Hepatomegaly, and Renal cell carcinoma

Diseases related with Hepatomegaly and Renal cell carcinoma

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

Top matches:

Medium match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Other less relevant matches:

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Renal cell carcinoma

Symptoms // Phenotype % cases
Nephroblastoma Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Renal cell carcinoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Overgrowth

Uncommon Symptoms - Between 30% and 50% cases

Macroglossia

Common Symptoms - More than 50% cases

Enlarged kidney

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Large for gestational age

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormality of the kidney Visceromegaly Seizures Macrocephaly Nevus flammeus Inguinal hernia Proptosis Umbilical hernia Diastasis recti Omphalocele Hypoglycemia Global developmental delay Abnormal facial shape Muscular hypotonia Posterior helix pit Ventricular septal defect Congenital diaphragmatic hernia Hernia Abdominal distention Wide nasal bridge Neonatal hypoglycemia Hemihypertrophy Cardiomegaly Abnormal heart morphology Mandibular prognathia High, narrow palate Respiratory distress Epicanthus Hepatosplenomegaly Capillary hemangioma Embryonal neoplasm Abnormality of the outer ear Abdominal wall defect Rhabdomyosarcoma Tall stature Facial asymmetry Agenesis of corpus callosum Premature birth Anterior creases of earlobe Hearing impairment Short nose Accelerated skeletal maturation Hypertension Atrial septal defect Nevus Hepatoblastoma Edema Cardiomyopathy Dandy-Walker malformation Retinopathy Camptodactyly of finger Prominent metopic ridge Neuroblastoma Hydronephrosis Broad palm Intrauterine growth retardation Abnormality of cardiovascular system morphology Vesicoureteral reflux Depressed nasal bridge Wide mouth Coarse facial features Hypothyroidism Nephroblastomatosis Scoliosis Micrognathia

