Hepatomegaly, and Hernia

Diseases related with Hepatomegaly and Hernia

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

Top matches:

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Other less relevant matches:

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

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

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 Hernia

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Macroglossia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the face Hypertension Hepatosplenomegaly Enlarged kidney Developmental regression Inguinal hernia Cirrhosis Ventricular septal defect Cryptorchidism Seizures Generalized hypotonia Abdominal wall defect Coarse facial features Abnormal facial shape

Rare Symptoms - Less than 30% cases

Thin upper lip vermilion Omphalocele Abdominal pain Hearing impairment Premature birth Abnormality of metabolism/homeostasis Macrocephaly Optic atrophy Intellectual disability, mild Glaucoma Elevated hepatic transaminase Hypoglycemia Renal cyst Long philtrum Epicanthus Low-set ears Cleft palate Esophageal varix Abnormality of the genital system Abnormality of the outer ear Cognitive impairment Embryonal neoplasm Intellectual disability Labial hypertrophy Abnormality of earlobe Gingival overgrowth Patent ductus arteriosus Intrauterine growth retardation High palate Auricular pit Anterior creases of earlobe Large for gestational age Portal hypertension Visceromegaly Hemihypertrophy Diastasis recti Nevus flammeus Neonatal hypoglycemia Mandibular prognathia Scoliosis Protuberant abdomen Neoplasm Overgrowth Hypertriglyceridemia Hiatus hernia Epidermal acanthosis Ascites Short stature Failure to thrive Anemia Fever Hepatic steatosis Vomiting Weight loss Hepatic fibrosis Thoracic hypoplasia Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Splenic cyst Long hallux Episodic abdominal pain Hypoplastic nipples Pes cavus Spinal deformities Arthralgia Myalgia Arthritis Buphthalmos Camptodactyly of finger Skin rash Delayed puberty 2-3 toe syndactyly Ichthyosis Cholelithiasis Hyperkinesis Nephropathy Sleep apnea Sensorineural hearing impairment Generalized hirsutism Nephrotic syndrome Hoarse voice Sagittal craniosynostosis Thoracolumbar scoliosis Recurrent infections Abnormality of the liver Pneumonia Abnormality of the mitochondrion Diabetes mellitus Periorbital fullness Prolonged partial thromboplastin time Respiratory failure Hypothyroidism Osteopenia Upper airway obstruction Atrial septal defect Hyperlordosis Craniosynostosis Sepsis Congenital hypothyroidism Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Cholestasis Wide anterior fontanel Polycystic kidney dysplasia Congenital glaucoma Dysostosis multiplex Conjunctivitis Abnormality of the skeletal system Prolonged prothrombin time Depressed nasal bridge Vasculitis Progressive neurologic deterioration Low posterior hairline Absent speech Flexion contracture Abnormal retinal morphology Lower limb hyperreflexia Feeding difficulties Visual impairment Hypermelanotic macule Intellectual disability, severe Blindness Global brain atrophy Hypertonia Loss of consciousness Midface retrusion Cerebral visual impairment Visual loss Developmental stagnation Myoclonus Cerebral cortical atrophy Feeding difficulties in infancy Irritability Pallor Generalized tonic-clonic seizures Retinal degeneration Abnormality of skin pigmentation Inability to walk Choreoathetosis Increased serum lactate Generalized-onset seizure Status epilepticus Muscular hypotonia Nystagmus Cranial nerve paralysis High, narrow palate Abnormal palate morphology Urticaria Abnormality of the voice Tetraparesis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Uveitis Broad foot Abnormality of the nose Recurrent aphthous stomatitis Episcleritis Hernia of the abdominal wall Memory impairment Joint hypermobility Multifocal epileptiform discharges Renal amyloidosis Smooth philtrum Synophrys Attention deficit hyperactivity disorder Hyperactivity Microcephaly Prominent forehead Frontal bossing Wide nasal bridge Pain Hypertelorism Developmental stagnation at onset of seizures Hyporeflexia of upper limbs Restrictive ventilatory defect Lipoatrophy Growth delay Abnormality of lipid metabolism Jaundice Scarring Malabsorption Hepatic failure Abdominal distention Pulmonary arterial hypertension Leukodystrophy Increased body weight Atherosclerosis Hyperlipidemia Hypercholesterolemia Cachexia Malnutrition Steatorrhea Acute hepatic failure Esophageal leukoplakia Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Adrenal calcification Muscle weakness Delayed speech and language development Clinodactyly Abnormal heart morphology Micropenis Polyhydramnios Autistic behavior Diarrhea Abnormal large intestine morphology Nephroblastoma Squamous cell carcinoma Dysphagia Edema Hyperkeratosis Gastroesophageal reflux Carcinoma Nausea and vomiting Palmoplantar keratoderma Postural instability Ectodermal dysplasia Gastrointestinal hemorrhage Thickened skin Palmoplantar hyperkeratosis Poor suck Oral-pharyngeal dysphagia Poor appetite Abnormality of esophagus physiology Parakeratosis Abnormality of the mouth Esophagitis Follicular hyperkeratosis Oral leukoplakia Hypergranulosis Stomach cancer Esophageal stricture Plantar hyperkeratosis Clubbing of toes Abnormality of the mediastinum Diffuse palmoplantar hyperkeratosis Esophageal neoplasm Esophageal carcinoma Facial asymmetry Abnormality of the ureter Postauricular pit Reduced intrathoracic adipose tissue Skeletal muscle hypertrophy High pitched voice Polyphagia Decreased fertility Long foot Bone cyst Thick hair Acute pancreatitis Generalized lipodystrophy Decreased fertility in females Congenital generalized lipodystrophy Decreased serum leptin Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Cystic angiomatosis of bone Clitoral hypertrophy Generalized muscular appearance from birth Strabismus Hypospadias Polydactyly Apnea Psoriasiform dermatitis Supernumerary nipple Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Tethered cord Prune belly Large hands Hyperinsulinemia Rhabdomyosarcoma Small anterior fontanelle Micrognathia Retrognathia Joint laxity Postnatal growth retardation Generalized myoclonic seizures Prominent nose Dehydration Oligohydramnios Cardiomegaly Precocious puberty Neonatal respiratory distress Prominent occiput Shallow orbits Hypoplastic fingernail Neonatal insulin-dependent diabetes mellitus Lipodystrophy Abnormality of the placenta Cardiomyopathy Macrotia Hypertrophic cardiomyopathy Hirsutism Triangular face Hypertrichosis Nephrolithiasis Tall stature Insulin resistance Accelerated skeletal maturation Acanthosis nigricans Pancreatitis Polycystic ovaries Expressive language delay


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Focal seizures, related diseases and genetic alterations Feeding difficulties and Retrognathia, related diseases and genetic alterations