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Lowe syndrome(OCRL)

MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Synonyms: Lowe oculocerebrorenal syndrome; OCRL; Oculocerebrorenal Syndrome; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected.
SNOMED CT: Oculocerebrorenal dystrophy (79385002); Cerebro-oculorenal dystrophy (79385002); Lowe disease (79385002); Lowe syndrome (79385002); Oculocerebrorenal syndrome (79385002); Renal-oculocerebrodystrophy (79385002); Lowe-Terrey-MacLachlan syndrome (79385002); Lowe-Bickel syndrome (79385002)
 
Gene (location): OCRL (Xq26.1)
OMIM®: 309000
Orphanet: ORPHA534

Disease characteristics

Excerpted from the GeneReview: Lowe Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Richard Alan Lewis  |  Robert L Nussbaum  |  Eileen D Brewer   view full author information

Additional description

From GHR
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking. Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).  http://ghr.nlm.nih.gov/condition/lowe-syndrome

Clinical features

Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Odontogenic neoplasm
MedGen UID:
506496
Concept ID:
CN117504
Finding
Neoplasm involving odontogenic cells, an odontogenic tumor.
Benign neoplasm of the central nervous system
MedGen UID:
452047
Concept ID:
CN117724
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Bicarbonaturia
MedGen UID:
326596
Concept ID:
C1839865
Finding
Renal Fanconi syndrome
MedGen UID:
341766
Concept ID:
C1857397
Finding
Functional abnormality of male internal genitalia
MedGen UID:
427387
Concept ID:
CN000026
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Abnormality of the renal tubule
MedGen UID:
424979
Concept ID:
CN000091
Finding
An abnormality of the renal tubules.
Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Nephrocalcinosis
MedGen UID:
504348
Concept ID:
CN000117
Finding
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Nephrolithiasis
MedGen UID:
504597
Concept ID:
CN000736
Finding
The presence of calculi (stones) in the kidneys.
Proximal renal tubular acidosis
MedGen UID:
505072
Concept ID:
CN001853
Finding
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
Hypercalciuria
MedGen UID:
505127
Concept ID:
CN001948
Finding
Hyperphosphaturia
MedGen UID:
505453
Concept ID:
CN002803
Finding
An increased excretion of phosphates in the urine.
Aminoaciduria
MedGen UID:
425142
Concept ID:
CN003029
Finding
An increased concentration of an amino acid in the urine.
Urogenital fistula
MedGen UID:
506491
Concept ID:
CN117482
Finding
The presence of a fistula affecting the genitourinary system.
Glomerulopathy
MedGen UID:
506545
Concept ID:
CN117710
Finding
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Deep philtrum
MedGen UID:
374311
Concept ID:
C1839797
Finding
Open mouth
MedGen UID:
346627
Concept ID:
C1857628
Finding
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Delayed eruption of teeth
MedGen UID:
400949
Concept ID:
C1866235
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Cheilitis
MedGen UID:
409535
Concept ID:
C1962954
Finding
Abnormality of the palate
MedGen UID:
427798
Concept ID:
CN000169
Finding
Any abnormality of the palate, i.e., of roof of the mouth).
Gingivitis
MedGen UID:
504401
Concept ID:
CN000222
Finding
Inflammation of the gingiva.
Everted lower lip vermilion
MedGen UID:
504402
Concept ID:
CN000224
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Thin vermilion border
MedGen UID:
504403
Concept ID:
CN000225
Finding
Reduced width of the \
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Taurodontia
MedGen UID:
504554
Concept ID:
CN000639
Finding
Increased volume of dental pulp of permanent molar.
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Periodontitis
MedGen UID:
504563
Concept ID:
CN000661
Finding
Inflammation of the periodontium.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the dental enamel.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Abnormality of dentin
MedGen UID:
429964
Concept ID:
CN009131
Finding
Any abnormality of dentin.
Odontogenic neoplasm
MedGen UID:
506496
Concept ID:
CN117504
Finding
Neoplasm involving odontogenic cells, an odontogenic tumor.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Abnormality of the pupil
MedGen UID:
450993
Concept ID:
C0154936
Finding
Congenital cataract
MedGen UID:
330823
Concept ID:
C1842324
Finding
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Chorioretinal abnormality
MedGen UID:
425000
Concept ID:
CN000498
Finding
An abnormality of the choroid and retina.
Buphthalmos
MedGen UID:
504496
Concept ID:
CN000523
Finding
Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Lacrimation abnormality
MedGen UID:
425004
Concept ID:
CN000594
Finding
Abnormality of tear production.
Dense posterior cortical cataract
MedGen UID:
429169
Concept ID:
CN006982
Finding
A type of posterior cortical cataract characterized by dense lenticular opacities.
Aplasia/Hypoplasia of the lens
MedGen UID:
429190
Concept ID:
CN007090
Finding
Absence or underdevelopment of the lens.
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Periventricular cysts
MedGen UID:
326980
Concept ID:
C1839858
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Aggressive behavior
