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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
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Acne ORPHA:3000
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Young Syndrome
Decreased fertility, Recurrent bronchitis, Recurrent sinopulmonary infections, Obstructive azoosp... ORPHA:3471
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
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
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Decreased testicular size, Infertility, Reduced sperm motility, Cerebe... ORPHA:320391
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Myotonic Dystrophy 1
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
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
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Decreased response to gro... OMIM:307200
Young Syndrome
Recurrent bronchitis, Azoospermia, Recurrent sinopulmonary infections, Bronchiectasis OMIM:279000
Ciliary Dyskinesia, Primary, 41
Bronchiectasis, Infertility, Recurrent sinusitis, Recurrent otitis media, Immotile sperm OMIM:618449
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Arthritis, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellit... ORPHA:465508
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Recurrent opportunistic infections OMIM:613987
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Cerebral atrophy OMIM:222300
Non-Functioning Pituitary Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... ORPHA:91349
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Cerebral cortical atrophy, Infectious encephalitis, Cryptorchidism ORPHA:1194
Fragile X Syndrome
Periventricular heterotopia, Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Polyembryoma
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... ORPHA:180229
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Pyelonephritis, Nephritis, Cryptorchidism OMIM:314300
Fragile X Syndrome
Macroorchidism, Cerebral cortical atrophy, Sinusitis, Otitis media, Chronic otitis media ORPHA:908
Partington Syndrome
Macroorchidism ORPHA:94083
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced sperm motility, Recurrent sinusitis, Recurrent otitis media, Recurrent pn... OMIM:619436
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central micro... OMIM:617091
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Reduced sperm motility, Chronic sinusitis, Abnormal central microtubular pair mor... OMIM:612650
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... ORPHA:91351
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Ciliary Dyskinesia, Primary, 11
Bronchiectasis, Reduced sperm motility, Recurrent sinusitis, Abnormal central microtubular pair m... OMIM:612649
Ciliary Dyskinesia, Primary, 26
Rhinitis, Recurrent respiratory infections, Bronchiectasis, Infertility, Reduced sperm motility, ... OMIM:615500
Agammaglobulinemia, X-Linked
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Bronchiectasis, Prostatit... OMIM:300755
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein a... OMIM:613807
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Whipple Disease
Hypothyroidism, Arthritis, Uveitis, Erectile dysfunction, Pericarditis, Myositis, Infectious ence... ORPHA:3452
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Ciliary Dyskinesia, Primary, 18
Rhinitis, Absent inner dynein arms, Recurrent sinusitis, Recurrent otitis media, Male infertility... OMIM:614874
Hemochromatosis, Type 2A
Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea OMIM:602390
Microsporidiosis
Brain abscess, Prostatitis, Myositis, Pneumonia, Lymphadenitis, Endocarditis, Osteomyelitis, Thyr... ORPHA:2552
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility OMIM:602271
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra OMIM:300322
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries, Recurrent upper respiratory tract infections ORPHA:284180
Mccune-Albright Syndrome
Decreased fertility, Irregular menstruation, Macroorchidism, Precocious puberty, Increased circul... ORPHA:562
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Infertility, Chronic ... OMIM:613808
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Ambiguous genitalia, Cerebral cortical atrophy, Recurrent urinary tract infections, Abnormality o... ORPHA:847
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Gm1 Gangliosidosis
Patent ductus arteriosus, Abnormality of the scrotum, Aspiration pneumonia, Infectious encephalit... ORPHA:354
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud... ORPHA:91
48,Xyyy Syndrome
Primary gonadal insufficiency, Azoospermia, Male hypogonadism, Recurrent upper respiratory tract ... ORPHA:99329
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Cerebellar atrophy, Neurodegeneration OMIM:615889
Lead Poisoning
Tubulointerstitial nephritis, Decreased female libido, Skin rash, Infertility, Decreased circulat... ORPHA:330015
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Ciliary Dyskinesia, Primary, 22
Rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Infertility, Reduced sperm motility... OMIM:615444
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Infertility, Azoospermia, Chronic sinusitis, Chronic rhinitis, Absent o... OMIM:618300
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Aspergillosis
