Hearing impairment, and Dehydration

Diseases related with Hearing impairment and Dehydration

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

Top matches:

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta|rta, distal, autosomal recessive|ar drta|renal tubular acidosis, autosomal recessive, with preserved hearing

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

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

RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

Other less relevant matches:

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

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 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 (see BARTS3, {607364}) 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}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Top 5 symptoms//phenotypes associated to Hearing impairment and Dehydration

Symptoms // Phenotype % cases
Failure to thrive Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Dehydration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Metabolic acidosis Nephrolithiasis Nephrocalcinosis Hypokalemia Weight loss Renal salt wasting Vomiting Acidosis Hyponatremia Generalized hypotonia Renal insufficiency

Rare Symptoms - Less than 30% cases

Arthrogryposis multiplex congenita Coma Downturned corners of mouth Intrauterine growth retardation Generalized tonic-clonic seizures Abnormal heart morphology Abnormality of mitochondrial metabolism Polydipsia Generalized myoclonic seizures Neurodevelopmental delay Apraxia Bilateral ptosis Hyperglycemia Seizures Glycosuria Prominent metopic ridge Renal tubular dysfunction Fever Ketonuria Autoimmune antibody positivity Abnormality of the upper urinary tract Hypovolemia Contractures of the joints of the lower limbs Fatigue Hypoglycemia Stage 5 chronic kidney disease Small for gestational age Bilateral sensorineural hearing impairment Increased urinary potassium Rickets Distal renal tubular acidosis Edema Hyporeflexia Polyhydramnios Premature birth Fetal polyuria Hypercalciuria Polyuria Hyperaldosteronism Alkalosis Metabolic alkalosis Decreased glomerular filtration rate Hypokalemic metabolic alkalosis Hypochloremia Hypernatriuria Hypokalemic hypochloremic metabolic alkalosis Hyperchloriduria Spastic tetraplegia Horizontal nystagmus Microalbuminuria Osteomalacia Pancreatic hypoplasia Neonatal insulin-dependent diabetes mellitus Hallucinations Short stature Reduced pancreatic beta cells Choreoathetosis Progressive neurologic deterioration Diabetes mellitus Insulin resistance Steatorrhea Hyperchloremic metabolic acidosis Abnormality of metabolism/homeostasis Spastic tetraparesis Transient neonatal diabetes mellitus Drooling Athetosis Agitation Restlessness Mitochondrial myopathy Diffuse cerebral atrophy Gastrointestinal dysmotility Peripheral axonal neuropathy Loss of ability to walk Abnormal mitochondrial morphology Retinopathy Persistent lactic acidosis Intellectual disability, severe Maternal diabetes Elevated hemoglobin A1c Abnormality of the pancreatic islet cells Myoclonus Chorea Tetraplegia Tetraparesis Neurodegeneration Lactic acidosis Retinal degeneration Abnormality of movement Neurological speech impairment Developmental regression Hypertrophic cardiomyopathy Aggressive behavior Rigidity Gait ataxia Cerebral cortical atrophy Visual loss Aciduria Dysphagia Nystagmus Cognitive impairment Delayed speech and language development Dysarthria Optic atrophy Tremor Cardiomyopathy Encephalopathy Blindness Ataxia Dystonia Intellectual disability, mild Cerebral atrophy Absent speech Myopathy Abnormal spermatogenesis Adrenocortical hypoplasia IgA deficiency Sepsis Decreased antibody level in blood Skin ulcer Lymphopenia Leukopenia Chronic otitis media Combined immunodeficiency Severe combined immunodeficiency Skin rash Hypoplasia of the thymus Cellular immunodeficiency Abnormality of neutrophils Impaired T cell function Granulocytopenia Abnormality of the thymus Aplasia of the thymus Aplasia/Hypoplasia of the thymus Malabsorption Recurrent respiratory infections Congenital agranulocytosis Myalgia Renal tubular acidosis Osteopetrosis Renal potassium wasting Paralysis Headache Hyperhidrosis Abdominal pain Arthralgia Arthritis Immunodeficiency Erythema Pruritus Nausea and vomiting Conjunctivitis Urticaria Dysesthesia Anemia Diarrhea Agranulocytosis Lack of T cell function Absence of pubertal development Adrenal hyperplasia Azoospermia Shock Schizophrenia Precocious puberty Adrenal insufficiency Primary adrenal insufficiency Adrenal hypoplasia Oligospermia Hypogonadotrophic hypogonadism Decreased circulating cortisol level High-frequency hearing impairment Gonadotropin deficiency Long penis Decreased circulating aldosterone level Congenital adrenal hyperplasia Cerebral calcification Congenital adrenal hypoplasia Accelerated skeletal maturation Hyperpigmentation of the skin Prominent forehead Hypokalemic alkalosis Protruding ear Postural instability Triangular face Hydrops fetalis Glomerulosclerosis Congenital sensorineural hearing impairment Abnormally large globe Tubulointerstitial fibrosis Mesangial hypercellularity Asthma Global glomerulosclerosis Hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Cryptorchidism Hypogonadism Growth delay Muscular dystrophy Delayed puberty Progressive choreoathetosis


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