Hepatomegaly, and Gynecomastia

Diseases related with Hepatomegaly and Gynecomastia

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

Top matches:

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

High match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

Medium match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Gynecomastia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Pneumonia Short stature Hearing impairment Growth delay Sensorineural hearing impairment Epicanthus Patent ductus arteriosus Abnormality of the kidney Hepatosplenomegaly Hyperhidrosis Overgrowth Intellectual disability Ataxia Nystagmus Strabismus Cognitive impairment Encephalopathy Microcephaly Hypoglycemia Coarse facial features Peripheral neuropathy Diabetes mellitus Hypogonadism Scoliosis Retinopathy Hyperpigmentation of the skin

Rare Symptoms - Less than 30% cases

Epidermal acanthosis Anemia Hypertriglyceridemia Aspiration Ptosis Hypergonadotropic hypogonadism Cirrhosis Sleep apnea Lipodystrophy Psoriasiform dermatitis Hyperglycemia Cardiomegaly Decreased testicular size Severe sensorineural hearing impairment Wide intermamillary distance Growth hormone deficiency Inguinal hernia Generalized hirsutism Macroglossia Thin upper lip vermilion Lymphadenopathy Abnormality of the foot Delayed puberty Hypotrichosis Apnea Hepatic steatosis Conductive hearing impairment Ascites Hyperactivity Hypoventilation Enlarged kidney Autistic behavior Weight loss Fatigue Polydactyly Abdominal pain Myoclonus Long philtrum Cardiomyopathy Elevated hepatic transaminase Congestive heart failure Large for gestational age Neonatal hypoglycemia Hemihypertrophy Respiratory distress Aspiration pneumonia Short neck Respiratory insufficiency Optic atrophy Motor delay Visual impairment Delayed speech and language development Feeding difficulties Osteoporosis Pain Arthralgia Muscular hypotonia Cerebral atrophy Dyspnea Pes planus Autism Hypothyroidism Impaired temperature sensation Exocrine pancreatic insufficiency Acne Hyperreflexia Wide nasal bridge Fever Osteolysis Frontal bossing Truncal obesity Ventricular septal defect Ventriculomegaly Hypertelorism Intellectual disability, mild Cholelithiasis Thickened skin Gastrointestinal hemorrhage Edema Hyperkeratosis Limitation of joint mobility Malabsorption Clinodactyly Hyperostosis frontalis interna Exudative retinopathy Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Retinal atrophy Recurrent cystitis Glue ear Abnormal renal morphology Unilateral breast hypoplasia Dilatation of the bladder Nonproductive cough Thickened ears Abnormal adipose tissue morphology Chronic active hepatitis Granular macular appearance Decreased HDL cholesterol concentration Receptive language delay Menstrual irregularities Chronic obstructive pulmonary disease Recurrent bronchitis Widely-spaced incisors Right ventricular hypertrophy Ketoacidosis Gingivitis Pendular nystagmus Babinski sign Tubulointerstitial nephritis Abnormality of the femoral head Attenuation of retinal blood vessels Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin Chronic fatigue EEG with occipital slowing Elevated serum creatinine Precocious puberty in females Acute hepatic failure High-frequency sensorineural hearing impairment Tubular atrophy Abnormal retinal artery morphology Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Increased circulating androgen level Abnormality of the pituitary gland Childhood-onset truncal obesity Abnormal renal physiology First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Retinal pigment epithelial atrophy Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Disinhibition Hepatic encephalopathy Abnormal left ventricle morphology Endocardial fibroelastosis Urethral stenosis Peripheral visual field loss Testicular atrophy Tubulointerstitial fibrosis Achromatopsia Acute pancreatitis Elevated C-reactive protein level Chills Pyelonephritis Arteriosclerosis Urinary retention Abnormality of the optic disc Alopecia of scalp Multifocal atrial tachycardia Albuminuria ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Poor fine motor coordination Urethral obstruction Squared iliac bones Broad foot Posterior subcapsular cataract Renovascular hypertension Abnormal muscle tone Decreased glomerular filtration rate Female hypogonadism Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Oligomenorrhea Lumbar scoliosis Poor coordination Hyperventilation Abnormality of the urethra Chronic infection Abnormal spermatogenesis Vertical nystagmus Arthrogryposis multiplex congenita Acidosis Abnormality of the vasculature Postauricular pit Auricular pit Prune belly Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Tethered cord Abnormality of earlobe Visceromegaly Diastasis recti Skin tags Nevus flammeus Low-set ears Central hypotonia Syringomyelia Neuroblastoma Supernumerary nipple Abnormality of the outer ear Abnormality of the face Omphalocele Premature birth Renal cyst Umbilical hernia Hypospadias Cryptorchidism Abnormal facial shape High palate Uraciluria Thoracic hypoplasia Spinal deformities Long hallux Prolonged prothrombin time Abnormality of the mitochondrion Periorbital fullness Prolonged partial thromboplastin time Upper airway obstruction