Edema, and Areflexia

Diseases related with Edema and Areflexia

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

Top matches:

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

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

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Other less relevant matches:

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Low match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

NAVAJO NEUROHEPATOPATHY Is also known as nnh|navajo neurohepatopathy|nn|navajo neuropathy

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NAVAJO NEUROHEPATOPATHY

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Low match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Top 5 symptoms//phenotypes associated to Edema and Areflexia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Areflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Respiratory insufficiency Hypoglycemia Apnea Hyporeflexia Peripheral neuropathy Muscle weakness Intellectual disability Feeding difficulties in infancy Respiratory failure Cardiomyopathy Microcephaly Hepatic failure Agenesis of corpus callosum Blindness

Rare Symptoms - Less than 30% cases

Feeding difficulties Flexion contracture Type I transferrin isoform profile Acidosis Dystonia Decreased number of peripheral myelinated nerve fibers Diarrhea Hyperammonemia Vomiting Motor delay Dilated cardiomyopathy Hyperreflexia Micrognathia Congestive heart failure Pain Frequent falls Myopathy Intellectual disability, severe Strabismus Muscular hypotonia of the trunk Arthrogryposis multiplex congenita Cerebellar atrophy Visual loss Nystagmus Abnormality of the amniotic fluid Increased body weight Cerebral cortical atrophy Metabolic acidosis Cholestasis Hypertrophic cardiomyopathy Infantile muscular hypotonia Lethargy Lactic acidosis Severe global developmental delay Nephrotic syndrome Abnormality of the liver Pes cavus Jaundice Falls Distal muscle weakness Limb muscle weakness Elevated hepatic transaminase Sensory neuropathy Hepatomegaly Growth delay Pigmentary retinopathy Recurrent myoglobinuria Hydrops fetalis Exercise intolerance Prenatal maternal abnormality Myoglobinuria Hypoketotic hypoglycemia Scoliosis Rhabdomyolysis Demyelinating peripheral neuropathy Muscle cramps Retinal dystrophy Reye syndrome-like episodes Osteomyelitis leading to amputation due to slow healing fractures Hearing impairment Sensorineural hearing impairment Skeletal muscle atrophy Optic atrophy Hypoplasia of the corpus callosum Encephalopathy Abnormality of the eye Pallor Abnormality of eye movement Retinal degeneration Generalized-onset seizure Small for gestational age Progressive microcephaly Bradycardia Progressive hearing impairment Athetosis Hyperglycemia Muscle fibrillation Poor eye contact Central apnea Vegetative state Arrhythmia Elevated serum creatine phosphokinase Myalgia High palate Paralysis Dysphagia Late-onset distal muscle weakness Thin ribs Hypoventilation EMG: neuropathic changes Facial diplegia Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Breech presentation Slender build Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Hypertelorism Bulbar palsy Hypertension Intrauterine growth retardation Splenomegaly Cerebral atrophy Hypogonadism Hepatosplenomegaly Thin vermilion border Nephropathy Ascites Large fontanelles Portal hypertension Abnormality of coagulation Abnormality of immune system physiology Nonimmune hydrops fetalis Spinal rigidity Mildly elevated creatine phosphokinase Abnormality of the skeletal system Cough Respiratory distress Hypertonia Pectus excavatum Recurrent respiratory infections Polyhydramnios Retrognathia Rigidity Neonatal hypotonia Proximal muscle weakness Facial palsy Hyperlordosis Respiratory tract infection Painless fractures due to injury Genu valgum Myopathic facies Pulmonary hypoplasia Generalized muscle weakness Waddling gait Decreased fetal movement Joint contracture of the hand Narrow face Foot dorsiflexor weakness Knee flexion contracture Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Congenital contracture Akinesia Myotonia Mask-like facies Endometriosis Elevated serum transaminases during infections Acral ulceration Hirsutism Steppage gait Focal segmental glomerulosclerosis Axonal degeneration Onion bulb formation Sensory ataxia Segmental peripheral demyelination/remyelination Peripheral axonal degeneration Segmental peripheral demyelination Abnormal facial shape Short neck Cerebellar hypoplasia Full cheeks Peripheral demyelination Lymphedema Lissencephaly Centrally nucleated skeletal muscle fibers Hand clenching Agyria Spasticity Gastroesophageal reflux Irritability Stroke Abnormality of movement Nausea Coma Glomerulosclerosis Sensory impairment Gliosis Congenital nephrotic syndrome Visual impairment Renal insufficiency Proteinuria Abnormality of the nervous system Stage 5 chronic kidney disease Severe muscular hypotonia Neurodevelopmental delay Severe vision loss Hypoplasia of the iris Hypoproteinemia Buphthalmos Diffuse mesangial sclerosis Lenticonus Neutropenia Microcoria Posterior lenticonus Hypoplasia of the ciliary body Cataract Gait disturbance Gait ataxia Abnormality of the foot Lower limb muscle weakness Paresthesia Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Tetraplegia Brain atrophy Corneal ulceration Hepatic steatosis Alopecia of scalp Hyperinsulinemic hypoglycemia Protein-losing enteropathy Frontal balding Increased serum testosterone level Reduced antithrombin III activity Reduced factor XI activity Short stature Developmental regression Abnormality of the cerebral white matter Cirrhosis Progressive neurologic deterioration Polycystic ovaries Decreased liver function Sensorimotor neuropathy Increased susceptibility to fractures Prolonged neonatal jaundice Abnormality of the immune system Arthropathy Acute hepatic failure Recurrent corneal erosions Periventricular leukomalacia Pain insensitivity Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Partial agenesis of the corpus callosum Abnormal intestine morphology Aciduria Abnormality of the cerebral vasculature Focal-onset seizure Intellectual disability, profound Hemiparesis Involuntary movements Leukodystrophy Cerebral palsy Failure to thrive in infancy Opisthotonus Poor appetite Drowsiness Ketoacidosis Ketonuria Organic aciduria Cerebral visual impairment Neutrophilia Acute hepatic steatosis Episodic metabolic acidosis Acute hyperammonemia Abnormality of leucine metabolism Dysarthria Tremor Recurrent infections Hypermetropia Dysmetria Intention tremor Broad-based gait Budd-Chiari syndrome


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Tapered finger, related diseases and genetic alterations Optic atrophy and Premature birth, related diseases and genetic alterations Hyperreflexia and Hemolytic anemia, related diseases and genetic alterations Brachydactyly and Ischemic stroke, related diseases and genetic alterations Brachydactyly and Arrhythmia, related diseases and genetic alterations Melanoma and Paresthesia, related diseases and genetic alterations