Osteomyelitis, Bronchiectasis, Hepatitis, Unusual CNS infection, Invasive pulmonary aspergillosis... ORPHA:1163
Zika Virus Disease
Conjunctivitis, Myelitis, Skin rash, Arthritis, Meningitis, Infectious encephalitis, Maculopapula... ORPHA:448237
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Immunodeficiency 37
Infectious encephalitis, Recurrent infections, Colitis OMIM:616098
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Bare Lymphocyte Syndrome, Type Ii
Infectious encephalitis, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, C... OMIM:209920
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Immunoglobulin A Vasculitis
Arthritis, Skin rash, Pustule, Episcleritis, Infectious encephalitis, Orchitis ORPHA:761
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Recurrent infections, Hypergonadotropic hypog... ORPHA:352447
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Fulminant hepatitis, Recurrent pharyngitis, Meningitis, Infe... OMIM:308240
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Pfapa Syndrome
Arthritis, Infectious encephalitis, Recurrent pharyngitis ORPHA:42642
Cerebral Visual Impairment
Unusual CNS infection, Central nervous system degeneration, Meningitis, Infectious encephalitis, ... ORPHA:447788
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Sinusitis, Immotile sperm OMIM:242670
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Polymicrogyria OMIM:618874
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Behçet Disease
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pericarditis,... ORPHA:117
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism, Type II diab... OMIM:602668
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Severe varicella zoster infection, Osteomyelitis, Severe infection... ORPHA:36234
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Mollus... OMIM:618982
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
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
Infectious encephalitis, Recurrent pharyngitis ORPHA:99825
Neurocutaneous Melanocytosis
Infectious encephalitis, Abnormality of neuronal migration ORPHA:2481
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
New-Onset Refractory Status Epilepticus
Global brain atrophy, Infectious encephalitis ORPHA:363558
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Primary testicular failure, Hypogonadism, Abnormal testis morpholog... ORPHA:85450
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Adrenoleukodystrophy
Primary adrenal insufficiency, Neurodegeneration, Impotence, Hypogonadism OMIM:300100
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Reduced sperm motility, Recurrent sinusitis, Recurrent otitis media, Chronic rhin... OMIM:608647
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Cerebral cortical atrophy, Decreased response to growth ho... ORPHA:273
Brucellosis
Sacroiliac arthritis, Septic arthritis, Endocarditis, Myocarditis, Osteomyelitis, Hip osteoarthri... ORPHA:1304
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Lyme Disease
Arthritis, Infectious encephalitis, Meningitis, Uveitis ORPHA:91546
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:300845
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Increased circulating gonadotropin level, Meni... ORPHA:759
Scrub Typhus
Skin rash, Meningitis, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility, Recurrent infections, Bronchiectasis OMIM:615434
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Spastic Paraplegia Type 7
Cerebellar atrophy, Cerebral cortical atrophy, Abnormal mitochondrial morphology ORPHA:99013
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Diffuse cerebral atrophy, Recurrent pneumonia, Cryptorchidism, Cerebellar atrophy,... OMIM:214150
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... ORPHA:139402
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism ORPHA:2067
Legionnaires Disease
Endocarditis, Hepatitis, Recurrent pharyngitis, Pericarditis, Infectious encephalitis, Myocarditi... ORPHA:549
Avian Influenza
Conjunctivitis, Myelitis, Hepatitis, Meningitis, Infectious encephalitis, Pneumonia ORPHA:454836
Bloom Syndrome
Severe varicella zoster infection, Rhinitis, Recurrent urinary tract infections, Premature ovaria... ORPHA:125
Congenital Enterovirus Infection
Hepatitis, Skin rash, Meningitis, Infectious encephalitis, Myocarditis ORPHA:292
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy OMIM:619518
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Alexander Disease
Hypothyroidism, Infectious encephalitis, Precocious puberty, Diabetes mellitus ORPHA:58
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Recurrent respiratory infections, Increased mitoc... OMIM:619063
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Abnormal mitochondrial mo... ORPHA:275872
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
American Trypanosomiasis
Skin rash, Infectious encephalitis, Myocarditis ORPHA:3386
Lymphoproliferative Syndrome 2
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Uveitis, Recurrent pne... OMIM:615122
Familial Hemophagocytic Lymphohistiocytosis
Erythroderma, Skin rash, Colitis, Infectious encephalitis, Maculopapular exanthema ORPHA:540
Listeriosis
Endocarditis, Septic arthritis, Myocarditis, Brain abscess, Osteomyelitis, Infectious encephaliti... ORPHA:533
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Meningococcal Meningitis
