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Gene: Atp6v1h MGI:1914864

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Gene Summary

Name:
ATPase, H+ transporting, lysosomal V1 subunit H
Synonyms:
0710001F19Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance Atp6v1hem1(IMPC)Bay HOM   Early adult 0.00
abnormal retina vasculature morphology Atp6v1hem1(IMPC)Bay HET Early adult 4.90×10-05
embryonic lethality prior to organogenesis Atp6v1hem1(IMPC)Bay HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Human diseases caused by Atp6v1h 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp6v1h by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration OMIM:619073
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen... OMIM:193100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hyp... ORPHA:89937
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Osteoporosis
Osteoporosis OMIM:166710
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Elevated circulating alkaline phosphatase c... OMIM:615198
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst ORPHA:2668
Paget Disease Of Bone 4
Osteolysis, Elevated circulating alkaline phosphatase concentration OMIM:606263
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Isolated Glycerol Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:408
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia OMIM:610947
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Elevated circulat... OMIM:600081
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612286
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Progressive Familial Intrahepatic Cholestasis
Jaundice, Reduced bone mineral density, Hypocalcemia, Splenomegaly ORPHA:172
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hypermobility ORPHA:2787
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Increas... ORPHA:79230
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Joint hypermobility, Elevated circ... OMIM:614727
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Eleva... OMIM:241530
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypo... OMIM:134600
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis OMIM:228600
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste... OMIM:602080
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets OMIM:612089
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Elevated circulat... OMIM:264700
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile ac... OMIM:619256
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal te... OMIM:615923
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Osteolysis, Elevated circulating alkaline phosphatase conc... OMIM:174810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Rickets, Elevated circulat... OMIM:616026
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Hypocal... ORPHA:289157
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ... ORPHA:100024
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Elevated circulating alkalin... OMIM:307800
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Elevated ... OMIM:620366
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:277440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Elevated circulating alkaline phosphatase concentration, Subperi... OMIM:211900
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... OMIM:617994
Infantile Myofibromatosis
Limitation of joint mobility, Hypercalcemia, Bone cyst, Osteolysis ORPHA:2591
Oncogenic Osteomalacia
Pathologic fracture, Increased susceptibility to fractures, Fibrous dysplasia of the bones, Eleva... ORPHA:352540
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Hypophosphatasia
Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Pathologic fracture, Hip contracture, Elevated circulating alkaline phosphatase conce... OMIM:156400
Hypophosphatasia, Childhood
Low alkaline phosphatase, Craniosynostosis, Elevated plasma pyrophosphate OMIM:241510
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Elevated circulating ... OMIM:122860
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Rickets, Osteom... OMIM:227810
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Jaundice, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:79301
Fanconi-Bickel Syndrome
Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati... ORPHA:2088
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Increased susceptibility to fractures... OMIM:241500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Ele... OMIM:600785
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Low alkaline p... OMIM:146300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil... ORPHA:210110
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia ORPHA:369
Hyperzincemia With Functional Zinc Depletion
Osteoporosis, Increased serum zinc OMIM:601979
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures, Elevated circulating alkaline phosphatase concentr... OMIM:126550
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Osteoporosis, Recurren... ORPHA:2801
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho... OMIM:167250
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Paget disease of bone, Elevated circulating alkaline phosphatase concentration, Elevated circulat... OMIM:615422
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat... ORPHA:668
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Elevated circulating alkaline phosphatase concentratio... OMIM:606631
Cystinosis
Hypokalemia, Hypophosphatemia, Portal hypertension, Rickets ORPHA:213
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint hypermobility OMIM:616033
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Elevated circul... OMIM:616809
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Prieto Syndrome
