Gene Summary

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

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 circulating cholesterol level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 9.43×10-09
decreased circulating LDL cholesterol level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 1.37×10-06
decreased mean corpuscular hemoglobin Sqstm1tm1a(KOMP)Wtsi HOM Early adult 3.05×10-10
abnormal behavior Sqstm1tm1a(KOMP)Wtsi HOM   Early adult 4.07×10-08
decreased circulating fructosamine level Sqstm1tm1a(KOMP)Wtsi HOM   Early adult 3.68×10-05
decreased circulating HDL cholesterol level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 7.21×10-09
decreased mean corpuscular volume Sqstm1tm1a(KOMP)Wtsi HOM Early adult 4.53×10-17
decreased hemoglobin content Sqstm1tm1a(KOMP)Wtsi HOM Early adult 8.03×10-06
decreased circulating glucose level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 9.70×10-06

Download data as:  TSV  XLS

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

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

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, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
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
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Summitt Syndrome
Craniosynostosis, Obesity OMIM:272350
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal ... OMIM:609734
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Small for gestational a... ORPHA:99886
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Obesity OMIM:144800
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, B... OMIM:231095
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Pseudopseudohypoparathyroidism
Ectopic ossification, Obesity ORPHA:79445
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Bone marrow h... OMIM:166600
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Temple Syndrome
Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia... ORPHA:254516
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bone ossification ORPHA:1952
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity ORPHA:436141
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck OMIM:300718
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Immunodeficiency 61
Arthritis, Agammaglobulinemia, Obesity OMIM:300310
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Myosclerosis, Autosomal Recessive
Restricted neck movement due to contractures, Increased connective tissue, Achilles tendon contra... OMIM:255600
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Splenomegaly, Anemia, Failure to thrive OMIM:615085
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:1486
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Lumbar hyperlordosis... OMIM:602484
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Knee flexion contracture,... OMIM:600175
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Anemia, Splenomega... ORPHA:37748
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hypercholanemia, Familial 1
Rickets OMIM:607748
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria ORPHA:2089
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Facial hyperostosis, Calvarial hyperostosis OMIM:176920
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Brittle ... ORPHA:2889
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Atlantoaxial dislo... OMIM:600561
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Pseudopseudohypoparathyroidism
Osteoporosis, Obesity OMIM:612463
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:600081
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Spinal rigidity, Increased adipose tissue OMIM:617404
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Increased bone mineral density OMIM:614856
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Increased connective tissue, Scoliosis, Hyperlordosis OMIM:617760
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia OMIM:613388
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Sparse axillary hair, Coarse hair, Fair hair, Spar... OMIM:278150
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity, Hip contracture, Hamstring contractures, Elbow flexion... ORPHA:97244
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Advanced ossification of carpal bones, Obesity OMIM:618363
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Summitt Syndrome
Camptodactyly of finger, Craniosynostosis, Tall stature, Obesity ORPHA:3210
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Anauxetic Dysplasia 2
Hyperlordosis, Small nail, Sparse hair, Ovoid vertebral bodies, Flexion contracture, Cervical spi... OMIM:617396
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Truncal obesity, Failure to thrive ORPHA:189427
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis OMIM:600274
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Increased circulating IgE level, Flexion contracture of to... ORPHA:3409
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Abdominal obesity OMIM:615954
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossi... OMIM:241530
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Chylomicron Retention Disease
Acanthocytosis, Steatorrhea, Hypocholesterolemia ORPHA:71
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Splenomegaly,... ORPHA:2785
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Myopathy, Congenital, With Tremor
Scoliosis, Lumbar hyperlordosis, Flexion contracture, Spinal rigidity OMIM:618524
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Rickets, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Abnormal erythrocyte morphology, Hypocholesterolemia, Decreased LDL cholest... ORPHA:96180
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Flexion contracture OMIM:616228
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Joint contracture of the hand OMIM:611067
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Failure to thrive OMIM:220111
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis, Flexion contracture, Congenital foot contraction deformities ORPHA:363454
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Ankle flexion contracture ORPHA:280333
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Dysosteosclerosis
Coarse metaphyseal trabecularization, Recurrent fractures, Craniofacial hyperostosis, Increased b... ORPHA:1782
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Cranial hyperosto... OMIM:259710
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Hip contracture, Knee flexion contracture, Achilles tendon contracture OMIM:615290
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Sparse hair, Kyphosis, Joint contracture of the 5th finger, C... ORPHA:1883
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Hip contracture, Lumbar hyperlordosis OMIM:619042
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Thin bony cortex, Increased bone mineral density ORPHA:85184
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Osteomalacia, A... ORPHA:93160
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... OMIM:606407
Lipodystrophy, Familial Partial, Type 3
