Hepatomegaly, and Congenital cataract

Diseases related with Hepatomegaly and Congenital cataract

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


Top matches:

High match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

High match LEBER CONGENITAL AMAUROSIS


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

High match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

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High match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

High match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

High match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

High match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

High match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

High match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

High match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Congenital cataract

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

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

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe Strabismus Nystagmus Abnormal facial shape Cardiomyopathy Scoliosis Ataxia Coarse facial features Mandibular prognathia Tremor Splenomegaly Arrhythmia Sensorineural hearing impairment Failure to thrive Growth delay Hypertelorism Hyperreflexia Cerebral cortical atrophy Hypertension Cerebral visual impairment Renal cyst Dilatation Tetraplegia Wide nasal bridge Thick vermilion border Macrocephaly High palate Anteverted nares Hypertrophic cardiomyopathy Abnormality of the cerebral white matter Polydactyly Optic atrophy Cryptorchidism Jaundice Microcephaly Abnormality of the skeletal system Short stature Blindness Elevated hepatic transaminase Muscle weakness Cerebellar hypoplasia Abnormality of the liver Visual impairment

Rare Symptoms - Less than 30% cases


Ventriculomegaly Cerebral atrophy Absent speech Microphthalmia Fever Elevated serum creatine phosphokinase Myopathy Low-set ears Edema Carious teeth Difficulty walking Abnormality of movement Micrognathia Progressive proximal muscle weakness Restrictive ventilatory defect Proximal muscle weakness Impulsivity Myalgia Scapular winging Hyperlordosis Muscle cramps Generalized tonic-clonic seizures Hepatic steatosis Waddling gait Intellectual disability, profound Micropenis Abnormality of the genital system Hernia Patent ductus arteriosus Dyspnea Polyhydramnios Umbilical hernia Wide mouth Renal dysplasia Short distal phalanx of finger Downslanted palpebral fissures Macroglossia Overgrowth Small nail Accelerated skeletal maturation Hypoglycemia Large for gestational age Depressed nasal bridge Congestive heart failure Cardiac arrest Hepatosplenomegaly Epicanthus Gliosis Gait disturbance Tetraparesis Pachygyria Decreased liver function Opacification of the corneal stroma Spastic tetraparesis Behavioral abnormality Dental malocclusion Osteoporosis Acidosis High forehead Postnatal growth retardation Respiratory tract infection Nephrolithiasis Leukodystrophy Abnormality of the pinna Fatigue Renal insufficiency Intrauterine growth retardation Postnatal microcephaly Myopia Abnormality of the kidney Constipation Pigmentary retinopathy Generalized-onset seizure Hypermetropia Retinopathy Cardiomegaly Clonus Cerebral calcification Rod-cone dystrophy Cerebellar vermis hypoplasia Pain Dysarthria Feeding difficulties Motor delay Delayed speech and language development Headache Fatigable weakness Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Ketosis Myoglobinuria Drowsiness Mesiodens Acute kidney injury Exercise-induced myalgia Rhabdomyolysis Glycosuria Difficulty climbing stairs Ventricular fibrillation Stridor Short 2nd finger Hemiplegia Back pain Submucous cleft lip Hypoketotic hypoglycemia Proximal tubulopathy Medulloblastoma Personality disorder Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Embryonal neoplasm Hypoglycemic coma Progressive spastic quadriplegia Slurred speech Glutaric aciduria Broad toe Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Penoscrotal hypospadias Polycystic kidney dysplasia Mutism Easy fatigability Lethargy Coma Cyst of the ductus choledochus Metabolic acidosis Vomiting Pulmonary hypoplasia Lactic acidosis Nausea Joint hyperflexibility Limb muscle weakness Nausea and vomiting Six lumbar vertebrae Respiratory distress Dilated cardiomyopathy Telecanthus Diarrhea Arthralgia Cleft lower lip Weight loss Gait ataxia Respiratory failure Areflexia Encephalopathy Generalized muscle weakness Duplication of renal pelvis Poor head control Narrow sacroiliac notch Depressivity Ragged-red muscle fibers Hyperammonemia Pancreatitis Exercise intolerance Type I diabetes mellitus Short sacroiliac notch Increased muscle lipid content Posterior helix pit 2-3 finger syndactyly Wide anterior fontanel Increased serum lactate Broad secondary alveolar ridge Dysphagia Anorexia Nephroblastomatosis Left ventricular hypertrophy Birth length greater than 97th percentile Heterotopia Penoscrotal transposition Respiratory insufficiency Aciduria Glutaric acidemia Meckel diverticulum Hepatoblastoma Toe syndactyly Bilateral talipes equinovarus High, narrow palate Postaxial polydactyly Wide nose Short palm Thin vermilion border Cleft upper lip Hydroureter Facial asymmetry Pulmonic stenosis Finger syndactyly Short foot Neurological speech impairment Camptodactyly of finger Irritability Low-set, posteriorly rotated ears Cleft lip Hydronephrosis Hypothyroidism Prominent eyelashes Bundle branch block Supernumerary nipple Proptosis Retinal detachment Broad nasal tip Vertebral segmentation defect Congenital diaphragmatic hernia Preauricular skin tag Tall stature Broad thumb Clumsiness Omphalocele Abnormality of the ribs