Osteoporosis OMIM:309610
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Dent Disease 2
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... OMIM:300555
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Osteomyelitis, Pa... OMIM:259700
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Osteoporosis, Eosinophilia OMIM:620532
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Decreased liver function, Pathologic fracture, Increased proportio... ORPHA:98850
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem... OMIM:127000
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Splenomegaly, Inc... ORPHA:29073
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Recurrent fractures, Elevated circulating alkaline phosphatase con... OMIM:239000
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Generalized... ORPHA:53
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:614880
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
X-Linked Hypophosphatemia
Rickets, Limitation of joint mobility, Elevated circulating alkaline phosphatase concentration, G... ORPHA:89936
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot... OMIM:619658
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Thin bony cortex, Multiple prenatal fractures, Abnormal c... OMIM:619795
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones OMIM:617974
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Perrault Syndrome 1
Osteoporosis OMIM:233400
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia OMIM:103580
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Decreased liver function, Extramedullary hematopoies... ORPHA:231222
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia ORPHA:94086
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee... OMIM:259450
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hepatitis, Hyperuricemia, Macrocytic anemia, Hyponatremia, Eosinophilia, Gener... ORPHA:199299
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
Tyrosinemia Type 1
Acute hepatic failure, Rickets of the lower limbs, Splenomegaly ORPHA:882
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... OMIM:257200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Elevated circulating alanine aminotransf... OMIM:615381
Mccune-Albright Syndrome
Bone marrow hypocellularity, Aneurysmal bone cyst, Hepatitis, Osteomalacia, Monostotic fibrous dy... ORPHA:562
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration OMIM:613312
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Finger joint contracture, Flexion contracture of toe ORPHA:48431
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Symmetric polyarthritis, Synovitis, Arthritis, Elevated... ORPHA:85435
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Osteoporosis, Generalized osteoporosis, Recurrent fractu... OMIM:613849
Bruck Syndrome
Osteoporosis, Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures ORPHA:2771
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c, Elevated ... OMIM:277700
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Elevated c... ORPHA:77259
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint hypermobility ORPHA:2788
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal circulating en... ORPHA:79239
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe... ORPHA:1652
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Recurr... ORPHA:251004
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Propionic Acidemia
Pancytopenia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyperammonemia, Neutropenia,... OMIM:606054
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Abnormal circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamina... ORPHA:284426
Hall-Riggs Syndrome
Osteoporosis OMIM:234250
Menkes Disease
Osteoporosis, Decreased circulating ceruloplasmin concentration, Joint hypermobility OMIM:309400
Mycetoma
Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Osteoporosis, Bone cyst, Ab... ORPHA:2583
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Paget disease of bone, Elevated alkaline phosphatase of bone origin, Elevated circulating creatin... OMIM:167320
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Elevated circulating alkaline phospha... ORPHA:52430
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones OMIM:618392
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Dietary Iron Overload Disease
Hepatitis, Increased circulating ferritin concentration, Elevated hepatic iron concentration, Ost... ORPHA:139507
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Knee osteoarthritis, ... ORPHA:2848
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Joint hypermobility ORPHA:1515
Congenital Disorder Of Glycosylation, Type Iiy
Reduced bone mineral density OMIM:620200
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Hypocholesterolemia, Elevated circulating phytanic acid concentration OMIM:266510
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly, Intrahepatic cholestasis with episodic jaundice, Jaundice, Con... OMIM:211600
Ollier Disease
Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple enchondromatosis, Osteolysis ORPHA:296
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Abnormality of alkaline phosphatase level, Elevated circulating aspartate aminotransferase concen... OMIM:620375
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Limitation of joint mobility, Osteoarthritis, Synostosis of carpal bones ORPHA:93351
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex... ORPHA:3409
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Progressive cervical vertebral spine fusion, Ectopic oss... OMIM:135100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hem... OMIM:611590
