Fever, and Hyperinsulinemia

Diseases related with Fever and Hyperinsulinemia

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

Top matches:

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

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Other less relevant matches:

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Related symptoms:

  • Fever
  • Respiratory distress
  • Abnormal heart morphology
  • Pneumonia
  • Acidosis


SOURCES: OMIM MESH MENDELIAN

More info about SUDDEN INFANT DEATH SYNDROME

Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.

FOLLICULAR LYMPHOMA Is also known as oncogene b-cell leukemia 2

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOLLICULAR LYMPHOMA

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

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.

PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME Is also known as familial recurrent arthritis|papa syndrome|fra

Related symptoms:

  • Fever
  • Fatigue
  • Arthralgia
  • Arthritis
  • Proteinuria


SOURCES: ORPHANET MENDELIAN

More info about PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Top 5 symptoms//phenotypes associated to Fever and Hyperinsulinemia

Symptoms // Phenotype % cases
Hypoglycemia Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Apnea Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Abnormal facial shape Respiratory distress Hepatomegaly High palate Global developmental delay Generalized hypotonia Scoliosis Neoplasm Strabismus Cryptorchidism Weight loss Vomiting Glucose intolerance Growth delay Intellectual disability Coma Acidosis Leukemia Insulin resistance Hepatic steatosis Micrognathia