Hyperglycemia, Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:604367
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scal... OMIM:613573
Rafiq Syndrome
Obesity OMIM:614202
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Back pain OMIM:618129
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Congenital finger flexion contractures, Flexion contracture, Spinal rigidity, Wris... ORPHA:267
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Hypoplastic finge... ORPHA:2228
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Severe failure to thrive, Hyp... OMIM:246200
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, E... ORPHA:289176
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia, Abnormal leuko... ORPHA:53
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Trichodental Dysplasia
Sparse hair, Odontodysplasia, Slow-growing hair, Brittle hair, Fine hair OMIM:601453
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:264700
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Obesity ORPHA:2235
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices OMIM:122900
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Diabetes mellitus, Insulin resistance OMIM:615980
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis OMIM:607088
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Vitamin D-Dependent Rickets, Type 2A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:277440
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Decreased circulating IgA level, Anemia, Sple... OMIM:612301
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis, Achilles tendon contracture ORPHA:62
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Morbid Obesity And Spermatogenic Failure
Obesity, Type II diabetes mellitus, Insulin resistance OMIM:615703
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia ORPHA:157215
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density ORPHA:3352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity OMIM:609308
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Perrault Syndrome 4
Osteoporosis, Disproportionate tall stature, Obesity OMIM:615300
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Increased susceptibility to fractures, Thin bony cortex, Delayed epiphysea... ORPHA:289157
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Small nail, Broad nail, Ovoid vertebral bodies ORPHA:63446
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fingernail m... ORPHA:248
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Clouston Syndrome
Small nail, Onycholysis, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Pili Torti, Early-Onset
Enamel hypoplasia, Dry hair, Hair shafts flattened at irregular intervals and twisted through 180... OMIM:261900
Melnick-Needles Syndrome
Craniofacial hyperostosis, Joint hyperflexibility, Osteolytic defects of the phalanges of the han... ORPHA:2484
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Elevated c... OMIM:618156
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia, Truncal obesity OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia, Truncal obesity OMIM:610489
Gaucher Disease Type 1
Osteolysis, Increased circulating antibody level, Increased bone mineral density, Pancytopenia, T... ORPHA:77259
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Pick Disease Of Brain
Polyphagia OMIM:172700
Mucolipidosis Type Iii
Hyperlordosis, Inguinal hernia, Abnormal form of the vertebral bodies ORPHA:577
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Failure to thrive OMIM:609069
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adipon... ORPHA:79085
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Inguinal hernia, Sparse hair ORPHA:1174
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:129490
Short Syndrome
Hyperglycemia, Small for gestational age, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Multiple joint contractures ORPHA:352470
Carvajal Syndrome
Woolly hair ORPHA:65282
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Mental Retardation, Autosomal Dominant 23
Scoliosis, Low anterior hairline, Hyperlordosis, Kyphosis, Sacral dimple, Synophrys OMIM:615761
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Kyphosis, Scarring alopecia of scalp, Abnormality of hair texture,... ORPHA:35173
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Bone m... OMIM:131300
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair OMIM:600771
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98754
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Pachydermoperiostosis
Osteoporosis, Osteolysis, Abnormal cortical bone morphology, Limitation of joint mobility, Anemia... ORPHA:2796
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Keloids, Alopecia ... ORPHA:2890
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98793
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Schaaf-Yang Syndrome
Hypogonadism, Polyphagia, Failure to thrive in infancy, Obesity OMIM:615547
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Flexion contracture, ... ORPHA:536516
Temple Syndrome
Joint hypermobility, Overweight, Flexion contracture, Truncal obesity, Small for gestational age OMIM:616222
Halothane Hepatitis
Eosinophilia, Obesity OMIM:234350
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177904
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Naxos Disease
Sparse scalp hair, Curly hair, Woolly hair, Abnormality of hair texture ORPHA:34217
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177901
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity OMIM:612462
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Radioulnar synostosis, Obesity ORPHA:171839
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Truncal obesity OMIM:268050
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Anemia,... OMIM:618838
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia, Truncal obesity OMIM:219080
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Momo Syndrome
Abnormal bone ossification, Tall stature, Overgrowth, Large for gestational age, Obesity ORPHA:2563
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Wide anterior fontanel, Increased bone... ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Ankle flexion contracture OMIM:613818
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dystrophic fingernails,... ORPHA:1882
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increa... OMIM:614450
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture OMIM:613723
Tangier Disease
Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplenomegaly ORPHA:31150
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Flexion contracture, Spinal rigidity ORPHA:157973
Nemaline Myopathy 2
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Flexion contracture, Congenital con... OMIM:256030
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Chung-Jansen Syndrome
Joint hypermobility, Obesity OMIM:617991
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Osteoarthritis, Obesity ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Handigodu Type
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