Gene Summary

Name:
tRNA methyltransferase 10A
Synonyms:
3110023L08Rik,  Rg9mtd2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 5.26×10-05
abnormal lens morphology Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 4.97×10-05
decreased body weight Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-08
increased circulating triglyceride level Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 9.58×10-07
increased circulating glycerol level Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 5.38×10-06
increased circulating free fatty acids level Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 7.76×10-06
abnormal behavior Trmt10atm1a(EUCOMM)Wtsi HOM   Early adult 7.56×10-05
increased bone mineral density Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 7.21×10-05
increased circulating magnesium level Trmt10atm1a(EUCOMM)Wtsi HOM Early adult 6.51×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 50% (2 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 62 images

Human diseases caused by Trmt10a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Trmt10a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Small for gestational age, Joint laxity ORPHA:391408

The table below shows human diseases predicted to be associated to Trmt10a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Catarac... OMIM:136300
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Arthrogryposis multiplex congenita, Cataract, Small for gestational age OMIM:212540
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Osteomalacia, Hypophosphatemia OMIM:600740
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Cataract, Truncal obesity OMIM:610156
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Cataract, Hyperuricemia ORPHA:469
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Temple Syndrome
Small for gestational age, Truncal obesity, Hypercholesterolemia, Joint hypermobility, Hypertrigl... OMIM:616222
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... ORPHA:2485
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Decreased movement range in interphalangeal j... OMIM:609115
Nathalie Syndrome
Cataract ORPHA:2663
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hypomagnesemia, Cataract, Hypocalcemia OMIM:175500
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Small for gestational age, Pathologic fracture OMIM:307030
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Developmental cataract, Hypertriglyceridemia OMIM:606721
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hy... ORPHA:398063
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Cataract, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Trichomegaly
Cataract OMIM:190330
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contracture ORPHA:171860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia, Conjunctivitis OMIM:603552
Bardet-Biedl Syndrome 18
Obesity, Cataract OMIM:615995
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cataract, Flexion contracture OMIM:617393
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein AI concentration, C... ORPHA:650
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Mildly elevated creatine k... ORPHA:71212
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia OMIM:244460
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Gitelman Syndrome
Hypokalemia, Primary hyperaldosteronism, Failure to thrive, Gout, Hypomagnesemia, Hypocalcemia, H... ORPHA:358
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Cataract, Hyperalaninemia OMIM:617228
Galactose Mutarotase Deficiency
Failure to thrive, Hypergalactosemia, Cataract ORPHA:570422
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Failure to thrive, Hyperuricemia OMIM:613845
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Small for gestational age, Thickened cortex of long bones, Increased bone... OMIM:127000
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia ORPHA:34527
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Path... OMIM:259700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism ORPHA:199343
Dysbetalipoproteinemia
Corneal arcus, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, ... ORPHA:412
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Decreased body weight, Osteoporosis, Increased bone mineral density OMIM:614856
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract, Flexion contracture OMIM:613154
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Cataract, Hypocalcemia OMIM:146200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hypermethioninemia, Decreased HDL cholester... ORPHA:247598
Kahrizi Syndrome
Knee flexion contracture, Cataract, Elbow flexion contracture, Iris coloboma OMIM:612713
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Small for gestational age, Increased serum prostaglandin E2, Failure ... OMIM:601678
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... OMIM:239000
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... ORPHA:53
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Hypertriglyceridemia, Flexion contracture OMIM:615381
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hypomagnesemia, Abnormal circulating biopterin conc... ORPHA:1578
Martsolf Syndrome 2