Rare Symptoms - Less than 30% cases

Low-set ears Hypospadias Anteverted nares Dolichocephaly Ascites Prominent forehead Posteriorly rotated ears Intestinal malrotation Pulmonary fibrosis Short toe Cleft upper lip Recurrent infections Carcinoma Supernumerary nipple Short foot Retrognathia Renal dysplasia Muscular hypotonia of the trunk Prominent occiput Long face Large fontanelles Nephrolithiasis Sleep apnea Relative macrocephaly Hypercalciuria Gonadoblastoma Hyperactivity Ureteral duplication Renal cyst Postaxial polydactyly Facial hemangioma Adrenocortical carcinoma Polydactyly Adrenocortical cytomegaly Neurological speech impairment Obesity Cleft lip Polycystic kidney dysplasia Upslanted palpebral fissure Syndactyly Hypoplasia of penis Intellectual disability, severe Short neck Talipes equinovarus Growth abnormality Neurodevelopmental delay Midface retrusion Hamartoma Polysplenia Renal neoplasm Broad alveolar ridges Pancreatic islet-cell hyperplasia Thymus hyperplasia Abnormality of pancreas morphology Intellectual disability, moderate Cataract Microcephaly Congenital megaureter Abnormality of the dentition Abnormality of the optic nerve Ventriculomegaly Hypoplasia of the corpus callosum Pericarditis Feeding difficulties Limitation of joint mobility Nephropathy Lymphadenopathy Strabismus Failure to thrive Growth delay Short stature High palate Abnormality of the ureter Patent ductus arteriosus Deeply set eye Prominent nose Full cheeks Synophrys Abnormality of the face Auricular pit Preauricular pit Vertebral segmentation defect Vertebral fusion Ganglioneuroma Long philtrum Flank pain Prune belly Renal cortical cysts Abnormality of digit Transposition of the great arteries Abnormal lung lobation Teratoma Opsoclonus Overgrowth of external genitalia Abdominal mass Abnormality of the voice Congenital mesoblastic nephroma Bilateral talipes equinovarus Cupped ear Myopia Hydroureter Optic atrophy Bundle branch block Vitreomacular adhesion Unilateral cryptorchidism Prolonged QT interval Pancreatoblastoma Fibrous hamartoma Abnormality of the hand Pancreatic hyperplasia Flexion contracture Diaphragmatic eventration Dental malocclusion Abnormality of the tongue Pulmonary hypoplasia Nephrocalcinosis Short sacroiliac notch 2-3 finger syndactyly Recurrent urinary tract infections Narrow sacroiliac notch Postural instability Broad secondary alveolar ridge Birth length greater than 97th percentile Penoscrotal transposition Joint hypermobility Short 2nd finger Attention deficit hyperactivity disorder Duplication of renal pelvis Six lumbar vertebrae Conductive hearing impairment Respiratory failure Submucous cleft lip Cleft lower lip Myoclonus Intellectual disability, mild Cyst of the ductus choledochus Prominent supraorbital ridges Large hands Pancreatic cysts Flared iliac wings Hypoplasia of the thymus Nonimmune hydrops fetalis Low hanging columella Duodenal atresia Furrowed tongue Ketosis Abnormality of the helix Foot polydactyly Protuberant abdomen Aplasia/Hypoplasia of the abdominal wall musculature Penoscrotal hypospadias Aniridia Ankyloglossia Increased IgE level Chordee Congenital hypothyroidism Cervical ribs Meckel diverticulum Broad toe Tibial bowing Abnormality of the ear Broad foot Camptodactyly Narrow palpebral fissure Accessory oral frenulum Downslanted palpebral fissures Delayed peripheral myelination Hyperechogenic pancreas Small nail Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Respiratory insufficiency Atrophy of the spinal cord Hydrocephalus Deep plantar creases Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Underdeveloped supraorbital ridges Abnormality of the skeletal system Blindness Dislocated radial head Postaxial hand polydactyly Bifid uvula Broad nasal tip Nail dysplasia Retinal detachment Thick vermilion border Wide nose Short distal phalanx of finger Short palm Thin vermilion border Pectus excavatum Abnormality of the ribs Pulmonic stenosis Toe syndactyly Congenital cataract Finger syndactyly Irritability Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Arrhythmia Ulnar deviation of finger Biparietal narrowing Dilatation Severe global developmental delay Tapered finger Everted lower lip vermilion Hirsutism Oral cleft Talipes Narrow chest Broad thumb Platyspondyly Cerebral visual impairment Wide intermamillary distance Preauricular skin tag Hoarse voice Apnea Cardiac arrest Webbed neck Congenital hip dislocation Gastroesophageal reflux Cerebral cortical atrophy Multicystic kidney dysplasia Abnormality of the genital system Convex nasal ridge Short thorax Narrow palate Cerebellar vermis hypoplasia Overlapping toe Hypoplasia of the brainstem Elbow dislocation Trigonocephaly CNS hypomyelination Hemangioma Sacral dimple Joint dislocation Elbow flexion contracture Narrow forehead Low anterior hairline Bradycardia Clumsiness Decreased body weight Heterotopia Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound High myopia Ulnar deviation of the wrist Interrupted aortic arch Pain Infertility Type II diabetes mellitus Pigmentary retinopathy Cyanosis Growth hormone deficiency Decreased antibody level in blood Triangular face Hypodontia Cirrhosis Astigmatism Delayed puberty Dental crowding Small for gestational age Broad forehead Abnormality of the nervous system Diabetes mellitus Hypogonadism Severe short stature Depressivity Congestive heart failure Frontal bossing Epidermal acanthosis Insulin resistance Motor delay Myocardial fibrosis Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Increased body weight Scaphocephaly Insulin-resistant diabetes mellitus Slender long bone High pitched voice Premature ovarian insufficiency Cachexia Reduced tendon reflexes Acanthosis nigricans Pointed chin Dysarthria Hemifacial hypertrophy Thrombocytopenia Papule Joint swelling Keratitis Aortic aneurysm Skin ulcer Hyperpigmentation of the skin Pulmonary arterial hypertension Stage 5 chronic kidney disease Ichthyosis Dry skin Skin rash Abnormal cranial nerve morphology Abnormality of the liver Erythema Facial palsy Photophobia Arthralgia Dyspnea Glaucoma Visual loss Fever Xerostomia Abnormality of the retinal vasculature Asymmetry of the thorax Delayed speech and language development Mild global developmental delay Abnormal eyebrow morphology Hematuria Jaundice Brachycephaly Malar flattening Autistic behavior Micropenis Clinodactyly Muscle weakness Synovitis Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Polyarticular arthritis Abnormal choroid morphology Abnormal salivary gland morphology Iridocyclitis Posterior uveitis Erythema nodosum Immunodeficiency Pneumonia Subchorionic septal cyst Lumbar scoliosis Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Fetal ascites Abnormality of upper lip Long upper lip Hypertrophic cardiomyopathy Intestinal atresia Femoral hernia Anemia Thickened helices Hypoxemia Volvulus Thick upper lip vermilion Global brain atrophy Hyperinsulinemia Autism Feeding difficulties in infancy Bilateral single transverse palmar creases Asymmetric growth Large intestinal polyposis Abnormality of the shape of the midface Large placenta Branchial cyst Infra-orbital crease Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Choroideremia Abnormality of earlobe Poor speech Pseudohypoparathyroidism Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Polycythemia Melanocytic nevus Redundant skin Arnold-Chiari malformation Wide anterior fontanel Tented upper lip vermilion Hepatic fibrosis Muscular dystrophy Cellulitis Discoid lupus rash Liver abscess Chorioretinitis Rectal abscess Recurrent bacterial skin infections Eczematoid dermatitis Granulomatosis Peritonitis Pulmonary infiltrates Colitis Recurrent Staphylococcus aureus infections Increased antibody level in blood Osteomyelitis Intestinal obstruction Glomerulonephritis Recurrent skin infections Recurrent pneumonia Aspiration Inflammatory abnormality of the skin Sepsis Lymphadenitis Decreased activity of NADPH oxidase Open mouth High forehead Status epilepticus Lumbar hyperlordosis Abnormality of the cardiovascular system Specific learning disability Round face Flat face Smooth philtrum Abnormality of the pinna Hyperlordosis Cerebral atrophy Recurrent Aspergillus infections Renal insufficiency Ptosis Deficiency or absence of cytochrome b(-245) Recurrent Burkholderia cepacia infections Negative nitroblue tetrazolium reduction test Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent E. coli infections Recurrent Serratia marcescens infections Bladder carcinoma Recurrent Klebsiella infections Two carpal ossification centers present at birth


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