Hepatomegaly, and Photophobia

Diseases related with Hepatomegaly and Photophobia

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

Top matches:

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Other less relevant matches:

Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

High match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Photophobia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pigmentary retinopathy Peripheral neuropathy Intellectual disability Tremor Peripheral axonal neuropathy Growth delay Skeletal muscle atrophy Renal insufficiency Fever Hypopigmentation of the skin Congestive heart failure Anorexia Retinopathy Blindness Ataxia Cataract Vomiting Hypogonadism Hepatic failure Frontal bossing Generalized hypotonia Pain Epicanthus Anemia Hearing impairment Hypothyroidism Visual loss Headache Myopathy Chronic kidney disease Muscular hypotonia Microcephaly Thrombocytopenia Mental deterioration Jaundice Confusion Erythema Weight loss Rod-cone dystrophy Abnormality of the liver Abnormality of retinal pigmentation Coma Polyneuropathy Retinal dystrophy Failure to thrive Tubulointerstitial nephritis Short stature Nausea

Rare Symptoms - Less than 30% cases

Hypertrophic cardiomyopathy Nyctalopia Peripheral demyelination Multiple lipomas Chorioretinal atrophy Hypocalcemia Decreased liver function Brain atrophy Dilated cardiomyopathy Hypertension Abdominal pain Malabsorption Fair hair Interstitial pneumonitis Diarrhea Alopecia Cerebral cortical atrophy Lethargy Skin ulcer Elevated serum creatine phosphokinase Paronychia Feeding difficulties Preeclampsia Myopia Cardiomyopathy Heart block Rhabdomyolysis Dysphagia Reduced consciousness/confusion Hyperpigmentation of the skin Cerebellar atrophy Areflexia Hyporeflexia Developmental regression Paresthesia Lymphadenopathy Pancytopenia Leukopenia Gait disturbance Decreased nerve conduction velocity Dyspnea Osteoporosis Protruding ear Nephropathy Tubulointerstitial abnormality Fatigue Arrhythmia Edema Renal Fanconi syndrome Decreased plasma carnitine Diabetes mellitus Abnormality of acid-base homeostasis Muscle weakness Cognitive impairment Hyperthyroidism Hypercalciuria Respiratory distress Cerebral atrophy Delayed skeletal maturation Proteinuria Hypopigmentation of hair Delayed puberty Stage 5 chronic kidney disease Memory impairment Pulmonary fibrosis Cerebral calcification Nephrolithiasis Hyponatremia Sudden cardiac death Periodontitis Abnormality of the dentition Albinism Coarse facial features Dysarthria Status epilepticus Hypertelorism Immunodeficiency Sensorineural hearing impairment Abnormality of the skeletal system Wide nasal bridge Motor delay Strabismus Thin upper lip vermilion Recurrent infections Abnormality of the eye Sensory neuropathy Congenital cataract Exotropia High hypermetropia Abnormality of neuronal migration Hemiplegia/hemiparesis Abnormal electroretinogram Sensory impairment Type II diabetes mellitus Hemiparesis Migraine Hepatosplenomegaly Neutropenia Carious teeth Recurrent respiratory infections Irritability Gait ataxia Iris hypopigmentation Encephalopathy Reduced visual acuity Sensorimotor neuropathy Hip dysplasia Optic atrophy Depressivity Abnormal cerebellum morphology Muscle cramps Respiratory insufficiency Short neck Ventriculomegaly Hyperreflexia Ptosis Dysmetria Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Hypertonia Maculopapular exanthema Abnormality of the nasal mucosa Generalized myoclonic seizures Increased serum lactate Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Enlarged lacrimal glands Constipation Dystonia Apnea Nausea and vomiting Ophthalmoplegia Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Pruritus Ichthyosis Neurological speech impairment Stroke Attention deficit hyperactivity disorder Abnormality of the pinna Vertigo Feeding difficulties in infancy Anxiety Kyphosis Myalgia Lactic acidosis Non-caseating epithelioid cell granulomatosis Polymicrogyria Gastroesophageal reflux Acidosis Autism Hirsutism Myoclonus Postural instability Dementia Cerebellar hypoplasia Anal atresia EEG abnormality Vitreous floaters Abnormality of T cell physiology Inflammation of the large intestine Uveitis Optic neuropathy Hemoptysis Keratoconjunctivitis sicca Hyperuricemia Abnormality of the musculature Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Increased antibody level in blood Blurred vision Emphysema Diabetes insipidus Epiphora Pleural effusion Spasticity Portal hypertension Hypercalcemia Eosinophilia Ventricular tachycardia Osteolysis Nephrocalcinosis Bronchiectasis Subcutaneous nodule Abnormal lung morphology Palpitations Syncope Chest pain Hemolytic anemia Papule Joint swelling Increased CSF protein Enlargement of parotid gland Generalized lymphadenopathy Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Amenorrhea Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Chorioretinitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Erythema nodosum Hypothermia Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Specific learning disability Left ventricular hypertrophy Abnormality of the cardiovascular system Visual hallucinations Ileus 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 Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Renal tubular dysfunction Abnormality of the renal tubule Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Hemianopia Episodic vomiting Drowsiness Abnormal macular morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Spotty hypopigmentation Hemeralopia Motor polyneuropathy Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes 