Cataract, and Nephrolithiasis

Diseases related with Cataract and Nephrolithiasis

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


Top matches:

Low match HYPERGLYCINURIA


The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate nephrolithiasis|glycinuria with or without oxalate urolithiasis|iminoglycinuria type ii

Related symptoms:

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERGLYCINURIA

Low match PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS


Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

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Other less relevant matches:

Low match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Top 5 symptoms//phenotypes associated to Cataract and Nephrolithiasis

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Sleep disturbance Visual impairment Anxiety Abdominal pain Recurrent fractures

Rare Symptoms - Less than 30% cases


Headache Psychosis Visual loss Immunodeficiency Edema Diabetes mellitus Lethargy Infertility Bruising susceptibility Myopathy Cardiomyopathy Round face Fatigue Failure to thrive Generalized hirsutism Thin skin Adrenal hyperplasia Abnormality of vision Abnormality of the eye Jaundice Agitation Hypotension Muscle weakness Metrorrhagia Onychomycosis Pituitary adenoma Bipolar affective disorder Hearing impairment Aseptic necrosis Generalized hyperpigmentation Telangiectasia of the skin Truncal obesity Menorrhagia Acne Premature ovarian insufficiency Hypokalemia Recurrent skin infections Venous thrombosis Nystagmus Lipodystrophy Abnormality of the cerebral white matter Stage 5 chronic kidney disease Aminoaciduria Hydronephrosis Nephrocalcinosis Optic atrophy Spasticity Muscular hypotonia Global developmental delay Cognitive impairment Intellectual disability, mild Renal insufficiency Renal hypoplasia Abnormality of the kidney Proteinuria Congenital cataract Microphthalmia Glycosuria Chronic kidney disease Atherosclerosis Cholelithiasis Hypercholesterolemia Parkinsonism Cerebral calcification Hepatitis Myocardial infarction Joint dislocation Progressive neurologic deterioration Hallucinations Optic disc pallor Chronic diarrhea Abnormality of extrapyramidal motor function Intention tremor Cholestasis Truncal ataxia Bowing of the legs Progressive cerebellar ataxia Myoclonus Ataxia Peripheral neuropathy Hyperreflexia Dysarthria Tremor Respiratory insufficiency Cerebellar atrophy Diarrhea Behavioral abnormality Dystonia Cerebral atrophy Dementia Syncope Abnormal cerebellum morphology EEG abnormality Aggressive behavior Tachycardia Developmental regression Pallor Joint stiffness Abnormal pyramidal sign Neurological speech impairment Spastic paraplegia Malabsorption Paraplegia Neurodegeneration Delusions Abnormality of the periventricular white matter Frontotemporal dementia Primary hypercortisolism Palpebral edema Abnormality of epiphysis morphology Sinusitis Abnormality of the hair Reduced tendon reflexes Oligodontia Anosmia Goiter Growth abnormality Intestinal obstruction Tracheoesophageal fistula Abnormality of the thyroid gland Prolonged neonatal jaundice Congenital hypothyroidism Abnormal eyelid morphology Abnormality of the face Hypothermia Anterior hypopituitarism Pseudohypoparathyroidism Primary hypothyroidism Thyroid hypoplasia Increased thyroid-stimulating hormone level Hoarse cry Ectopic thyroid Abnormal pericardium morphology Thyroid agenesis Angiokeratoma corporis diffusum Compensated hypothyroidism Thyroid dysgenesis Large posterior fontanelle Large fontanelles Depressed nasal ridge Angina pectoris EEG with generalized slow activity Xanthomatosis Precocious atherosclerosis Decreased HDL cholesterol concentration Myelopathy Pseudobulbar paralysis Xanthelasma Giant cell hepatitis Juvenile cataract Tendon xanthomatosis Abnormality of cholesterol metabolism Frontal lobe dementia EMG: axonal abnormality Palatal myoclonus Abnormality of the dentate nucleus Tuberous xanthoma Macroglossia Abnormality of central somatosensory evoked potentials Feeding difficulties Intellectual disability, severe Arrhythmia Constipation Hypogonadism Hypothyroidism Coarse facial features Umbilical hernia Feeding difficulties in infancy Paresthesia Dry skin Oral cleft Abdominal distention Abnormality of metabolism/homeostasis Striae distensae Macronodular adrenal hyperplasia Abnormality of the genital system Glaucoma Reduced visual acuity Joint laxity Coloboma Joint hyperflexibility Confusion Nephropathy Retinal detachment Gliosis Vesicoureteral reflux Progressive visual loss Renal dysplasia Hydrocephalus Horseshoe kidney Multicystic kidney dysplasia Macular degeneration Abnormality of the genitourinary system Hyperextensible skin Nephritis Visual field defect Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Soft skin Abnormality of the vasculature Glomerulosclerosis Myopia Elevated serum creatinine Enlarged epiphyses Osteomalacia Microscopic hematuria Delayed epiphyseal ossification Mild global developmental delay Tubular atrophy Abnormality of the lower limb Hyperphosphaturia Thin bony cortex Proximal tubulopathy Tubulointerstitial fibrosis Renal phosphate wasting Enlargement of the wrists Rickets Low-molecular-weight proteinuria Bulging epiphyses Sparse bone trabeculae Enlargement of the ankles Hyperuricosuria Increased serum 1,25-dihydroxyvitamin D3 Renal hypophosphatemia Non-acidotic proximal tubulopathy Focal segmental glomerulosclerosis Metaphyseal irregularity Strabismus Sensorineural hearing impairment Multiple renal cysts Hydrocele testis Dorsocervical fat pad Mental deterioration Hyporeflexia Absent speech Dysphagia Microcephaly Paroxysmal tachycardia Neoplasm Calcium oxalate nephrolithiasis Skeletal muscle atrophy Kyphosis Obesity Osteopenia Hirsutism Inability to walk Hyperglycinuria Memory impairment Increased body weight Orthostatic hypotension Hypophosphatemia Subarachnoid hemorrhage Increased circulating cortisol level Neoplasm of the endocrine system Abdominal obesity Decreased circulating ACTH level Mood changes Moon facies Gastroesophageal reflux Delayed myelination Optic nerve coloboma Morning glory anomaly Retinal coloboma High-frequency hearing impairment Ureteropelvic junction obstruction Pyelonephritis Platybasia Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Orbital cyst Poor head control Macular hyperpigmentation Recurrent pyelonephritis Ureterovesical junction obstruction Hypercalciuria Bone pain Aciduria Hematuria Difficulty walking Elevated serum creatine phosphokinase Pain Generalized hypotonia Calcinosis Abnormality of reproductive system physiology



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