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Gene: Lancl1 MGI:1336997

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Gene Summary

Name:
LanC (bacterial lantibiotic synthetase component C)-like 1
Synonyms:
p40,  Gpr69a,  LanC-like protein 1

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Lancl1 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 Lancl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, P... OMIM:300624
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Fragile X Syndrome
Sinusitis, Chronic otitis media, Folate-dependent fragile site at Xq28, Otitis media, Macroorchid... ORPHA:908
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Partington Syndrome
Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Cerebral atrophy OMIM:160900
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Infectious encephalitis, Hypospadias, Cerebral cortical atrophy ORPHA:1194
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Reduced sperm motility, Cerebral c... ORPHA:320391
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Ciliary Dyskinesia, Primary, 41
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media OMIM:618449
Dyskeratosis Congenita, Autosomal Recessive 2
Recurrent opportunistic infections, Testicular atrophy OMIM:613987
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Eczema, Aplasia/Hypoplasia of the testes ORPHA:3055
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... OMIM:307200
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Cerebral atrophy, Hypothyroidism, Testicular atrophy OMIM:222300
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Arthritis, Infertility, Erectil... ORPHA:465508
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Recurrent upper respiratory tract infections, Polycystic ovaries ORPHA:284180
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m... OMIM:619436
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent ear infections, Recurrent upper respiratory tract infections, R... OMIM:614962
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... OMIM:612650
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Polymicrogyria, Hypospadias OMIM:618874
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Cryptorchidism, Mal... ORPHA:847
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Nephritis, Pyelonephritis, Oligozoospermia OMIM:314300
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... OMIM:612649
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Absent outer dynein arms, Bronchiectasis, Rhinitis, Infertility... OMIM:615500
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Abnormal axonemal o... OMIM:613807
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra OMIM:300322
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Enteroviral... OMIM:300755
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Erectile dysfunction, Hypothyroidism, In... ORPHA:3452
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Central Precocious Puberty In Male
Acne, Abnormality of the testis size, Pituitary microadenoma, Abnormal response to gonadotropin-r... ORPHA:649929
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Meningitis, Oligozoospermia, Hypogo... ORPHA:91351
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility OMIM:602271
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Abnormal axonemal organization of respiratory motile cilia, Rec... OMIM:613808
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormal f... ORPHA:2552
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Gm1 Gangliosidosis
Recurrent respiratory infections, Patent ductus arteriosus, Abnormality of the scrotum, Aspiratio... ORPHA:354
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Neurodegeneration OMIM:615889
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Lead Poisoning
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Oligozoospermia, Tubuloin... ORPHA:330015
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, I... OMIM:615444
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis ORPHA:761
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Conjunctivitis, Meningitis, Infectious encephaliti... ORPHA:448237
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... ORPHA:1163
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Recurrent pneumonia, Neurodegenerat... OMIM:214150
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Recurrent pharyngitis, Fulminant hepatitis, Severe Epstein Barr... OMIM:308240
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Bronchiectasis, Coiled sperm flagella, Recurr... OMIM:620197
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm OMIM:242670
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Cerebral Visual Impairment
Unusual CNS infection, Central nervous system degeneration, Neurodegeneration, Meningitis, Infect... ORPHA:447788
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Recurrent inf... ORPHA:352447
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Recurrent urinary tract infections, Pneumonia, Osteomyelitis, Ski... ORPHA:36234
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormality of chromosome stability, Diabetes mellitus, Polycys... ORPHA:100
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Neurocutaneous Melanocytosis
Infectious encephalitis, Abnormality of neuronal migration ORPHA:2481
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Global brain atrophy ORPHA:363558
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurren... OMIM:608647
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Spastic Paraplegia Type 7
Cerebellar atrophy, Cerebral cortical atrophy, Abnormal mitochondrial morphology ORPHA:99013
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Increased mitochondrial number, Decreased activity of mitochond... OMIM:619063
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... ORPHA:786
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis ORPHA:83317
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Global brain atrophy, Degeneration of the lateral corticospina... ORPHA:275872