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 Atopic dermatitis Distal arthrogryposis Generalized-onset seizure Truncal ataxia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Cardiac arrest Goiter Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Scarring Decreased body weight Involuntary movements Hypertrichosis Atrial fibrillation Ventricular hypertrophy Psychosis Pulmonary arterial hypertension Nephrotic syndrome Bilateral sensorineural hearing impairment Schizophrenia Hyperkinesis Pulmonary embolism Adrenal insufficiency Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Overlapping toe Easy fatigability Focal segmental glomerulosclerosis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Cachexia Atrioventricular block Growth abnormality Cough Abnormality of the abdominal wall Facial palsy Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Generalized muscle weakness Abnormality of skin pigmentation Mandibular prognathia Genu valgum Abnormality of the kidney Short philtrum Hypermetropia Talipes Retinal degeneration Narrow forehead Cerebellar vermis hypoplasia Encephalocele 3-hydroxydicarboxylic aciduria Posterior staphyloma Intellectual disability, severe Reye syndrome-like episodes Acute hepatic steatosis Elevated plasma acylcarnitine levels Gastrointestinal inflammation Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Low anterior hairline Cone/cone-rod dystrophy Cholestatic liver disease Hypoketotic hypoglycemia Recurrent hypoglycemia Loss of consciousness Dilatation Dehydration Keratoconus Male hypogonadism Atrophy/Degeneration affecting the brainstem Neoplasm Elevated intracellular cystine Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Fat malabsorption Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Heat intolerance Progressive neurologic deterioration Flushing Microscopic hematuria Exocrine pancreatic insufficiency Biliary tract abnormality Male infertility Glycosuria Polyuria Oral-pharyngeal dysphagia Rickets Metaphyseal widening Polydipsia Failure to thrive in infancy Hypohidrosis Tachypnea Hyperactive deep tendon reflexes Atrial septal defect Dry skin Blepharitis Alopecia of scalp Pustule Poor appetite Steatorrhea Emotional lability Psoriasiform dermatitis Conjunctivitis Pneumonia Chronic diarrhea Inflammatory abnormality of the skin Abnormal blistering of the skin Decreased testicular size Hypotrichosis Corneal erosion Posteriorly rotated ears Nail dystrophy Upslanted palpebral fissure Retrognathia Conductive hearing impairment Respiratory tract infection Aberrant melanosome maturation Intermittent thrombocytopenia Congenital neutropenia Granulocytopenia Smooth philtrum Acetabular dysplasia Ocular albinism Abnormal eyebrow morphology Furrowed tongue Congenital blindness Abnormality of metabolism/homeostasis Severe vision loss Pendular nystagmus Metabolic acidosis Hepatic steatosis Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Elevated hepatic transaminase Hypoglycemia Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Ridged nail Abnormal facial shape Macrocephaly Low-set ears Intellectual disability, mild Long philtrum Increased serum zinc Low alkaline phosphatase Recurrent candida infections Decreased taste sensation Ridged fingernail Glossitis Decreased testosterone in males Impaired T cell function Cheilitis Agitation Apathy Arthritis Hypotelorism Bicuspid aortic valve Widely spaced teeth Cutis laxa Abnormality of the fingernails Abnormality of dental enamel Short ribs Short toe Hepatic fibrosis Rhizomelia Hypoplasia of dental enamel Omphalocele Abnormality of the metaphysis Fine hair Limb undergrowth Radial deviation of finger Microdontia Ectodermal dysplasia Full cheeks Hypodontia Single transverse palmar crease Everted lower lip vermilion High, narrow palate Short distal phalanx of finger Joint hyperflexibility Narrow chest Dolichocephaly Finger syndactyly Sparse hair Redundant skin Cupped ear Postnatal growth retardation Abnormal diaphysis morphology Proximal muscle weakness Glaucoma Unsteady gait Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Renal magnesium wasting Broad toe Cirrhosis Short nail Thin nail Flattened epiphysis Recurrent bacterial infections Hepatic cysts Abnormality of dental morphology Sagittal craniosynostosis Slow-growing hair Abnormal toenail morphology Elevated serum creatinine Anodontia Distal sensory impairment Taurodontia Scaphocephaly Protuberant abdomen Fibular hypoplasia Short humerus Prominent occiput Short thorax Thoracic hypoplasia Craniosynostosis Joint laxity Spastic paraparesis Lymphoma Melanocytic nevus Abnormality of vision Cranial nerve paralysis Intention tremor Foot dorsiflexor weakness Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Cholestasis Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Parkinsonism Sensory axonal neuropathy Abnormal bleeding Neurodegeneration Bruising susceptibility Falls Hypergonadotropic hypogonadism Paraplegia Abnormality of movement Spastic paraplegia Leukemia Bilateral single transverse palmar creases Rigidity Difficulty walking Paraparesis Cerebral hemorrhage Resting tremor Telecanthus Giant melanosomes in melanocytes High forehead Respiratory failure Clinodactyly of the 5th finger Clinodactyly Pectus excavatum Hernia Abnormality of cardiovascular system morphology Anteverted nares Brachydactyly High palate Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Recurrent cutaneous abscess formation Generalized hyperpigmentation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Gingivitis Gingival bleeding Prominent ear helix


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