MedGen UID:
504570
Concept ID:
CN000675
Finding
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Obsessive-compulsive behavior
MedGen UID:
504572
Concept ID:
CN000679
Finding
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Stereotypic behavior
MedGen UID:
427832
Concept ID:
CN000689
Finding
A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Reduced tendon reflexes
MedGen UID:
427865
Concept ID:
CN001205
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Involuntary movements
MedGen UID:
428446
Concept ID:
CN003806
Finding
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Self-injurious behavior
MedGen UID:
506521
Concept ID:
CN117607
Finding
Aggression towards oneself.
Benign neoplasm of the central nervous system
MedGen UID:
452047
Concept ID:
CN117724
Finding
Hyperaldosteronism
MedGen UID:
344594
Concept ID:
C1855850
Finding
Hyperparathyroidism
MedGen UID:
504623
Concept ID:
CN000789
Finding
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Diabetes insipidus
MedGen UID:
504639
Concept ID:
CN000819
Finding
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
Wrist swelling
MedGen UID:
116125
Concept ID:
C0241760
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Platyspondyly
MedGen UID:
355353
Concept ID:
C1865023
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Joint swelling
MedGen UID:
504823
Concept ID:
CN001268
Finding
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Rickets
MedGen UID:
505342
Concept ID:
CN002493
Finding
Osteomalacia
MedGen UID:
505343
Concept ID:
CN002494
Finding
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Pathologic fracture
MedGen UID:
505347
Concept ID:
CN002501
Finding
A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Recurrent fractures
MedGen UID:
500939
Concept ID:
CN002502
Finding
The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Abnormality of epiphysis morphology
MedGen UID:
425804
Concept ID:
CN005226
Finding
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Atypical scarring of skin
MedGen UID:
427850
Concept ID:
CN000924
Finding
Atypically scarred skin .
Subcutaneous nodule
MedGen UID:
504840
Concept ID:
CN001357
Finding
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Generalized hypopigmentation
MedGen UID:
425911
Concept ID:
CN006589
Finding
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Abnormal hair quantity
MedGen UID:
489172
Concept ID:
CN167090
Finding
An abnormal amount of hair.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
A disorder characterized by laboratory test results that indicate a low concentration of potassium in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Pathologic Function
A disorder characterized by laboratory test results that indicate a low concentration of sodium in the blood.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Hypercholesterolemia
MedGen UID:
312004
Concept ID:
C1522133
Laboratory or Test Result
A laboratory test result indicating an increased amount of cholesterol in the blood.
Elevated amniotic fluid alpha-fetoprotein
MedGen UID:
333423
Concept ID:
C1839860
Finding
Bicarbonaturia
MedGen UID:
326596
Concept ID:
C1839865
Finding
Dehydration
MedGen UID:
776589
Concept ID:
C2712335
Finding
Joint swelling
MedGen UID:
504823
Concept ID:
CN001268
Finding
Proximal renal tubular acidosis
MedGen UID:
505072
Concept ID:
CN001853
Finding
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
Hypophosphatemia
MedGen UID:
505125
Concept ID:
CN001946
Finding
An abnormally decreased phosphate concentration in the blood.
Hypercalciuria
MedGen UID:
505127
Concept ID:
CN001948
Finding
Hyperphosphaturia
MedGen UID:
505453
Concept ID:
CN002803
Finding
An increased excretion of phosphates in the urine.
Abnormality of lipid metabolism
MedGen UID:
428327
Concept ID:
CN002813
Finding
An abnormality in the of lipid metabolism.
Elevated serum acid phosphatase
MedGen UID:
505466
Concept ID:
CN002840
Finding
Aminoaciduria
MedGen UID:
425142
Concept ID:
CN003029
Finding
An increased concentration of an amino acid in the urine.
Elevated maternal serum alpha-fetoprotein
MedGen UID:
505876
Concept ID:
CN005273
Finding
An elevation of alpha-feto protein in the maternal serum.
Oligosacchariduria
MedGen UID:
429573
Concept ID:
CN009302
Finding
Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.
Hypoammonemia
MedGen UID:
451847
Concept ID:
CN117386
Finding
A decreased concentration of ammonia in the blood.
Vitamin D deficiency
MedGen UID:
506470
Concept ID:
CN117405
Finding
Abnormality of calcium-phosphate metabolism
MedGen UID:
451867
Concept ID:
CN117423
Finding
Respiratory insufficiency
MedGen UID:
155440
Concept ID:
C0748358
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Atelectasis
MedGen UID:
368769
Concept ID:
C1962948
Pathologic Function
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Neonatal hypotonia
MedGen UID:
331807
Concept ID:
C1834679
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Atypical scarring of skin
MedGen UID:
427850
Concept ID:
CN000924
Finding
Atypically scarred skin .
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Wrist swelling
MedGen UID:
116125
Concept ID:
C0241760
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGLowe syndrome

