Cataract, and Hypertriglyceridemia

Diseases related with Cataract and Hypertriglyceridemia

In the following list you will find some of the most common rare diseases related to Cataract and Hypertriglyceridemia 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 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

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

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Other less relevant matches:

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match CONE-ROD DYSTROPHY 16; CORD16


Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 16; CORD16

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Cataract and Hypertriglyceridemia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized lipodystrophy Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Insulin resistance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Acanthosis nigricans Hypercholesterolemia Lipodystrophy Hypertension Hyperlipidemia Glucose intolerance Loss of subcutaneous adipose tissue in limbs Failure to thrive Osteolytic defects of the phalanges of the hand Abnormality of the skeletal system Congestive heart failure Obesity Prominent superficial veins Abnormality of skin pigmentation Delayed puberty Hearing impairment Thin skin Abnormality of the kidney Hyperinsulinemia Insulin-resistant diabetes mellitus Hyperglycemia Growth delay Round face Peripheral arterial stenosis Epidermal acanthosis Myopia Congenital cataract Reduced subcutaneous adipose tissue Hepatic steatosis

Rare Symptoms - Less than 30% cases


Abnormal vertebral morphology Abnormality of the dentition Frontal bossing Paralysis Deeply set eye Hyperkeratosis Osteoporosis Alopecia Short nose Edema Clinodactyly Areflexia Hypotrichosis Pain Neoplasm Clinodactyly of the 5th finger Generalized hypotonia Increased facial adipose tissue Increased adipose tissue around the neck Prominent forehead Scarring Conductive hearing impairment Intrauterine growth retardation Prematurely aged appearance Finger clinodactyly Short palm Retinal degeneration Pes planus Visual loss Microcornea Intellectual disability Global developmental delay Progeroid facial appearance Hypertelorism Telangiectasia of the skin Glomerulosclerosis Increased body weight Strabismus Brachycephaly Nephrotic syndrome Cryptorchidism Abnormality of the cardiovascular system Convex nasal ridge Full cheeks Short distal phalanx of finger Progressive clavicular acroosteolysis Upslanted palpebral fissure Dilatation Pigmentary retinopathy Aplasia/Hypoplasia of the skin Thin vermilion border Coronary artery atherosclerosis Skeletal muscle atrophy Retinopathy Hepatomegaly Secondary amenorrhea Pancreatitis Rod-cone dystrophy Nystagmus Ataxia Congenital generalized lipodystrophy Paresthesia Myopathy High forehead Absence of subcutaneous fat Atherosclerosis Hirsutism Hepatosplenomegaly Short clavicles Lipoatrophy Long nose Renal tubular acidosis Abnormality of the ureter Keratoconus Prolonged neonatal jaundice Portal hypertension Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Renal hypoplasia/aplasia Corneal dystrophy Spina bifida occulta Multicystic kidney dysplasia Posterior embryotoxon Progressive spastic paraplegia Exocrine pancreatic insufficiency Hypopigmentation of the fundus Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Fat malabsorption Hepatocellular carcinoma Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Intrahepatic cholestasis Hemivertebrae Pulmonary artery stenosis Abnormality of the vasculature Hyperacusis Dilatation of the cerebral artery Coronal craniosynostosis Cholestasis Pointed chin Abnormal tracheobronchial morphology Pulmonic stenosis Pruritus Broad forehead Short philtrum Stroke Abnormality of the liver Craniosynostosis Protruding ear Morphological abnormality of the middle ear Midline brain calcifications Anal atresia Carcinoma Abnormality of the forearm Elevated hepatic transaminase Jaundice Coarse facial features Macrotia Head-banging Frequent temper tantrums Acidosis Malabsorption Stage 5 chronic kidney disease Premature atrial contractions Tetralogy of Fallot Lymphedema Exotropia Renal dysplasia Abnormal form of the vertebral bodies Chronic hepatic failure Renal hypoplasia Coarctation of aorta Abnormality of the ribs Pelvic kidney Abnormality of upper lip Cirrhosis Specific learning disability Gastrointestinal hemorrhage Prominent nose Vesicoureteral reflux Triangular face Hypodontia Hypopigmentation of the skin Flat face Hepatic failure Multiple small medullary renal cysts Reduced number of intrahepatic bile ducts Intrahepatic biliary atresia Small hand Delayed eruption of teeth Drowsiness Overweight Self-mutilation Single transverse palmar crease Chronic constipation Short attention span Sleep disturbance Retinal detachment Nephropathy Esotropia Falls Bruxism Oral cleft Dry skin Duodenal atresia Synophrys Lethargy Microtia Thick upper lip vermilion Broad face Macroglossia Protruding tongue Deep palmar crease Broad palm Abnormality of the thyroid gland Open bite Impulsivity Self-injurious behavior Poor suck Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Lissencephaly Impaired pain sensation Hoarse voice Sinusitis Stereotypy Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Broad-based gait Decreased fetal movement