Gene Summary

Name:
sequestosome 1
Synonyms:
A170,  p62,  STAP,  OSF-6,  Osi

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
decreased mean corpuscular volume Sqstm1tm1a(KOMP)Wtsi HOM Early adult 8.53×10-06
abnormal behavior Sqstm1tm1a(KOMP)Wtsi HOM   Early adult 1.24×10-07
decreased hemoglobin content Sqstm1tm1a(KOMP)Wtsi HOM Early adult 1.52×10-06
decreased mean corpuscular hemoglobin Sqstm1tm1a(KOMP)Wtsi HOM Early adult 2.78×10-05

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 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Histopathology

Images

4 Images

Legacy Phenotype Associated Images

View all 110 images

Human diseases caused by Sqstm1 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 Sqstm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia OMIM:616437
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Dysphagia, Abnormal upper motor neuron morphology ORPHA:275872
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism OMIM:617145
Myopathy, Distal, With Rimmed Vacuoles
OMIM:617158
Behavioral Variant Of Frontotemporal Dementia
ORPHA:275864
Distal Myopathy, Welander Type
ORPHA:603

The table below shows human diseases predicted to be associated to Sqstm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Obesity OMIM:264010
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia, Tall stature OMIM:618406
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia, Adrenocortical adenoma OMIM:248100
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gnathodiaphyseal Dysplasia
Recurrent fractures, Osteopenia, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity OMIM:617885
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Caffey Disease
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... OMIM:114000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Flynn-Aird Syndrome
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... OMIM:136300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hyperostosis Frontalis Interna
Obesity, Hyperostosis frontalis interna OMIM:144800
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Metatropic Dysplasia
Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal enchondr... ORPHA:2635
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse pancreatic is... ORPHA:276556
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Bone m... OMIM:231095
Pseudopseudohypoparathyroidism
Ectopic ossification, Obesity ORPHA:79445
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Proteus Syndrome
Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Mandibular hyperostosis, Facial hyperostosis OMIM:176920
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:2891
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling ORPHA:1952
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility ORPHA:436141
Grant Syndrome
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification ORPHA:2097
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Immunodeficiency 61
Agammaglobulinemia, Obesity, Arthritis OMIM:300310
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Hypercholanemia, Familial 1
Rickets OMIM:607748
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Increased circulating IgM ... ORPHA:37748
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Congenital foot contractures, Scoliosis, Knee flexion cont... OMIM:602484
Gorham-Stout Disease
Abnormal bone ossification, Osteomyelitis, Osteolysis involving bones of the lower limbs, Osteope... ORPHA:73
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... OMIM:600175
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Osteoporosis OMIM:610628
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebrow, Sparse eyelashes, Spars... ORPHA:189
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Myosclerosis, Autosomal Recessive
Spinal rigidity, Thoracolumbar scoliosis, Lumbar hyperlordosis, Achilles tendon contracture OMIM:255600
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Pseudopseudohypoparathyroidism
Obesity, Osteoporosis OMIM:612463
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... OMIM:600081
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... OMIM:609223
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Scoliosis, Spinal rigidity, Increased adipose tissue OMIM:617404
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature, Craniosynostosis ORPHA:3210
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... OMIM:300554
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Increased connective tissue, Hyperlordosis OMIM:617760
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Advanced ossification of carpal bones, Obesity, Truncal obesity OMIM:618363
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... ORPHA:97244
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Flexion contracture, Short neck, Cervical spine instability, Hyperlo... OMIM:617396
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Camptodactyly of finger, Osteoporosis, Flexion contracture of toe, Obesity, ... ORPHA:3409
Narcolepsy Type 1
Obesity ORPHA:2073
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Hyperglycemia OMIM:615954
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis OMIM:617952
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... OMIM:241530
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Osteomalacia, Rickets, Iron deficiency anemia ORPHA:89937
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Failure to thrive, Hyperglycemia OMIM:220111
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Polyphagia OMIM:600274
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Rickets OMIM:611590
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Splenomegaly, Osteopetrosis, Cr... OMIM:259700
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Osteopetrosis, De... OMIM:612301
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Scoliosis, Spinal rigidity, Flexion contracture OMIM:618524
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Myasthenic Syndrome, Congenital, 14
Scoliosis, Flexion contracture, Hyperlordosis OMIM:616228
Morgagni-Stewart-Morel Syndrome
Obesity, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypopl... ORPHA:77297
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Joint contracture of the hand, Hyperlordosis OMIM:611067
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... ORPHA:1782
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Congenital foot contraction deformities, Flexion contracture, Hyperlordosis ORPHA:363454
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Decreased body weight, Type II... ORPHA:2298
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Lumbar hyperlordosis ORPHA:280333
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... ORPHA:759
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Th... OMIM:611490
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia OMIM:619737
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex ORPHA:85184
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... OMIM:259710