Recent clinical studies

Etiology

Zhang YQ, Wang F, Ding J, Yan H, Yang YL
World J Pediatr 2013 Feb;9(1):53-7. Epub 2013 Feb 7 doi: 10.1007/s12519-013-0406-4. [Epub ahead of print] PMID: 23389333
Ke YH, He JW, Fu WZ, Zhang ZL
Nephrology (Carlton) 2012 Jan;17(1):20-5. doi: 10.1111/j.1440-1797.2011.01514.x. PMID: 21854507
Lasne D, Baujat G, Mirault T, Lunardi J, Grelac F, Egot M, Salomon R, Bachelot-Loza C
Br J Haematol 2010 Sep;150(6):685-8. doi: 10.1111/j.1365-2141.2010.08304.x. PMID: 20629659
Lin T, Lewis RA, Nussbaum RL
Ophthalmology 1999 Jan;106(1):119-22. doi: 10.1016/S0161-6420(99)90012-X. PMID: 9917791
Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL
Prenat Diagn 1998 Nov;18(11):1117-21. PMID: 9854717

Diagnosis

Zhang YQ, Wang F, Ding J, Yan H, Yang YL
World J Pediatr 2013 Feb;9(1):53-7. Epub 2013 Feb 7 doi: 10.1007/s12519-013-0406-4. [Epub ahead of print] PMID: 23389333
Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M
Klin Padiatr 2013 Jan;225(1):29-33. Epub 2012 Aug 22 doi: 10.1055/s-0032-1321900. [Epub ahead of print] PMID: 22915452
Peces R, Peces C, de Sousa E, Vega C, Selgas R, Nevado J
Int Urol Nephrol 2013 Dec;45(6):1767-71. Epub 2012 Jul 21 doi: 10.1007/s11255-012-0246-5. [Epub ahead of print] PMID: 22821049
Ke YH, He JW, Fu WZ, Zhang ZL
Nephrology (Carlton) 2012 Jan;17(1):20-5. doi: 10.1111/j.1440-1797.2011.01514.x. PMID: 21854507
Şimşek E, Şimşek T, Dallar Y, Can Ö, Willems PJ
J Clin Res Pediatr Endocrinol 2011;3(1):29-31. Epub 2011 Feb 23 doi: 10.4274/jcrpe.v3i1.06. PMID: 21448331Free PMC Article