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Tubulointerstitial nephritis, Hypo... ORPHA:85450
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis, Reduced sperm motility OMIM:615434
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Adrenoleukodystrophy
Primary adrenal insufficiency, Impotence, Hypogonadism, Neurodegeneration OMIM:300100
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... ORPHA:139402
Avian Influenza
Pneumonia, Hepatitis, Conjunctivitis, Meningitis, Infectious encephalitis, Myelitis ORPHA:454836
Bloom Syndrome
Male infertility, Recurrent herpes, Diabetes mellitus, Premature ovarian insufficiency, Recurrent... ORPHA:125
Legionnaires Disease
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Infectious encephaliti... ORPHA:549
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Infectious encephalitis ORPHA:58
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Meningitis, Infectious encephalitis ORPHA:292
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis ORPHA:540
Meningococcal Meningitis
Skin rash, Infectious encephalitis ORPHA:33475
American Trypanosomiasis
Skin rash, Myocarditis, Infectious encephalitis ORPHA:3386
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... OMIM:615122
Listeriosis
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocardit... ORPHA:533
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Female infertility, Recurrent mycobacterial... ORPHA:244
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Diaminopentanuria
Neurodegeneration OMIM:222350
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Meningitis, M... ORPHA:781
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal testis morphology ORPHA:54251
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Diabetes mellitus, Unusual skin infection, Pericarditis, Gas... ORPHA:73263
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Severe infection... ORPHA:31204
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Reduced progressive sperm motility OMIM:619608
Incontinentia Pigmenti
Skin rash, Supernumerary nipple, Keratitis, Uveitis, Infectious encephalitis, Cerebral cortical a... ORPHA:464
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Meningitis, Infectious encephalitis OMIM:603553
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... ORPHA:391487
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Infectious encephalitis OMIM:267700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Recurrent respiratory infections, Precocious puberty, Recurrent infections, Recurrent otitis medi... OMIM:619950
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Aspartylglucosaminuria
Macroorchidism, Recurrent respiratory infections, Acne, Cerebral atrophy OMIM:208400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Meningitis, Infectious encephalitis ORPHA:79139
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ambiguous genitalia, ... ORPHA:543470
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Abnormality of the ad... ORPHA:68
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholangitis, Chronic ora... OMIM:308230
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Lig4 Syndrome
Hypoplasia of penis, Abnormality of chromosome stability, Cryptorchidism, Type II diabetes mellit... ORPHA:99812
Acute Disseminated Encephalomyelitis
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... ORPHA:83597
Aspartylglucosaminuria
Macroorchidism, Recurrent respiratory infections, Chronic otitis media, Arthritis ORPHA:93
Coccidioidomycosis
Abnormal sperm morphology, Pericarditis, Osteomyelitis, Pneumonia, Skin rash, Coccidioidal mening... ORPHA:228123
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Lon... ORPHA:744
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Gout, Hypoplasia of the ute... OMIM:137920
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Decreased fertility in females, Cryptor... OMIM:210900
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Rift Valley Fever
Skin rash, Severe viral infection, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Diabetes mellitus, Arthralgia/arthritis, Pneumon... ORPHA:449280
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic meningitis, Re... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic meningitis, Re... ORPHA:95513
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem OMIM:612319
Barth Syndrome
Recurrent infections in infancy and early childhood, Abnormal mitochondrial morphology, Recurrent... OMIM:302060
Tetrasomy 9P
Absent gallbladder, Myositis, Recurrent urinary tract infections, Pericarditis, Cryptorchidism, O... ORPHA:3310
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent skin infections, Recurrent respiratory infections, Recurrent urinary tract infections, ... OMIM:620210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Abnormal mitochondrial shape, Hypospadias, Patent ductus arteri... ORPHA:17
Melioidosis
Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ... ORPHA:31202
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy OMIM:617672
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Abnormal mitochondrial shape, Cerebral atrophy ORPHA:412217
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Cerebral atrophy, Lissencephaly... OMIM:606812
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... ORPHA:324625
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Erysipelas, Arthritis, Crohn's disease, Meningitis OMIM:249100
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... OMIM:233600
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Abnormality of mitochondrial metabolism, Cerebral atrophy, Frontotempor... ORPHA:391428
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep dermatophytosis, Meningitis OMIM:212050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Decreased activity of mitochondrial complex III, Cerebral atrophy, Neurodegen... OMIM:615157
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling ORPHA:397744
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Neurodegeneration, Decreased ... OMIM:616239
