Hepatomegaly, and Corneal dystrophy

Diseases related with Hepatomegaly and Corneal dystrophy

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

Top matches:

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Other less relevant matches:

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Medium match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

FISH-EYE DISEASE Is also known as dyslipoproteinemic corneal dystrophy|alpha-lcat deficiency|lcata deficiency|partial lcat deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Splenomegaly
  • Visual loss
  • Abnormality of the eye


SOURCES: OMIM ORPHANET MENDELIAN

More info about FISH-EYE DISEASE

AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Top 5 symptoms//phenotypes associated to Hepatomegaly and Corneal dystrophy

Symptoms // Phenotype % cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Elevated hepatic transaminase Short stature Splenomegaly Corneal opacity Visual loss Inguinal hernia Dolichocephaly Osteopenia Kyphosis Umbilical hernia Hepatosplenomegaly Abnormality of the skeletal system Cataract Micrognathia Macroglossia Recurrent otitis media Split hand Heart murmur Aortic regurgitation Opacification of the corneal stroma Abnormal heart valve morphology Cardiomegaly Dysostosis multiplex Myelopathy Urinary glycosaminoglycan excretion Generalized hypotonia Growth delay Abnormal facial shape Peripheral neuropathy Retinopathy Depressed nasal bridge Ptosis Cognitive impairment Nephrotic syndrome Seizures

