Gene Summary

Name:
cannabinoid receptor 1 (brain)
Synonyms:
CB1,  CB1R

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
hyperactivity Cnr1tm1.1(KOMP)Vlcg HET Early adult 1.62×10-41
abnormal behavior Cnr1tm1.1(KOMP)Vlcg HET Early adult 1.12×10-39
abnormal skin morphology Cnr1tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Cnr1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased thigmotaxis Cnr1tm1.1(KOMP)Vlcg HET Early adult 1.11×10-39
edema Cnr1tm1.1(KOMP)Vlcg HET E15.5 0.00
edema Cnr1tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
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  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow 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 Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 33.33% (2 of 6)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (2 of 6)
Embryo N/A heterozygote 33.33% (2 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 33.33% (2 of 6)
Forebrain N/A heterozygote 33.33% (2 of 6)
Forelimb N/A heterozygote 33.33% (2 of 6)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 33.33% (2 of 6)
Head N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 0.0% (0 of 6)
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lung N/A heterozygote 0.0% (0 of 6)
Mandibular process N/A heterozygote 0.0% (0 of 6)
Maxillary process N/A heterozygote 0.0% (0 of 6)
Midbrain N/A heterozygote 33.33% (2 of 6)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 33.33% (2 of 6)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 6)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail N/A heterozygote 0.0% (0 of 6)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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 0.0%
bone marrow 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)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 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)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 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)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Adult LacZ

