Cryptorchidism, and Cirrhosis

Diseases related with Cryptorchidism and Cirrhosis

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


Top matches:

Medium match PEDIATRIC HEPATOCELLULAR CARCINOMA


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

Medium match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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Other less relevant matches:

Medium match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Thrombocytopenia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match RETINITIS PIGMENTOSA 59; RP59


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Low match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


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

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


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

Low match AROMATASE DEFICIENCY


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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Cirrhosis

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Seizures Anemia Intrauterine growth retardation Carcinoma Hepatic steatosis Cataract Short stature Alopecia Cerebral calcification Strabismus Pain Osteoporosis Ataxia Testicular atrophy Hearing impairment Congestive heart failure Hepatocellular carcinoma Elevated hepatic transaminase Obesity Abdominal pain Abnormality of the liver

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Abnormality of the genital system Muscular hypotonia of the trunk Lymphedema Hepatosplenomegaly Spasticity Edema Nail dystrophy Generalized hypotonia Hypospadias Thrombocytopenia Hypertonia Ventriculomegaly Optic atrophy Microvesicular hepatic steatosis Postnatal growth retardation Microcephaly Abnormality of skin pigmentation Diabetes mellitus Hepatic failure Abnormality of the kidney Delayed skeletal maturation Dilatation Renal insufficiency Reticulated skin pigmentation Cardiomyopathy Arrhythmia Hypogonadism Osteopenia Hypopigmentation of the skin Dilated cardiomyopathy Amenorrhea Bone marrow hypocellularity Insulin resistance Hyperpigmentation of the skin Telangiectasia Hypodontia Pancytopenia Decreased testicular size Gastrointestinal hemorrhage Round face Pigmentary retinopathy Delayed puberty Fatigue Clinodactyly Neoplasm of the liver Ventricular septal defect Hepatic fibrosis Type II diabetes mellitus Downslanted palpebral fissures Hepatitis Hypertension Hypertelorism Intellectual disability, mild Motor delay Pulmonic stenosis Chronic hepatic failure Abnormal pupil morphology Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Female pseudohermaphroditism Peripheral arterial stenosis Splenomegaly Cholestatic liver disease Ambiguous genitalia, female Nail dysplasia Butterfly vertebral arch Thyroid carcinoma Reduced number of intrahepatic bile ducts Peripheral pulmonary artery stenosis Multiple small medullary renal cysts Unicoronal synostosis Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Intrahepatic biliary atresia Biliary atresia Fat malabsorption Abnormal anterior chamber morphology Abnormality of the vasculature Butterfly vertebrae Arterial stenosis Rectourethral fistula Hypopigmentation of the fundus Eunuchoid habitus Renal tubular acidosis Dilatation of the cerebral artery Renal dysplasia Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Pointed chin Abnormal vertebral morphology Exotropia Abnormal form of the vertebral bodies Macroorchidism, postpubertal Cholestasis Hypertriglyceridemia Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Spina bifida occulta Hypercholesterolemia Exocrine pancreatic insufficiency Long nose Posterior embryotoxon Abnormality of the ureter Enlarged polycystic ovaries Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Female infertility Chorioretinal atrophy Corneal dystrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Portal hypertension Renal hypoplasia/aplasia Recurrent infections Arthralgia Ovarian cyst Sensorineural hearing impairment Micropenis Rod-cone dystrophy Blindness Perineal hypospadias Feeding difficulties 3-Methylglutaconic aciduria Elevated transferrin saturation Status epilepticus Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Increased serum iron Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Retinal degeneration Attenuation of retinal blood vessels 3-Methylglutaric aciduria Postnatal microcephaly Aciduria Sudden