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Lathosterolosis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating lathoste... OMIM:607330
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Osteoporosis, Elevated tissue non-specific alkaline ... ORPHA:785
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Limitation of joint mobility, Reduced cystathionine beta-synthase activity in... OMIM:236200
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased circulating lactate dehydrogenase concentration... ORPHA:232
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets ORPHA:411629
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteopor... OMIM:208230
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leukocytosis, Sple... ORPHA:457077
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Decreased circulating IgA level, Joint hypermobility, Low alkaline phosphatase, Hyper... ORPHA:369837
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Raine Syndrome
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Subperiosteal bone for... OMIM:259775
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Elevated total serum tryptase, Increased blood urea nitr... ORPHA:94059
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density ORPHA:2501
Congenital Disorder Of Glycosylation, Type Ir
Osteopenia, Decreased liver function OMIM:614507
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia, Recurrent fractures OMIM:239200
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Xp21 Deletion Syndrome
Joint hypermobility, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Os... ORPHA:261476
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Joint stiffness, P... ORPHA:465508
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Cystic Echinococcosis
Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated circulating hepatic transa... ORPHA:400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Immunodeficiency 12
Osteoporosis, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:615468
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Knee flexion contracture, Camptodactyly... OMIM:214150
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Rickets, Decreased circulating IgA level... OMIM:212750
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Hypomethioninemia, Macrocytic anemia, Hyperhomoc... ORPHA:2169
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Beta-Thalassemia
Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnorm... ORPHA:848
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... ORPHA:3337
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density ORPHA:577
Osteogenesis Imperfecta, Type Xi
Osteopenia, Increased susceptibility to fractures, Elevated circulating alkaline phosphatase conc... OMIM:610968
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hype... OMIM:601678
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Hypocalcemia, Splenomegaly ORPHA:100025
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Abnormality of alkaline phosphatase level, Ivory epiphyses of the distal phalanges of... OMIM:190350
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Splenomegaly, Hypophosphatemia, Osteopetrosis, Anemia, Craniosynostosis, Reduced bo... ORPHA:667
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hy... OMIM:620210
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Hypercalcemia ORPHA:99880
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Recurrent fractures OMIM:620639
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint hemorrhage, Osteolysis ORPHA:66627
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Leukocytosis, ... ORPHA:98849
Addison Disease
Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, General... ORPHA:85138
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating hepatic transaminase concentration, Decreased circulating IgA le... OMIM:613327
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Hypercalcemia ORPHA:143
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia ORPHA:428
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Oculoskeletodental Syndrome
Elbow flexion contracture, Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Spondylo-Ocular Syndrome
Osteoporosis, Joint hypermobility ORPHA:85194
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification OMIM:602361
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Joint hypermobility, Limitation of knee mobility, Osteoporosis, R... OMIM:614856
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... ORPHA:371428
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration OMIM:618879
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Shoulder flexion contracture, Hip contracture, Elevated circulatin... OMIM:255800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Elevated c... OMIM:214900
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:79240
Primary Biliary Cholangitis
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Abnormal c... ORPHA:186
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Rhyns Syndrome
Osteoporosis, Osteopenia OMIM:602152
Geroderma Osteodysplastica
Osteoporosis, Recurrent fractures, Abnormal bone ossification, Joint hypermobility ORPHA:2078
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Spondyloepiphyseal Dysplasia, Maroteaux Type
Generalized osteoporosis, Small joint hypermobilty OMIM:184095
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Abnormality of alkaline phosphatase level, Hypertriglyceridemia OMIM:618010
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:264580
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Lysinuric Protein Intolerance
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, I... ORPHA:470
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Osteogenesis Imperfecta, Type Iii
