Generalized hypotonia, and Nephropathy

Diseases related with Generalized hypotonia and Nephropathy

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

Top matches:

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

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

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Nephropathy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Nephropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Muscular hypotonia Cognitive impairment Vomiting Dehydration Fatigue Failure to thrive Choreoathetosis Fever Anemia Hypertension Metabolic acidosis Stage 5 chronic kidney disease Short stature Muscle weakness Pain

Rare Symptoms - Less than 30% cases

Jaundice Confusion Diarrhea Abdominal pain Tachycardia Postural instability Microcephaly Nausea and vomiting Rigidity Lactic acidosis Hyperammonemia Arrhythmia Ketonuria Stereotypy Elevated hepatic transaminase Oral-pharyngeal dysphagia Hip dysplasia Nephronophthisis Scoliosis Motor delay Dysarthria Acidosis Hepatomegaly Tubulointerstitial nephritis Behavioral abnormality Optic atrophy Oculomotor apraxia Gait disturbance Cardiomyopathy Hearing impairment Abnormality of eye movement Abnormality of the eye Delayed speech and language development Rhabdomyolysis Cardiac arrest Apraxia Aggressive behavior Ichthyosis Ptosis Ventricular tachycardia Strabismus Nephritis Renal potassium wasting Abnormality of the dentition Abnormality of the skeletal system Nocturia Hypochloremia Pectus excavatum Pneumonia Rod-cone dystrophy Gait ataxia Protruding ear Craniosynostosis Hypermetropia Narrow chest Smooth philtrum Frontal bossing Joint hypermobility Hypokalemic metabolic alkalosis Hypokalemic alkalosis Thin vermilion border Short distal phalanx of finger Hypocalciuria Full cheeks Asthma Renal magnesium wasting Salt craving Brachydactyly Clonus Hypothyroidism Hypoglycemia Hypertrophic cardiomyopathy Elevated serum creatine phosphokinase Neurodegeneration Encephalopathy Absent speech Limb undergrowth Abnormal cerebellum morphology Cerebral atrophy Increased serum lactate Spastic tetraplegia Drooling Premature thelarche Sensorineural hearing impairment Ventricular fibrillation Myopathic facies Spastic diplegia Hyperactive deep tendon reflexes Myoglobinuria Poor coordination Torsade de pointes Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Ectodermal dysplasia Thrombocytopenia Hepatic fibrosis Anteverted nares Prominent nasal bridge Apnea Low-set, posteriorly rotated ears Agenesis of corpus callosum Abnormality of cardiovascular system morphology Hydrocephalus Tremor Long face Feeding difficulties Cleft palate Nystagmus Metabolic ketoacidosis Chronic metabolic acidosis Cerebellar hemorrhage Oral cleft Polymicrogyria Tubulointerstitial abnormality Molar tooth sign on MRI Elongated superior cerebellar peduncle Hypometric saccades Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Breathing dysregulation Biparietal narrowing Hand polydactyly Iris coloboma Delayed gross motor development Aganglionic megacolon Encephalocele Cerebellar vermis hypoplasia Highly arched eyebrow Retinal dystrophy Abnormal globus pallidus morphology Methylmalonic acidemia Bone marrow hypocellularity Broad distal phalanx of finger Pollakisuria Immunodeficiency Respiratory distress Respiratory insufficiency Broad phalanx of the toes Pes valgus Sagittal craniosynostosis Abnormality of the kidney Elevated serum creatinine Cutaneous finger syndactyly Chronic kidney disease Cone/cone-rod dystrophy Cutis laxa Recurrent pneumonia Diabetes mellitus Stroke Hyperglycinemia Leukopenia Homocystinuria Methylmalonic aciduria Organic aciduria Delayed CNS myelination Macrocytic anemia Ischemic stroke Spastic tetraparesis Neurological speech impairment Pancreatitis Paraparesis Tetraparesis Pancytopenia Aciduria Coma Lethargy Hypovolemia Nausea Periodic paralysis Intermittent jaundice Cough Hemolytic anemia Hepatic steatosis Hydrops fetalis Hyperbilirubinemia Brittle hair Abnormality of mitochondrial metabolism Pulmonary fibrosis Increased antibody level in blood Reticulocytosis Anisocytosis Spherocytosis Poikilocytosis Stomatocytosis Sideroblastic anemia Respiratory tract infection Congenital hemolytic anemia Increased red cell osmotic fragility Increased intracellular sodium Low-set ears Ventricular septal defect Arthrogryposis multiplex congenita Sloping forehead Nephrocalcinosis Lissencephaly Renal tubular acidosis Right ventricular hypertrophy Conjugated hyperbilirubinemia Cholestatic liver disease Nephrogenic diabetes insipidus Pallor Hepatosplenomegaly Talipes calcaneovalgus Hyperactivity Difficulty walking Muscular hypotonia of the trunk Developmental regression Falls Dyskinesia Frequent falls Amblyopia Truncal ataxia Hyperkalemia Limb hypertonia Loss of speech Hyperechogenic kidneys Camptocormia Neoplasm EEG abnormality Splenomegaly Proteinuria Sleep disturbance Status epilepticus Hemiparesis Severe muscular hypotonia Schizophrenia Nephroblastoma Bruxism Motor deterioration Hyperglycinuria Hydroxyprolinuria Prolinuria Hyperprolinemia Edema Giant cell hepatitis Spasticity Increased circulating renin level Hyperkinesis Constipation Arthralgia Anxiety Erythema Paralysis Delayed puberty Paresthesia Vertigo Muscle cramps Generalized muscle weakness Hypotension Palpitations Inflammatory abnormality of the skin Ventricular arrhythmia Hypokalemia Podagra Hypercalciuria Polydipsia Polyuria Blurred vision Prolonged QT interval Episodic fever Hyperventilation Hypomagnesemia Renal salt wasting Alkalosis Chondrocalcinosis Enuresis Tetany Metabolic alkalosis Growth delay Bladder stones Flexion contracture Nephrolithiasis Hyperreflexia Dysphagia Hypertonia Intellectual disability, mild Clinodactyly Clinodactyly of the 5th finger Arthritis Irritability Hip dislocation Hematuria Chorea Abnormality of extrapyramidal motor function Clumsiness Recurrent urinary tract infections Spastic gait Excessive purine production Gout Hyperuricosuria Facial grimacing Testicular atrophy Focal dystonia Dyslexia Megaloblastic anemia Self-mutilation Finger clinodactyly Hyperuricemia Opisthotonus Athetosis Proximal placement of thumb Self-injurious behavior Cerebral palsy Thickened superior cerebellar peduncle


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