydramnios Gliosis Narrow forehead Sloping forehead Dandy-Walker malformation Prominent nose Premature birth Delayed myelination Limitation of joint mobility Brain atrophy Tetraplegia Prominent nasal bridge Ascites Sleep disturbance Inability to walk Arachnodactyly Talipes Abnormality of eye movement Abnormality of the foot Severe global developmental delay Small for gestational age Polydipsia Genu valgum Hypohidrosis Thin vermilion border Bladder stones Excessive purine production Facial grimacing Testicular atrophy Focal dystonia Dyslexia Patent ductus arteriosus Self-mutilation Neoplasm Thick vermilion border Opisthotonus Athetosis Proximal placement of thumb Tapered finger Self-injurious behavior Cerebral palsy Finger clinodactyly Podagra Malar flattening Stereotypy Hepatic failure Hypoplastic philtrum Pancreatitis Hyperlipidemia Hypertriglyceridemia Hepatitis Full cheeks Abnormal bleeding Sensorineural hearing impairment Lactic acidosis Recurrent infections Depressed nasal bridge Carcinoma Elevated hepatic transaminase Hypoglycemia Osteopenia Myopia Downslanted palpebral fissures Anteverted nares Spastic gait Abnormality of the metaphysis Elevated alkaline phosphatase Proximal tubulopathy Enlargement of the ankles Sparse bone trabeculae Bulging epiphyses Low-molecular-weight proteinuria Enlargement of the wrists Enlarged epiphyses Renal phosphate wasting Tubulointerstitial fibrosis Thin bony cortex Renal hypophosphatemia Hyperphosphaturia Abnormality of the lower limb Mild global developmental delay Delayed epiphyseal ossification Osteomalacia Aminoaciduria Hypophosphatemia Bowing of the legs Increased serum 1,25-dihydroxyvitamin D3 Non-acidotic proximal tubulopathy Clumsiness Rigidity Choreoathetosis Abnormality of the hair Nephritis Glomerulopathy Increased number of teeth Abnormal aortic valve morphology Aggressive behavior Elliptocytosis Clinodactyly of the 5th finger Recurrent fractures Clinodactyly Craniopharyngioma Behavioral abnormality Erythrocyte cylindruria Elevated serum creatine phosphokinase Dysarthria Abdominal pain Motor delay Venous thrombosis Portal hypertension Progressive neurologic deterioration Pericardial effusion Multiple myeloma Chronic fatigue Vertebral compression fractures Pulmonary infiltrates Aseptic necrosis Macular atrophy Pathologic fracture Interstitial pulmonary abnormality Hypersplenism Increased antibody level in blood Stridor Increased susceptibility to fractures Cryptorchidism Shock Osteolysis Increased bone mineral density Hydrops fetalis Abnormal myocardium morphology Vertical supranuclear gaze palsy Abnormal lung morphology Hemoglobinuria Limb muscle weakness Dehydration Cerebral calcification Generalized muscle weakness Polyneuropathy Peripheral demyelination Increased CSF protein Metaphyseal irregularity Photophobia Aortic valve calcification Paroxysmal nocturnal hemoglobinuria Diabetes mellitus Hypogonadism Blindness Frontal bossing Fever Erlenmeyer flask deformity of the femurs Mitral valve calcification Hyperpigmentation of the skin Generalized myoclonic seizures Decreased muscle mass Skeletal myopathy Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Pyelonephritis Enterocolitis Fasting hypoglycemia Chronic pancreatitis Breathing dysregulation Neoplasm of the liver Xanthomatosis Enlarged kidney Hepatocellular carcinoma Protuberant abdomen Renal tubular acidosis Prolonged bleeding time Chronic hepatitis Distal renal tubular acidosis Bruising susceptibility Intestinal malrotation Ophthalmoplegia Neurological speech impairment Ventricular septal defect Hepatosplenomegaly Dyspnea Constipation Coarse facial features Encephalopathy Status epilepticus Lipemia retinalis Respiratory distress Fatigue Gait disturbance Hemiparesis Overlapping toe Hypocitraturia Hepatocellular adenoma Doll-like facies Projectile vomiting



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