Skin rash, Infectious encephalitis ORPHA:33475
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Diaminopentanuria
Neurodegeneration OMIM:222350
Reynolds Syndrome
Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis ORPHA:779
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Recurrent sinopulmon... ORPHA:244
Q Fever
Endocarditis, Myocarditis, Maculopapular exanthema, Osteomyelitis, Hepatitis, Pericarditis, Unusu... ORPHA:781
Zygomycosis
Endocarditis, Brain abscess, Enterocolitis, Invasive fungal infection, Hepatitis, Fasciitis, Peri... ORPHA:73263
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... ORPHA:361
Nocardiosis
Lymphadenitis, Endocarditis, Conjunctivitis, Brain abscess, Osteomyelitis, Severe infection, Scle... ORPHA:31204
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Diabetes mellitus, Breast hypoplasia, Clitoral hypoplasia OMIM:614813
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Incontinentia Pigmenti
Cerebral cortical atrophy, Skin rash, Supernumerary nipple, Uveitis, Keratitis, Infectious enceph... ORPHA:464
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Reduced progressive sperm motility, Chronic sinusitis OMIM:619608
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Infectious encephalitis, Meningitis OMIM:603553
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis, Thyroiditis, Ecze... ORPHA:391487
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... ORPHA:1772
Hemophagocytic Lymphohistiocytosis, Familial, 1
Infectious encephalitis, Meningitis OMIM:267700
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Hypogonadism, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogon... ORPHA:251066
Poliomyelitis
Infectious encephalitis, Myelitis, Meningitis ORPHA:2912
Japanese Encephalitis
Infectious encephalitis, Meningitis, Inappropriate antidiuretic hormone secretion ORPHA:79139
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Cerebral cortical atrophy, Atretic vas deferens, Bicornuate uterus, Reduce... OMIM:137920
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Pustule, Myocardial necrosis, Sinusitis, Abnormality of the adrenal gland... ORPHA:68
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Abnormal mitochondrial shape, Diffuse cerebral atrophy, Cerebellar atrophy, ... ORPHA:543470
Coccidioidomycosis
Invasive fungal infection, Osteomyelitis, Folliculitis, Abnormality of the male genitalia, Skin r... ORPHA:228123
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Hepatitis, Sclerosing cholangitis, Stomatitis... OMIM:308230
Acute Disseminated Encephalomyelitis
Severe Epstein Barr virus infection, Herpes simplex encephalitis, Myelitis, Post-vaccination meas... ORPHA:83597
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... ORPHA:300298
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Scedosporiosis
Endocarditis, Septic arthritis, Opportunistic fungal infection, Osteomyelitis, Invasive fungal in... ORPHA:449280
H Syndrome
Hypogonadism, Bronchiectasis, Decreased testicular size, Azoospermia, Recurrent pharyngitis, Chro... ORPHA:168569
Rift Valley Fever
Hepatitis, Skin rash, Severe viral infection, Uveitis, Infectious encephalitis ORPHA:319251
Melioidosis
Septic arthritis, Brain abscess, Prostatitis, Abnormal parotid gland morphology, Hepatitis, Cutan... ORPHA:31202
Tetrasomy 9P
Absent gallbladder, Recurrent urinary tract infections, Arthritis, Infertility, Lissencephaly, Pe... ORPHA:3310
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... ORPHA:331235
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neurodegeneration OMIM:612319
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty, Recurrent otitis media, Recurrent infections, Recurrent respi... OMIM:619950
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... ORPHA:293987
Chikungunya
Crusting erythematous dermatitis, Enthesitis, Skin rash, Arthritis, Synovitis, Erythema nodosum, ... ORPHA:324625
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Abnormal mitochondrial shape, Decreased activity of mitochondrial compl... ORPHA:17
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral cortical atrophy, Neurodegeneration, Cerebral atrophy OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... OMIM:500013
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Menin... OMIM:614379
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Impotence, Decreased serum estradiol, ... ORPHA:91355
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Reduced sperm motility, Pyelonephritis, Pit... ORPHA:730
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Herpes simplex encephalitis, Acne inversa, Recurrent upper respira... OMIM:233600
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Proteus Syndrome
Macroorchidism, Gray matter heterotopia, Neoplasm of the thymus, Diabetes insipidus, Enlarged pol... ORPHA:744
Bloom Syndrome
Decreased fertility in females, Malar rash, Bronchiectasis, Type II diabetes mellitus, Azoospermi... OMIM:210900
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Purulent rhinitis, Arthritis, Meningitis, Oti... OMIM:601457
Isolated Agammaglobulinemia
Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recu... ORPHA:229717
Diphallia
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... ORPHA:227
