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Gene: Nr1h2 MGI:1352463

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent 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 bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
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
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
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 respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Recur... OMIM:193670
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric acidemia, Optic atrophy, Gliosis OMIM:236792
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Pelizaeus-Merzbacher Disease
Optic atrophy, Reduction of oligodendroglia OMIM:312080
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Renal amyloidosis, Abnormal autonomic nerv... ORPHA:314652
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Butyrylcholinesterase Deficiency
Chronic infection, Paralysis ORPHA:132
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Spasticity OMIM:607624
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... OMIM:604484
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... OMIM:613501
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... OMIM:613493
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Horner Syndrome, Congenital
Paralysis OMIM:143000
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Amyloidosis of peripheral nerves, Abnormal autonomic nervous system physiol... ORPHA:282166
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... OMIM:240500
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba... OMIM:243700
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Gliosis OMIM:603896
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Clumsiness OMIM:610738
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Axonal loss OMIM:300857
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, ... OMIM:617053
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Aplasia of... ORPHA:83471
Variegate Porphyria
Paralysis OMIM:176200
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... ORPHA:572
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Gliosis OMIM:256000
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Leukoencephalopathy With Ataxia
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy OMIM:615651
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu... ORPHA:98813
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... OMIM:607594
Spastic Paraplegia 50, Autosomal Recessive
Optic disc pallor, Gliosis OMIM:612936
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... ORPHA:276
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... ORPHA:183675
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Gliosis OMIM:256600
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Ataxia, Recurrent viral infections, Tremor, Recurrent opportu... OMIM:613179
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Gliosis, Abnormal autonomic nervous system physiology OMIM:614498
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Cervical intraepit... OMIM:614172
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis OMIM:105550
Myeloma, Multiple
Amyloidosis, Paraproteinemia OMIM:254500
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Gliosis OMIM:277470
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Gliosis, Elevated circulating creatine kinase concentration OMIM:616239
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... OMIM:241410
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:486
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Ataxia OMIM:603585
Aapoaiv Amyloidosis
Renal interstitial amyloid deposits, Abnormal lung morphology, Hyperlipidemia, Elevated circulati... ORPHA:439232
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Amyloid deposition in the vitreous humor, Amyloidosis, Abnormal aut... OMIM:105210
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Snakebite Envenomation
Hypopituitarism, Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Female infertility, Recurrent mycobacterial... ORPHA:244
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Immunodeficiency 23
Recurrent respiratory infections, Ataxia, Recurrent staphylococcal infections, Severe varicella z... OMIM:615816
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Ankle clonus, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower r... OMIM:308230
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Gliosis, Autonomic bladder dysfunction, Autonomic erectile dy... OMIM:169500
Hypocomplementemic Urticarial Vasculitis
Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Recurrent bacterial infections, Meningitis ORPHA:36412
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Limb ataxia, Poor fine... ORPHA:51636
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... OMIM:116920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... OMIM:616005
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... OMIM:606367
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchi... OMIM:612541
Pgm3-Cdg
Recurrent respiratory infections, Ataxia, Recurrent viral infections, Recurrent pneumonia, Sepsis... ORPHA:443811
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Recurrent bacterial infections,... OMIM:248500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Ataxia, Recurrent ear infections, Recurrent viral infections,... ORPHA:221139
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... ORPHA:331206
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Ichthyosis, Congenital, Autosomal Recessive 2
External genital hypoplasia, Paralysis OMIM:242100
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:601495
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... ORPHA:79139
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Goiter, Periodic paralysis OMIM:613239
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... OMIM:615468
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Pneumonia OMIM:608033
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Abnormal scrotal rugation, Cryptorchidism, Spasticity, Gonadal dysgenesis,... ORPHA:284339
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Glioblastoma
Paralysis ORPHA:360
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Gliosis OMIM:606688
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Polycystic ovaries ORPHA:2176
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Ataxia, Parkinsonism, Recu... ORPHA:167
Postinfectious Vasculitis
Persistent human papillomavirus infection, Orchitis, Severe varicella zoster infection, Invasive ... ORPHA:48435
Tsh-Secreting Pituitary Adenoma
Tremor, Male hypogonadism, Periodic hypokalemic paresis, Hypogonadotropic hypogonadism, Decreased... ORPHA:91347
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Omenn Syndrome
Hypoplasia of the thymus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent ... OMIM:603554
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism OMIM:244460
Sickle Cell Disease
Recurrent bacterial infections, Priapism, Cholelithiasis OMIM:603903
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Periodic paralysis OMIM:188580
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Brown-Vialetto-Van Laere Syndrome 1
Recurrent respiratory infections, Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue ... OMIM:211530
Poliomyelitis
Paralysis, Paraparesis, Meningitis, Hyperkinetic movements, Fasciculations, Infectious encephalitis ORPHA:2912
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum, Aplasia ... OMIM:300291
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Gliosis, Increased circulating ferritin concentration ORPHA:3240
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Paralysis ORPHA:83601
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Decreased respon... ORPHA:3464
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... OMIM:608233
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Aplasia of the thymus, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous can... OMIM:102700
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis, Pleuritis OMIM:142680
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Ataxia, Tremor, Recu... OMIM:214500
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Chromomycosis
Recurrent bacterial infections ORPHA:182
Inhalational Botulism
Paralysis ORPHA:254504
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lewy bodies, Gliosis OMIM:607485
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Menorrhagia, Recurrent bacterial infections, Irregular menstruation, Polycystic ovaries ORPHA:79259
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Unusual CNS infection, Hyperkinetic movements,... ORPHA:297
Rift Valley Fever
Paralysis, Paraparesis, Severe viral infection, Hemiparesis, Decerebrate rigidity, Infectious enc... ORPHA:319251
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Absent vas deferens, Recurren... ORPHA:586
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi... ORPHA:2968
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Amyloidosis, Renal amyloidosis, Elevated c... OMIM:249100
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia ... OMIM:614527
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia, Hypertonia, Oculomotor apraxia, Cholelit... ORPHA:2072
Q Fever
Pneumonia, Abnormal pulmonary interstitial morphology, Amyloidosis, Increased circulating antibod... ORPHA:781
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cytomegalovirus infection, Rec... OMIM:619573
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Recurrent viral infections, Sepsis, Recurr... ORPHA:811
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Bile duct proliferation, Myoclonus, Tetraparesis OMIM:203700
Glycogen Storage Disease Ib
Recurrent bacterial infections, Pancreatic fibrosis OMIM:232220
African Trypanosomiasis
Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Abnormality of the men... ORPHA:3385
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Cutaneous amyloidosis, Bronchiectasis OMIM:301220
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infec... ORPHA:2273
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Abnormal mast cell morphology ORPHA:98849
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Primary Sclerosing Cholangitis
Amyloidosis, Pleural effusion, Hypoalbuminemia, Polyclonal elevation of IgM ORPHA:171
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased response to growth hormone stimulation test ORPHA:470
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Cerebral amyloid angiopathy OMIM:176500
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Paralysis ORPHA:358
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Gait ataxia, Aplasia of the uterus... OMIM:135900
Cerebral Amyloid Angiopathy, App-Related
Cerebral amyloid angiopathy OMIM:605714
Pineoblastoma
Pinealoma, Paralysis ORPHA:251909
Norrie Disease
Clonus, Cryptorchidism, Hypertonia, Erectile dysfunction, Uterine rupture ORPHA:649
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus OMIM:274000
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Okamoto Syndrome
Bifid uterus ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas... OMIM:601803
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections ORPHA:642

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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