Hepatomegaly, and Bulbous nose

Diseases related with Hepatomegaly and Bulbous nose

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


Top matches:

High match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

High match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

High match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

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Other less relevant matches:

High match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

High match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

High match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Top 5 symptoms//phenotypes associated to Hepatomegaly and Bulbous nose

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Growth delay Low-set ears Microcephaly Full cheeks Cardiomyopathy Depressed nasal bridge Abnormal facial shape Wide nasal bridge Long philtrum Congestive heart failure Immunodeficiency Thrombocytopenia Epicanthus Failure to thrive Ventriculomegaly Elevated hepatic transaminase Polyhydramnios Strabismus Scoliosis Ptosis Micrognathia Posteriorly rotated ears Cardiomegaly Intellectual disability, mild High palate Anteverted nares Intrauterine growth retardation Hepatic failure Splenomegaly Short nose Hernia Abnormality of cardiovascular system morphology Sloping forehead Narrow forehead Sleep apnea Atrial septal defect Patent ductus arteriosus Apnea Optic atrophy Thick vermilion border Ventricular septal defect Midface retrusion Abnormality of the skeletal system Hepatosplenomegaly Feeding difficulties in infancy Thin vermilion border Inguinal hernia Thin upper lip vermilion Deeply set eye Hypertelorism Thickened skin Cryptorchidism Elevated serum creatine phosphokinase Malar flattening Prominent forehead Long face High forehead Hypoglycemia Behavioral abnormality Hydronephrosis Umbilical hernia

