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:
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
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
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:
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
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
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
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
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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Obesity and Hypotension, related diseases and genetic alterations
Cleft palate and Coarctation of aorta, related diseases and genetic alterations
Failure to thrive and Short philtrum, related diseases and genetic alterations
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