Dysostosis multiplex Episodic abdominal pain Protuberant abdomen Hypoplastic nipples 2-3 toe syndactyly Macrocephaly Hyperkinesis Hoarse voice Low posterior hairline Memory impairment High, narrow palate Joint hypermobility Smooth philtrum Synophrys Attention deficit hyperactivity disorder Developmental regression Prominent forehead Abnormality of metabolism/homeostasis Cleft palate Reduced dihydropyrimidine dehydrogenase activity Lactic acidosis Follicular hyperplasia Abnormal bleeding Muscular hypotonia of the trunk Reduced visual acuity Cerebral cortical atrophy Intellectual disability, severe Spasticity Micrognathia Abnormal circulating insulin level Increased circulating free fatty acid level Enlarged tonsils Increased hepatic glycogen content Hypoglycemic coma Abnormality of the coagulation cascade Nonketotic hypoglycemia Hypoglycemic seizures Hypoketotic hypoglycemia Recurrent hypoglycemia Flushing Generalized-onset seizure Autoimmunity Increased serum pyruvate Rotary nystagmus Organic aciduria Progressive microcephaly Increased serum lactate Adducted thumb Mild short stature Recurrent aspiration pneumonia Agenesis of corpus callosum Stomatitis Diffuse cerebral atrophy Breast carcinoma Delayed gross motor development Leukopenia Spastic tetraplegia Febrile seizures Tetraplegia Iris coloboma Lethargy Coloboma Thrombocytopenia Abnormality of coagulation Microphthalmia Hypertonia Diarrhea Neoplasm Bilateral basal ganglia lesions Abnormal isoelectric focusing of serum transferrin Abnormality of the posterior cranial fossa Hyperintensity of cerebral white matter on MRI Pes valgus Abnormal thrombosis Stroke-like episode Inverted nipples Insulin-resistant diabetes mellitus Hypogonadotrophic hypogonadism Autoimmune thrombocytopenia Elevated erythrocyte sedimentation rate Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Increased antibody level in blood Histiocytosis Hallux valgus Leukocytosis Stridor Azoospermia Plagiocephaly Type I diabetes mellitus Elbow flexion contracture Gingival overgrowth Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Skin nodule Reticulocytopenia Epistaxis Bilateral camptodactyly Renal insufficiency Kyphosis Dystonia Behavioral abnormality Abnormality of the dentition Vomiting Blindness Hypertension Cataract Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Cervical lymphadenopathy Chronic rhinitis Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Blue sclerae Bilateral sensorineural hearing impairment Obesity Bone pain Abnormal cortical bone morphology Abnormal hair pattern Neoplasm of the lung Growth hormone excess Joint swelling Aseptic necrosis Osteomyelitis Genu varum Cerebral palsy Neoplasm of the skin Abnormality of the fingernails Abnormality of epiphysis morphology Peptic ulcer Palmoplantar keratoderma Small hand Arthritis Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Increased serum ferritin Hepatocellular carcinoma Arthropathy Impotence Joint dislocation Cholestasis Vertigo Seborrheic dermatitis Abnormal hair quantity Mitral valve prolapse Micropenis Amenorrhea Full cheeks Recurrent fractures Polyneuropathy Flat face Cleft upper lip Ichthyosis Pectus carinatum Abnormal cardiac septum morphology Camptodactyly Low-set, posteriorly rotated ears Proptosis Posteriorly rotated ears Eczematoid dermatitis Severe short stature Delayed skeletal maturation Abnormal heart morphology Hernia Atrial septal defect Hydrocephalus Anteverted nares Brachydactyly Flexion contracture Clubbing of toes Cutis gyrata of scalp Abnormality of bone marrow cell morphology Dilatation Depressivity Thoracic scoliosis Atherosclerosis Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Acanthosis nigricans Polydipsia Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Increased body weight Horizontal nystagmus Recurrent pneumonia Short toe Sinusitis Hepatic fibrosis Decreased liver function Insulin resistance Portal hypertension Nephritis Anorexia Pericardial effusion Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Abnormal retinal morphology Chronic otitis media Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Diabetes insipidus Hyperostosis Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Abnormality of retinal pigmentation Chronic diarrhea Visual loss Postnatal growth retardation Ophthalmoplegia Hypermetropia Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Scarring Sparse hair Abnormality of the liver Pallor Respiratory tract infection Irritability Carious teeth Proteinuria Myalgia Deeply set eye Photophobia Jaundice Kyphoscoliosis Gastroesophageal reflux Respiratory failure Rod-cone dystrophy Recurrent respiratory infections Constipation Hyporeflexia Pulmonic stenosis Infertility Left ventricular hypertrophy Round face Recurrent urinary tract infections Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Type II diabetes mellitus Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Progressive visual loss Otitis media Urinary incontinence Dry skin Vesicoureteral reflux Asthma Abdominal distention Sleep disturbance Nephropathy Retinal dystrophy Hirsutism Hepatic failure Tachycardia Nausea Stage 5 chronic kidney disease Retinal degeneration Expressive language delay


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