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Severe generalized o... OMIM:259420
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ... ORPHA:231226
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbil... OMIM:259720
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Wide anterior fontanel, Elevated circulating alkaline phosph... OMIM:269300
Cholesteryl Ester Storage Disease
Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity... OMIM:278000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures, Elevated circulating alkaline phosphatase concentration OMIM:616833
Odontochondrodysplasia 1
Osteoporosis, Delayed ossification of carpal bones, Joint hypermobility OMIM:184260
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Arthri... OMIM:259100
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Increased total bilirubin OMIM:174050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Anemia, Calvarial osteoscle... ORPHA:93325
X-Linked Agammaglobulinemia
Hepatitis, Osteomyelitis, Hypocalcemia, Agammaglobulinemia, Arthritis, Neutropenia, Anemia, Throm... ORPHA:47
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Reduced hepatic glucose-6-phosphate tran... OMIM:232220
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Elevated circulating hepatic transaminase concentr... ORPHA:263455
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Nasu-Hakola Disease
Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Bone cyst ORPHA:2770
Congenital Myopathy 22A, Classic
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... OMIM:620351
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased li... OMIM:617093
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis OMIM:612562
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Genetic Recurrent Myoglobinuria
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased circulating... ORPHA:99845
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased LDL cholester... OMIM:616828
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Joint hypermobility, Cervical C2/C3 vertebral fusion, Generalized joint hypermobility... OMIM:618000
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Gout, Hyperuricemia, Ost... OMIM:232200
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis OMIM:616200
Cantu Syndrome
Osteoporosis OMIM:239850
Perrault Syndrome 4
Osteoporosis OMIM:615300
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytop... OMIM:613989
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Portal hypertension, Splenomegaly, Jaundice, Reduced bone mineral density ORPHA:1414
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... OMIM:615424
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis OMIM:219090
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture OMIM:615851
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Beta-Thalassemia Major
Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ... ORPHA:231214
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79444
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteoporosis, Osteopenia, Bicoronal synostosis, Joint hypermobility OMIM:619718
Osteogenesis Imperfecta, Type Xvii
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:616507
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
Hereditary Fructose Intolerance
Hypermagnesemia, Reduced circulating aldolase concentration, Hyperuricemia, Chronic hepatic failu... ORPHA:469
Desbuquois Dysplasia 1
Joint hypermobility, Osteoarthritis, Advanced ossification of carpal bones, Osteoporosis, Advance... OMIM:251450
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Hypophosphatemic rickets,... OMIM:219800
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae OMIM:156510
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... OMIM:222700
Geroderma Osteodysplasticum
Osteopenia, Increased susceptibility to fractures, Camptodactyly, Osteoporosis, Recurrent fractur... OMIM:231070
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic an... OMIM:613990
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Leukocytos... ORPHA:247353
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat... ORPHA:90362
Farber Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Abn... ORPHA:333
Mucolipidosis Type Iii Alpha/Beta
Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis ORPHA:423461
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Por... OMIM:619487
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hepatic failure, Osteomalacia, Acute hepatic failure, Elevated cir... OMIM:277900
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder OMIM:254700
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Abnormal platelet fun... ORPHA:79443
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Osteoporosis OMIM:224230
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteoporosis, Osteopenia, Flexion contracture, Elbow flexion contracture OMIM:614438
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Art... ORPHA:2796
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis OMIM:617190
Nestor-Guillermo Progeria Syndrome
Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Osteoporosis... OMIM:614008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Osteoporosis OMIM:615398
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Lowry-Maclean Syndrome
Osteoporosis, Osteopenia, Craniosynostosis ORPHA:2409
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Osteoporosis, Laryngotracheomalacia, Reduced bone mineral density, Abnorm... ORPHA:94068
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased LDL cholesterol concentration, Hyperbilirubin... ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:619484
Mucopolysaccharidosis, Type Ivb
Joint hypermobility, Osteoporosis, Joint stiffness, Decreased beta-galactosidase activity OMIM:253010
