Hepatomegaly, and Atopic dermatitis

Diseases related with Hepatomegaly and Atopic dermatitis

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

Top matches:

Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Other less relevant matches:

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

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever
  • Proteinuria


SOURCES: OMIM MESH MENDELIAN

More info about HEME OXYGENASE 1 DEFICIENCY; HMOX1D

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i|neutrophil cytosol factor 1, deficiency of|soc2, deficiency of|p47-phox, deficiency of|soluble oxidase component ii, deficiency of|ncf1, deficiency of|granulomatous disease, chronic, due to ncf1 defic

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2 Is also known as ncf2, deficiency of|granulomatous disease, chronic, due to ncf2 deficiency|cgd, autosomal recessive cytochrome b-positive, type ii|neutrophil cytosol factor 2, deficiency of|p67-phox, deficiency of

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

Top 5 symptoms//phenotypes associated to Hepatomegaly and Atopic dermatitis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory tract infection Growth delay Thrombocytopenia Proteinuria Skin rash Intellectual disability Short stature Cerebral atrophy Feeding difficulties Seizures Global developmental delay Eczematoid dermatitis Abnormality of the dentition Type I diabetes mellitus Inflammatory abnormality of the skin Diarrhea Recurrent infections Alopecia Recurrent respiratory infections Diabetes mellitus Hypothyroidism Hemolytic anemia Failure to thrive