Therapy

Hou JW
J Formos Med Assoc 2009 Sep;108(9):730-5. doi: 10.1016/S0929-6646(09)60397-1. PMID: 19773212
Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M
Clin J Am Soc Nephrol 2008 Sep;3(5):1430-6. Epub 2008 May 14 doi: 10.2215/CJN.00520108. [Epub ahead of print] PMID: 18480301Free PMC Article
Rodrigues Santos MT, Watanabe MM, Manzano FS, Lopes CH, Masiero D
Spec Care Dentist 2007 May-Jun;27(3):108-11. PMID: 17658186
Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA
J Hum Genet 2006;51(11):1030-6. Epub 2006 Sep 6 doi: 10.1007/s10038-006-0049-6. [Epub ahead of print] PMID: 16955230
Spierer A, Desatnik H
Metab Pediatr Syst Ophthalmol 1998;21(1-4):19-21. PMID: 11548790

Prognosis

Pirruccello M, Swan LE, Folta-Stogniew E, De Camilli P
Nat Struct Mol Biol 2011 Jun 12;18(7):789-95. doi: 10.1038/nsmb.2071. [Epub ahead of print] PMID: 21666675Free PMC Article
Draaken M, Giesen CA, Kesselheim AL, Jabs R, Aretz S, Kugaudo M, Chrzanowska KH, Krajewska-Walasek M, Ludwig M
Hum Genet 2011 May;129(5):513-9. Epub 2011 Jan 12 doi: 10.1007/s00439-010-0944-y. [Epub ahead of print] PMID: 21225285
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. [Epub ahead of print] PMID: 16722554Free PMC Article
Cifelli PM, Hargreaves I, Grünewald S
J Inherit Metab Dis 2002 Sep;25(5):411-2. PMID: 12408191
Schneider JF, Boltshauser E, Neuhaus TJ, Rauscher C, Martin E
Neuropediatrics 2001 Feb;32(1):45-8. doi: 10.1055/s-2001-12221. PMID: 11315202

Clinical prediction guides

Pirruccello M, De Camilli P
Trends Biochem Sci 2012 Apr;37(4):134-43. Epub 2012 Feb 28 doi: 10.1016/j.tibs.2012.01.002. [Epub ahead of print] PMID: 22381590Free PMC Article
Pirruccello M, Swan LE, Folta-Stogniew E, De Camilli P
Nat Struct Mol Biol 2011 Jun 12;18(7):789-95. doi: 10.1038/nsmb.2071. [Epub ahead of print] PMID: 21666675Free PMC Article
Draaken M, Giesen CA, Kesselheim AL, Jabs R, Aretz S, Kugaudo M, Chrzanowska KH, Krajewska-Walasek M, Ludwig M
Hum Genet 2011 May;129(5):513-9. Epub 2011 Jan 12 doi: 10.1007/s00439-010-0944-y. [Epub ahead of print] PMID: 21225285
Bothwell SP, Farber LW, Hoagland A, Nussbaum RL
Mamm Genome 2010 Oct;21(9-10):458-66. Epub 2010 Sep 26 doi: 10.1007/s00335-010-9281-7. [Epub ahead of print] PMID: 20872266Free PMC Article
Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M
J Pediatr 2009 Jul;155(1):94-9. doi: 10.1016/j.jpeds.2009.01.049. PMID: 19559295

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