Hepatomegaly, and Aggressive behavior

Diseases related with Hepatomegaly and Aggressive behavior

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


Top matches:

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

High match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

High match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

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Other less relevant matches:

High match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

High match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

High match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

High match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

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 MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

High match BETA-MANNOSIDOSIS


Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Aggressive behavior

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dysphagia

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hearing impairment Cerebral atrophy Behavioral abnormality Failure to thrive Dysarthria Tremor Sleep disturbance Peripheral neuropathy Dementia Edema Ventriculomegaly Vomiting Generalized hypotonia Thrombocytopenia Cerebral cortical atrophy Growth delay Abnormal bleeding Depressivity Ascites Frontal bossing Nystagmus Short stature Coarse facial features Hyperactivity Prominent forehead Progressive neurologic deterioration Diarrhea Hepatic steatosis Fatigue Recurrent respiratory infections Muscular hypotonia Macrocephaly Kyphosis Anxiety Neurodevelopmental delay Neurological speech impairment Generalized tonic-clonic seizures Elevated hepatic transaminase Malabsorption Cirrhosis Delayed speech and language development Anemia Dystonia Anteverted nares Recurrent upper respiratory tract infections Joint stiffness Heparan sulfate excretion in urine Drooling Short neck Difficulty walking Neurodegeneration Depressed nasal bridge Low-set ears