Developmental cataract, Cataract, Camptodactyly of finger, Camptodactyly, Decreased body weight OMIM:619420
Congenital Generalized Lipodystrophy
Bone cyst, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia OMIM:617885
Hypomagnesemia 3, Renal
Hypomagnesemia, Astigmatism, Failure to thrive, Hyperuricemia OMIM:248250
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Hypophosphatemia, Osteopenia, Hypertriglyceridemia ORPHA:2088
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Osteoporosis, Hyperlipidemia, Osteopenia ORPHA:369
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Cataract, Reduced bone mineral density ORPHA:2410
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Galactokinase Deficiency
Nuclear cataract, Hypergalactosemia, Small for gestational age, Failure to thrive, Hypercholester... ORPHA:79237
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract OMIM:600886
Griscelli Syndrome Type 1
Iris hypopigmentation, Hyperlipidemia ORPHA:79476
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Peroxisome Biogenesis Disorder 9B
Cataract, Elevated levels of phytanic acid OMIM:614879
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Cataract, Delayed patellar ossification ORPHA:163649
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:612780
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Galactose Epimerase Deficiency
Weight loss, Cataract ORPHA:79238
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia, Astigmatism OMIM:248190
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Iris coloboma, Cataract, Abnormal cornea morphology ORPHA:2611
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia ORPHA:428
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Small for gestational age, Increased serum prostaglandin E2, Failure to thrive, Hypo... OMIM:241200
Alstrom Syndrome
Decreased HDL cholesterol concentration, Truncal obesity, Hyperuricemia, Hyperostosis frontalis i... OMIM:203800
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Joint stiffness, Obesit... ORPHA:819
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Cataract, Truncal obesity OMIM:268050
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Arthritis, Hypertriglyceridemia, Flexion contracture, Conjunctivitis OMIM:617591
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Leber Congenital Amaurosis 1
Keratoconus, Hyperthreoninemia, Cataract OMIM:204000
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hemochromatosis, Type 4
Elevated transferrin saturation, Osteoarthritis, Cataract, Increased circulating ferritin concent... OMIM:606069
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Failure to thrive, Knee osteoarthritis, Abnormal epiphyseal ossification, Loc... ORPHA:93284
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cataract OMIM:615352
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Ectopic ossification, Cataract, Increased... ORPHA:79444
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Osteoporosis, Reduced bone mineral density, H... ORPHA:261476
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis, Osteopenia, ... OMIM:613327
Majeed Syndrome
Cachexia, Synovitis, Failure to thrive, Increased susceptibility to fractures, Weight loss, Osteo... ORPHA:77297
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Presenile cataracts, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long ... OMIM:112250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Microtriplication 11Q24.1
Obesity, Limitation of joint mobility, Keratoconus, Hyperlipidemia ORPHA:289522
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Osteomyelitis, ... ORPHA:37042
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Small for gestational age, Failure to thrive, Hypochloremia, Hypomagne... ORPHA:89938
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... ORPHA:79102
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Ectopic ossification, Reduced bone minera... ORPHA:79443
Pearson Syndrome
Hypokalemia, Corneal stromal edema, Small for gestational age, Hypophosphatemia, Hyperalaninemia,... ORPHA:699
Stiff Skin Syndrome
Limited shoulder movement, Knee flexion contracture, Cataract, Camptodactyly, Elbow flexion contr... OMIM:184900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Failure to thri... OMIM:278000
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Absent vertebral body mineral... ORPHA:93296
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Failure to thrive OMIM:263800
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Juvenile rheumatoid arthritis, Hypertriglyceridemia... ORPHA:158061
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Cataract, Fa... ORPHA:2780
Cataract 47
Microcornea, Cataract OMIM:612018
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Cataract, Delayed ossification of carpal bones OMIM:127200
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Hypertriglyceridemia, Decreased body weight, Increased circula... ORPHA:444490
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Obesity Due To Congenital Leptin Deficiency
Obesity, Hypertriglyceridemia ORPHA:66628
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis, Hypercholest... ORPHA:264580
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hypertriglyceridemia ORPHA:179494
