Cryptorchidism, and Abnormality of the liver

Diseases related with Cryptorchidism and Abnormality of the liver

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

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Related symptoms:

  • Global developmental delay
  • Cryptorchidism
  • Hypertension
  • Hypoplasia of the corpus callosum
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

Other less relevant matches:

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

AROMATASE DEFICIENCY Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency

Related symptoms:

  • Growth delay
  • Pain
  • Cryptorchidism
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE DEFICIENCY

Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Abnormality of the liver

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cryptorchidism and Abnormality of the liver. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hypoglycemia Obesity Hepatic steatosis Type II diabetes mellitus Growth delay Edema

Rare Symptoms - Less than 30% cases

Patent ductus arteriosus Bilateral cryptorchidism Hypertension Pulmonary arterial hypertension Abnormality of the cerebral white matter Abnormality of the kidney Polyhydramnios Primary amenorrhea Hypoplasia of penis Neoplasm Motor delay Ventricular septal defect Intestinal malrotation Dilatation Short stature Anemia Muscle weakness Sensorineural hearing impairment Spasticity Intrauterine growth retardation Embryonal neoplasm Renal insufficiency Ataxia Cataract Abnormal vertebral morphology Apnea Single umbilical artery Aortic valve stenosis Hydronephrosis Abnormal lung lobation Bicuspid aortic valve Ectrodactyly Aganglionic megacolon Tracheoesophageal fistula Anal atresia Hydroureter Hypoplastic left heart Cyanosis Atrioventricular canal defect Tetralogy of Fallot Vesicoureteral reflux Female infertility Respiratory failure Clitoral hypertrophy Postural instability Amenorrhea Abnormality of the cardiovascular system Epidermal acanthosis Tall stature Insulin resistance Bone pain Hypergonadotropic hypogonadism Generalized hirsutism Hyperlipidemia Acanthosis nigricans Acne Atrial septal defect Male infertility Delayed epiphyseal ossification Macroorchidism Ovarian cyst Enlarged polycystic ovaries Ambiguous genitalia, female Eunuchoid habitus Female pseudohermaphroditism Duodenal atresia Macroorchidism, postpubertal Maternal virilization in pregnancy Respiratory distress Asplenia Abnormality of the pulmonary vasculature Volvulus Abnormality of the outer ear Clinodactyly Abnormal heart morphology Inguinal hernia Umbilical hernia Autistic behavior Facial asymmetry Macroglossia Premature birth Overgrowth Omphalocele Abnormality of the face Nephroblastoma Delayed speech and language development Large for gestational age Abnormality of the ureter Enlarged kidney Neonatal hypoglycemia Nevus flammeus Diastasis recti Hemihypertrophy Visceromegaly Rhabdomyosarcoma Abdominal wall defect Anterior creases of earlobe Splenomegaly Cleft palate Hypoxemia Nystagmus Pulmonary insufficiency Ureteropelvic junction obstruction Duodenal stenosis Accessory spleen Meckel diverticulum Absent gallbladder Annular pancreas Right-to-left shunt Pulmonary valve atresia Infertility Abnormality of the pulmonary veins Strabismus Abnormality of the antitragus Epicanthus Brachydactyly Abnormality of cardiovascular system morphology Brachycephaly Low-set, posteriorly rotated ears Finger syndactyly Iris coloboma Bilateral single transverse palmar creases Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Hirsutism Microcytic anemia Genu valgum Cystic lung disease Abnormal lung morphology Tachypnea Cholelithiasis Dilatation of the cerebral artery Abnormality of the vasculature Colpocephaly Thoracic aortic aneurysm Mydriasis Hypoperistalsis Periventricular white matter hyperdensities Retinal infarction Asthma Hyperperistalsis Microcephaly Fatigue Vomiting Abdominal pain Carcinoma Cirrhosis Hepatitis Hepatic fibrosis Hepatocellular carcinoma Coarctation of aorta Stroke Neoplasm of the liver Attenuation of retinal blood vessels Hearing impairment Feeding difficulties Blindness Hypertonia Rod-cone dystrophy Elevated hepatic transaminase Muscular hypotonia of the trunk Retinal degeneration Pigmentary retinopathy Status epilepticus Macular edema Hypoplasia of the corpus callosum Cystoid macular edema Hypothyroidism Jaundice Delayed puberty Hypotension Diabetes insipidus Adrenal hypoplasia Abnormality of the hypothalamus-pituitary axis Ectopic posterior pituitary Septo-optic dysplasia Abnormality of the pituitary gland Thrombocytosis Hypertyrosinemia Osteopenia Microvesicular hepatic steatosis Sudden cardiac death Aciduria Decreased testicular size Mitral regurgitation Abnormality of the genital system Prolonged QT interval Hypokinesia Generalized hypotonia Perineal hypospadias 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Postnatal growth retardation Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Pain Delayed skeletal maturation Osteoporosis Hypogonadism Diabetes mellitus Dilated cardiomyopathy Arrhythmia Micronodular cirrhosis Hyperreflexia Hepatoblastoma Chronic hepatitis Chronic infection Elevated alpha-fetoprotein Giant cell hepatitis Epigastric pain Portal vein thrombosis Hepatic necrosis Viral hepatitis Subacute progressive viral hepatitis Ventriculomegaly Hypospadias Cerebellar hypoplasia Polydactyly Congenital cataract Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Cystic renal dysplasia Optic atrophy Cardiomyopathy Congestive heart failure Auricular pit


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