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Dolichocephaly Abnormal heart morphology Hypopigmentation of the skin Sleep disturbance Tapered finger Short foot Small hand Irritability Lymphadenopathy Hypothyroidism Prominent forehead Respiratory tract infection Small for gestational age Dyspnea Neonatal hypotonia Autism Elevated hepatic transaminase Micropenis Lethargy Diabetes mellitus Upslanted palpebral fissure Metabolic acidosis Esotropia Narrow forehead Elevated serum creatine phosphokinase Depressivity Hypoventilation Temperature instability Myeloid leukemia Hyperventilation Polyphagia Narrow palm Almond-shaped palpebral fissure Hyperhidrosis Cardiomyopathy Hearing impairment Ataxia Obesity Hypogonadotrophic hypogonadism Hypertelorism Failure to thrive in infancy Poor suck Ptosis Sleep apnea Cleft palate Increased body weight Frontal bossing Decreased fetal movement Oligohydramnios Clinodactyly Chromosome breakage Failure to thrive Abnormality of the liver Intrauterine growth retardation Myopia Epicanthus Malignant hyperthermia Hyperinsulinemic hypoglycemia Feeding difficulties Cognitive impairment Ventriculomegaly Dilated cardiomyopathy Type I diabetes mellitus Muscular hypotonia Delayed puberty Tachycardia Nystagmus B-cell lymphoma Talipes equinovarus Short palpebral fissure Congestive heart failure Myopathy Lymphoma Neutropenia Kyphosis Short nose Abnormality of the ulna External ear malformation Hearing abnormality Abnormal eyelid morphology Absent thumb Talipes Smooth philtrum Arteriovenous malformation Thick eyebrow Respiratory insufficiency Abnormality of the upper limb Short neck Aplastic anemia Absent speech Constipation Irregular hyperpigmentation Gastroesophageal reflux Retrognathia Multiple cafe-au-lait spots Camptodactyly Hydroureter Hyperlordosis Autistic behavior Acute myeloid leukemia Abnormality of the uterus Coarse facial features Polyhydramnios Wide mouth Mandibular prognathia Abnormality of blood and blood-forming tissues Absent radius Aplasia/Hypoplasia of the radius Arthrogryposis multiplex congenita Anteverted nares Abnormality of chromosome stability Abnormality of the testis Abnormal aortic valve morphology Clubbing of toes Partial duplication of thumb phalanx Acute monocytic leukemia Inability to walk Aplasia/Hypoplasia of the iris Abnormality of the hypothalamus-pituitary axis Low-grade fever Meckel diverticulum Chromosomal breakage induced by crosslinking agents Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormal renal morphology Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Decreased fertility in males Hypoplastic anemia Brachydactyly Neoplasm of head and neck Macrovesicular hepatic steatosis Flexion contracture Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Abnormal localization of kidney Deficient excision of UV-induced pyrimidine dimers in DNA Absent testis Anemic pallor Prolonged G2 phase of cell cycle Abnormality of the thumb Abnormal carotid artery morphology Compensated hypothyroidism Bicornuate uterus Abnormality of femur morphology Complete duplication of thumb phalanx Ventricular hypertrophy Wide intermamillary distance Abnormality of the peritoneum Severe lactic acidosis Ketosis Dicarboxylic aciduria Neonatal hypoglycemia Drowsiness Hyperuricemia Tachypnea Hyperbilirubinemia Lactic acidosis Mediastinal lymphadenopathy Impaired gluconeogenesis Skin nodule Night sweats Chronic lymphatic leukemia Pleural effusion Meningitis Lymphedema Nausea Splenomegaly Diarrhea Neonatal hyperbilirubinemia Increased urinary glycerol Hypercapnia Pustule Cardiomegaly Aciduria Hepatic failure Nausea and vomiting Arrhythmia Encephalopathy Increased inflammatory response Crohn's disease Myositis Increased antibody level in blood Arthralgia Acne Skin ulcer Limitation of joint mobility Proteinuria Hyperammonemia Loss of consciousness Hypoketotic hypoglycemia Respiratory arrest Arthritis Apneic episodes in infancy Glutaric acidemia Open mouth Delayed ability to walk Gait disturbance Tremor Dysarthria Intermittent hyperventilation Multiple pterygia Abnormality of the philtrum Excessive salivation Misalignment of teeth Fetal akinesia sequence Short humerus Cerebral atrophy Limited elbow extension Rocker bottom foot Akinesia Impulsivity Trigonocephaly Pterygium Adducted thumb Microretrognathia Exotropia Dystonia Dementia Microvesicular hepatic steatosis Hand tremor Bronchiolitis Hypoxemia Bronchitis Prolonged QT interval Venous thrombosis Shock Pneumonia Kinetic tremor Head tremor Resting tremor Rigidity Personality changes Postural tremor Abnormality of extrapyramidal motor function Squamous cell carcinoma Memory impairment Migraine Parkinsonism Abnormality of movement Mental deterioration Anxiety Ectopic kidney Hypertrophic cardiomyopathy Hypoplasia of the ulna Sepsis Abnormality of the cardiovascular system Amenorrhea Specific learning disability Hip dysplasia Febrile seizures Growth hormone deficiency Gastrointestinal hemorrhage Full cheeks Downturned corners of mouth Psychosis Short palm Polymicrogyria Arachnodactyly Infertility Genu valgum Carious teeth Hypermetropia Pruritus Type II diabetes mellitus Cutaneous photosensitivity Attention deficit hyperactivity disorder Radial deviation of finger Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Large hands Emotional lability Precocious puberty Primary amenorrhea Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Aortic valve stenosis Bradycardia Clumsiness Stroke Abnormality of the pinna Narrow nasal bridge Pierre-Robin sequence Increased muscle glycogen content Exercise-induced muscle fatigue Increased intramyocellular lipid droplets Reduced antithrombin III activity Decreased serum insulin-like growth factor 1 Chronic hepatitis Type I transferrin isoform profile Small face Rhabdomyolysis Type II transferrin isoform profile Abnormality of the coagulation cascade Exercise intolerance Cardiac arrest Hepatitis Chest pain Bifid uvula Muscle cramps Cleft lip Muscle weakness Cerebral venous thrombosis Abnormal protein glycosylation Abnormality of the nervous system Hyporeflexia Photophobia Thin upper lip vermilion Osteopenia Narrow mouth Respiratory failure Hyperactivity Osteoporosis Recurrent respiratory infections Dilatation Pain Syndactyly Behavioral abnormality Abnormality of the dentition Intellectual disability, severe Edema Hypertension Depressed nasal bridge Motor delay Delayed speech and language development External genital hypoplasia Impaired pain sensation Tracheoesophageal fistula Facial asymmetry Sloping forehead Tetralogy of Fallot Renal agenesis Bruising susceptibility Abnormality of skin pigmentation Vertigo Astigmatism Anal atresia Abnormality of the foot Choanal atresia Toe syndactyly Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Postnatal growth retardation Abnormality of the kidney Abnormality of the eye Carcinoma Pes planus Pancytopenia Abnormality of the genital system Proptosis Azoospermia Triphalangeal thumb Myelodysplasia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Aganglionic megacolon Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Short thumb Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Umbilical hernia Severe short stature Striae distensae Hypothermia Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Ocular albinism Triangular mouth Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Pulmonary embolism Disseminated intravascular coagulation Central adrenal insufficiency Clinodactyly of the 5th finger Hydrocephalus Patent ductus arteriosus Hypospadias Thrombocytopenia Abnormality of cardiovascular system morphology Headache Microphthalmia Renal insufficiency Atrial septal defect Abnormality of the skeletal system Hypoplastic labia minora Hyperreflexia Visual impairment Anemia Cataract Microcephaly Acromicria Poor gross motor coordination Hypopnea Psychotic episodes Hypoglycemic encephalopathy


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