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Neutral Lipid Storage Disease With Ichthyosis
Subcapsular cataract, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Galactosemia I
Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood cells, Cataract,... OMIM:230400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypercholesterolemia, Hypertrig... ORPHA:79240
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Oligoarticular Juvenile Idiopathic Arthritis
Failure to thrive, Oligoarthritis, Anterior chamber synechiae, Knee osteoarthritis, Joint hypermo... ORPHA:85410
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Cataract, Hypoalbuminemia OMIM:618805
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Corneal opacity, Hypocalcemia, Astigmatism, Hyperphosphatemia ORPHA:2323
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Osteoporosis, Cataract, Obesity, Hyperphosphatemia OMIM:612462
Rhizomelic Chondrodysplasia Punctata, Type 2
Failure to thrive, Cataract, Flexion contracture, Osteopenia OMIM:222765
Pseudopseudohypoparathyroidism
Obesity, Osteoporosis, Cataract OMIM:612463
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Cataract OMIM:615704
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Obesity, Craniosynostosis, Osteopenia, Joint hypermobility, Hypertriglyceridemia, ... ORPHA:369837
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Cataract, Small for gestational age OMIM:615095
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Hyperalaninemia,... OMIM:615418
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Failure to thrive, Abnormal vertebral segmentation and fusion, Synostosis of c... ORPHA:90652
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Retinitis Pigmentosa 84
Cataract OMIM:618220
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Hyperlipidemia ORPHA:2089
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
H Syndrome
Corneal arcus, Hypertriglyceridemia, Camptodactyly, Recurrent fractures, Osteolysis ORPHA:168569
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Osteoporosis, Cataract, Obesity, Hyperphosphatemia OMIM:103580
Schwartz-Jampel Syndrome
Cachexia, Shoulder flexion contracture, Flexion contracture of toe, Hip contracture, Ectopia lent... ORPHA:800
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, F... ORPHA:370
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Failure to thrive, Hypercholesterolemia, Cataract, Hyper... OMIM:118450
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Werner Syndrome
Slender build, Osteoporosis, Increased bone mineral density, Cataract, Joint stiffness ORPHA:902
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Congenital Tufting Enteropathy
Corneal erosion, Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Steatorrhea, Cata... ORPHA:92050
Proximal Myotonic Myopathy
Cataract ORPHA:606
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia, Unicameral bone cyst ORPHA:79086
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Gaisböck Syndrome
Hyperproteinemia, Obesity, Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Overw... ORPHA:90041
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Classical-Like Ehlers-Danlos Syndrome Type 2
Keratoconjunctivitis sicca, Osteopenia, Joint hypermobility, Hypertriglyceridemia, Astigmatism ORPHA:536532
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ... ORPHA:90153
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... ORPHA:86816
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... ORPHA:275761
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Failure to thrive, Increased susceptibility to fractures, Osteoporosis, Gout, Hyp... ORPHA:79259
Dystonia, Juvenile-Onset
Cataract, Small for gestational age OMIM:607371
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Aniridia 2
Aniridia, Cataract OMIM:617141
Trichothiodystrophy
Keratoconjunctivitis sicca, Developmental cataract, Craniosynostosis, Osteopenia, Increased bone ... ORPHA:33364
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Cataract ORPHA:414
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Slender build, Diaphyseal sclerosis, Increased bone m... OMIM:131300
Griscelli Syndrome Type 2
Iris hypopigmentation, Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Reduced bone mineral density ORPHA:1414
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Isolated Ectopia Lentis
Joint stiffness, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Desmosterolosis
Abnormal circulating cholesterol concentration, Failure to thrive, Generalized osteosclerosis, Ar... OMIM:602398
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges... ORPHA:280365
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Hypophosphatemia, ... ORPHA:89936
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Cataract OMIM:601811
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Gaucher Disease
Osteoarthritis, Abnormal bone structure, Arthrogryposis multiplex congenita, Osteopenia, Osteomye... ORPHA:355
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Desmosterolosis
Failure to thrive, Osteopetrosis, Increased bone mineral density ORPHA:35107
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cataract OMIM:601794
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Cataract, Osteopenia OMIM:617913