Rare Symptoms - Less than 30% cases

Dysarthria Blindness Muscular hypotonia Congestive heart failure Vomiting Pain Ptosis Arthralgia Nystagmus Fever Cardiomyopathy Ataxia Short neck Ventriculomegaly Decreased antibody level in blood Dysphagia Hypertelorism Optic atrophy Cataract Constipation Hypertonia Neurological speech impairment Leukemia Bilateral ptosis Purpura Cerebral visual impairment Decreased body weight Hemiparesis Abnormality of the cardiovascular system Peripheral axonal neuropathy Ichthyosis Pruritus Erythema Kyphosis Feeding difficulties in infancy Hypertrophic cardiomyopathy EEG abnormality Gastroesophageal reflux Autism Cerebral cortical atrophy Delayed skeletal maturation Encephalopathy Depressivity Renal insufficiency Hearing impairment Delayed puberty Basal ganglia calcification Decreased activity of NADPH oxidase Cellulitis Granulomatosis Microcephaly Generalized hypotonia Recurrent bacterial skin infections Rectal abscess Liver abscess Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Recurrent Aspergillus infections Recurrent Klebsiella infections Recurrent E. coli infections Osteomyelitis Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent Burkholderia cepacia infections Recurrent Serratia marcescens infections Thyroiditis Negative nitroblue tetrazolium reduction test Autoimmune hemolytic anemia Increased antibody level in blood Recurrent bacterial infections Abnormal lung morphology Eczema Hepatosplenomegaly Respiratory insufficiency Dystonia Abnormal intestine morphology Developmental regression Irritability Recurrent pneumonia Abnormality of the cerebral white matter Nephrotic syndrome Retinal dystrophy Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Abdominal distention Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Falls Bruising susceptibility Bulbous nose Premature birth Joint hypermobility Long face Abnormality of skin pigmentation Dry skin Astigmatism Genu valgum Pulmonic stenosis Hypotrichosis Hypermetropia Dolichocephaly Intestinal malrotation Growth hormone deficiency Dental malocclusion Hyperpigmentation of the skin Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Lymphedema Webbed neck Cafe-au-lait spot Thickened skin Scleroderma Open mouth Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Progressive visual loss Celiac disease Nail dystrophy Scarring Pectus carinatum Epicanthus Behavioral abnormality Intellectual disability, severe Edema Atrial septal defect Hydrocephalus Anteverted nares Ventricular septal defect Frontal bossing Downslanted palpebral fissures Macrocephaly Myopia Depressed nasal bridge Long philtrum Delayed speech and language development High palate Low-set ears Cryptorchidism Strabismus Micrognathia Neoplasm Scoliosis Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Short nose Malar flattening Abnormal cardiac septum morphology Macrotia Palmoplantar hyperkeratosis Sparse hair Abnormality of the kidney Abnormality of the eye Low-set, posteriorly rotated ears Telecanthus Aggressive behavior Hydronephrosis Umbilical hernia Coarse facial features Osteopenia Interstitial pulmonary abnormality Abnormality of cardiovascular system morphology High forehead Polyhydramnios Proptosis Hyperkeratosis Hyperhidrosis Prominent forehead Posteriorly rotated ears Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Pectus excavatum Hernia Optic nerve hypoplasia Relative macrocephaly Autoimmune thrombocytopenia Abnormal aortic valve morphology Sparse or absent eyelashes Autoimmunity Multiple lentigines Cavernous hemangioma Neutropenia Abnormality of hair texture Excessive wrinkled skin Combined immunodeficiency Abnormality of the pulmonary artery Hyperextensibility of the finger joints Asplenia Subvalvular aortic stenosis Arthritis Hematuria Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Glomerulonephritis Deep palmar crease Lymphopenia Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Increased nuchal translucency Endocarditis Dystrophic fingernails Hyperkeratosis pilaris Recurrent skin infections Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Abnormal location of ears Recurrent candida infections Panhypogammaglobulinemia Abnormality of the hairline Tongue thrusting Frontal balding Functional abnormality of the gastrointestinal tract Laryngeal cleft Multiple plantar creases Oral aversion Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Severe combined immunodeficiency Abnormality of the optic nerve Abnormal hair pattern Abnormality of vision Melanocytic nevus Inflammation of the large intestine Hydroureter Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Colitis Cubitus valgus Recurrent ear infections Neurodevelopmental delay Ectropion Pleural effusion Scaling skin Sparse eyebrow Failure to thrive in infancy Perianal abscess Brittle hair Redundant skin Deep philtrum Hyperextensible skin Poor suck Cutaneous T-cell lymphoma Aplasia/Hypoplasia of the eyebrow Neurofibromas Thick upper lip vermilion Arnold-Chiari type I malformation Abnormality of acid-base homeostasis Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Interstitial pneumonitis Premature skin wrinkling Primary hypothyroidism Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Abnormal eyelash morphology Infantile spasms Alopecia of scalp Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Episodic quadriplegia Cerebral ischemia Homonymous hemianopia Nyctalopia Anal atresia Malabsorption Nausea and vomiting Carious teeth Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Stroke Attention deficit hyperactivity disorder Abnormality of the liver Paresthesia Protruding ear Abnormality of the pinna Mental deterioration Apnea Anxiety Myalgia Photophobia Jaundice Acidosis Dyspnea Weight loss Gait ataxia Abdominal pain Dysmetria Confusion Osteoporosis Increased serum lactate Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Migraine Vertigo Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Hirsutism Polymicrogyria Nausea Lactic acidosis Hypogonadism Myoclonus Hypertrichosis Granulocytopenia Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Brain atrophy Tetraplegia Paraplegia Abnormality of eye movement Spastic paraplegia Muscular hypotonia of the trunk Absent speech Intrauterine growth retardation Spasticity Chronic hemolytic anemia Recurrent fungal infections Progressive microcephaly Bronchiolitis Decrease in T cell count Immune dysregulation Villous atrophy Recurrent viral infections Chronic lung disease Esophagitis Antinuclear antibody positivity Gingivitis Iron deficiency anemia IgA deficiency Psoriasiform dermatitis Chronic diarrhea Lower limb spasticity Vasculitis Dementia Tremor Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Arrhythmia Visual loss Headache Cerebellar atrophy Myopathy Respiratory distress Fatigue Gait disturbance Skeletal muscle atrophy Spastic tetraparesis Hyperreflexia Peripheral neuropathy Hypertension Motor delay Visual impairment Cognitive impairment Muscle weakness Sensorineural hearing impairment Chilblains Serositis Progressive spastic paraplegia Pericardial effusion Toe walking Atrial fibrillation Involuntary movements Abnormal cochlea morphology Tubulointerstitial nephritis Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Hemianopia Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Ileus Abnormality of the renal tubule Hashimoto thyroiditis Psychotic episodes Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Episodic vomiting Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of visual evoked potentials Drowsiness Left ventricular hypertrophy Reduced tendon reflexes Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers External ophthalmoplegia Hemiplegia Pancreatitis Macular degeneration Exercise intolerance Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Hypercalciuria Aortic aneurysm Distal arthrogryposis Vestibular dysfunction Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Aphasia Abnormality of mitochondrial metabolism Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Lung abscess


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