Obesity, and Hepatosplenomegaly

Diseases related with Obesity and Hepatosplenomegaly

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


Top matches:

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

High match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

High match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

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Other less relevant matches:

High match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

High match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

High match T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY


T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

High match LYSOSOMAL ACID LIPASE DEFICIENCY


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

High match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Medium 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

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

Top 5 symptoms//phenotypes associated to Obesity and Hepatosplenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Obesity and Hepatosplenomegaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea

Common Symptoms - More than 50% cases


Fever

Uncommon Symptoms - Between 30% and 50% cases


Increased body weight Lymphadenopathy Growth delay Anemia Vomiting Abdominal distention Severe short stature Elevated hepatic transaminase Skin rash Hypertelorism Depressed nasal bridge Inflammatory abnormality of the skin Pain Hyperlipidemia Hypercholesterolemia Cirrhosis Muscular hypotonia Ascites Hyperglycemia Nephropathy Abnormal facial shape Glycosuria Hyperuricemia Generalized hypotonia Seizures Motor delay Acute hepatic failure Insulin-resistant diabetes mellitus Hepatic failure Diabetes mellitus Weight loss Hepatic steatosis Jaundice Malabsorption High palate Hepatitis Hypoglycemia Hypothyroidism Acidosis Triangular face Cataract Thrombocytopenia Pneumonia Severe combined immunodeficiency Dry skin Edema