Osteogenesis Imperfecta, Type Vi
Increased susceptibility to fractures, Elevated circulating alkaline phosphatase concentration, J... OMIM:613982
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:91
Cerebrotendinous Xanthomatosis
Osteoporosis, Abnormal circulating cholesterol concentration OMIM:213700
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:171
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Elevated circulating... OMIM:612852
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased... OMIM:605814
Hepatoerythropoietic Porphyria
Osteopenia, Erythroid hyperplasia, Abnormal circulating enzyme concentration or activity, Abnorma... ORPHA:95159
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased circulating... ORPHA:94093
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia ORPHA:91348
Pearson Syndrome
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... ORPHA:699
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating... ORPHA:263501
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Rickets, De... OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint contracture of the hand, Limitation of joint mobility, Camptodactyly, Generalized osteoporo... ORPHA:1159
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Hy... ORPHA:39812
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:309031
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia, Anemia, Hypophosph... ORPHA:534
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Multiple ... ORPHA:2959
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin... ORPHA:95409
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Joint stiffness, Hyperlipoproteinemia, Flexion contract... ORPHA:1979
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia ORPHA:2326
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Osteopenia, Camptodactyly, Generalized joint hypermobility ORPHA:432
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:614576
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hepatosplenomegal... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619662
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology OMIM:215250
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand OMIM:226980
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Elbow flexion contracture, Abnormal circulating enzyme concentration or activity, Gen... ORPHA:1900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture OMIM:620232
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Elevated circulating... OMIM:618162
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Epiphyseal stippling, Hyperphosphatemia, Calvarial hyperostosis OMIM:101800
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentration, ... ORPHA:77293
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... OMIM:248250
Glycerol Kinase Deficiency
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia, Reduced glycerol kina... OMIM:307030
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint hypermobility OMIM:253000
Monosomy 13Q34
Hypercalcemia ORPHA:96168
X Small Rings
Osteoporosis, Reduced bone mineral density, Joint hypermobility ORPHA:96201
Brittle Cornea Syndrome
Camptodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility ORPHA:90354
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Increased susceptibility to fractur... OMIM:612199
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Elevated circulating alkaline phosphatase concentration, Joint hypermobility OMIM:618590
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Splenic cyst, Elevated circulating alkaline phosphatase concentration,... OMIM:618188
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:619115
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Osteoporosis, Hyperkalemia, Reduced... ORPHA:168558
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Hyperlipidemia, Increased susceptibility to fractures ORPHA:189427
Congenital Erythropoietic Porphyria
Osteopenia, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Abnormal circulat... ORPHA:79277
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:614866
Macs Syndrome
Osteoporosis, Joint hypermobility OMIM:613075
Nail-Patella Syndrome
Proximal finger joint hyperextensibility, Elbow flexion contracture, Contracture of the distal in... ORPHA:2614
Eiken Syndrome
Delayed epiphyseal ossification, Delayed tarsal ossification, Delayed ossification of carpal bone... OMIM:600002
Craniofaciofrontodigital Syndrome
Osteoporosis, Osteopenia, Finger joint hypermobility, Joint hypermobility ORPHA:363705
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Osteopenia, Abnormal circulating enzyme concentration or a... ORPHA:79259
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Osteoporosis, Hyperkalemia, Reduced... ORPHA:289548
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem... ORPHA:37042
Cleidocranial Dysplasia
Spina bifida occulta, Osteoporosis, Recurrent fractures, Decreased skull ossification ORPHA:1452
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Abnorm... ORPHA:1451
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Sarcoidosis
Hepatic failure, Decreased liver function, Hemolytic anemia, Leukopenia, Portal hypertension, Bon... ORPHA:797
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Jaundice, Conjugated hyperbilirubinemia, Elevated circulating alkaline ... OMIM:605479
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Elevated... OMIM:613095
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Thin bony cortex, Hyperextensibility of the finger joints OMIM:309583
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Elbow flexion contracture, Joint hypermobility, Radioulnar ... OMIM:245600
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Osteomyelitis, Hypocal... ORPHA:36234
