Fever, and Irritability

Diseases related with Fever and Irritability

In the following list you will find some of the most common rare diseases related to Fever 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

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

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

Other less relevant matches:

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency|dhpr deficiency|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency|qdpr deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Top 5 symptoms//phenotypes associated to Fever and Irritability

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Dystonia Lethargy Hypertonia Dysphagia Vomiting Excessive salivation Motor delay Hyperphenylalaninemia Progressive neurologic deterioration Episodic fever Muscular hypotonia Choreoathetosis Muscular hypotonia of the trunk Abnormality of extrapyramidal motor function Encephalopathy Rigidity Hypokinesia Bradykinesia Parkinsonism Polydipsia Diabetes insipidus

Rare Symptoms - Less than 30% cases

Lymphoma Oculogyric crisis Myoclonus Limb dystonia Opisthotonus Drooling Hyperhidrosis Postural instability Dysarthria Progressive encephalopathy Ptosis Poor suck Ataxia Intellectual disability, progressive Hyperreflexia Gait disturbance Microcephaly Babinski sign Growth delay Failure to thrive Feeding difficulties in infancy Nephrogenic diabetes insipidus Hypernatremia Polyuria Dehydration Megacystis Unexplained fevers Hypertonic dehydration Short stature Joint hypermobility Arthralgia Inguinal hernia Bruising susceptibility Neoplasm Scoliosis Decreased CSF homovanillic acid Umbilical hernia Parkinsonism with favorable response to dopaminergic medication Osteoarthritis Night sweats Focal dystonia Generalized dystonia Central hypotonia Lower limb hyperreflexia Brisk reflexes Mask-like facies Postural tremor Gait ataxia Pes cavus Cerebral atrophy Intellectual disability, mild Diarrhea Hyperextensible skin Talipes equinovarus Hepatitis Dysgammaglobulinemia Erythema nodosum Folliculitis Hemophagocytosis Immune dysregulation Aplastic anemia Abnormality of the gastrointestinal tract Increased serum ferritin Colitis Inflammation of the large intestine Acne Recurrent skin infections Hypertriglyceridemia Pancytopenia Decreased antibody level in blood Nephroblastoma Erythema Respiratory tract infection Hepatosplenomegaly Recurrent respiratory infections Recurrent infections Immunodeficiency Splenomegaly Anemia Gingival recession Periodontitis Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Respiratory distress Tachypnea Delayed speech and language development Apnea Hypovolemia Enuresis nocturna Nocturia Folate deficiency Hyposthenuria Functional abnormality of the bladder Hypernatremic dehydration Hepatomegaly Dyspnea Acidosis Cerebral calcification Hypoglycemia Lactic acidosis Hydroureter Tachycardia Metabolic acidosis Coma Hyperbilirubinemia Increased urinary glycerol Impaired gluconeogenesis Neonatal hyperbilirubinemia Severe lactic acidosis Ketosis Neonatal hypoglycemia Hyperventilation Drowsiness Pollakisuria Anorexia Weight loss Anxiety Infantile encephalopathy Limb hypertonia Hyperuricemia Impulsivity Obsessive-compulsive behavior Hyperkinesis Torticollis Severe muscular hypotonia Involuntary movements Abnormality of movement Abnormality of eye movement Abnormality of the eye Hyperactivity Abnormality of the nervous system Depressivity Behavioral abnormality Fatigue Spasticity Strabismus Transient hyperphenylalaninemia Excessive daytime somnolence Renal insufficiency Polyhydramnios Hydronephrosis Small for gestational age Nausea and vomiting Hypofibrinogenemia


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