Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 1, group H, member 2
Synonyms:
Unr2,  LXRB,  LXRbeta,  RIP15

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nr1h2 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 Nr1h2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Recur... OMIM:193670
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Optic atrophy OMIM:312080
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Primary amenorrhea, Female hypogonadism, Cr... ORPHA:755
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Myoclonus OMIM:606777
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Hemiparesis, ... ORPHA:71277
46,Xy Sex Reversal 11
Aplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnorm... OMIM:273250
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Gonadal... OMIM:612964
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Spasticity OMIM:607624
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Degeneration of anterior horn cells, Axonal degeneration, Mildly elevated creatin... OMIM:604484
Butyrylcholinesterase Deficiency
Chronic infection, Paralysis ORPHA:132
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Cutaneous amyloidosis, Cardiac amyloidosis, Renal amyloidosis, ... ORPHA:314652
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia OMIM:606183
46,Xy Sex Reversal 8
Cryptorchidism, Sex reversal, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Hemimegalencephaly
Gliosis, Abnormal neuron morphology, Optic atrophy ORPHA:99802
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Ele... OMIM:619203
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
L-2-Hydroxyglutaric Aciduria
Gliosis, L-2-hydroxyglutaric acidemia, Optic atrophy OMIM:236792
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Horner Syndrome, Congenital
Paralysis OMIM:143000
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Prostatitis, Men... OMIM:307200
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Perrault Syndrome 4
Primary amenorrhea, Secondary amenorrhea, Increased circulating gonadotropin level, Gait ataxia, ... OMIM:615300
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Hypoplasia of the ... OMIM:614841
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infe... OMIM:243700
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:240500
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Variegate Porphyria
Paralysis OMIM:176200
Mirage Syndrome
Achalasia, Cryptorchidism, Shawl scrotum, Recurrent bacterial infections, Recurrent urinary tract... OMIM:617053
Leukoencephalopathy With Vanishing White Matter
Gliosis, Optic atrophy OMIM:603896
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 9
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619665
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Clumsiness, Recurrent bacterial infections OMIM:610738
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent viral infections, Recurrent bacterial infec... ORPHA:572
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection, Chronic oral ... ORPHA:83471
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:275
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Vestibular nystagmus, Abnormal autonomic nervous system physiol... ORPHA:282166
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Amenorrhea, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Leigh Syndrome
Gliosis, Pigmentary retinopathy, Optic atrophy OMIM:256000
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Papillorenal Syndrome
Morning glory anomaly, Retinal detachment, Chorioretinal atrophy, Macular degeneration, Gliosis, ... OMIM:120330
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis... OMIM:607594
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Miscarriage ORPHA:99927
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurr... ORPHA:183675
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis, Abnormal cranial nerve morphology OMIM:105250
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Norrie Disease
Retinal fold, Retinal detachment, Retinal dysplasia, Optic atrophy OMIM:310600
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Severe recurrent varicella, Recurrent bacterial infections... ORPHA:276
Spinocerebellar Ataxia, X-Linked 3
Gliosis, Recurrent respiratory infections, Optic disc pallor, Optic atrophy OMIM:301790
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Leukoencephalopathy With Ataxia
Optic neuropathy, Abnormal chorioretinal morphology OMIM:615651
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Irregular menstruation, Primary amenor... ORPHA:90793
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy OMIM:616239
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fu... ORPHA:2688
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Selective Igm Deficiency
Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recurrent pneumonia, Recu... ORPHA:331235
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Recurrent upper respiratory tract infections, Recurrent viral infections, Spastic d... OMIM:613179
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:911
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Myeloma, Multiple
Amyloidosis, Paraproteinemia OMIM:254500
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Paralysis, Ataxia, Paraparesis, Hemiparesis ORPHA:140989
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Optic atrophy, Decreased nerve conduction velocity OMIM:256600
Renal Coloboma Syndrome
Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma ORPHA:1475
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, Amyloidosis, Orthosta... OMIM:105210
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Impotence, Hemiparesis, Progressive spastic paraparesis, ... ORPHA:43
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, M... ORPHA:169090
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Leber Optic Atrophy
Leber optic atrophy, Optic neuropathy, Optic atrophy, Central retinal vessel vascular tortuosity OMIM:535000
Vaginal Atresia