Post-Traumatic Pituitary Deficiency
Osteopenia, Osteoporosis of vertebrae ORPHA:95619
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Reduced bone mineral density, Recurrent fractures ORPHA:137608
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn... ORPHA:3206
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Reduced bone mineral density ORPHA:2983
Occipital Horn Syndrome
Limited elbow extension, Joint hypermobility, Limited knee extension, Capitate-hamate fusion, Ost... OMIM:304150
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Reduced bone mineral density, Rec... OMIM:112240
Adrenomyodystrophy
Reduced bone mineral density ORPHA:977
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal bon... ORPHA:86822
Bile Acid Synthesis Defect, Congenital, 3
Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransfe... OMIM:613812
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Increased susceptibility to fractures, Reduced bone mineral density, Osteolysis ORPHA:652
46,Xx Gonadal Dysgenesis
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density ORPHA:243
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Osteoporosis, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:300998
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:601847
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Reduced bone mineral density, Joint hypermobility ORPHA:1185
Cantú Syndrome
Osteoporosis ORPHA:1517
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Abnormal circulating enzyme concentration or activity,... ORPHA:2785
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Opsismodysplasia
Hypophosphatemia OMIM:258480
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Joint stiffness, Elevated circulating hepatic transaminase concentration, Recurrent... ORPHA:394
Cartilage-Hair Hypoplasia
Limited elbow extension, Hypocalcemia, Joint hypermobility, Abnormal bone ossification, Neutropen... ORPHA:175
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia OMIM:620365
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Anemia, Prolonged neonatal jaundice, Reduce... OMIM:619377
Dyskeratosis Congenita
Bone marrow hypocellularity, Hepatic failure, Coarse metaphyseal trabecularization, Splenomegaly,... ORPHA:1775
Glycogen Storage Disease Due To Acid Maltase Deficiency
Increased circulating lactate dehydrogenase concentration, Abnormal circulating enzyme concentrat... ORPHA:365
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Vascular Malformation, Primary Intraosseous
Hypochromic anemia, Elevated circulating alkaline phosphatase concentration OMIM:606893
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398079
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Elevated circulating creatine kin... ORPHA:800
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Joint contracture, Osteoporosis, Osteolytic defects of the distal ... OMIM:601812
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hyperuricemia, Reduc... OMIM:229600
Vipoma
Intrahepatic cholestasis, Intermittent jaundice, Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:254892
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... OMIM:176270
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Tracheomalacia, Acute h... OMIM:203700
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Elevated circulating alkaline phosphatase concentration, Left unicoronal synostosis OMIM:614749
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Abnormal circulating lipid concentration ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, E... OMIM:620454
Frank-Ter Haar Syndrome
Osteopenia, Cortical irregularity, Camptodactyly, Osteoporosis, Wide anterior fontanel OMIM:249420
Congenital Disorder Of Deglycosylation 1
Osteoporosis, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Elevated ... OMIM:615273
Stuve-Wiedemann Syndrome 1
Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thickened cortex of lon... OMIM:601559
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Joint stiffness, Elev... ORPHA:904
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Hepatitis, Osteomalacia, Joint hypermobility, Osteopor... ORPHA:198
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Cranioectodermal Dysplasia 1
Hepatic failure, Hypocalcemia, Joint hypermobility, Sagittal craniosynostosis, Osteoporosis OMIM:218330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Abnormal circulating selenium concentration, Foot joint contracture, Iron deficiency ... ORPHA:79408
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia, Flexion contracture ORPHA:398069
Prolactinoma
Osteoporosis, Osteopenia ORPHA:2965
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Delayed ossification of carpal bones, Elevated circulating alkaline phosphatase concentration OMIM:239300
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Joint hypermobility, Oste... OMIM:259770
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocyto... ORPHA:391487
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Increased susceptibility to fra... ORPHA:2909
Somatostatinoma
Intrahepatic cholestasis, Hypercalcemia, Hypochromic microcytic anemia, Intermittent jaundice ORPHA:97283
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Impaired T cell function, Splenomegaly, Decreased serum zinc OMIM:201100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tracheomalacia, Multiple joint contractures, Joint hypermobility, Radioulnar synostos... ORPHA:536467
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase, Elevated circulating creatine kinase concentration ORPHA:314389
Glass Syndrome
Camptodactyly, Generalized osteoporosis OMIM:612313
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger ORPHA:2232
Glucagonoma
Intrahepatic cholestasis, Acanthocytosis, Intermittent jaundice, Hypercalcemia, Normochromic anemia ORPHA:97280
