Growth delay, and Irritability

Diseases related with Growth delay and Irritability

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

Top matches:

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

HEREDITARY CENTRAL DIABETES INSIPIDUS Is also known as hereditary cdi|hereditary neurogenic diabetes insipidus

Related symptoms:

  • Growth delay
  • Fever
  • Vomiting
  • Diarrhea
  • Weight loss


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CENTRAL DIABETES INSIPIDUS

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Other less relevant matches:

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a|gsd type 0a|glycogen storage disease type 0a|glycogen storage disease due to liver glycogen synthase deficiency|glycogenosis type 0a|hypoglycemia with deficiency of glycogen synthetase in the liver|gsd due to hepatic glycogen synthase deficiency|li

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY

Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ITPA-RELATED ENCEPHALOPATHY

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

NEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA

Top 5 symptoms//phenotypes associated to Growth delay and Irritability

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Growth delay and Irritability. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Feeding difficulties Generalized hypotonia Microcephaly Diabetes insipidus Polydipsia Cerebral atrophy Fever Dehydration Spasticity Hypoplasia of the corpus callosum Diarrhea

Rare Symptoms - Less than 30% cases

Delayed myelination Status epilepticus Ketosis Cerebellar atrophy Flexion contracture Fatigue Neonatal hypotonia Tetraplegia Generalized myoclonic seizures Spastic tetraplegia Opisthotonus Hypertonia Absent speech Cerebral cortical atrophy Hypoglycemia Encephalopathy Nausea and vomiting Constipation Megacystis Hypernatremia Lethargy Abdominal distention Nephrogenic diabetes insipidus Polyuria Hypertonic dehydration Unexplained fevers Feeding difficulties in infancy Recurrent hypoglycemia Progressive microcephaly Intellectual disability, profound Malabsorption Exercise intolerance Hypercholesterolemia Myoglobinuria Exercise-induced myalgia Scoliosis Nephrolithiasis Increased hepatic glycogen content Failure to thrive in infancy Osteoporosis Increased muscle glycogen content Abdominal colic Malnutrition Intellectual disability, progressive Decreased liver function Poor eye contact Delayed ability to walk Optic nerve hypoplasia Chorea Inability to walk Attention deficit hyperactivity disorder Macrotia Gait disturbance Strabismus Nystagmus Progressive encephalopathy Mask-like facies Abdominal pain Athetosis Postnatal microcephaly Hypsarrhythmia Muscular hypotonia of the trunk Gastroesophageal reflux Weight loss Dystonia Abnormality of metabolism/homeostasis Intellectual disability, severe Diffuse cerebellar atrophy Progressive spastic quadriplegia Muscle stiffness Cirrhosis Progressive muscle weakness Elevated hepatic transaminase Renal insufficiency Neonatal hypoglycemia Drowsiness Glycosuria Hyperglycemia Hyperlipidemia Increased serum lactate Confusion Pallor Polyhydramnios Abnormality of the gastrointestinal tract Hydronephrosis Hypernatremic dehydration Functional abnormality of the bladder Hyposthenuria Nocturia Enuresis nocturna Hypovolemia Pollakisuria Hydroureter Ketonuria Fasting hypoglycemia Hypertriglyceridemia Muscle weakness Muscle cramps Anorexia Nausea Scarring Myalgia Headache Skeletal muscle atrophy Hepatomegaly Pain Limb tremor Postprandial hyperglycemia Delayed CNS myelination High pitched voice Severe muscular hypotonia Epileptic encephalopathy Brain atrophy Cardiomyopathy Intrauterine growth retardation Cataract Elevated plasma branched chain amino acids Ketotic hypoglycemia Exaggerated startle response


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