Hepatomegaly, and Blindness

Diseases related with Hepatomegaly and Blindness

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

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Other less relevant matches:

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

High match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Top 5 symptoms//phenotypes associated to Hepatomegaly and Blindness

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Retinal degeneration Generalized hypotonia Hepatosplenomegaly Hypertonia Splenomegaly Sensorineural hearing impairment Edema Coarse facial features Growth delay Microcephaly Hepatic failure Progressive neurologic deterioration Visual impairment Hypertelorism Nystagmus Intellectual disability, severe Visual loss Optic atrophy Respiratory insufficiency Elevated hepatic transaminase Cerebral cortical atrophy Feeding difficulties Pigmentary retinopathy

Rare Symptoms - Less than 30% cases

Irritability Brachydactyly Cardiomyopathy Vomiting Abnormal electroretinogram Dystonia Hypertrophic cardiomyopathy Decreased light- and dark-adapted electroretinogram amplitude Myoclonus Babinski sign Macrocephaly Hyperreflexia Retinopathy Frontal bossing Polydactyly EEG abnormality Cerebellar vermis hypoplasia Generalized-onset seizure Flexion contracture Retinal dystrophy Developmental regression Mandibular prognathia Macroglossia Fatigue Abnormality of the skeletal system Abnormal facial shape Tremor Ataxia Status epilepticus Hypoplasia of the corpus callosum Rod-cone dystrophy Renal insufficiency Intrauterine growth retardation Cerebral visual impairment Anemia Spasticity Muscle weakness Hypermelanotic macule Orthostatic hypotension Hyporeflexia of upper limbs Pallor Generalized tonic-clonic seizures Abnormality of skin pigmentation Inability to walk Multifocal epileptiform discharges Developmental stagnation Megalencephaly Episodic abdominal pain Increased serum lactate Impotence Lower limb hyperreflexia Emotional lability Hemiplegia Abnormal retinal morphology Supranuclear gaze palsy Hypohidrosis Tetraparesis Choreoathetosis Gingival overgrowth Loss of consciousness Global brain atrophy Fasciculations Progressive psychomotor deterioration Feeding difficulties in infancy Glucose intolerance Abnormality of glycosphingolipid metabolism Postaxial polydactyly Postaxial hand polydactyly Cholestasis Short phalanx of finger Rhizomelia Hepatic fibrosis Short ribs Oculomotor apraxia Short long bone Chronic kidney disease Cone-shaped epiphysis Thoracic hypoplasia Motor deterioration Visual field defect Nephronophthisis Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Lateral clavicle hook Scoliosis Midface retrusion Cherry red spot of the macula Absent speech Hernia Micrognathia Upper motor neuron dysfunction Developmental stagnation at onset of seizures Cerebellar atrophy Hypertension Peripheral demyelination Abnormality of metabolism/homeostasis Hyperhidrosis Brachycephaly Respiratory failure Osteopenia Neonatal hypotonia Neurological speech impairment Severe global developmental delay Abnormality of the cerebral white matter Hypodontia Tetraplegia Brain atrophy Dementia Bilateral sensorineural hearing impairment Gait disturbance Spastic tetraplegia Leukodystrophy Recurrent respiratory infections Intellectual disability, progressive Hand polydactyly Inverted nipples Abnormality of visual evoked potentials CNS demyelination Tapetoretinal degeneration Abnormality of nervous system morphology No social interaction Diffuse hepatic steatosis Peripheral neuropathy Skeletal muscle atrophy Dysphagia Myopia Dysarthria Type I transferrin isoform profile Cerebral atrophy Areflexia Hypogonadism Jaundice Thin vermilion border Nephropathy Ascites Nephrotic syndrome Large fontanelles Portal hypertension Abnormality of coagulation Abnormality of immune system physiology Nonimmune hydrops fetalis Abnormality of the amniotic fluid Wide nasal bridge Budd-Chiari syndrome Strabismus Chronic diarrhea Psychosis Low-set ears Depressed nasal bridge Epicanthus Cardiomegaly Urinary incontinence Progressive cerebellar ataxia Neurodegeneration Paralysis Oral cleft Respiratory tract infection Stage 5 chronic kidney disease Low anterior hairline Genu valgum Exertional dyspnea Attention deficit hyperactivity disorder Lethargy Lactic acidosis Metabolic acidosis Generalized muscle weakness Aciduria Intention tremor Decreased liver function Incoordination Poor suck Apathy Brisk reflexes Opisthotonus Polycythemia Hypoglycemia Neonatal hypoglycemia Hypothermia Organic aciduria Severe lactic acidosis Prolonged prothrombin time Vegetative state Methemoglobinemia Recurrent encephalopathy Fever Proptosis Skeletal dysplasia Arthralgia Myalgia Arthritis Abnormality of the liver Acidosis Papule Increased body weight Cryptorchidism Micropenis Muscular hypotonia of the trunk Attenuation of retinal blood vessels Macular edema Cystoid macular edema Immunodeficiency Recurrent infections Thrombocytopenia Pneumonia Abnormality of the nervous system Autistic behavior Neutropenia Increased bone mineral density Recurrent bacterial infections Gait ataxia Leukopenia Increased antibody level in blood Enlarged kidney Anisocytosis Poikilocytosis Extramedullary hematopoiesis Giant platelets Congenital neutropenia Myelofibrosis Pain Motor delay Encephalopathy Hyperactivity Abdominal pain Skin rash Nausea and vomiting Nyctalopia Severe vision loss Congenital cataract Talipes Narrow forehead Encephalocele Exotropia Abnormality of retinal pigmentation Cone/cone-rod dystrophy Hemiplegia/hemiparesis Abnormality of neuronal migration High hypermetropia Keratoconus Hyperactive deep tendon reflexes Congenital blindness Pendular nystagmus Short philtrum Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Short stature Ventricular septal defect Ventriculomegaly Respiratory distress Hydrocephalus Obesity Cleft lip Hypermetropia Abnormality of the kidney Lymphadenopathy Arthropathy Migraine Premature birth Overgrowth Meningitis Vasculitis Joint dislocation Purpura Increased intracranial pressure Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Amyloidosis Abnormality of the eye Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Cataract Dilatation Thin upper lip vermilion Photophobia Impaired thermal sensitivity


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