Short toe Hoarse voice Congenital hip dislocation Multicystic kidney dysplasia Narrow palpebral fissure Hypoplasia of penis Bifid uvula Relative macrocephaly Abnormality of the hand Postaxial hand polydactyly Abnormality of the voice Dandy-Walker malformation Nail dysplasia Nephroblastoma Cupped ear Webbed neck Preauricular pit Intestinal malrotation Prolonged QT interval Vertebral fusion Ketotic hypoglycemia Pancreatic islet-cell hyperplasia Abnormality of the helix Ventricular septal defect Flared iliac wings Cleft palate Aplasia/Hypoplasia of the abdominal wall musculature Ureteral duplication Ankyloglossia Increased IgE level Neoplasm Abnormality of blood glucose concentration Chordee Electron transfer flavoprotein-ubiquinone oxidoreductase defect Talipes equinovarus Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Cervical ribs Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Furrowed tongue Short neck Abnormality of digit Hypospadias Upslanted palpebral fissure Broad palm Agenesis of corpus callosum Transposition of the great arteries Neuroblastoma Clinodactyly of the 5th finger Abnormal lung lobation Enlarged kidney Inguinal hernia Abnormal heart morphology Pectus excavatum Broad foot Hydrocephalus Obesity Abnormality of cardiovascular system morphology Syndactyly Low hanging columella Polysplenia Diastasis recti Duodenal atresia Short nose Abnormality of the dentition Renal neoplasm Atrial septal defect Short distal phalanx of toe Decreased lacrimation Aortic arch aneurysm Poor speech CNS hypomyelination Infantile muscular hypotonia Truncal ataxia Lower limb spasticity Apraxia Hip dysplasia Focal-onset seizure Chorea Inability to walk Unsteady gait Muscular dystrophy Gowers sign Attention deficit hyperactivity disorder EEG abnormality Hyperkeratosis Brachycephaly Hyporeflexia Dystonia Cerebellar atrophy Increased urinary O-linked sialopeptides Oligosacchariduria Long-tract signs Angiokeratoma corporis diffusum Limb-girdle muscular dystrophy Athetosis Angiokeratoma Hypertonia Purpura Microretrognathia Status epilepticus Sloping forehead Neuronal loss in central nervous system Polymicrogyria Corneal opacity Skin rash Muscular hypotonia of the trunk Thrombocytopenia Long philtrum Anemia Adrenal insufficiency Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Achalasia Esophagitis Progressive psychomotor deterioration Vascular skin abnormality Petechiae Encephalocele Hyperactive deep tendon reflexes Keratoconus High hypermetropia Abnormality of neuronal migration Hemiplegia/hemiparesis Abnormal electroretinogram Cone/cone-rod dystrophy Low anterior hairline Abnormality of retinal pigmentation Exotropia Narrow forehead Severe vision loss Retinal dystrophy Retinal degeneration Talipes Short philtrum Abnormality of the eye Photophobia Thin upper lip vermilion Visual loss Cystic renal dysplasia Ectopic kidney Progressive neurologic deterioration Congenital blindness Pendular nystagmus Diffuse white matter abnormalities Osteopenia Psychomotor deterioration Vegetative state Generalized amyotrophy Recurrent pneumonia Lymphedema Generalized myoclonic seizures Vertigo Severe global developmental delay Developmental regression Apnea Skeletal dysplasia Gastroesophageal reflux Decreased light- and dark-adapted electroretinogram amplitude Autism Myoclonus Peripheral neuropathy Cognitive impairment Hyperthreoninemia Hyperthreoninuria Eye poking Fundus atrophy Talipes equinovalgus Aplasia/Hypoplasia of the cerebellar vermis Abnormality of the optic disc Lissencephaly Increased CSF protein Everted upper lip vermilion Subcortical white matter calcifications Thick eyebrow Bulbous nose Joint hypermobility Synophrys Broad forehead Protruding ear Macrotia Posteriorly rotated ears Brachydactyly Cerebellar calcifications Patchy demyelination of subcortical white matter Delayed eruption of teeth Abnormal peripheral myelination Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Slender nose Severe photosensitivity Increased cellular sensitivity to UV light Normal pressure hydrocephalus Loss of facial adipose tissue Delayed eruption of primary teeth Abnormal auditory evoked potentials Hirsutism Bilateral sensorineural hearing impairment Dry hair Aortic root aneurysm Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Pericardial effusion Thick lower lip vermilion Anonychia Metaphyseal widening Growth abnormality Hemangioma Spina bifida occulta Intellectual disability, progressive Hemivertebrae Generalized hirsutism Gingival overgrowth Thickened skin Hypertrichosis Hypoplasia of teeth Hypoplastic pelvis Congenital microcephaly Abnormality of epiphysis morphology Progressive spinal muscular atrophy Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Spinal muscular atrophy Hepatic fibrosis Progressive muscle weakness Rhizomelia Large fontanelles Elevated levels of phytanic acid Abnormality of the face Convex nasal ridge Esotropia Cirrhosis Ichthyosis Dolichocephaly Nyctalopia Facial palsy Neonatal hypotonia Midface retrusion Skeletal muscle atrophy Very long chain fatty acid accumulation Flexion contracture Hypoplastic iliac wing Abnormality of the hair Progeroid facial appearance Atypical scarring of skin Severe failure to thrive Hypoplasia of the iris Abnormality of visual evoked potentials Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Decreased nerve conduction velocity Dermal atrophy Cutaneous photosensitivity Kyphosis Limitation of joint mobility Microcornea Polyneuropathy Abnormality of skin pigmentation Dry skin Small for gestational age Prominent nasal bridge Sparse hair Proteinuria Deeply set eye Severe short stature Two carpal ossification centers present at birth



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