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Sparse hair, Brittle hair, Coarse hair, Camptodactyly of finger, Scoliosis, Joint contr... ORPHA:1883
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Osteomalacia, Abnormal bone structure, Osteolysis, Coarse metaphy... ORPHA:93160
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... OMIM:264700
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Oste... ORPHA:53
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... OMIM:300009
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Hyp... OMIM:246200
Trichodental Dysplasia
Sparse hair, Brittle hair, Fine hair, Odontodysplasia, Slow-growing hair OMIM:601453
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... OMIM:300942
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... ORPHA:2228
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Obesity, Osteoporosis, Reduced bone mineral density ORPHA:2235
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Perrault Syndrome 4
Obesity, Osteoporosis, Disproportionate tall stature OMIM:615300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Achilles tendon co... OMIM:615290
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis OMIM:607088
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices OMIM:122900
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Spinal rigidity, Flexion contracture, Congenital finger flexion contractu... ORPHA:267
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density ORPHA:157215
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Sea-blue histiocytosis, Splenomegaly, Thin bony cortex OMIM:230600
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly OMIM:211600
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... OMIM:277440
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Joint hyperfl... ORPHA:2484
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... ORPHA:94086
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Achilles tendon contracture, Hyperlordosis ORPHA:62
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Pili Torti, Early-Onset
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:261900
Gaucher Disease Type 1
Increased circulating antibody level, Increased bone mineral density, Splenomegaly, Osteopenia, L... ORPHA:77259
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Cervical kyphosis, Hypoplastic ... OMIM:222600
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture OMIM:609308
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism, Diabetes mellitus OMIM:615981
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Fine hair, Ridged nail, Slow-growing hair OMIM:129490
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Pick Disease Of Brain
Polyphagia OMIM:172700
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Inguinal hernia, Hyperlordosis ORPHA:577
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair, Inguinal hernia ORPHA:1174
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Sparse scalp hair, Hypoplastic toenails, Patchy alopecia, Sparse eyelashes, Absent fa... OMIM:613573
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia OMIM:612840
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Low anterior hairline, Scoliosis, Hyperlordosis, Synophrys, Sacral dimple OMIM:615761
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Wide anterior fontanel OMIM:614886
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Broad nail, Small nail ORPHA:63446
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabet... ORPHA:79085
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... ORPHA:1433
Hypotrichosis 6
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes OMIM:607903
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:269880
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Carvajal Syndrome
Woolly hair ORPHA:65282
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Joint hypermobility, Craniosynostosis OMIM:619056
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis, Elbow flexion contracture ORPHA:206546
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Temple Syndrome
Flexion contracture, Small for gestational age, Truncal obesity, Joint hypermobility, Overweight OMIM:616222
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Osteoporosis, Arthritis, Osteolysis, Anemia, Abnormal cortical bone ... ORPHA:2796
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis ORPHA:352470
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Pseudohypoparathyroidism, Type Ia
Obesity, Osteoporosis, Subcutaneous ossification OMIM:103580
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Halothane Hepatitis
Obesity, Eosinophilia OMIM:234350
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... ORPHA:113
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Fine hair, Brittle scalp hair OMIM:600771
Pseudohypoparathyroidism, Type Ic
Obesity, Osteoporosis OMIM:612462
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair ORPHA:34217
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis, Truncal obesity OMIM:219080
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal bone ossification, Increased bone mineral density, Delayed patel... ORPHA:163649
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis, Knee flexion contracture OMIM:610687
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... ORPHA:536516
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Radioulnar synostosis, Craniosynostosis ORPHA:171839
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Joint hypermobility OMIM:268050
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis, Truncal obesity OMIM:610475
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Schaaf-Yang Syndrome
Obesity, Polyphagia, Failure to thrive in infancy, Hypogonadism OMIM:615547
Huntington Disease
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia ORPHA:399
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Momo Syndrome
Abnormal bone ossification, Tall stature, Overgrowth, Large for gestational age, Obesity ORPHA:2563
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Chung-Jansen Syndrome
Obesity, Joint hypermobility OMIM:617991
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... OMIM:614450
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Carpenter Syndrome
Obesity, Polysplenia, Craniosynostosis ORPHA:65759
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Rafiq Syndrome
Flexion contracture, Truncal obesity, Joint laxity, Joint hypermobility, Obesity OMIM:614202
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Failure to thrive, Increased bone mineral density, Osteopenia, Ankylosis, Os... OMIM:239000
Prader-Willi-Like Syndrome
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... ORPHA:398073
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Nemaline Myopathy 2
Spinal rigidity, Flexion contracture, Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenit... OMIM:256030
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Osteoporosis, Truncal obesity, Small for gestational age ORPHA:73272
Adiposis Dolorosa
Obesity OMIM:103200
Fanconi-Bickel Syndrome