LacZ Images Section

55 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Cnr1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cnr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Lipedema
Edema OMIM:614103
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Angioedema, Hereditary, 5
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619361
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Gray matter heterotopia, Abnormality of neuronal migration, Poly... OMIM:604317
Epilepsy, Nocturnal Frontal Lobe, 5
Personality disorder, Aggressive behavior, Depression, Focal-onset seizure, Status epilepticus, C... OMIM:615005
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Childhood-onse... ORPHA:71529
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Angioedema, Hereditary, 8
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619367
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadism OMIM:615270
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Immunodeficiency 8
Hyperactivity OMIM:615401
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
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
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Creutzfeldt-Jakob Disease
Dementia, Depression, Apathy, Irritability, Anxiety, Myoclonus, Memory impairment OMIM:123400
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Chilblain Lupus 2
Edema OMIM:614415
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Inappropriate behavior, Myoclonus, Cognitive impairment, Memory impairment ORPHA:401901
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Seizure, Social and occupational deterioration, Motor... ORPHA:168782
Pulmonary Blastoma
Weight loss ORPHA:64741
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Lymphatic Malformation 3
Lymphedema OMIM:613480
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Tuberculosis
Weight loss ORPHA:3389
Familial Hyperprolactinemia
Osteoporosis, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia, Osteopenia ORPHA:397685
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Landau-Kleffner Syndrome
Generalized clonic seizure, Nocturnal seizures, Aggressive behavior, Depression, Non-convulsive s... ORPHA:98818
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
White Sponge Nevus 2
Edema OMIM:615785
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ... ORPHA:280356
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:30925
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Abnormal response to ACTH stimulation ... ORPHA:90793
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Self-injurious behavior, Inappropriate crying ORPHA:397933
Sotos Syndrome 3
Hyperactivity OMIM:617169
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:95626
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Lymphatic Malformation 10
Lymphedema OMIM:619369
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Ck Syndrome
Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity ORPHA:251383
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Dysphagia, Weight loss, Primary hyperparathyroidism, Nodul... ORPHA:1332
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Lipodystrophy, Weight loss, Type I diabetes mellitus, Cachexia,... ORPHA:1979
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Ck Syndrome
Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity OMIM:300831
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of gluteal subcu... ORPHA:435651
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemia ORPHA:2126
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Huntington Disease-Like 2
Weight loss ORPHA:98934
Central Diabetes Insipidus
Diabetes insipidus, Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Weight loss, Fatigable weakness of bulbar muscles, Impaired oropharyng... ORPHA:98897
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, In... ORPHA:43
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Elevated seru... ORPHA:556037
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Isaac Syndrome
Weight loss ORPHA:84142
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Elevated seru... ORPHA:556030
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Thymic Carcinoma
Fatigable weakness, Neoplasm of the thymus, Weight loss ORPHA:99868
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Premature ovarian insufficiency, Osteoscle... OMIM:609993
Young-Onset Parkinson Disease
Impaired social interactions, Dystonia, Dementia, Depression, Apathy, Bradykinesia, Panic attack,... ORPHA:2828
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Mulibrey Nanism
Cachexia ORPHA:2576
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of ... OMIM:604367
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Impaired social interactions, Aggressive behavior, Ataxia, Hy... OMIM:610042
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Calvarial o... OMIM:259700
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Elevated circulating luteinizing hormone level, Decreased circula... ORPHA:90796
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Polymicrogyria, Impulsivity, Hyperactivity ORPHA:88616
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Aggressive behavior, Polymicrogyria, Delayed puberty, Hyperactivity, Hypogonadism, S... OMIM:300354
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimuation test, Aggressive behavior, Hyperactivity OMIM:615286
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Abnormal sperm morphology, Reduced sperm motility, Abnormal sperm head morphology ORPHA:320391
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Tonne-Kalscheuer Syndrome
Shyness, Aggressive behavior, Self-injurious behavior, Anxiety, Broad-based gait OMIM:300978
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive... OMIM:601853
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Lack of pe... ORPHA:1942
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Depression, Progressive gait ataxia, Abnormal social behavior, Difficulty wal... ORPHA:309271
Hirschsprung Disease
Neoplasm of the thyroid gland, Weight loss, Failure to thrive in infancy ORPHA:388
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Type I diabetes mellitus, Cachexia, Type II diabe... ORPHA:1133
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, Precocious puberty in f... ORPHA:528
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Riboflavin Transporter Deficiency
Dysphagia, Diabetes insipidus, Hypogonadism, Cachexia ORPHA:97229
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Failur... ORPHA:79237
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Impaired cortisol response to insulin stimulation test, Decreased circulat... ORPHA:361
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Progressive psyc... ORPHA:309263
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Hodgkin Lymphoma
Weight loss ORPHA:98293
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Poo... OMIM:103050
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... ORPHA:85327
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis ORPHA:2785
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Weight loss OMIM:613239
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Ciliary Dyskinesia, Primary, 12
Immotile sperm OMIM:612650
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Weight loss, Nodular goiter ORPHA:142
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Reduced subcutaneous... ORPHA:363400
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Fatigable weakness, Distal arthrogryposis, Cachexia, Fatigable weakness of neck mus... ORPHA:42
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
Majeed Syndrome
Flexion contracture, Synovitis, Increased bone mineral density, Increased susceptibility to fract... ORPHA:77297
Desmosterolosis
Pachygyria, Osteopetrosis, Abnormality of neuronal migration, Increased bone mineral density, Pol... ORPHA:35107
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Cachexia, Type II diabetes mellitus ORPHA:2047
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Ataxia, Abnormal cortical gyration, Unsteady gait,... ORPHA:314647
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Type II diabetes mellitus, Hypogonadism, Attenti... ORPHA:96263
Focal Myositis
Weight loss ORPHA:48918
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increased adipose tissue aro... OMIM:151660
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Mast Cell Sarcoma
Weight loss ORPHA:66661
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Christianson Syndrome
Dysphagia, Arthrogryposis multiplex congenita, Cachexia ORPHA:85278
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Hyperactivity OMIM:616809
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis ORPHA:3165
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia OMIM:610965
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Waddling gait, Dystonia, Shyness ORPHA:280763
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoarthritis ORPHA:77259
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Dysphagia, Weight loss, Cachexia, Hypogonadotropic hypogonadism ORPHA:298
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivit... OMIM:123450
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Fragile X Syndrome
Hyperactivity, Poor eye contact, Periventricular heterotopia OMIM:300624
Inflammatory Bowel Disease 11
Weight loss OMIM:191390