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Pancreatic cysts, Pyelonephritis, Pituitary growth hormone ce... ORPHA:730
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Pneumonia, Maternal diabetes ORPHA:464370
Multiple System Atrophy 1, Susceptibility To
Impotence, Neurodegeneration OMIM:146500
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic m... ORPHA:91355
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... ORPHA:3392
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal mitochondrial shape ORPHA:485421
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... ORPHA:342
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, Meningiti... ORPHA:83471
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Cysticercosis
Iridocyclitis, Infectious encephalitis ORPHA:1560
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Recurrent pneumon... OMIM:251260
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Cerebral atrophy, Neurodegeneration, Hypothyroidism, Premature pubarche OMIM:616878
Immunodeficiency 46
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy OMIM:256600
Cryptococcosis
Osteomyelitis, Pneumonia, Prostatitis, Peritonitis, Meningitis, Cerebral cortical atrophy ORPHA:1546
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Combined Oxidative Phosphorylation Defect Type 29
Axonal degeneration, Decreased activity of mitochondrial complex III, Neurodegeneration, Decrease... ORPHA:478029
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Diabetes insipidus, Skin rash, Increas... ORPHA:900
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Epididymal cyst, Recurrent... OMIM:136140
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Periventricular heterotopia OMIM:618476
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Meningitis, Hypothyroidism, Hyperthyroidism, Pso... ORPHA:37042
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Autoinflammation With Infantile Enterocolitis
Skin rash, Meningitis, Enterocolitis OMIM:616050
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Follicular Lymphoma
Meningitis ORPHA:545
Acute Transverse Myelitis
Invasive parasitic infection, Extrapulmonary tuberculosis, Priapism, Severe viral infection, Diss... ORPHA:139417
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratiti... ORPHA:906
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Arthritis, Recurrent bacte... ORPHA:36412
Cinca Syndrome
Skin rash, Arthritis, Meningitis, Uveitis OMIM:607115
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Meningitis, Abnormality of the... ORPHA:449395
Adult-Onset Still Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Arthritis, Meningitis ORPHA:829
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Recurrent pneumonia, Neurodegeneration OMIM:309900
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy ORPHA:309246
Cinca Syndrome
Inflammatory abnormality of the eye, Retrobulbar optic neuritis, Meningitis, Uveitis ORPHA:1451
Gorham-Stout Disease
Osteomyelitis, Meningitis ORPHA:73
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Neurodegeneration, Cerebral atrophy OMIM:618321
Hurler Syndrome
Recurrent otitis media, Recurrent respiratory infections, Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Recurrent upper respiratory tract infections, Neurodegeneration OMIM:253220
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... ORPHA:809
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Osteomyelitis, Hypospadias, Recurrent ear infections, Recurrent infections, Neurod... OMIM:619475
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections... OMIM:214500
Angiostrongyliasis
Unusual CNS infection, Meningitis ORPHA:74
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Neur... OMIM:259050
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy OMIM:272750
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration OMIM:606159
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Recurrent pharyngitis, Arthritis, Meningitis ORPHA:397
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... ORPHA:379
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Arachnoiditis
Meningitis ORPHA:137817
Progressive Multifocal Leukoencephalopathy
Meningitis ORPHA:217260
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610217
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Sepsis In Premature Infants
Severe infection, Disseminated viral infection, Meningitis, Enterocolitis ORPHA:90051
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration OMIM:614298
Tick-Borne Encephalitis
Unusual CNS infection, Meningitis, Myelitis ORPHA:297
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Diabetes mellitus, Pneumonia, Myocarditis, Severe infection, Severe viral infectio... ORPHA:544482
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Cheilitis, Arthritis, Con... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Recurrent infections, Inflammation of the large intestine, Blepha... OMIM:617718
Hydranencephaly
Meningitis, Cerebral cortical atrophy, Atrophic pituitary gland ORPHA:2177
Trichinellosis
Skin rash, Meningitis, Conjunctivitis ORPHA:863
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... OMIM:301000
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Neurodegeneration, Global brain atrophy OMIM:234200
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Enlargement of parotid gland, Malar rash, Meningitis ORPHA:50918
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Acute infec... ORPHA:707
Leptospirosis
Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis, Meningitis ORPHA:509
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145

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 Lancl1

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 Lancl1.

No publications found that use IMPC mice or data for Lancl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lancl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lancl1em1(IMPC)Mbp Insertion, Intragenic deletion Mice, Tissue

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