Fever, and Hypogonadism

Diseases related with Fever and Hypogonadism

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

Top matches:

Medium match PITUITARY APOPLEXY

The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Medium 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

Medium match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Other less relevant matches:

Medium match HIRSCHSPRUNG DISEASE

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Hypogonadism

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Muscle weakness Intellectual disability, mild Sensorineural hearing impairment Cognitive impairment Delayed skeletal maturation Micrognathia Microcephaly Global developmental delay Hypogonadotrophic hypogonadism Photophobia Fatigue Failure to thrive Hypertelorism Strabismus Cryptorchidism Alopecia Hepatomegaly Anemia Feeding difficulties Hyperkeratosis Cataract Primary amenorrhea Amenorrhea Posteriorly rotated ears Decreased testicular size Failure to thrive in infancy Neoplasm Malignant hyperthermia Hypoglycemia Delayed puberty Growth hormone deficiency Scoliosis Ataxia Hypergonadotropic hypogonadism Hypothyroidism Abnormal facial shape Vomiting

Rare Symptoms - Less than 30% cases

Spasticity Abnormality of the dentition Long eyelashes Dental malocclusion Kyphoscoliosis Cerebral cortical atrophy Cerebral atrophy Ventriculomegaly Abdominal pain Pain Constipation Peripheral neuropathy Myopathy Nystagmus Abdominal distention Male infertility Polyneuropathy Abnormal heart morphology Ventricular septal defect Atrial septal defect Edema Hernia Clinodactyly Patent ductus arteriosus Proptosis Epicanthus Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Hypotrichosis Wide intermamillary distance Plagiocephaly Azoospermia Leukocytosis Brachydactyly Pterygium Split hand Recurrent corneal erosions Frontal bossing Diabetes mellitus Retinopathy Hypohidrosis Abnormality of the coagulation cascade Exocrine pancreatic insufficiency Heat intolerance Micropenis Telangiectasia Abnormality of the foot Cleft upper lip Thin skin Conjunctivitis Keratitis Blepharitis Seizures Rhabdomyolysis Conductive hearing impairment Central diabetes insipidus Hypertrophic cardiomyopathy Hepatosplenomegaly Cleft lip Hyponatremia Cardiomyopathy Abnormality of the skeletal system Nausea and vomiting Thrombocytopenia Cleft palate Microcytic anemia Dyspnea Diarrhea Hypopituitarism Pallor Confusion Hepatitis Osteoporosis Headache Diplopia Rod-cone dystrophy Gastroesophageal reflux Hypotension Postnatal growth retardation Polyhydramnios Chest pain Cranial nerve paralysis Impotence Pectus excavatum Blurred vision Abnormality of cardiovascular system morphology Dilatation Congestive heart failure Growth hormone excess Short neck Increased circulating cortisol level Downslanted palpebral fissures Myopia Sparse hair Facial asymmetry Coma Low posterior hairline Elevated alkaline phosphatase Poor suck Arnold-Chiari malformation Bicuspid aortic valve Reduced visual acuity Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Ventricular hypertrophy Broad forehead Coarctation of aorta Webbed neck Abnormal bleeding Triangular face High, narrow palate Bruising susceptibility Prolactin excess Pulmonic stenosis Leukemia Oligomenorrhea Low-set ears Depressed nasal bridge Optic atrophy Choreoathetosis Cutaneous photosensitivity Abnormality of extrapyramidal motor function Dry skin Erythema Developmental regression Mental deterioration Carcinoma EEG abnormality Arthralgia Hyporeflexia Pituitary hypothyroidism Thickened skin Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Excessive daytime somnolence Abnormal vertebral morphology High palate Macule Myelodysplasia Flat nasal alae Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Papilloma Conjunctival telangiectasia Entropion Craniofacial hyperostosis Poikiloderma Telangiectasia of the skin Freckling Hypermelanotic macule Bone marrow hypocellularity Squamous cell carcinoma Melanocytic nevus Ectropion Pituitary adenoma Dermal atrophy Hypopigmented skin patches Melanoma Reduced tendon reflexes Neoplasm of the skin Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Patent foramen ovale Neurofibromas Cubitus valgus Sleep apnea Episodic fever Polycythemia Scleroderma Lipoatrophy Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Osteolysis Enlarged kidney Type I diabetes mellitus Elbow flexion contracture Aspiration Gynecomastia Hyperpigmentation of the skin Gingival overgrowth Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Severe sensorineural hearing impairment Abnormal eyebrow morphology Cardiomegaly Corneal arcus Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Hyperplasia of the maxilla Aspiration pneumonia Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Epidermal acanthosis Bilateral sensorineural hearing impairment Radial deviation of finger Shield chest Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Restrictive