Rare Symptoms - Less than 30% cases


Psychosis Involuntary movements Proteinuria Delayed skeletal maturation Abdominal distention Lymphadenopathy Abnormality of eye movement Nausea and vomiting Pruritus Osteopenia Pallor Attention deficit hyperactivity disorder Rigidity Developmental regression Mental deterioration Abnormality of the eye Hypertrophic cardiomyopathy Abnormality of the nervous system Abnormality of the cerebral white matter Weight loss Abdominal pain Intention tremor Joint hypermobility Peripheral axonal neuropathy Abnormality of vision Umbilical hernia Bruising susceptibility Leukopenia Dyspnea Mandibular prognathia Cyanosis Abnormality of the cardiovascular system Proptosis Hepatocellular carcinoma Inguinal hernia Pulmonary arterial hypertension Thickened skin Heart murmur Pericardial effusion Optic atrophy Communicating hydrocephalus Abnormality of the optic disc Personality changes Phonic tics Scoliosis Strabismus Myopia Tics Hydrocephalus Urinary glycosaminoglycan excretion Bone pain Acute hepatic failure Hypertonia Protruding tongue Congestive heart failure Encephalopathy Neoplasm Osteoporosis Decreased body weight Cardiomegaly Abnormality of the sternum Hyperhidrosis Chronic diarrhea Cholestasis Progressive hearing impairment Ovoid thoracolumbar vertebrae Recurrent infections Pancytopenia Coarse hair Thickened ribs Cerebellar atrophy Asymmetric septal hypertrophy Abnormal heart valve morphology Abnormal cardiac septum morphology Abnormality of the liver Dysostosis multiplex Retrognathia Polyhydramnios Hyperkeratosis Gait disturbance Lymphopenia Protuberant abdomen Abnormal facial shape Synophrys Muscle weakness Cataract Cognitive impairment Abnormal myocardium morphology Hirsutism Epicanthus Oculomotor apraxia Feeding difficulties Downslanted palpebral fissures Flexion contracture Clinodactyly of the 5th finger Skeletal muscle atrophy High palate Fine hair Premature birth Cryptorchidism Low posterior hairline Coarctation of aorta Ptosis Narrow forehead Progressive visual loss Growth hormone deficiency Dental malocclusion Webbed neck Micrognathia Myocardial infarction Telecanthus Hemiparesis Aplasia/Hypoplasia of the corpus callosum Horizontal supranuclear gaze palsy Cardiac valve calcification Palmoplantar hyperkeratosis Abnormality of ion homeostasis Optic nerve hypoplasia Abnormality of the acoustic reflex Delayed gross motor development Sleep myoclonus Abnormality of the genitourinary system Sleep apnea Hemangioma Abnormal palate morphology Inflammatory abnormality of the skin Cutis laxa Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Hypertelorism Intestinal malrotation Lymphedema Cafe-au-lait spot Open mouth Hyperpigmentation of the skin High, narrow palate Vesicoureteral reflux Feeding difficulties in infancy Leukemia Pectus carinatum Scarring Sparse hair Hernia Erythema Respiratory tract infection Pectus excavatum Irritability Abnormal heart morphology Constipation Abnormality of cardiovascular system morphology Alopecia Posteriorly rotated ears Autism High forehead Gastroesophageal reflux Macrotia EEG abnormality Hydronephrosis Abnormality of the kidney Low-set, posteriorly rotated ears Nail dystrophy Malar flattening Nevus Abnormality of skin pigmentation Full cheeks Ventricular septal defect Cardiomyopathy Palmoplantar keratoderma Thick vermilion border Retinal dystrophy Atrial septal defect Bulbous nose Falls Long face Ichthyosis Dolichocephaly Dry skin Astigmatism Genu valgum Pulmonic stenosis Hypotrichosis Intellectual disability, severe Blindness Abnormality of the dentition Short nose Hypermetropia Long philtrum Relative macrocephaly Short attention span Poor suck Abnormality of the hairline Clinodactyly Wide nasal bridge Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Hyperkeratosis pilaris Craniosynostosis Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Pneumonia Broad nasal tip Cavernous hemangioma Laryngomalacia Hypoplasia of the abdominal wall musculature Aspartylglucosaminuria Tortuosity of conjunctival vessels Angiokeratoma corporis diffusum Angiokeratoma Thenar muscle atrophy Subcortical cerebral atrophy Demyelinating peripheral neuropathy Proximal amyotrophy Pendular nystagmus Impulsivity Stridor Spastic tetraparesis Stereotypy Narrow palpebral fissure Spastic tetraplegia Epileptic encephalopathy Unsteady gait Lower limb muscle weakness Brachycephaly Babinski sign Abnormality of metabolism/homeostasis Dilatation Scaphocephaly Microretrognathia Finger clinodactyly Recurrent pneumonia Multiple lentigines Abnormality of hair texture Hyperextensible skin Large for gestational age Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Long palpebral fissure Infantile spasms Neurofibromas Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Absent eyebrow Underdeveloped supraorbital ridges Obsessive-compulsive behavior Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Anal stenosis Poor appetite Excessive wrinkled skin Abnormality of the optic nerve Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Delayed CNS myelination Abnormality of the testis Dystrophic fingernails Atopic dermatitis Abnormal hair pattern Thick upper lip vermilion Woolly hair Decreased beta-glucocerebrosidase protein and activity Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Hematological neoplasm Retinoblastoma Erlenmeyer flask deformity of the femurs Abetalipoproteinemia Self-mutilation of tongue and lips due to involuntary movements Square-wave jerks Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Mood changes Kyphoscoliosis Abnormal urinary color Muscle fiber atrophy Dysgraphia Disinhibition Orofacial dyskinesia Acanthocytosis Self-mutilation Abnormality of the thyroid gland Generalized amyotrophy Self-injurious behavior EMG abnormality Abnormality of the skeletal system Postnatal growth retardation Neuronal loss in central nervous system Beaking of vertebral bodies Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Thoracolumbar kyphosis Increased mean corpuscular volume Edema of the lower limbs Tachycardia Abnormality of the skull Insomnia Distal arthrogryposis Increased intracranial pressure Tachypnea Abnormality of the face Mitral regurgitation Recurrent otitis media Mitral valve prolapse Limitation of joint mobility Macroglossia Vasculitis Memory impairment Intervertebral space narrowing Intrauterine growth retardation Hip dysplasia Focal-onset seizure Decreased antibody level in blood Postaxial polydactyly Arthrogryposis multiplex congenita Muscular hypotonia of the trunk Neonatal hypotonia Polydactyly Immunodeficiency Hypoplasia of the corpus callosum Talipes equinovarus Microcephaly Hypohidrosis Dense calvaria Limb ataxia Retinal degeneration Dysmetria Cellular metachromasia Growth abnormality Hypertrichosis Thick lower lip vermilion Thick eyebrow Wide mouth Absent speech Decreased fetal movement Hyperbilirubinemia Chorea Areflexia Gliosis Parkinsonism Generalized muscle weakness Sensory neuropathy Dyskinesia Abnormality of movement Abnormality of the foot Limb muscle weakness Pes cavus Elevated serum creatine phosphokinase Hyporeflexia Myopathy Abnormal intestine morphology Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Dermatan sulfate excretion in urine Focal seizures, afebril Orthopnea Syncope Menorrhagia Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Hypoalbuminemia Increased susceptibility to fractures Osteolysis Increased bone mineral density Hydrops fetalis Epistaxis Progressive cerebellar ataxia Increased antibody level in blood Generalized myoclonic seizures Hematuria Delayed puberty Ophthalmoplegia Corneal opacity Abnormal pyramidal sign Myoclonus Arrhythmia Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy Pulmonary fibrosis Opisthotonus Acute hepatitis Multiple myeloma Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Spontaneous hematomas Abnormal thrombosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Supranuclear gaze palsy Petechiae Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Aseptic necrosis Exertional dyspnea Bulbar palsy Lower limb hyperreflexia Abnormal retinal morphology Interstitial pulmonary abnormality Restrictive ventilatory defect High nonceruloplasmin-bound serum copper Hypersexuality Dysplastic aortic valve Hemolytic anemia Aminoaciduria Spontaneous abortion Muscle stiffness Increased body weight Decreased liver function Nephrolithiasis Clumsiness Osteoarthritis Hepatitis Coma Polyneuropathy Hepatic failure Leukoencephalopathy Nausea Paresthesia Confusion Poor speech Infertility Arthritis Jaundice Arthralgia Spasticity Abnormality of nasopharyngeal adenoids Localized skin lesion Nephrocalcinosis Schizophrenia Poor motor coordination Hand tremor Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Renal tubular dysfunction Increased reactive oxygen species production Hypoparathyroidism Abnormality of the hand Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Hypercalciuria Back pain Increased urinary disaccharide excretion



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