Hepatomegaly, and Retinal dystrophy

Diseases related with Hepatomegaly and Retinal dystrophy

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


Top matches:

Medium match RETINITIS PIGMENTOSA 59; RP59


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1


Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Medium match PEROXISOME BIOGENESIS DISORDER 4B; PBD4B


Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

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Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


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

Medium 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

Medium match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


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

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Medium match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


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

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

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Hypertelorism Pigmentary retinopathy Retinopathy Abnormal electroretinogram Generalized hypotonia Retinal degeneration Nystagmus Failure to thrive Blindness Respiratory insufficiency Visual loss Ataxia Cholestasis Optic atrophy Gait disturbance Spasticity Abnormality of the liver Decreased liver function Growth delay Muscular hypotonia Splenomegaly Cataract

Rare Symptoms - Less than 30% cases


Wide nasal bridge Dysphagia Polyneuropathy Depressivity Polydactyly Myopia Intellectual disability, severe Cone/cone-rod dystrophy Peripheral neuropathy Abnormality of the skeletal system Decreased light- and dark-adapted electroretinogram amplitude Dysarthria Neonatal hypotonia Strabismus Tremor Elevated hepatic transaminase Respiratory distress Single transverse palmar crease Fat malabsorption Abnormality of the cerebral white matter Frontal bossing Cirrhosis Coarse facial features Renal insufficiency Hypertonia Status epilepticus Distal sensory impairment Short stature Diarrhea Areflexia Pes cavus Hyperactivity Hepatosplenomegaly Cerebellar vermis hypoplasia Epicanthus Mental deterioration Irritability Hepatic fibrosis Photophobia Abnormality of the eye Depressed nasal bridge Low-set ears Hepatic failure Steatorrhea Stage 5 chronic kidney disease Postaxial hand polydactyly Hydrocephalus Obesity Ventriculomegaly Cleft lip Nyctalopia Short long bone Genu valgum Chronic kidney disease Short phalanx of finger Oral cleft Postaxial polydactyly Oculomotor apraxia Rhizomelia Short ribs Mandibular prognathia Ventricular septal defect High hypermetropia Thin upper lip vermilion Abnormality of the kidney Short philtrum Hypermetropia Congenital cataract Talipes Narrow forehead Encephalocele Exotropia Abnormality of retinal pigmentation Low anterior hairline Hemiplegia/hemiparesis Abnormality of neuronal migration Keratoconus Brachydactyly Hyperactive deep tendon reflexes Congenital blindness Dilatation Glucose intolerance Severe vision loss Biliary tract abnormality Pendular nystagmus Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Cone-shaped epiphysis Everted lower lip vermilion Thoracic hypoplasia Tetraplegia Hypoplasia of the corpus callosum Dystonia Abnormality of metabolism/homeostasis Babinski sign Myoclonus Brachycephaly Respiratory failure Osteopenia EEG abnormality Developmental regression Neurological speech impairment Severe global developmental delay Hypodontia Brain atrophy Cellular metachromasia Peripheral demyelination Generalized-onset seizure Bilateral sensorineural hearing impairment Spastic tetraplegia Leukodystrophy Intellectual disability, progressive Hand polydactyly Inverted nipples Abnormality of visual evoked potentials CNS demyelination Tapetoretinal degeneration Abnormality of nervous system morphology No social interaction Hyperreflexia Dense calvaria Visual field defect Synophrys Nephronophthisis Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Lateral clavicle hook Motor delay Behavioral abnormality Hernia Kyphoscoliosis Umbilical hernia Respiratory tract infection Joint stiffness Dolichocephaly Hirsutism Ovoid thoracolumbar vertebrae Atrophy/Degeneration affecting the brainstem Sleep disturbance Hypertrichosis Growth abnormality Coarse hair Recurrent upper respiratory tract infections Restlessness Loss of speech Dysostosis multiplex Motor deterioration Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Iris hypopigmentation Myocardial necrosis Agitation Very long chain fatty acid accumulation Decreased nerve conduction velocity Adrenal insufficiency Ureterocele Malar flattening Hyporeflexia Osteoporosis Dry skin Flat face Abnormal bleeding Depressed nasal ridge Hypocholesterolemia Esodeviation Muscle weakness Macrocephaly Pain Cognitive impairment Hypertension Skeletal muscle atrophy Fatigue Cardiomyopathy Myopathy Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Reduced visual acuity Proximal muscle weakness Hypertrophic cardiomyopathy Short nose Intrahepatic cholestasis with episodic jaundice Dilated cardiomyopathy Pruritus Cryptorchidism Feeding difficulties Intrauterine growth retardation Edema Micropenis Muscular hypotonia of the trunk Attenuation of retinal blood vessels Macular edema Cystoid macular edema Severe short stature Jaundice Carcinoma Ophthalmoplegia Increased serum bile acid concentration Sepsis Neuronal loss in central nervous system Hyperbilirubinemia Pancreatitis Congenital sensorineural hearing impairment Malnutrition Hepatocellular carcinoma Thrombocytosis Intrahepatic cholestasis Conjugated hyperbilirubinemia Intermittent jaundice Vitamin E deficiency Civatte bodies Scarring Limb muscle weakness Apathy Unsteady gait Ventricular preexcitation Left ventricular systolic dysfunction Macular hypopigmentation Suicidal ideation Increased cerebral lipofuscin Glycogen accumulation in muscle fiber lysosomes Vomiting Headache Encephalopathy Hypogonadism Gait ataxia Confusion Peripheral axonal neuropathy Exercise-induced muscle cramps Nausea Sensory neuropathy Coma Sensory impairment Migraine Type II diabetes mellitus Intention tremor Hemiparesis Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Impaired myocardial contractility Retinal pigment epithelial mottling Distal amyotrophy EMG: myopathic abnormalities Chest pain Progressive visual loss Cardiomegaly Psychosis Ventricular hypertrophy Atrial fibrillation Palpitations Left ventricular hypertrophy Cardiac arrest Exercise intolerance Hyperlipidemia Ventricular tachycardia Respiratory insufficiency due to muscle weakness Ventricular arrhythmia Muscle flaccidity Back pain Neurodevelopmental delay Generalized amyotrophy Abnormal retinal morphology Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Reduced ejection fraction Wolff-Parkinson-White syndrome Myocardial fibrosis Myofibrillar myopathy Skeletal myopathy Autophagic vacuoles Diffuse hepatic steatosis



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