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Osteopenia ORPHA:98754
Ppoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97278
Williams-Beuren Syndrome
Osteopenia, Portal hypertension, Joint hypermobility, Radioulnar synostosis, Osteoporosis, Flexio... OMIM:194050
Prader-Willi Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:739
Hajdu-Cheney Syndrome
Osteopenia, Coarse metaphyseal trabecularization, Recurrent fractures, Splenomegaly, Decreased sk... ORPHA:955
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Pathologic fracture, Joint hypermobility, Osteolytic defects of ... OMIM:102500
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Osteopenia ORPHA:98793
Menkes Disease
Osteomyelitis, Joint hypermobility, Prolonged neonatal jaundice, Osteoporosis, Tarsal synostosis,... ORPHA:565
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating total IgG, Hepatitis, O... OMIM:619381
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated ... ORPHA:67
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Osteopenia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Osteopenia ORPHA:177901
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractures, Hypokalemia, Redu... ORPHA:18
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Joint hypermobility ORPHA:653
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Elevated circulating... OMIM:620005
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hardikar Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:301068
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607143
Cystic Fibrosis
Osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration ORPHA:586
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Grfoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97261
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:275761
Timothy Syndrome
Hypocalcemia OMIM:601005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal circulating enzyme concentration or activity, Increased susceptibility to fr... ORPHA:909
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal hypertension, Leukocyt... ORPHA:53035
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Decreased circ... OMIM:618183
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Osteopenia, Joint hypermobility OMIM:225400
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated circulating... ORPHA:69665
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Increased circulating l... OMIM:309000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hepatic failure, Hypoproteinemia, Hypocalcemia OMIM:235255
Hennekam Syndrome
Camptodactyly of finger, Lymphopenia, Hypocalcemia, Splenomegaly, Craniosynostosis, Decreased cir... ORPHA:2136
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Synostosis... ORPHA:221016
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density ORPHA:935
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia ORPHA:913
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, C... ORPHA:221008
Dpagt1-Cdg
Elevated circulating hepatic transaminase concentration, Anemia, Camptodactyly, Osteoporosis, Fle... ORPHA:86309
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Pathologic fracture, Joint hypermobility, Delayed proximal femoral epiphyseal ... OMIM:271640
X-Linked Intellectual Disability, Snyder Type
Camptodactyly, Osteoporosis, Recurrent fractures ORPHA:3063
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Osteopenia, Hypokalemia ORPHA:91347
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Elevated circulating alkaline phosphatase concentration, In... ORPHA:85443
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Intervertebral disk degeneration, Osteolyti... ORPHA:79474
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:562639
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:30391
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia, Abnormality of cartilage of external ear ORPHA:3426
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Sotos Syndrome
Ankle flexion contracture, Hip contracture, Joint hypermobility, Bilateral camptodactyly, Prolong... ORPHA:821
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Elevated circulating alkaline phosphatase concentration, Joint hyper... OMIM:618143
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Elbow flexion contracture, Multiple joint contractures, Increased susceptibility to f... ORPHA:536471
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Elevated gamma-glutamyltransferase level, Elevated circulating creatinine conc... ORPHA:247691
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:90796
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteoporosis, Osteopenia, Joint hypermobility ORPHA:536545
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:305000
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Abnormal cortical bone morphology, Increased susceptibil... ORPHA:666
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Osteoporosis, Abnormal blood ion concentration ORPHA:79404
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Exercise-Induced Malignant Hyperthermia
Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ... ORPHA:466650
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Cockayne Syndrome B
Osteoporosis, Limitation of joint mobility, Ivory epiphyses of the phalanges of the hand, Splenom... OMIM:133540
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Intervertebral disk degeneration, Joint hypermobility, Knee osteoarthrit... ORPHA:284984
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Hypocalcemia ORPHA:746
Marfan Syndrome
Osteopenia, Limited elbow movement, Joint hypermobility, Arthralgia/arthritis, Osteoporosis, Redu... ORPHA:558
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:618268