Otitis media Abnormality of the larynx Hyperlordosis Unicoronal synostosis Cleft palate Ventriculomegaly Wide nasal bridge Brachydactyly Peripheral neuropathy Epicanthus Motor delay Delayed speech and language development Feeding difficulties Low-set ears Sensorineural hearing impairment Hypoplasia of the corpus callosum Scoliosis Microcephaly Seizures Velopharyngeal insufficiency Butterfly vertebral arch Abnormality of the immune system Excessive daytime sleepiness Rectourethral fistula Recurrent aspiration pneumonia Mood changes Anteverted nares Behavioral abnormality Abnormal renal morphology Everted upper lip vermilion Cleft lip Intellectual disability, moderate Cavum septum pellucidum Aggressive behavior Recurrent ear infections EEG abnormality Gastroesophageal reflux Polyhydramnios Mandibular prognathia Hypothyroidism Cerebral cortical atrophy Malar flattening Hyperactivity Posteriorly rotated ears Pes cavus Constipation Inguinal hernia Abnormal heart morphology Hyporeflexia Abnormality of metabolism/homeostasis Midface retrusion Abnormality of cardiovascular system morphology Anxiety Neoplasm of the oral cavity Delayed skeletal maturation Proptosis Sepsis Nail dystrophy Muscular dystrophy Sparse hair Joint stiffness Postnatal growth retardation Proximal muscle weakness Rigidity Retrognathia Narrow mouth Abnormality of the skin Hypospadias High palate Flexion contracture Muscle weakness Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Dental malocclusion Sparse scalp hair Abnormality of complement system Hypermelanotic macule Broad distal phalanx of finger Hypoplasia of teeth Calcinosis Vertebral compression fractures Down-sloping shoulders Narrow nose Premature loss of teeth Arthropathy Spinal rigidity Delayed cranial suture closure Large fontanelles High pitched voice Focal segmental glomerulosclerosis Hyperostosis Absent eyebrow Congenital muscular dystrophy Dermal atrophy Osteolysis Wormian bones Hyperpigmentation of the skin Dental crowding Sunken cheeks Adipose tissue loss Wide cranial sutures Brisk reflexes Papule Hypertrophic cardiomyopathy Myalgia Pectus excavatum Splenomegaly Cardiomyopathy Decreased adipose tissue around neck Lack of facial subcutaneous fat Orthostatic hypotension Clonus Infertility Abnormality of the face Hypotension Distal sensory impairment Dysmetria Lower limb muscle weakness Gait ataxia Babinski sign Hypocalcemia Neurodegeneration Narrow chest Myocardial infarction Osteopoikilosis Xanthomatosis Increased intraabdominal fat Abnormality of skeletal muscle fiber size Eclampsia Dysmenorrhea Abnormality of the menstrual cycle Acute pancreatitis Hyperlipoproteinemia Advanced eruption of teeth Decreased HDL cholesterol concentration Angina pectoris Abnormality of the nail Maternal diabetes Abnormality of lipid metabolism Hyperuricemia Glomerulopathy Cellulitis Skeletal muscle hypertrophy Polycystic ovaries Cranial nerve paralysis Spontaneous abortion Generalized hirsutism Narrow nasal ridge Breast aplasia Renal insufficiency Intervertebral disc degeneration Photophobia Reduced visual acuity Polydactyly Blindness Visual impairment Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Premature arteriosclerosis Neoplasm of the thyroid gland Nyctalopia Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Abnormal hair quantity Abnormality of the pulmonary artery Pallor Postaxial polydactyly Exercise-induced myalgia Bone spicule pigmentation of the retina Intellectual disability, mild Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Depressed nasal bridge Abnormal facial shape Beaten bronze macular sheen Temporal optic disc pallor Chorioretinal degeneration Attenuation of retinal blood vessels Retinal dystrophy Peripheral visual field loss Subcapsular cataract Macular atrophy Abnormality of color vision Constriction of peripheral visual field Hand polydactyly Cone/cone-rod dystrophy High myopia Optic disc pallor Progressive visual loss White forelock Chondrocalcinosis Hematemesis Stiff elbow Aortic valve stenosis Skin ulcer Abnormality of retinal pigmentation Decreased body weight Type II diabetes mellitus Mitral valve prolapse Hip dysplasia Limitation of joint mobility Hypogonadism Foamy urine Narrow face Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Abnormality of the hair Increased bone mineral density Lack of skin elasticity Sparse body hair Abnormality of the testis Pili torti Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Fragile nails Neoplasm of the lung Ovarian neoplasm Glycosuria Neoplasm of the skin Decreased fertility Aplasia/Hypoplasia of the eyebrow Premature graying of hair Calf muscle hypertrophy Rocker bottom foot Abnormality of the thorax Premature ovarian insufficiency Abnormality of the voice Laryngomalacia Reduced bone mineral density Sleep-wake inversion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Clinodactyly of the 5th finger, related diseases and genetic alterations Hydrocephalus and Dental malocclusion, related diseases and genetic alterations Depressed nasal bridge and Sensory neuropathy, related diseases and genetic alterations Cleft palate and Dandy-Walker malformation, related diseases and genetic alterations Nystagmus and Craniosynostosis, related diseases and genetic alterations

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