Cataract, and Hepatic steatosis

Diseases related with Cataract and Hepatic steatosis

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


Top matches:

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3


Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS ), which is associated with heterozygous mutation in the CAV1 gene.

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 Is also known as berardinelli-seip congenital lipodystrophy, type 3|bscl3|lipodystrophy, berardinelli-seip congenital, type 3

Related symptoms:

  • Short stature
  • Cataract
  • Diabetes mellitus
  • Hepatosplenomegaly
  • Congenital cataract


SOURCES: OMIM MESH MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

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Other less relevant matches:

Low match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Low match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Low match SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as scad deficiency|scadh deficiency|acads deficiency|lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency|scadd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low 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

Low match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Top 5 symptoms//phenotypes associated to Cataract and Hepatic steatosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Hepatic steatosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hyperlordosis Hypoglycemia Acidosis Metabolic acidosis Vomiting Failure to thrive Growth delay Muscular dystrophy Hepatomegaly Congenital cataract Hepatosplenomegaly Ataxia Seizures Feeding difficulties Generalized hypotonia Microcephaly

Rare Symptoms - Less than 30% cases


Respiratory distress Fatigue Elevated serum creatine phosphokinase Dementia Scoliosis Cerebral cortical atrophy EEG abnormality Elevated alkaline phosphatase Proximal muscle weakness Limb-girdle muscular dystrophy Spasticity Facial palsy Muscular hypotonia Aminoaciduria Decreased plasma carnitine Scapular winging Hypercholesterolemia Constipation Cerebellar atrophy Tetraparesis Cerebral atrophy Reduced subcutaneous adipose tissue Elevated hepatic transaminase Ptosis Gait disturbance Delayed speech and language development Intrauterine growth retardation Abnormality of the liver Hypertonia Encephalopathy Progressive proximal muscle weakness Feeding difficulties in infancy Skeletal muscle atrophy Hyperphosphaturia Glycosuria Waddling gait Sensorineural hearing impairment Strabismus Nystagmus Hearing impairment Pain Dystonia Congestive heart failure Attention deficit hyperactivity disorder Brachycephaly Difficulty walking Carious teeth Unsteady gait Generalized tonic-clonic seizures Poor speech Myalgia Abnormality of movement Hyporeflexia Hyperkeratosis Organic aciduria Absent speech Aciduria Temporal cortical atrophy Ubiquitin-positive cerebral inclusion bodies Abnormal motor neuron morphology Weakness of muscles of respiration Flexion contracture Optic atrophy Hyperactivity Respiratory tract infection Lethargy Abnormality of the cerebral white matter Ophthalmoplegia Decreased fetal movement Tremor Psychosis External ophthalmoplegia Progressive external ophthalmoplegia Muscle cramps U-Shaped upper lip vermilion Nonketotic hypoglycemia Episodic metabolic acidosis Ethylmalonic aciduria Hypoglycemic encephalopathy Motor delay Dysarthria Myopia Inability to walk Speech apraxia Chorea Cardiomegaly Severe muscular hypotonia Exercise intolerance Decreased liver function Hallucinations Cholestasis Hypertrichosis Pigmentary retinopathy Ragged-red muscle fibers Increased serum lactate Delayed myelination Coma Sensory neuropathy Hepatic failure Lactic acidosis Spastic tetraparesis Brittle hair Retinopathy Microvesicular hepatic steatosis Decreased mitochondrial complex III activity in liver tissue Persistent lactic acidosis Mitochondrial encephalopathy Histiocytoid cardiomyopathy Food intolerance Abnormality of the abdominal wall Hyperechogenic kidneys Nephritis Proximal tubulopathy Cholangitis Tubulointerstitial nephritis Myoglobinuria Rhabdomyolysis Abnormality of the coagulation cascade Emotional lability Small for gestational age Developmental regression Focal-onset seizure Gowers sign Achalasia Esophagitis Restrictive ventilatory defect Adrenal insufficiency Athetosis Impulsivity CNS hypomyelination Recurrent ear infections Infantile muscular hypotonia Truncal ataxia Lower limb spasticity Apraxia Generalized-onset seizure Hip dysplasia Abnormality of long bone morphology Muscle fiber atrophy Muscular hypotonia of the trunk Hyperreflexia Hypertrophic cardiomyopathy Coarse facial features Rod-cone dystrophy Visual loss Depressivity Blindness Peripheral neuropathy Alacrima Epicanthus Cognitive impairment Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Pelvic girdle amyotrophy Difficulty climbing stairs Semantic dementia Malabsorption Ectropion Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Generalized ichthyosis Fever Obesity Severe short stature Osteoporosis Osteopenia Proteinuria Nephropathy Aortic regurgitation Abdominal distention Increased body weight Pancreatitis Hyperlipidemia Hypokalemia Hypercalciuria Polydipsia Rickets Hyperglycemia Polyuria Bowing of the legs Hypophosphatemia Osteomalacia Hyperuricemia Scaling skin Everted lower lip vermilion Poor appetite Arthralgia Diabetes mellitus Hirsutism Neurodegeneration Hypertriglyceridemia Insulin resistance Hypocalcemia Acanthosis nigricans Lipodystrophy Generalized lipodystrophy Congenital generalized lipodystrophy Anemia Arrhythmia Abdominal pain Scarring Ichthyosis Cirrhosis Limitation of joint mobility Osteoarthritis Hepatic fibrosis Joint dislocation Glucose intolerance Impotence Generalized hyperpigmentation Joint swelling Increased serum ferritin Congenital hepatic fibrosis Areflexia Alopecia Microtia Renal tubular acidosis Protuberant abdomen Scapuloperoneal weakness Motor axonal neuropathy Increased variability in muscle fiber diameter Sensory axonal neuropathy Alzheimer disease Amyotrophic lateral sclerosis Aphasia Dysphasia Generalized amyotrophy Pathologic fracture Abnormality of the vertebral column Rimmed vacuoles Urinary bladder sphincter dysfunction Frontotemporal dementia EMG: neuropathic changes Shoulder girdle muscle weakness Language impairment Upper motor neuron dysfunction Pelvic girdle muscle weakness Hip pain Shoulder girdle muscle atrophy EMG: chronic denervation signs Abnormality of calvarial morphology Dyscalculia Fatty replacement of skeletal muscle Motor neuron atrophy Calvarial hyperostosis Cranial nerve compression Pelvic girdle muscle atrophy Frontal cortical atrophy Elevated alkaline phosphatase of bone origin Spinal muscular atrophy Back pain Ketosis Chronic acidosis Renal tubular dysfunction Ketonuria Fasting hypoglycemia Microalbuminuria Generalized aminoaciduria Hypouricemia Hypergalactosemia Mild proteinuria Albuminuria Galactosuria Hyperuricosuria Impairment of galactose metabolism Galactose intolerance Ventriculomegaly Increased susceptibility to fractures Dilatation Respiratory failure Distal muscle weakness Limb muscle weakness Distal amyotrophy Brain atrophy Neuronal loss in central nervous system Lumbar hyperlordosis Progressive muscle weakness Fasciculations Osteolysis EMG: myopathic abnormalities Mutism Abnormality of pelvic girdle bone morphology Postterm pregnancy



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