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... OMIM:137920
Cushing Disease
Osteoporosis, Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:96253
Microcephalic osteodysplastic primordial dwarfism, type III
Severe generalized osteoporosis, Knee flexion contracture, Hip contracture OMIM:210730
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Lymphopenia, Hyperbilirubinemia, Splenom... OMIM:613471
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Septic arthritis, Hype... ORPHA:544482
Hemorrhagic Fever-Renal Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Elevated circulating ... ORPHA:340
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology ORPHA:2396
Primrose Syndrome
Generalized osteoporosis, Hip contracture, Joint hypermobility, Knee flexion contracture, Osteopo... OMIM:259050
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin, Joint hypermobility OMIM:619543
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Decreased circulating iron concentration, Joint hypermobility, Anemia, Osteoporosis ORPHA:438213
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Anemia, Hyperextensibility of the finger joints ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Elevated circulating alkaline phosphatase concentration OMIM:620451
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:600803
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Osteoporosis ORPHA:459070
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
Mirizzi Syndrome
Hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration, Elevated c... ORPHA:521219
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Hepatosplenom... ORPHA:84081
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Hypocalcemia ORPHA:64744
22Q11.2 Deletion Syndrome
Impaired T cell function, Multiple suture craniosynostosis, Hypocalcemia, Splenomegaly, Joint hyp... ORPHA:567
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Reduced bone m... ORPHA:99413
Turner Syndrome
Osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Reduced bone m... ORPHA:881
Mosaic Monosomy X
Osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Reduced bone m... ORPHA:99228
Monosomy X
Osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Reduced bone m... ORPHA:99226
Hyperphosphatasia-Intellectual Disability Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:247262
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Hip contracture, Elevated circulating alkaline phosphatase concentrati... OMIM:300868
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Intervertebral disk degeneration, Joint hypermobility, Knee osteo... OMIM:613795
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or pr... ORPHA:83471
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Joint hypermobility, Camptodactyly, Osteoporosis, Craniosynostosis OMIM:610168
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Gout, Hypocalcemia, Hypokalemia, Iron deficiency anemia ORPHA:358
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function OMIM:192430
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Osteopenia, Increased circulating ferr... OMIM:619534
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:280000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration OMIM:618548
17Q11 Microdeletion Syndrome
Osteopenia, Thickened cortex of long bones, Leukemia, Osteoporosis, Osteolysis ORPHA:97685
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia ORPHA:2237
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Elevated circulating alkaline phosphatase concentration OMIM:614207
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Abnormality of alkaline phosphatase level, Delayed ossification of carpa... OMIM:300106
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphobla... OMIM:608232
Singleton-Merten Syndrome 1
Osteoporosis, Osteopenia, Osteolytic defects of the phalanges of the hand OMIM:182250
Multiple Osteochondromas
Limitation of joint mobility, Abnormal cartilage morphology, Limited hip movement, Arthritis, Lim... ORPHA:321
Generalized Arterial Calcification Of Infancy
Osteomalacia, Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Elevated alka... ORPHA:51608
Proximal Renal Tubular Acidosis
Hypokalemia, Reduced bone mineral density, Bicarbonaturia ORPHA:47159
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:99889
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Elbow flexion contracture, Hepatosplenomegaly, Hemolytic anemia, Portal hypertens... OMIM:619503
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Multiple jo... ORPHA:79318
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Wide anterior fontanel, Abnormal cartilage morphology ORPHA:2347
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:124000
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Johanson-Blizzard Syndrome
Elevated gamma-glutamyltransferase level, Hepatic failure, Intrahepatic cholestasis, Elevated cir... OMIM:243800
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Hypocalcemia, Intervertebral disk degeneration, Hypoplasi... OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Joint hypermobility OMIM:620330
Gallbladder Neuroendocrine Tumor
Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of hepatic origin, Interm... ORPHA:100086
Charge Syndrome
Lymphopenia, Hypocalcemia OMIM:214800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atp6v1h

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp6v1h.

No publications found that use IMPC mice or data for Atp6v1h.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atp6v1hem1(IMPC)Bay Exon Deletion Mice
Atp6v1htm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp6v1htm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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