Rare Symptoms - Less than 30% cases


Visual impairment Delayed speech and language development Hearing impairment Intrauterine growth retardation Kyphosis Renal insufficiency Petechiae Recurrent respiratory infections Papule Hyperkeratosis Recurrent cystitis High forehead Facial hirsutism Generalized hirsutism Pruritus Carious teeth Genu valgum Hirsutism Recurrent pneumonia Asthma Abnormality of retinal pigmentation Dehydration Hypertension Irritability Growth hormone deficiency Feeding difficulties Cardiomyopathy Congestive heart failure Depressivity Hypogonadism Retinopathy Delayed puberty Infertility Cyanosis Short toe Pigmentary retinopathy Type II diabetes mellitus Epidermal acanthosis Insulin resistance Acanthosis nigricans Pulmonary fibrosis Pericarditis Myocardial fibrosis Strabismus Chronic diarrhea Hypermetropia Blue sclerae Abnormality of the metaphysis Steatorrhea Ketoacidosis Chronic hepatic failure Gastroesophageal reflux Cough Otitis media Recurrent otitis media Scarring Thickened skin Hypertriglyceridemia Hepatic fibrosis Atherosclerosis Cachexia Portal hypertension Esophageal varix Alopecia Hypotrichosis Leukocytosis Pulmonary arterial hypertension Metabolic acidosis Polyuria Abnormality of the nervous system Kyphoscoliosis Abdominal pain Delayed skeletal maturation Recurrent infections Immunodeficiency Frontal bossing Albuminuria Downslanted palpebral fissures Optic atrophy Constipation Abnormality of the liver Osteoporosis Nystagmus Osteopenia Polydipsia Proteinuria Elevated alkaline phosphatase Hyperlordosis Short nose Microcephaly Pancreatitis Ataxia Autistic behavior Autism Macrocephaly Protuberant abdomen Nevus Pancytopenia Dolichocephaly Decreased antibody level in blood Renal tubular dysfunction Retinal dystrophy Combined immunodeficiency Neoplasm Broad forehead Aplasia/Hypoplasia of the cerebellum Hypoventilation Retinal atrophy Peripheral visual field loss Alopecia of scalp Bronchitis Obsessive-compulsive behavior Hyperventilation Chronic otitis media Poor coordination Oligomenorrhea Nephritis Lipodystrophy Posterior subcapsular cataract Hyperinsulinemia Constriction of peripheral visual field Hyperostosis Impaired vibratory sensation Precocious puberty Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Increased number of teeth Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Subcapsular cataract Truncal obesity Acne Urinary urgency Hydroureter Thoracic scoliosis Emphysema Glucose intolerance Autoimmune thrombocytopenia Diabetes insipidus Glomerulopathy Severe sensorineural hearing impairment Aciduria Nephrocalcinosis Cholelithiasis Ophthalmoplegia Round face Urinary incontinence Vesicoureteral reflux Sleep disturbance Tachycardia Nausea Stage 5 chronic kidney disease Retinal degeneration Attention deficit hyperactivity disorder Pulmonic stenosis Generalized tonic-clonic seizures Decreased testicular size Dilated cardiomyopathy Nyctalopia Sparse hair Pallor Respiratory tract infection Postnatal growth retardation Abnormality of the kidney Myalgia Conductive hearing impairment Deeply set eye Gastrointestinal hemorrhage Progressive visual loss Abnormality of the hand Hypergonadotropic hypogonadism Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Macular degeneration Accelerated skeletal maturation Absence seizures Gingivitis Hypogonadotrophic hypogonadism Horizontal nystagmus Gynecomastia Specific learning disability Sinusitis Hyperpigmentation of the skin Decreased liver function Long philtrum Anorexia Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Cardiomegaly Optic disc pallor Midface retrusion Broad foot Myocarditis Pendular nystagmus Receptive language delay Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Hyperostosis frontalis interna Vitreous haze Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Localized hirsutism Abnormality of the femoral head Squared iliac bones High pitched voice Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Scaphocephaly Slender long bone Nephroblastoma Dysarthria Premature ovarian insufficiency Reduced tendon reflexes Pointed chin Dental crowding Overgrowth Hypodontia Astigmatism Small for gestational age Intellectual disability, moderate Hypoplasia of the corpus callosum Ventriculomegaly Wide nasal bridge Urethral obstruction Renovascular hypertension Tubulointerstitial nephritis Decreased HDL cholesterol concentration Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Ovarian cyst Poor fine motor coordination High-frequency hearing impairment Restrictive cardiomyopathy Chronic obstructive pulmonary disease Chronic fatigue Male hypogonadism Oligospermia Pes planus Tubular atrophy Recurrent bronchitis Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Urinary retention Pyelonephritis Abnormal muscle tone Abnormality of the optic disc Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate First degree atrioventricular block Chills Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Photophobia Dystonia Dyspnea Crusting erythematous dermatitis Hyperuricosuria Impairment of galactose metabolism Hypertonia Gait disturbance Galactose intolerance Brachydactyly Epicanthus Chronic acidosis Spasticity Diffuse telangiectasia Poliosis Upslanted palpebral fissure Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Increased antibody level in blood Abnormal heart morphology Galactosuria Psoriasiform dermatitis Microdontia Neurodevelopmental delay Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Epiphyseal dysplasia Wormian bones Type I diabetes mellitus Coxa valga Abnormality of epiphysis morphology Fasting hypoglycemia Recurrent fractures Brachycephaly Coma Neutropenia Microalbuminuria Thin vermilion border Generalized aminoaciduria Platyspondyly Hip dislocation Joint stiffness Hypouricemia Hypergalactosemia Mild proteinuria Osteomyelitis Systemic lupus erythematosus Hypoplasia of the odontoid process Therapeutic abortion Intellectual disability, severe Leukemia Ptosis Micrognathia Lactic acidosis Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Glutathione synthetase deficiency Malar flattening Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Progressive cerebellar ataxia Large fontanelles Clumsiness Intellectual disability, mild Abnormality of metabolism/homeostasis Reduced bone mineral density Myopathy Abnormality of the fingernails Low-set ears Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Lymphedema Abnormal lung morphology Thin skin Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Cerebellar atrophy Low-set, posteriorly rotated ears Convex nasal ridge Cerebral atrophy Palmoplantar keratoderma Elevated serum creatine phosphokinase Arachnodactyly Posteriorly rotated ears Cerebral cortical atrophy Erythema Arthralgia Proptosis Prominent forehead Hyperphosphaturia Exocrine pancreatic insufficiency Respiratory failure Hashimoto thyroiditis Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Thyroiditis Severe B lymphocytopenia Aplasia/Hypoplasia of the eyebrow Erythroderma Scaling skin Eosinophilia Disproportionate short-limb short stature Shock Recurrent bacterial infections Nephrotic syndrome Lymphoma Sepsis Autoimmunity Desquamation of skin soon after birth Scoliosis Bone-marrow foam cells Underdeveloped nasal alae Polydactyly Hyperhidrosis Myoclonus Rod-cone dystrophy Hyporeflexia Patent ductus arteriosus Visual loss Clinodactyly Encephalopathy Lymphopenia Dilatation Behavioral abnormality Postnatal macrocephaly Abnormality of the dentition Blindness Biparietal narrowing Respiratory distress Short neck Respiratory insufficiency Fatigue Peripheral neuropathy Increased head circumference Cognitive impairment Sensorineural hearing impairment Adrenal calcification Periportal fibrosis Ketonuria Flattened epiphysis Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Narrow iliac wings Intracerebral periventricular calcifications Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Ketosis Barrel-shaped chest Cone-shaped epiphyses of the phalanges of the hand Irregular vertebral endplates Overweight Ivory epiphyses of the phalanges of the hand Irregular tarsal ossification Low-grade fever Developmental regression Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Abnormality of lipid metabolism Malnutrition Aminoaciduria Hypokalemia Leukodystrophy Hypercalciuria Rickets Bowing of the legs Umbilical hernia Ivory epiphyses of the toes Hernia Hypophosphatemia Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Decrease in T cell count Reduced subcutaneous adipose tissue Eczema Osteomalacia Renal tubular acidosis Poor appetite Pericardial constriction



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