Generalized hypotonia, and Abnormality of the kidney

Diseases related with Generalized hypotonia and Abnormality of the kidney

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11

ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD Is also known as acc1 deficiency|acaca deficiency

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD

Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

Other less relevant matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

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

Low match CAD-CDG

CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

CAD-CDG Is also known as cdg syndrome type iz|cdg-iz|congenital disorder of glycosylation, type iz, formerly|congenital disorder of glycosylation type 1z|carbohydrate deficient glycoprotein syndrome type iz|cdg1z|cdg1z, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Encephalopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAD-CDG

Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, {188580}), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 Is also known as hypokalemic periodic paralysis|hokpp

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Myopathy
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hepatomegaly
  • Wide nasal bridge
  • Feeding difficulties in infancy


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Abnormality of the kidney

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Hyperaldosteronism Status epilepticus Renal insufficiency Renal tubular acidosis Acidosis Hypokalemia Proteinuria Polyuria Failure to thrive Hypercalciuria Nephrotic syndrome Dehydration Vomiting Blindness Myopathy Renal cyst Renal salt wasting Respiratory insufficiency Scleroderma Myotonia Hypernatriuria Palpitations Syncope Generalized muscle weakness Paralysis Increased urinary potassium Medullary nephrocalcinosis Muscle weakness Elfin facies Decreased glomerular filtration rate Infantile hypercalcemia Hypochloremia Fetal polyuria Hypercalcemia Hyperchloriduria Nephrocalcinosis Aortic valve stenosis Hypokalemic metabolic alkalosis Episodic flaccid weakness Periodic paralysis Short stature Premature birth Alkalosis Small for gestational age Polyhydramnios Metabolic alkalosis Hyporeflexia Abnormality of metabolism/homeostasis Motor delay Sensorineural hearing impairment Generalized neonatal hypotonia Distal renal tubular acidosis Nephrolithiasis Epiphyseal stippling Pachygyria Severe global developmental delay Feeding difficulties in infancy Wide nasal bridge Hepatomegaly Primary hyperaldosteronism Periodic hyperkalemic paralysis Hyponatremia Colpocephaly Anisopoikilocytosis Thick lower lip vermilion Increased serum lactate Severe vision loss Neurodevelopmental delay Severe muscular hypotonia Stage 5 chronic kidney disease Abnormality of the nervous system Areflexia Visual loss Visual impairment Episodic vomiting Cerebral visual impairment Neonatal hypotonia Hypoproteinemia Pneumonia Feeding difficulties Molar tooth sign on MRI Retinal dystrophy Apnea Polydactyly Cognitive impairment Ataxia Growth delay Hypoplasia of the iris Buphthalmos Pulmonic stenosis Hyperammonemia Lethargy Abnormality of the eye Weight loss Schistocytosis Abnormal glycosylation Normocytic anemia Poikilocytosis Acanthocytosis Anisocytosis Global brain atrophy Broad-based gait Diffuse mesangial sclerosis Epileptic encephalopathy Brain atrophy Poor speech Developmental regression Encephalopathy Anemia Hypoplasia of the ciliary body Posterior lenticonus Microcoria Lenticonus Congenital nephrotic syndrome Hypokalemic hypochloremic metabolic alkalosis


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