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Increased circulating cortisol level, Cataract ORPHA:3453
Raine Syndrome
Arthrogryposis multiplex congenita, Hypophosphatemia, Increased bone mineral density OMIM:259775
Erdheim-Chester Disease
Weight loss, Osteomyelitis, Xanthelasma, Increased bone mineral density, Osteolysis ORPHA:35687
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Atypical Werner Syndrome
Developmental cataract, Failure to thrive, Osteoporosis, Sclerosis of hand bone, Reduced bone min... ORPHA:79474
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... ORPHA:77293
Poems Syndrome
Weight loss, Sclerosis of skull base, Sclerosis of foot bone, Sclerosis of hand bone ORPHA:2905
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Joint hypermobility, Failure to thrive in infancy, Hypertriglyceridemia, Failure to thrive OMIM:619418
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Flexion contracture of toe, Failure to thrive, Hypertrig... OMIM:256040
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Increased circulating ferritin concentration, Iris hypopigmentatio... ORPHA:167
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Increased circulating cortisol level, Osteoporosis, Increased susceptibility to f... ORPHA:189427
Aromatase Deficiency
Hyperlipidemia, Osteoporosis, Delayed epiphyseal ossification, Eunuchoid habitus, Osteopenia, Obe... ORPHA:91
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Cerebrotendinous Xanthomatosis
Xanthelasma, Osteoporosis, Cataract, Abnormal circulating cholesterol concentration OMIM:213700
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density, Cataract ORPHA:50945
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Arthrogryposis multiplex congenita, Knee flexion contracture,... OMIM:619503
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Elevated hemoglobin A1c, Hypertriglyceridemia, Flexion contracture, Joint stiffness, ... OMIM:619127
Dent Disease
Thin bony cortex, Rickets, Elevated circulating creatine kinase concentration, Delayed epiphyseal... ORPHA:1652
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Small for gestational age, Hypertriglyceri... OMIM:619573
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Increased susceptibility to fractures, Increased circulating cortisol level, Oste... ORPHA:189439
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysi... ORPHA:90154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysi... OMIM:248370
Williams Syndrome
Blue irides, Hypercalcemia, Failure to thrive in infancy, Flat cornea, Posterior embryotoxon, Abn... ORPHA:904
Primary Hyperoxaluria
Failure to thrive, Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria ORPHA:416
19P13.12 Microdeletion Syndrome
Obesity, Craniosynostosis, Arthrogryposis multiplex congenita, Hyperlipidemia ORPHA:254346
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cystic angiomatosis of bone OMIM:608594
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Corneal opacity, Small for gestational age, Hyperlipidemia ORPHA:1830
Osteoporosis-Pseudoglioma Syndrome
Absent anterior chamber of the eye, Increased susceptibility to fractures, Osteoporosis, Patholog... OMIM:259770
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Xanthelasma OMIM:232200
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cystic angiomatosis of bone OMIM:269700
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Knee flexion contracture, Epiphyseal stippling OMIM:118650
Glycogen Storage Disease Ib
Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Xanthelasma OMIM:232220
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Failure to thrive, Cataract, Anterior lenticonus OMIM:308940
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis ORPHA:77261
Wiedemann-Rautenstrauch Syndrome
Synovitis, Failure to thrive, Slender build, Osteopenia, Joint hypermobility, Corneal opacity, Ca... ORPHA:3455
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Small for gestation... ORPHA:567983
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Hypertriglyceridemia, Flexion contracture OMIM:264090
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... ORPHA:667
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Failure to thrive, Osteopetrosis, Hypocalcemi... ORPHA:2785
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:157
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Proximal Renal Tubular Acidosis
Hypokalemia, Failure to thrive, Hyperuricosuria, Reduced bone mineral density, Cataract, Band ker... ORPHA:47159
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Steatorrhea, Cataract, Keratoconjunctivitis OMIM:269200
Fabry Disease
Hyperlipidemia, Abnormal circulating lipid concentration, Conjunctival telangiectasia, Corneal dy... ORPHA:324
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:228308
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Craniosynostosis, Cataract OMIM:608279
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Posterior corti... ORPHA:67036
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Glycogen Storage Disease Ic
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia OMIM:232240
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones, Failure... OMIM:269150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612