Fever, and Osteopenia

Diseases related with Fever and Osteopenia

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

Top matches:

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

High match BETA-THALASSEMIA

Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

Other less relevant matches:

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

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 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 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

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 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 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Top 5 symptoms//phenotypes associated to Fever and Osteopenia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Polyuria Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Constipation Vomiting Polydipsia Dehydration Pain Prominent forehead Renal salt wasting Hepatosplenomegaly Intellectual disability Splenomegaly Diarrhea Respiratory insufficiency Fatigue Seizures Growth delay Global developmental delay Paresthesia Weight loss Hypercalciuria Hypokalemia

Rare Symptoms - Less than 30% cases

Hepatitis Diabetes insipidus Chondrocalcinosis Cholelithiasis Tetany Osteomalacia Metabolic alkalosis Recurrent fractures Increased circulating renin level Pruritus Polyhydramnios Hypokalemic metabolic alkalosis Hypokalemic alkalosis Hyposthenuria Osteomyelitis Hypochloremia Respiratory distress Renal potassium wasting Abnormality of the dentition Skin rash Increased urinary potassium Fetal polyuria Scoliosis Hyperactive renin-angiotensin system Hyperchloriduria Hyperprostaglandinuria Increased serum prostaglandin E2 Renal juxtaglomerular cell hypertrophy/hyperplasia Low-to-normal blood pressure Alkalosis Hypoglycemia Skin ulcer Feeding difficulties Autoimmunity Neoplasm Small for gestational age Acidosis Hypertension Muscle cramps Generalized muscle weakness Obesity Pancreatitis Triangular face Premature birth Histiocytosis Nephrocalcinosis Jaundice Hypomagnesemia Hyperaldosteronism Irritability Renal insufficiency Parathyroid adenoma Sensorineural hearing impairment Abnormal facial shape Fasting hypoglycemia Hyperparathyroidism Hypercalcemia Gastroesophageal reflux Protruding ear Microalbuminuria Hearing impairment Stage 5 chronic kidney disease Strabismus Hyperphosphaturia Arrhythmia Generalized hypotonia Ventricular arrhythmia Frontal bossing Macrotia Macrocephaly Chronic acidosis Galactose intolerance Impairment of galactose metabolism Hyperuricosuria Galactosuria Hyperkalemia Generalized aminoaciduria Albuminuria Mild proteinuria Hyperthyroidism Hypergalactosemia Abnormally large globe Impaired platelet aggregation Pseudohypoaldosteronism Hypouricemia Hypocalciuria Feeding difficulties in infancy Parathyroid hyperplasia Generalized amyotrophy Acute hepatic failure Hepatocellular carcinoma Uveitis Thyroiditis Amyloidosis Celiac disease Abnormality of the thyroid gland Inflammation of the large intestine Cholestatic liver disease Pleural effusion Portal hypertension Hypoalbuminemia Type I diabetes mellitus Hepatic fibrosis Cholestasis Ascites Cirrhosis Ulcerative colitis Cholangitis Abnormality of the liver Palmar telangiectasia Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Abnormal biliary tract morphology Prolonged prothrombin time Chronic hepatic failure Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Scarring Elevated hepatic transaminase Nephrogenic diabetes insipidus Renal tubular dysfunction Abnormality of the metaphysis Oligohydramnios Limitation of joint mobility Asthma Micromelia Genu valgum Camptodactyly of finger Abnormality of the eye Hypohidrosis Apnea Skeletal dysplasia Hypothyroidism Hyperhidrosis Talipes equinovarus Intrauterine growth retardation Flexion contracture Muscular hypotonia Bowing of the long bones Elbow flexion contracture Abdominal pain Thickened cortex of long bones Encephalopathy Depressivity Congestive heart failure Absent patellar reflexes Smooth tongue Flexion contracture of finger Decreased corneal reflex Ectopic thyroid Lacrimation abnormality Abnormal autonomic nervous system physiology Abnormal cortical bone morphology Trismus Episodic fever Impaired pain sensation Metaphyseal widening Abnormality of vision Sacral dimple Knee flexion contracture Ketonuria Hyperlordosis Ketosis Portal fibrosis Hyperkeratosis Reduced beta/alpha synthesis ratio Abnormality of iron homeostasis Abnormality of temperature regulation Hypochromic anemia Abnormal hemoglobin Decreased mean corpuscular volume Sepsis Hypochromic microcytic anemia Poikilocytosis Anemia of inadequate production Anisocytosis Abnormality of the skull Microcytic anemia Reduced bone mineral density Arthralgia Epidermal acanthosis Hypogonadotrophic hypogonadism Vertebral fusion Fused cervical vertebrae Stomatitis Thrombocytosis Pustule Joint swelling Fragile skin Interstitial pulmonary abnormality Inflammatory abnormality of the skin Leukocytosis Hyperostosis Psoriasiform dermatitis Scaling skin Osteolysis Vasculitis Meningitis Venous thrombosis Postural instability Low-grade fever Gynecomastia Abnormality of the thorax Precocious puberty Sarcoma Polycystic ovaries Growth abnormality Azoospermia Recurrent urinary tract infections Adrenal insufficiency Ambiguous genitalia Abnormality of the cardiovascular system Amenorrhea Hirsutism Infertility Carcinoma Hypospadias Clitoral hypertrophy Decreased fertility Pallor Reduced amygdala volume Hypertrophic cardiomyopathy Delayed skeletal maturation Thrombocytopenia Abnormality of the skeletal system Anemia Muscle weakness Premature pubarche Lipoma Adrenocortical carcinoma Adrenogenital syndrome Abnormal spermatogenesis Congenital adrenal hyperplasia Abnormality of the ovary Astrocytoma Adrenal hyperplasia Fetal distress Cerebral vasculitis Protuberant abdomen Atelectasis Proteinuria Severe short stature Cataract Generalized abnormality of skin Paronychia Increased IgE level Dystrophic fingernails Nephropathy Gingivitis Cellulitis Skin vesicle Chronic otitis media Eosinophilia Abnormality of the hair Abnormality of the face Malabsorption Hepatic steatosis Lymphoma Bowing of the legs Poor appetite Renal tubular acidosis Hyperuricemia Glycosuria Reduced subcutaneous adipose tissue Hypophosphatemia Hyperglycemia Metabolic acidosis Rickets Elevated alkaline phosphatase Hypercholesterolemia Hyperlipidemia Aminoaciduria Increased body weight Abdominal distention Eczema Delayed eruption of teeth Periostitis Dry skin Syncope Gliosis Coma Wide nose Vertigo Confusion Lethargy Hypotension Diabetes mellitus Abnormality of metabolism/homeostasis Long philtrum Short nose Hypertelorism Onychomadesis Chronic recurrent multifocal osteomyelitis Growth hormone deficiency Orthostatic hypotension Joint hyperflexibility Dilatation Papule Cough Craniosynostosis Deeply set eye Recurrent respiratory infections Recurrent infections Wide nasal bridge Enuresis Cleft palate Germinoma Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Adenocarcinoma of the large intestine


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