cardiac death Hypoglycemia Muscle weakness Cystic renal dysplasia Ectopic kidney Prolonged QT interval Hypokinesia Macular edema Microcytic anemia Progressive neurologic deterioration Congenital cataract Abnormality of the cerebral white matter Polydactyly Hyperreflexia Cystoid macular edema Noncompaction cardiomyopathy Penile hypospadias Macroorchidism Clitoral hypertrophy Hypergonadotropic hypogonadism Pleural effusion Azoospermia Generalized hirsutism Hypogonadotrophic hypogonadism Hyperlipidemia Acanthosis nigricans Acne Impotence Cardiomegaly Bilateral cryptorchidism Ascites Male infertility Arthritis Mitral regurgitation Delayed epiphyseal ossification Bone pain Abnormal joint morphology Normochromic microcytic anemia Postural instability Genu valgum Abnormal glucose tolerance Infertility Specific learning disability Restrictive cardiomyopathy Hirsutism Acute hepatic failure Abnormality of the cardiovascular system Tall stature Increased reactive oxygen species production Increased serum ferritin Epidermal acanthosis Pericarditis Osteomalacia Primary amenorrhea Arthropathy Alcoholism Atrial septal defect Prominent nose Interstitial pulmonary abnormality Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Shawl scrotum Macrocytic anemia Broad palm Mild short stature Large earlobe Radial deviation of finger Increased intracranial pressure Generalized-onset seizure Hypoplasia of the maxilla Single transverse palmar crease Short foot Short palm Widow's peak Volvulus Joint hypermobility Abnormality of the dentition Carious teeth Small for gestational age Leukemia Cerebral cortical atrophy Hyperhidrosis Hyporeflexia Immunodeficiency Respiratory distress Broad philtrum Visual impairment Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Polymicrogyria Cleft upper lip Gliosis Giant cell hepatitis Scoliosis Subacute progressive viral hepatitis Viral hepatitis Hepatic necrosis Portal vein thrombosis Epigastric pain Embryonal neoplasm Elevated alpha-fetoprotein Ptosis Chronic infection Chronic hepatitis Hepatoblastoma Micronodular cirrhosis Hypertyrosinemia Thrombocytosis Vomiting Cleft palate Flexion contracture Hypermetropia Abnormal heart morphology Attention deficit hyperactivity disorder Camptodactyly Joint laxity Pes planus Umbilical hernia Hyperactivity Inguinal hernia Pectus excavatum Brachydactyly Depressivity Hernia Syndactyly Short nose Behavioral abnormality Short neck Anteverted nares Wide nasal bridge Sepsis Oligohydramnios Vesicoureteral reflux Frontal bossing Brachycephaly Upslanted palpebral fissure Prominent forehead Clinodactyly of the 5th finger Areflexia Visual loss Abnormality of the skeletal system Myopia Macrotia Depressed nasal bridge Abnormal facial shape Micrognathia Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Acidosis Coarse facial features Brittle scalp hair Pruritus Triangular face Microcornea Short distal phalanx of finger Flat face Stage 5 chronic kidney disease Anal atresia Malabsorption Broad forehead Jaundice Short philtrum Stroke Retinopathy Scarring Craniosynostosis Protruding ear Conductive hearing impairment Deeply set eye Fragile teeth Phimosis Decreased fetal movement Dermal atrophy Pulmonary fibrosis Flared metaphysis Squamous cell carcinoma Epiphora Neonatal respiratory distress Myelodysplasia Pterygium Anosmia Abnormality of coagulation Abnormal intestine morphology Leukopenia Sparse eyelashes Conjunctivitis Horseshoe kidney Truncal ataxia Sparse scalp hair Premature graying of hair Increased antibody level in blood Abnormal leukocyte morphology Ridged nail Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Aplastic anemia Restrictive ventilatory defect Oral leukoplakia Chromosome breakage Blepharitis Premature loss of teeth Hodgkin lymphoma Generalized hyperpigmentation Acute myeloid leukemia Myeloid leukemia Maternal virilization in pregnancy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Skeletal dysplasia, related diseases and genetic alterations Tremor and Brachycephaly, related diseases and genetic alterations Spasticity and Fever, related diseases and genetic alterations Breast carcinoma and Spastic paraplegia, related diseases and genetic alterations Sensorineural hearing impairment and Hypertonia, related diseases and genetic alterations Anemia and Abnormality of the eye, related diseases and genetic alterations

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