Rare Symptoms - Less than 30% cases


Glaucoma Upslanted palpebral fissure Hypothyroidism Thick upper lip vermilion Increased mean platelet volume Meningocele Frontal bossing Nevus Gingival overgrowth Growth hormone deficiency Webbed neck Dental malocclusion Intestinal malrotation Vesicoureteral reflux Microphthalmia Depressivity Biparietal narrowing Obesity Hypospadias Dandy-Walker malformation Hydrocephalus Short neck Abnormality of skin pigmentation Abnormal lung lobation Peripheral axonal neuropathy Neoplasm Hemangioma Large for gestational age Pericardial effusion Gastroesophageal reflux Autism Dystrophic fingernails Cerebral cortical atrophy Hyperextensibility of the finger joints Telecanthus Nystagmus Cavernous hemangioma Abnormality of the skull Constipation Ataxia Clinodactyly of the 5th finger Delayed skeletal maturation Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Ascites Short philtrum Myalgia Pulmonic stenosis Sensorineural hearing impairment Myopia Macrocephaly Abnormal heart morphology Clinodactyly Macrotia Abnormality of the eye Coarse facial features Wide mouth Dolichocephaly Synophrys Joint hypermobility Abnormal cardiac septum morphology Bilateral sensorineural hearing impairment Scarring Intellectual disability, severe Conductive hearing impairment Cleft palate Abnormal aortic valve morphology Enlarged kidney Sparse eyebrow Overfolded helix Polycystic kidney dysplasia Muscle weakness Narrow palate Myopathy Multicystic kidney dysplasia Coarctation of aorta Distal amyotrophy Broad nasal tip Ventricular hypertrophy Hypertriglyceridemia Hepatic fibrosis Abnormality of vision Tapered finger Hepatic steatosis Subvalvular aortic stenosis Hyperlipidemia Chronic otitis media Neurodevelopmental delay Feeding difficulties Flexion contracture Abnormality of the sternum Multiple cafe-au-lait spots Dyspnea Respiratory failure Brachydactyly Increased nuchal translucency Abnormality of the dentition Talipes equinovarus Aplasia/Hypoplasia of the corpus callosum Hypertension Cafe-au-lait spot Lymphedema Specific learning disability Downturned corners of mouth Cerebral atrophy Abnormality of the liver Polydactyly Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Thickened helices Laryngomalacia Schizophrenia Slow-growing hair Hypopigmented skin patches Abnormality of the auditory canal Purpura Inappropriate crying Abnormal myocardium morphology Abnormality of the testis Delayed CNS myelination Short attention span Hand polydactyly Oral aversion Hypoplasia of the zygomatic bone Premature skin wrinkling Abnormality of the ulna Abnormality of the gastrointestinal tract Woolly hair Cutaneous T-cell lymphoma Cholelithiasis Nasal speech Multiple plantar creases Abnormal hair pattern Abnormality of the optic nerve Eyelid fasciculation Multiple palmar creases Abnormality of dental enamel Hypoplasia of the frontal lobes Hypocalcemia Autoimmunity Functional abnormality of the gastrointestinal tract Laryngeal cleft Abnormality of hair texture Arthritis Multiple lentigines Anxiety Sparse or absent eyelashes Endocarditis Prominent nasal bridge Frontal balding Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Generalized ichthyosis Patchy alopecia Optic nerve dysplasia Excessive wrinkled skin Tongue thrusting Spina bifida Narrow mouth Attention deficit hyperactivity disorder Morphological abnormality of the gastrointestinal tract Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Gastrointestinal hemorrhage Puberty and gonadal disorders Hyperkeratosis pilaris Abnormality of the pulmonary artery Asthma Arachnodactyly Anal atresia Abnormal location of ears Carious teeth Abnormality of the hairline Joint hyperflexibility Recurrent infections Abnormality of the thorax Finger clinodactyly Abnormality of the upper limb Duodenal atresia Acute lymphoblastic leukemia Abnormality of immune system physiology Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Myelodysplasia Aortic regurgitation Holoprosencephaly Microretrognathia Osteolysis Rhizomelia Rhabdomyosarcoma Depressed nasal ridge Short palpebral fissure Ambiguous genitalia Triangular face Wide nose Muscular dystrophy Small for gestational age Corneal opacity Blepharophimosis Craniosynostosis Cognitive impairment Eversion of lateral third of lower eyelids Flared nostrils Intestinal polyposis Stomach cancer Macrothrombocytopenia Carcinoma Periportal fibrosis Micronodular cirrhosis Skeletal myopathy Recurrent corneal erosions Ketosis Recurrent sinusitis Progressive hearing impairment Sinusitis Decreased liver function Progressive muscle weakness Epistaxis Otitis media Cirrhosis Proximal muscle weakness Abnormal aortic morphology Skeletal muscle atrophy Pain Increased hepatic glycogen content Sinus tachycardia Increased muscle fatiguability Abnormality of lipid metabolism Exercise intolerance Left ventricular hypertrophy Lactic acidosis Motor delay Vaginal neoplasm Premature chromatid separation Epidermoid cyst Intestinal lymphangiectasia Total anomalous pulmonary venous return Acne Chronic obstructive pulmonary disease Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Atelectasis Hypertensive crisis Varicose veins Abnormal eyelid morphology Truncus arteriosus Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Posterior embryotoxon Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Retinal arteriolar tortuosity Abnormal aortic arch morphology Anomalous pulmonary venous return Exotropia Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Overlapping toe Unilateral renal agenesis Proximal placement of thumb Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Abnormal intestine morphology Progressive microcephaly Renal agenesis Multiple suture craniosynostosis Highly arched eyebrow Retinal detachment Smooth philtrum Camptodactyly Reduced visual acuity Cerebellar hypoplasia Absent speech Arnold-Chiari type I malformation Cerebellar atrophy Hypoplasia of the corpus callosum Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Absent eyelashes Sleep disturbance Abnormal eyelash morphology Hyperbilirubinemia Acanthocytosis Intrahepatic cholestasis Myelomeningocele Postaxial foot polydactyly Prominent metopic ridge Pathologic fracture Bilateral talipes equinovarus Portal hypertension Elevated alkaline phosphatase Arnold-Chiari malformation Opacification of the corneal stroma Horseshoe kidney Ambiguous genitalia, male Cholestasis Hypoplasia of penis Postaxial hand polydactyly Cerebral calcification Microcornea Postaxial polydactyly Talipes Toe syndactyly Osteoporosis Myoclonus Syndactyly Long-chain dicarboxylic aciduria Generalized osteoporosis Butterfly vertebrae Decreased plasma total carnitine Broad forehead Hypertrichosis Thick lower lip vermilion Small nail Intellectual disability, profound Overgrowth Macroglossia Delayed eruption of teeth Hirsutism Short distal phalanx of finger Thick eyebrow Congenital cataract Protruding ear Neural tube defect Mandibular prognathia Dilatation Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Elevated serum long-chain fatty acids Antenatal intracerebral hemorrhage Generalized hirsutism Respiratory distress Coma Metabolic acidosis Polymicrogyria Abnormality of the foot Lethargy Dilated cardiomyopathy Neonatal hypotonia Acidosis Agenesis of corpus callosum Arrhythmia Renal insufficiency Respiratory insufficiency Wide intermamillary distance Fatigue Hyperreflexia Subglottic stenosis Pulmonary artery stenosis Epiphyseal dysplasia Hoarse voice Mitral regurgitation Limb undergrowth Round face Small hand Joint stiffness Pneumonia Aciduria Oligohydramnios Intracerebral periventricular calcifications Abnormality of nervous system morphology Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Long toe Renal dysplasia Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Heart block Hyperkalemia Cerebral hemorrhage Hypoplastic toenails Ventricular arrhythmia Hyperammonemia Knee flexion contracture Elbow flexion contracture Nephrolithiasis Hemivertebrae Alopecia of scalp Aspiration Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Abnormality of the nail Cerebral visual impairment Deep philtrum Hyperpigmentation of the skin Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Low posterior hairline Abnormality of the cardiovascular system Progressive visual loss Premature birth Abnormal bleeding Hyperextensible skin Redundant skin Palmoplantar keratoderma Aplasia/Hypoplasia of the eyebrow Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurofibromas Hydroureter Brittle hair Malnutrition Open bite Absent eyebrow Obsessive-compulsive behavior Heart murmur Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Bilateral ptosis Failure to thrive in infancy Abdominal distention High, narrow palate Intellectual disability, progressive Generalized hypertrichosis Vomiting Blindness Edema Dysphagia Dysarthria Delayed speech and language development Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Biliary atresia Kyphosis Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Broad ribs Protruding tongue Aortic root aneurysm Anonychia Metaphyseal widening Growth abnormality Spina bifida occulta Accelerated skeletal maturation Hypertonia Pectus excavatum Retinal dystrophy Leukemia Bruising susceptibility Falls Ichthyosis Dry skin Astigmatism Genu valgum Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Nail dystrophy Pruritus Neurological speech impairment Pectus carinatum Encephalopathy Sparse hair Erythema Respiratory tract infection Irritability Abnormality of the kidney Aggressive behavior EEG abnormality Osteopenia Proptosis Hyperkeratosis Hyperhidrosis Alopecia Ketotic hypoglycemia



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