Vaginal hematocele, Primary amenorrhea, Uterus didelphys, Vaginal atresia, Transverse vaginal sep... ORPHA:65681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Retinal dysplasia, Optic nerve dysplasia OMIM:615287
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Optic neuropa... ORPHA:98977
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Primary amenorrhea, Hypoplasia of the vagina, Polycystic ovaries,... ORPHA:90796
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Recurrent bacterial infections, Decreased response to growth hormone ... OMIM:241410
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Degeneration of anterior horn cells, Decreased nerve conduc... OMIM:118301
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent i... ORPHA:486
Omenn Syndrome
Hypoplasia of the thymus, Recurrent bacterial infections, Recurrent viral infections, Recurrent f... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Ataxia OMIM:603585
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Paraproteinemia, Cutaneous amyloid... ORPHA:439232
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Parotitis, Recurrent bacterial... ORPHA:51636
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Abnormal sperm motility, Male inferti... ORPHA:244
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Ataxia, Cerebral palsy, Meningitis, Hemiplegia/hemiparesis ORPHA:36412
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Autonomic bladder dysfunction, Autonomic erectile dysfunction... OMIM:169500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Recurrent bacterial infections, Recurrent respiratory infections, Sepsis, Hypopla... OMIM:612541
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Chorea, Exaggerated startle response, H... OMIM:272750
Immunodeficiency 23
Cortical myoclonus, Recurrent Staphylococcus aureus infections, Molluscum contagiosum, Severe var... OMIM:615816
Snakebite Envenomation
Hypopituitarism, Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Paralysis, Myoclonus ORPHA:83601
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Primary amenorrhea, Hypoplasia of the uterus ORPHA:247768
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Decreased fertility, Adrenocorticotropic hormone excess, Cryptorchidism, A... ORPHA:168558
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent bacterial infections, Severe varicella zoster infection, Re... OMIM:606367
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Decreased fertility, Adrenocorticotropic hormone excess, Cryptorchidism, A... ORPHA:289548
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Primary amenorrhea, Septate vagina, Uterus didelphys, Aplasia of the vagin... OMIM:146255
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233690
46,Xy Sex Reversal 4
Hypoplastic labia majora, Recurrent otitis media, Gonadal dysgenesis, Sex reversal, Hypergonadotr... OMIM:154230
Vici Syndrome
Penile hypospadias, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal ... OMIM:242840
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Pgm3-Cdg
Cortical myoclonus, Recurrent pneumonia, Recurrent infections, Recurrent viral infections, Recurr... ORPHA:443811
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, External genital hypoplasia OMIM:242100
Wolfram Syndrome 2
Decreased circulating antibody level, Optic neuropathy, Impaired collagen-induced platelet aggreg... OMIM:604928
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Mannosidosis, Alpha B, Lysosomal
Abnormal pyramidal sign, Recurrent bacterial infections, Gait ataxia, Spasticity, Limb ataxia, Ba... OMIM:248500
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent enterovira... OMIM:601495
Sickle Cell Anemia
Priapism, Cholelithiasis, Recurrent bacterial infections OMIM:603903
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Recurrent viral infections, Intention tremor, Recurrent bacterial infec... ORPHA:221139
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent bacterial infections, Recurrent upper and lower respiratory... ORPHA:331206
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Erectile dysfunction, Decreased fertility in males, Increase... ORPHA:91347
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent gram-negative bact... OMIM:116920
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Polycystic ovaries ORPHA:2176
Japanese Encephalitis
Hypertonia, Paralysis, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Infectious encephaliti... ORPHA:79139
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Pneumonia OMIM:608033
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Rift Valley Fever
Paralysis, Infectious encephalitis, Miscarriage, Paraparesis, Hemiparesis, Severe viral infection... ORPHA:319251
Chédiak-Higashi Syndrome
Recurrent infections, Parkinsonism, Recurrent streptococcal infections, Recurrent bacterial infec... ORPHA:167
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Decreased fertility, Hypogonadotropic hypogonadism, Precocious puberty in ... ORPHA:90794
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Molluscum contagiosum, Recurrent bacterial infections, Aplasia ... OMIM:300291
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Choreoathetosis, Micropenis, Hypoplasia of the fallopian tube, Ele... OMIM:241080
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Periodic paralysis OMIM:613239
Immunodeficiency With Hyper-Igm, Type 1
Recurrent lower respiratory tract infections, Recurrent bacterial infections, Sepsis, Meningitis OMIM:308230
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Periodic paralysis OMIM:188580
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism OMIM:244460
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Cryptorchidism, Micropenis, Involuntary movements, Fasciculations, Absent ... ORPHA:284339
Glioblastoma
Paralysis ORPHA:360
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Absent brainstem auditory responses, Increased circulating ferritin concentration ORPHA:3240
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Poliomyelitis
Paralysis, Infectious encephalitis, Fasciculations, Meningitis, Paraparesis, Hyperkinetic movements ORPHA:2912
