Cataract, and Hyperlipidemia

Diseases related with Cataract and Hyperlipidemia

In the following list you will find some of the most common rare diseases related to Cataract and Hyperlipidemia 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 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 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

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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 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

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

Top 5 symptoms//phenotypes associated to Cataract and Hyperlipidemia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Insulin resistance Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Thin skin Uncommon - Between 30% and 50% cases
Hyperglycemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diabetes mellitus Generalized lipodystrophy Reduced subcutaneous adipose tissue Lipodystrophy Acanthosis nigricans Hepatic steatosis Micrognathia Epidermal acanthosis Congenital cataract Hyperinsulinemia Pancreatitis Glucose intolerance Prematurely aged appearance Insulin-resistant diabetes mellitus Loss of subcutaneous adipose tissue in limbs Alopecia Osteolytic defects of the phalanges of the hand Prominent superficial veins Progeroid facial appearance Obesity Hypertension Osteoporosis Hypercholesterolemia

Rare Symptoms - Less than 30% cases


Hepatomegaly Osteolytic defects of the distal phalanges of the hand Round face Thin vermilion border Hyperpigmentation of the skin Wormian bones Lack of skin elasticity Breast aplasia Osteolysis Dermal atrophy Acroosteolysis of distal phalanges (feet) Aplasia/Hypoplasia of the clavicles Failure to thrive Increased body weight Absence of subcutaneous fat Skeletal muscle atrophy Abnormality of the skeletal system Hypotrichosis Congestive heart failure Myopathy Delayed puberty Growth delay Hepatosplenomegaly Short distal phalanx of finger Large fontanelles Limitation of joint mobility Hirsutism Increased adipose tissue around the neck Increased facial adipose tissue Congenital generalized lipodystrophy Nystagmus Hearing impairment Rod-cone dystrophy Convex nasal ridge Flexion contracture High palate Abnormality of the dentition Retinal degeneration Abnormality of skin pigmentation Peripheral arterial stenosis Coronary artery atherosclerosis Short clavicles Secondary amenorrhea Atherosclerosis Aplasia/Hypoplasia of the skin Glycosuria Lipoatrophy Hyperuricemia Proptosis Hyperkeratosis Progressive clavicular acroosteolysis Abnormality of the cardiovascular system Sparse scalp hair Nephrotic syndrome Dental malocclusion Abnormality of the skin Full cheeks Joint stiffness Sepsis Short nose Sunken cheeks Loss of truncal subcutaneous adipose tissue Enlarged peripheral nerve Myelin tomacula Labial pseudohypertrophy Increased intramuscular fat Generalized hypotonia Neoplasm Muscle weakness Pain Edema Hypospadias Nail dystrophy Narrow mouth Retrognathia Rigidity Proximal muscle weakness Abnormality of the kidney Glomerulosclerosis Postnatal growth retardation Paralysis Sparse hair Scarring Muscular dystrophy Dental crowding Broad distal phalanx of finger Congenital muscular dystrophy Telangiectasia of the skin Osteosarcoma Renal neoplasm Meningioma Fragile nails Neoplasm of the lung Ovarian neoplasm Sparse body hair Decreased fertility Pili torti 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 Abnormality of the cerebral vasculature Abnormality of the testis Reduced bone mineral density Neoplasm of the small intestine Sclerosis of hand bone Patchy hypo- and hyperpigmentation Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Abnormality of the Achilles tendon Chondrocalcinosis Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Laryngomalacia Neoplasm of the skin Absent eyebrow Down-sloping shoulders Hematemesis Wide cranial sutures Narrow nasal ridge Adipose tissue loss Hypoplasia of teeth Calcinosis Vertebral compression fractures Narrow nose Bird-like facies Premature loss of teeth Arthropathy Spinal rigidity Hypermelanotic macule Delayed cranial suture closure High pitched voice Focal segmental glomerulosclerosis Hyperostosis Mottled pigmentation Limb-girdle muscle atrophy Finger clinodactyly Type II diabetes mellitus Increased bone mineral density Narrow face Abnormality of the hair Aortic valve stenosis Skin ulcer Abnormality of retinal pigmentation Decreased body weight Mitral valve prolapse Thin clavicles Hip dysplasia Short palm Pes planus Hypogonadism Stiff elbow Foamy urine Abnormality of the fingertips Foot pain Abnormality of complement system Infertility Osteopoikilosis Global developmental delay Lower limb muscle weakness Dysmetria Paresthesia Distal sensory impairment Hypotension Pigmentary retinopathy Abnormality of the face Clonus Brisk reflexes Orthostatic hypotension Lack of facial subcutaneous fat Decreased adipose tissue around neck Fever Gait ataxia Vomiting Constipation Severe short stature Acidosis Osteopenia Hypoglycemia Proteinuria Hyperlordosis Malabsorption Nephropathy Metabolic acidosis Abdominal distention Aminoaciduria Retinopathy Babinski sign Elevated alkaline phosphatase Progressive visual loss Neurodegeneration Hypocalcemia Visual impairment Myopia Blindness Visual loss Polydactyly Reduced visual acuity Photophobia Pallor Nyctalopia Postaxial polydactyly Retinal dystrophy Optic disc pallor Ataxia High myopia Cone/cone-rod dystrophy Hand polydactyly Constriction of peripheral visual field Abnormality of color vision Macular atrophy Subcapsular cataract Peripheral visual field loss Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Chorioretinal degeneration Temporal optic disc pallor Beaten bronze macular sheen Hypokalemia Hypercalciuria Increased intraabdominal fat Skeletal muscle hypertrophy Pectus excavatum High forehead Myalgia Hypertrophic cardiomyopathy Papule Narrow chest Myocardial infarction Abnormality of the nail Generalized hirsutism Spontaneous abortion Cranial nerve paralysis Polycystic ovaries Cellulitis Splenomegaly Glomerulopathy Abnormality of lipid metabolism Maternal diabetes Angina pectoris Xanthomatosis Decreased HDL cholesterol concentration Advanced eruption of teeth Hyperlipoproteinemia Acute pancreatitis Abnormality of the menstrual cycle Dysmenorrhea Eclampsia Abnormality of skeletal muscle fiber size Dilatation Cardiomyopathy Polydipsia Microalbuminuria Rickets Polyuria Bowing of the legs Hypophosphatemia Osteomalacia Renal tubular acidosis Poor appetite Protuberant abdomen Ketosis Renal tubular dysfunction Ketonuria Hyperphosphaturia Fasting hypoglycemia Generalized aminoaciduria Abnormal eyebrow morphology Hypouricemia Hypergalactosemia Mild proteinuria Albuminuria Galactosuria Hyperuricosuria Impairment of galactose metabolism Galactose intolerance Chronic acidosis Muscular hypotonia Arthralgia Abnormality of the musculature Absent eyelashes Abnormality of circulating leptin level



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Coarse facial features, related diseases and genetic alterations Congestive heart failure and Dementia, related diseases and genetic alterations Delayed speech and language development and Large fontanelles, related diseases and genetic alterations Edema and Myalgia, related diseases and genetic alterations Muscle weakness and Glioma, related diseases and genetic alterations

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