cardiomyopathy Juvenile myelomonocytic leukemia Atrial flutter Nonimmune hydrops fetalis Drusen Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Cystic hygroma Bladder diverticulum Abnormality of color vision Panuveitis Loose anagen hair Mitral valve prolapse Pes planus Overgrowth Full cheeks Recurrent fractures Flat face Ichthyosis Lymphadenopathy Malabsorption Pectus carinatum Apnea Abnormality of the kidney Camptodactyly Severe short stature Pectus excavatum of inferior sternum Pneumonia Hydrocephalus Anteverted nares Wide nasal bridge Hyperreflexia Flexion contracture Generalized hypotonia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Selective tooth agenesis Anodontia Hypoplasia of the thymus Cholelithiasis Abnormal pyramidal sign Camptodactyly of finger Myalgia Proximal muscle weakness Skin ulcer Venous thrombosis Pes cavus Babinski sign Reduced bone mineral density Microphthalmia Kyphosis Talipes equinovarus Dysmetria Tremor Intrauterine growth retardation Osteomalacia Motor delay Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Abnormality of enteric ganglion morphology Total intestinal aganglionosis Intestinal perforation Congenital cataract Paresthesia Neoplasm of the thyroid gland Secondary amenorrhea Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Myoglobinuria Axonal loss Axonal degeneration Small hand Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Intention tremor Interphalangeal joint contracture of finger Irritability Peripheral demyelination Postural instability Chorea Microcornea Sensory neuropathy Functional abnormality of the gastrointestinal tract Total colonic aganglionosis Peripheral hypomyelination Exercise-induced muscle fatigue Reduced beta/alpha synthesis ratio Elevated serum creatine phosphokinase Prominent forehead Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Tachycardia Abnormal protein glycosylation Type II transferrin isoform profile Cerebral venous thrombosis Increased muscle glycogen content Increased intramyocellular lipid droplets Abnormality of temperature regulation Reduced antithrombin III activity Decreased serum insulin-like growth factor 1 Chronic hepatitis Type I transferrin isoform profile Small face Hyperinsulinemic hypoglycemia Pierre-Robin sequence Hepatic steatosis Muscle cramps Bifid uvula Exercise intolerance Abnormality of iron homeostasis Hypochromic anemia Anteverted ears Adducted thumb Central hypoventilation Enterocolitis Intestinal polyposis Neoplasm of the endocrine system Heterochromia iridis Hypoventilation Long nose Malnutrition Flat occiput Intestinal obstruction Hypochromic microcytic anemia Abnormal autonomic nervous system physiology Weight loss Increased body weight Low anterior hairline Decreased mean corpuscular volume Aganglionic megacolon Sloping forehead Portal fibrosis Sepsis Abnormal hemoglobin Thick eyebrow Lethargy Prominent nasal bridge Acute rhabdomyolysis Skeletal muscle atrophy Sparse pubic hair Hypoplasia of the maxilla Galactorrhea Choanal atresia Sparse scalp hair Oligohydramnios Microdontia Renal agenesis Nail dysplasia Ectodermal dysplasia Vesicoureteral reflux Broad nasal tip Hypodontia Pulmonary hypoplasia Abnormality of the genital system Oral cleft Abnormality of the cerebrospinal fluid Anal atresia Mydriasis Toe syndactyly Carious teeth Small for gestational age Short philtrum Microtia Blepharophimosis Telecanthus Omphalocele Renal dysplasia Hypertension Xerostomia Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Cardiac arrest Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Adrenocorticotropic hormone deficiency Hypoplastic nipples Sparse and thin eyebrow Ectrodactyly Absent septum pellucidum Hydroureter Epiphora Hand polydactyly Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Oligodontia Sparse eyelashes Normochromic anemia Hydronephrosis Prolactin deficiency Jaundice Dehydration Hypopigmentation of hair Glycosuria Polyuria Oral-pharyngeal dysphagia Rickets Metaphyseal widening Polydipsia Chronic kidney disease Nephrolithiasis Progressive neurologic deterioration Pigmentary retinopathy Cerebral calcification Microscopic hematuria Memory impairment Generalized muscle weakness Hypopigmentation of the skin Abnormality of skin pigmentation Stage 5 chronic kidney disease Genu valgum Proteinuria Osteopenia Renal insufficiency Blindness Dysphagia Respiratory insufficiency Flushing Trigeminal neuralgia Elevated intracellular cystine Polydactyly Bitemporal hemianopia Recurrent respiratory infections Abnormal kinetic perimetry test Inguinal hernia Recurrent infections Immunodeficiency Syndactyly Malar flattening Thunderclap headache Abnormal caudate nucleus morphology Oral motor hypotonia Preeclampsia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Abnormal static automated perimetry test Decreased plasma carnitine Male hypogonadism Seborrheic keratosis


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