Fever, and Ambiguous genitalia

Diseases related with Fever and Ambiguous genitalia

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

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Other less relevant matches:

Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Low match NEPHROBLASTOMA

Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

NEPHROBLASTOMA Is also known as wilms tumor|nephroblastoma|renal embryonic tumor

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROBLASTOMA

Top 5 symptoms//phenotypes associated to Fever and Ambiguous genitalia

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of penis Cryptorchidism Feeding difficulties in infancy Male pseudohermaphroditism

Rare Symptoms - Less than 30% cases

Aniridia Global developmental delay Seizures Ambiguous genitalia, male Congenital diaphragmatic hernia Gonadal dysgenesis Nephroblastoma Abnormality of the genital system Microcephaly Abnormality of the kidney Weight loss Generalized hypotonia Short stature Growth delay Diarrhea Aganglionic megacolon Pulmonary hypoplasia Gastroesophageal reflux Hyperactivity Patent ductus arteriosus Long philtrum Ventriculomegaly Micrognathia Ventricular septal defect Wide nasal bridge High palate Low-set ears Renal insufficiency Muscular hypotonia Spasticity Scrotal hypoplasia Edema Hypospadias Adrenal insufficiency Clitoral hypertrophy Immunodeficiency Precocious puberty Lymphadenopathy Hypoglycemia Nystagmus Cleft palate Amenorrhea Hearing impairment Gastroschisis Broad alveolar ridges Mesomelic short stature Microglossia Severe failure to thrive Sclerocornea Tracheal stenosis Excessive daytime somnolence Sex reversal Overlapping fingers Neoplasm of the lung Bifid tongue Breech presentation Increased nuchal translucency Bicornuate uterus Cholestatic liver disease Abnormality of the larynx Postaxial foot polydactyly Overgrowth Abnormal renal morphology Aplasia/Hypoplasia affecting the eye Abnormal localization of kidney Hypocholesterolemia Decreased circulating aldosterone level Hematuria Advanced eruption of teeth Ureteropelvic junction obstruction Ectopic calcification Gastrointestinal dysmotility Abnormal eyelash morphology Self-mutilation Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Bifid scrotum Unilateral renal agenesis Hammertoe Proximal placement of thumb Hemihypertrophy Hyponatremia Cutis marmorata Pyloric stenosis Poor suck Abnormality of the urinary system Reduced number of teeth Optic nerve hypoplasia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormality of dental morphology Metatarsus adductus Upper limb undergrowth Ulnar deviation of finger Hip subluxation Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Increased number of teeth Overlapping toe Biparietal narrowing Abnormality of digit Atrioventricular canal defect Mesomelia Renal neoplasm Hyperkalemia 2-3 toe syndactyly Median cleft palate Hypoplasia of the frontal lobes Abdominal pain Dysplastic testes Hydranencephaly Agenesis of corpus callosum Hyperreflexia Long upper lip Motor delay Staccato cry Partial development of the penile shaft Exocrine pancreatic insufficiency Laryngospasm Bronchospasm Testicular dysgenesis Abnormal pattern of respiration Tongue fasciculations Duane anomaly Profound global developmental delay Prominent forehead Temperature instability Malabsorption Chronic diarrhea Postnatal microcephaly Pachygyria Specific learning disability Decreased testicular size Gliosis Wide anterior fontanel Respiratory failure Severe global developmental delay Prominent nasal bridge Lissencephaly Thin upper lip vermilion High forehead Infantile spasms Abnormality of temperature regulation Type I lissencephaly Increased serum testosterone level Alveolar ridge overgrowth Peripheral neuropathy Abnormality of limbs Skeletal muscle atrophy Facial capillary hemangioma Opsoclonus Severe photosensitivity Sleep-wake cycle disturbance Abnormality of metabolism/homeostasis Septate vagina Abnormality of the gallbladder Lower limb muscle weakness Hypohidrosis Periventricular gray matter heterotopia Talipes calcaneovalgus Elevated 7-dehydrocholesterol Arrhythmia Hypothermia Cardiac arrest Pain Cardiorespiratory arrest Stridor Abnormality of the voice Sleep apnea Abnormal autonomic nervous system physiology Bradycardia Recurrent bacterial skin infections Aplasia/Hypoplasia of the corpus callosum Abnormality of immune system physiology Abnormality of the eye Apnea Myoclonus Hyporeflexia Ophthalmoplegia Eczema Abnormal dermatoglyphics Uterus didelphys Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Ambiguous genitalia, female Hypertelorism Diffuse mesangial sclerosis Abnormal renal physiology Gonadoblastoma Glomerulopathy Focal segmental glomerulosclerosis Glomerulonephritis Scoliosis Failure to thrive Primary amenorrhea Epicanthus Anteverted nares Talipes equinovarus Downslanted palpebral fissures Optic atrophy Intrauterine growth retardation Brachydactyly Depressed nasal bridge Strabismus Feeding difficulties Flexion contracture Ptosis Cataract Abnormal facial shape Sensorineural hearing impairment Glomerulosclerosis Nephrotic syndrome Hypoplasia of the corpus callosum Gynecomastia Decreased fertility Abnormality of the thorax Sarcoma Polycystic ovaries Growth abnormality Azoospermia Recurrent urinary tract infections Adrenal hyperplasia Abnormality of the cardiovascular system Hirsutism Infertility Carcinoma Osteopenia Obesity Lipoma Renal salt wasting Abdominal distention Respiratory insufficiency Nephropathy Stage 5 chronic kidney disease Lethargy Pallor Proteinuria Hernia Reduced amygdala volume Astrocytoma Premature pubarche Adrenocortical carcinoma Adrenogenital syndrome Abnormal spermatogenesis Congenital adrenal hyperplasia Abnormality of the ovary Short neck Hydrocephalus Hypercholesterolemia Peripheral demyelination Coarctation of aorta Decreased fetal movement Oligohydramnios Narrow forehead Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Intellectual disability, profound Wide intermamillary distance Renal agenesis Webbed neck Intestinal malrotation Premature birth Renal cyst Abnormality of the ribs Renal hypoplasia Sleep disturbance Gingival overgrowth Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Multicystic kidney dysplasia Short toe Short thumb Rhizomelia Cutaneous photosensitivity Amblyopia Dental crowding Abnormal form of the vertebral bodies Split hand Choanal atresia Recurrent otitis media Hypopigmentation of the skin Iris coloboma Atrial septal defect Microphthalmia Posteriorly rotated ears Severe short stature Cerebellar hypoplasia Constipation Abnormal heart morphology Abnormality of cardiovascular system morphology Syndactyly Polydactyly Short nose Kyphosis Behavioral abnormality Hypertonia Vomiting Intellectual disability, severe Upslanted palpebral fissure Glaucoma Postaxial polydactyly Autistic behavior Micromelia Toe syndactyly Hip dislocation Finger syndactyly Attention deficit hyperactivity disorder Wide mouth Low-set, posteriorly rotated ears Autism Intellectual disability, moderate Aggressive behavior Hydronephrosis Skeletal dysplasia Retrognathia Polyhydramnios Proptosis Neoplasm of the liver


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