Rare Symptoms - Less than 30% cases

Angina pectoris Posterior embryotoxon Generalized hirsutism Abnormal vertebral morphology Gingival overgrowth Thickened skin Flared metaphysis Coronary artery atherosclerosis Hip dysplasia Retinal degeneration Sensorineural hearing impairment Feeding difficulties Muscle weakness Severe global developmental delay Thickened calvaria Joint stiffness Wide nasal bridge High forehead Recurrent respiratory infections Pneumonia Hernia Constipation Glaucoma Long philtrum Left ventricular hypertrophy Anteverted nares Myocardial infarction Abnormal autonomic nervous system physiology Prominent forehead Hypoplasia of the odontoid process Hypertension Jaundice Conductive hearing impairment Craniosynostosis Areflexia Renal insufficiency Abnormality of the liver Stroke Abnormality of skin pigmentation Intellectual disability, mild Hepatic failure Frontal bossing Triangular face Abnormality of the ribs Hypertelorism Palpebral edema Bullet-shaped phalanges of the hand Thoracolumbar kyphoscoliosis Hypertriglyceridemia Atlantoaxial dislocation Everted lower lip vermilion Abnormality of the eye Mucopolysacchariduria Flared iliac wings Cholestasis Diastasis recti Protuberant abdomen Abnormal form of the vertebral bodies Acidosis Exotropia Large sella turcica Neurodegeneration Progressive neurologic deterioration Widely spaced teeth Flexion contracture Delayed eruption of teeth Macrocephaly Exercise intolerance Elbow flexion contracture Hoarse voice Short neck Carious teeth Hyperhidrosis Hydrocephalus Hypertrichosis Diarrhea Pes cavus Severe short stature Intellectual disability, profound Apnea Pigmentary retinopathy Asthma Sleep apnea Visual impairment Obstructive sleep apnea Respiratory insufficiency Abnormality of the dentition Heparan sulfate excretion in urine Retinal fold Failure to thrive Dermatan sulfate excretion in urine Chronic rhinitis Abnormal nerve conduction velocity Abnormality of the nervous system Pulmonary edema Foam cells Cor pulmonale Anterior open bite Hyperbilirubinemia Seborrheic dermatitis Meckel diverticulum Conical tooth Flat occiput Hypoplastic ilia Upper airway obstruction Abnormality of neuronal migration Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Abnormal mitral valve morphology Difficulty standing Muscular hypotonia of the trunk Abnormality of peripheral nerve conduction Abnormal diaphysis morphology Diaphyseal thickening Biconcave vertebral bodies Delayed ossification of carpal bones Broad femoral neck Large fontanelles Large face Rhinorrhea Sagittal craniosynostosis Endocardial fibroelastosis Heterotopia Sclerosis of skull base Hypoplasia of teeth Cyanosis Abnormal aortic valve morphology Aciduria Polymicrogyria Recurrent ear infections Constrictive median neuropathy Steppage gait Short clavicles Tracheal stenosis Chronic diarrhea Hyperammonemia Progressive hearing impairment Cerebral palsy Coxa vara Abnormality of dental enamel Spastic paraparesis Neonatal hyperbilirubinemia Coxa valga Abnormality of epiphysis morphology Long eyelashes Decreased body weight Recurrent upper respiratory tract infections Encephalocele Mitral regurgitation Interphalangeal joint contracture of finger Lumbar hyperlordosis Abnormality of the cardiovascular system Microdontia Progressive visual loss Abnormality of the skin Limitation of joint mobility Full cheeks Broad nasal tip Increased intracranial pressure Dicarboxylic aciduria Abnormality of the respiratory system Rhinitis Gingivitis Abnormality of the clavicle Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Peripheral visual field loss Flared nostrils Protruding tongue Thoracic scoliosis Spinal canal stenosis Prominent supraorbital ridges Arthropathy Restrictive ventilatory defect Central hypotonia Multiple joint contractures Metatarsus adductus Toe walking Stridor Language impairment Hemiplegia Back pain Delayed closure of the anterior fontanelle Narrow pelvis bone Hernia of the abdominal wall Anterior rib cupping Paralysis Bulbar palsy Myopathy Encephalopathy Cutis laxa Palpitations Elevated serum creatine phosphokinase Hypotension Polyneuropathy Poor speech Proteinuria Amyloidosis Hypothyroidism Increased VLDL cholesterol concentration Increased LDL cholesterol concentration Decreased HDL cholesterol concentration Ophthalmoplegia Precocious atherosclerosis Atherosclerosis Lymphadenopathy Limb muscle weakness Delayed ossification of the hand bones Orthostatic hypotension Abnormality of abdomen morphology Abnormal mandibular ramus morphology Pain Hypohidrosis Anhidrosis Bowel incontinence Decreased number of peripheral myelinated nerve fibers Urinary incontinence Hyposmia Recurrent fractures Hyporeflexia Fever Recurrent corneal erosions Bulbar signs Generalized amyloid deposition Bilateral facial palsy Cardiac amyloidosis Pain insensitivity Lattice corneal dystrophy Acetabular dysplasia Mild proteinuria Painless fractures due to injury Fatigue Facial paralysis Lower limb muscle weakness Abnormality of premolar morphology Prominent sternum Anosmia Hypoplasia of the femoral head Ventricular hypertrophy Abnormality of the pubic bone Amblyopia Abnormality of mucopolysaccharide metabolism Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Calvarial hyperostosis Abnormality of the tonsils Cervical myelopathy External ophthalmoplegia Abnormality of the middle ear ossicles Progressive external ophthalmoplegia Enlargement of the wrists Abnormal hand morphology Hip subluxation Abnormality of the gingiva J-shaped sella turcica Congenital nephrotic syndrome Calcification of falx cerebri C1-C2 subluxation Abnormal mandible coronoid process morphology Deformed humerus Astigmatism Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Proximal tapering of metacarpals Metabolic acidosis Enlarged vertebral pedicles Thick skull base Enlarged tonsils Increased serum lactate Delayed tarsal ossification Abnormality of joint mobility Oligohydramnios Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Sleep disturbance Pulmonary artery stenosis High, narrow palate Severe postnatal growth retardation Abnormality of nervous system morphology Carpal bone hypoplasia Abnormality of the rib cage Lack of skin elasticity Ovoid vertebral bodies Hypoplastic scapulae Recurrent bronchitis Flat acetabular roof Corneal erosion Radial bowing Megalocornea Broad alveolar ridges Vertebral fusion Pathologic fracture Pericardial effusion Abnormality of the thorax Metaphyseal widening Short long bone Congenital hip dislocation Recurrent pneumonia Sparse and thin eyebrow Thin skin Cavernous hemangioma Increased serum beta-hexosaminidase Wide intermamillary distance Ventricular septal defect Carcinoma Deeply set eye Macrotia Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Delayed skeletal maturation Clinodactyly Dilatation Atrial septal defect Downslanted palpebral fissures Increased serum iduronate sulfatase activity Intrauterine growth retardation Myopia Cryptorchidism Strabismus Neoplasm Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Progressive alveolar ridge hypertropy Deficiency of N-acetylglucosamine-1-phosphotransferase Narrow forehead Brain atrophy Protruding ear Natal tooth Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Rod-cone dystrophy Steatocystoma multiplex Abnormality of nail color Skin plaque Epidermoid cyst Thick nail Oral leukoplakia Hamartoma Anonychia Tetraplegia Laryngomalacia Abnormality of the fingernails Abnormality of the nail Abnormality of the hair Abnormal blistering of the skin Palmoplantar keratoderma Ichthyosis Nail dystrophy Hyperkeratosis Alopecia Postural instability Spastic tetraplegia Short palm Retinoschisis Hip dislocation Respiratory tract infection Joint laxity Hypertrophic cardiomyopathy Neonatal hypotonia Weight loss Blindness Talipes equinovarus Epicanthus Ataxia Tracheobronchomalacia Thick lower lip vermilion Cervical cord compression Intestinal pseudo-obstruction Papilledema Scaphocephaly Mild short stature Incoordination Spastic tetraparesis Intellectual disability, progressive Abnormality of retinal pigmentation Tetraparesis Abnormality of the kidney Scarring Thick vermilion border Multiple small medullary renal cysts Skeletal muscle atrophy Delayed speech and language development Muscular hypotonia Scoliosis Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Renal artery stenosis Vomiting Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Edema Behavioral abnormality Abnormal pupil morphology Abnormal pyramidal sign Inability to walk Wide nose Hirsutism Thick eyebrow Dry skin Genu valgum Abnormality of eye movement Synophrys Pectus carinatum Nyctalopia Camptodactyly of finger Headache Wide mouth Pallor Mental deterioration Skeletal dysplasia Kyphoscoliosis Dyspnea Proptosis Abdominal pain Arrhythmia Depressivity Peripheral pulmonary artery stenosis Thyroid carcinoma Short philtrum Microcornea Renal dysplasia Renal hypoplasia Coarctation of aorta Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Prominent nose Round face Vesicoureteral reflux Hypodontia Hypopigmentation of the skin Pointed chin Short distal phalanx of finger Flat face Cirrhosis Stage 5 chronic kidney disease Anal atresia Delayed puberty Malabsorption Pulmonic stenosis Pruritus Broad forehead Lymphedema Hemivertebrae Cholestatic liver disease Telangiectasia of the skin Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Abnormality of the ureter Renal tubular acidosis Keratoconus Prolonged neonatal jaundice Multicystic kidney dysplasia Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Glomerulosclerosis Portal hypertension Renal hypoplasia/aplasia Hypercholesterolemia Spina bifida occulta Finger clinodactyly Abnormality of the nasal bridge


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