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:306400
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial inf... OMIM:608233
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Bile duct proliferation, Ataxia, Myoclonus, Hypertonia OMIM:203700
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal... OMIM:102700
Chediak-Higashi Syndrome
Recurrent infections, Ataxia, Recurrent systemic pyogenic infections, Recurrent bacterial skin in... OMIM:214500
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Pleuritis, Hepatic amyloidosis OMIM:142680
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Choreoathetosis, Micropenis, Abnormal spermatogenesis, Hypoplasia of th... ORPHA:3464
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Recurrent tonsillitis, Meningitis, Recurrent fungal infections, R... ORPHA:2968
Chromomycosis
Recurrent bacterial infections ORPHA:182
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Lewy bodies, Neurofibrillary tangles OMIM:607485
Inhalational Botulism
Paralysis ORPHA:254504
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Menorrhagia, Recurrent bacterial infections, Irregular menstruation, Polycystic ovaries ORPHA:79259
Tick-Borne Encephalitis
Incoordination, Paralysis, Meningitis, Speech apraxia, Tongue fasciculations, Unusual CNS infecti... ORPHA:297
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Long penis, Ambiguous genitalia, female, Precocious puberty in males, C... OMIM:202010
Hyperkalemic Periodic Paralysis
Fasciculations, Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia ORPHA:682
Familial Mediterranean Fever
Renal amyloidosis, Pleural effusion, Elevated circulating amyloid A, Elevated circulating C-react... OMIM:249100
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Polycystic ovaries, Elevated circulating luteinizi... ORPHA:572333
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Exstrophy-Epispadias Complex
Male sexual dysfunction, Bifid penis, Cryptorchidism, Absent penis, Bifid uterus, Female sexual d... ORPHA:322
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Micropenis, Ambiguous genitalia, female, Absent scrotum, Ve... OMIM:258040
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Q Fever
Pneumonia, Pleural effusion, Increased circulating antibody level, Amyloidosis, Abnormal pulmonar... ORPHA:781
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Hemiplegia, Hemiparesis, Tetraplegia, Spasticity, Hypertonia ORPHA:2396
Limb-Mammary Syndrome
Aplasia of the uterus, Primary amenorrhea, Absent nipple, Aplasia of the ovary, Hypoplastic nippl... ORPHA:69085
Shwachman-Diamond Syndrome
Recurrent viral infections, Hypopituitarism, Pancreatic hypoplasia, Recurrent bacterial infection... ORPHA:811
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Recurrent urinary tra... OMIM:614527
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Paralysis, Azoospermia, Spastic paraplegia, Limb ataxia, Oculomotor apraxia, Hype... ORPHA:2072
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Hypoparathyroidism, Par... ORPHA:2237
Andersen-Tawil Syndrome
Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Periodic paralysis ORPHA:37553
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia, Tremor ORPHA:79102
African Trypanosomiasis
Infertility, Paralysis, Choreoathetosis, Involuntary movements, Fasciculations, Miscarriage, Impo... ORPHA:3385
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Severe cytomegalovirus infection, Recurrent bacterial infections, Rec... OMIM:619573
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Absent external genitalia, Urethral atresia OMIM:271520
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Immunodeficiency 47
Recurrent infections, Recurrent bacterial infections OMIM:300972
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Abnormal mast cell morphology ORPHA:98849
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Cryptorchidism, Micropenis, Bifid scrotum, Ambiguous genitalia OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Recurrent respiratory infections, Recurrent infections, Recurrent bacterial infec... ORPHA:2273
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Cerebral amyloid angiopathy OMIM:176500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Gitelman Syndrome
Paralysis, Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Cerebral Amyloid Angiopathy, App-Related
Cerebral amyloid angiopathy OMIM:605714
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts OMIM:274000
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Recurrent bacterial infections ORPHA:470
Norrie Disease
Motor stereotypy, Cryptorchidism, Erectile dysfunction, Clonus, Uterine rupture, Hypertonia ORPHA:649
Pineoblastoma
Pinealoma, Paralysis ORPHA:251909
Coffin-Siris Syndrome 1
Aplasia of the uterus, Cryptorchidism, Gait ataxia, Recurrent respiratory infections, Hypospadias... OMIM:135900
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Recurrent upper respiratory tract infections, Cryptorchi... OMIM:180849
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Townes-Brocks Syndrome 1
Rectovaginal fistula, Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Rectoperineal ... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Uterine rupture, Cystocele OMIM:130050
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis OMIM:236680
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia of the uterus, Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Hypospadias OMIM:194190
Okamoto Syndrome
Bifid uterus ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Aplasia of the sweat glands ORPHA:642
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture, Hypospadias ORPHA:286
Pallister-Killian Syndrome
Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Cryptorchidism, Supernumerary nip... OMIM:601803

Histopathology

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

There is no histopathology data for Nr1h2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nr1h2.

No publications found that use IMPC mice or data for Nr1h2.

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