Cryptorchidism, and Hepatomegaly

Diseases related with Cryptorchidism and Hepatomegaly

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


Top matches:

High 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

High 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

High 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

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Other less relevant matches:

High match PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6


Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

High match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

High match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

High match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

High match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hepatomegaly

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Abnormality of the face Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Abdominal wall defect Global developmental delay Micrognathia Patent ductus arteriosus Embryonal neoplasm Generalized hypotonia Macroglossia Failure to thrive Intrauterine growth retardation Growth delay

Rare Symptoms - Less than 30% cases


Oligohydramnios Retrognathia Cardiomegaly Premature birth Camptodactyly Neonatal hypoglycemia Nevus flammeus Diastasis recti Edema Micropenis Large for gestational age Polydactyly Auricular pit Anterior creases of earlobe Feeding difficulties Cataract Spasticity Enlarged kidney Type II diabetes mellitus Visceromegaly Neoplasm Psoriasiform dermatitis Overgrowth Thrombocytopenia Omphalocele Hypoglycemia Inguinal hernia Hypothyroidism Abnormal heart morphology Abnormality of the outer ear Vomiting Splenomegaly Delayed speech and language development Abnormality of earlobe Hypospadias Cleft palate Hemihypertrophy Cutaneous photosensitivity Hypertelorism Pancytopenia Postauricular pit Myelodysplasia Prune belly Large beaked nose Leukocytosis Combined immunodeficiency Telangiectasia of the skin Biparietal narrowing Severe combined immunodeficiency Acute leukemia Abnormality of chromosome stability Abnormality of bone marrow cell morphology Bird-like facies Strabismus Tethered cord Coarse facial features Apnea Low anterior hairline Renal cyst Supernumerary nipple Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Telangiectasia Short neck Abnormal facial shape Lactic acidosis Frontal bossing Respiratory insufficiency Cardiomyopathy Congestive heart failure Abnormality of cardiovascular system morphology Acidosis Hypertrophic cardiomyopathy Wide mouth Short philtrum Prominent nasal bridge Pulmonic stenosis Metabolic acidosis Flexion contracture Increased serum lactate Aciduria Renal hypoplasia Aortic valve stenosis Cardiac arrest Spontaneous abortion Severe muscular hypotonia Hyperammonemia Rocker bottom foot Severe failure to thrive Severe lactic acidosis Hypertension Low-set ears Anemia Cholestasis Brachydactyly Talipes equinovarus Lymphoma Diarrhea Long philtrum Dyspnea Abnormal cardiac septum morphology Hepatic failure Pulmonary hypoplasia Ascites Decreased fetal movement Large fontanelles Muscular hypotonia Lymphedema Decreased liver function Abnormal intestine morphology Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Short stature Ataxia Hypoplasia of penis Neonatal respiratory distress Thin vermilion border Chronic infection Hepatic fibrosis Hepatocellular carcinoma Thrombocytosis Neoplasm of the liver Hypertyrosinemia Micronodular cirrhosis Hepatoblastoma Chronic hepatitis Elevated alpha-fetoprotein Hepatic steatosis Giant cell hepatitis Epigastric pain Portal vein thrombosis Hepatic necrosis Viral hepatitis Subacute progressive viral hepatitis Hyperreflexia Ventriculomegaly Hepatitis Cirrhosis Cerebellar hypoplasia Retinal degeneration Hearing impairment Sensorineural hearing impairment Blindness Hypertonia Renal insufficiency Rod-cone dystrophy Elevated hepatic transaminase Muscular hypotonia of the trunk Pigmentary retinopathy Abnormality of the liver Status epilepticus Attenuation of retinal blood vessels Macular edema Cystoid macular edema Motor delay Fatigue Obesity Abdominal pain Carcinoma Dilatation Abnormality of the cerebral white matter Lymphadenopathy Abnormality of the skeletal system Hypoplastic fingernail Small anterior fontanelle Neonatal insulin-dependent diabetes mellitus Labial hypertrophy Abnormality of the placenta Intellectual disability Epicanthus Wide nasal bridge Immunodeficiency Prominent occiput Recurrent infections Clinodactyly of the 5th finger Upslanted palpebral fissure Brachycephaly Abnormality of the nervous system Telecanthus Erythema Leukemia Malabsorption Shallow orbits Precocious puberty Congenital cataract Autistic behavior Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Cystic renal dysplasia Muscle weakness Clinodactyly Polyhydramnios Facial asymmetry Gingival overgrowth Nephroblastoma Abnormality of the ureter Rhabdomyosarcoma High palate Joint laxity Postnatal growth retardation Generalized myoclonic seizures Prominent nose Dehydration 3-Methylglutaconic aciduria



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