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Meningitis, Onychomycosis OMIM:212050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Decreased activity of mitochondrial complex III, Cerebral atrophy, Cer... OMIM:615157
Barth Syndrome
Recurrent bronchitis, Recurrent infections in infancy and early childhood, Abnormal mitochondrial... OMIM:302060
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Decreased activity of mitochondrial complex IV, Cerebell... OMIM:616239
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Neurodegeneration, A... ORPHA:391428
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Meningitis, Orchitis, Peritonitis OMIM:249100
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection, Maternal diabetes ORPHA:464370
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Tularemia
Conjunctivitis, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, ... ORPHA:3392
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Meningitis, Recur... ORPHA:33110
Thymic Aplasia
Hypothyroidism, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, ... ORPHA:83471
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Impotence OMIM:146500
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, Bronchiectasis, Recurren... OMIM:208900
Cysticercosis
Infectious encephalitis, Iridocyclitis ORPHA:1560
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Aspartylglucosaminuria
Macroorchidism, Recurrent respiratory infections, Cerebral atrophy, Acne OMIM:208400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Cerebral atrophy, Neurodegeneration, Premature pubarche OMIM:616878
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Cryptococcosis
Cerebral cortical atrophy, Osteomyelitis, Prostatitis, Meningitis, Peritonitis, Pneumonia ORPHA:1546
Familial Mediterranean Fever
Skin rash, Arthritis, Erysipelas, Pericarditis, Meningitis, Orchitis, Peritonitis, Pancreatitis, ... ORPHA:342
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Abnormal mitochondrial shape, Cerebral atrophy ORPHA:412217
Nijmegen Breakage Syndrome
Bronchiectasis, Recurrent urinary tract infections, Premature ovarian insufficiency, Recurrent br... OMIM:251260
Immunodeficiency 46
Conjunctivitis, Meningitis, Chronic oral candidiasis, Recurrent sinopulmonary infections OMIM:616740
Leukocyte Adhesion Deficiency
Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Hyperinsulinemic hypoglycemia, ... ORPHA:2968
Aspartylglucosaminuria
Macroorchidism, Recurrent respiratory infections, Chronic otitis media, Arthritis ORPHA:93
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling ORPHA:397744
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Decreased activity of mitochondrial complex III, Diffuse cerebellar atrophy... ORPHA:478029
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal mitochondrial shape ORPHA:485421
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous abscess forma... ORPHA:47
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Hypothyroidism, Diabetes mellitus, Increased mitochondrial number ORPHA:263297
Granulomatosis With Polyangiitis
Diabetes insipidus, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, In... ORPHA:900
Whim Syndrome
Lymphadenitis, Bronchiectasis, Severe periodontitis, Recurrent pneumonia, Recurrent bacterial inf... ORPHA:51636
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:256600
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cyst, Paraganglioma, Pap... OMIM:193300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Meningitis, Coliti... ORPHA:37042
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Periventricular heterotopia OMIM:618476
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Fusariosis
Onychomycosis, Maculopapular exanthema, Brain abscess, Osteomyelitis, Invasive fungal infection, ... ORPHA:228119
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia OMIM:615561
Wiskott-Aldrich Syndrome
Conjunctivitis, Hypoplasia of the thymus, Arthritis, Abnormality of the menstrual cycle, Eczema, ... ORPHA:906
Acute Transverse Myelitis
Extrapulmonary tuberculosis, Invasive parasitic infection, Priapism, Severe viral infection, Meni... ORPHA:139417
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Von Hippel-Lindau Disease
Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... ORPHA:892
Autoinflammation With Infantile Enterocolitis
Skin rash, Enterocolitis, Meningitis OMIM:616050
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Follicular Lymphoma
Meningitis ORPHA:545
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Abnormality of the anterior pituitary, Sialadenitis,... ORPHA:449395
Complement Factor I Deficiency
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... OMIM:610984
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Skin rash, Inflammatory abnormality of the eye, Arthritis, Uveitis, Recurrent bac... ORPHA:36412
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Cinca Syndrome
Skin rash, Meningitis, Uveitis, Arthritis OMIM:607115
Alström Syndrome
Recurrent sinusitis, Oligospermia, Glomerulonephritis, Decreased circulating T4 concentration, Re... ORPHA:64
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Recurrent pharyngitis, Pericarditis, Meningitis, Myocarditis ORPHA:829
Rat-Bite Fever
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Maculopapular exanthema, Erythema ... ORPHA:31205
Floating-Harbor Syndrome
Congenital posterior urethral valve, Recurrent otitis media, Epididymal cyst, Hypospadias, Varico... OMIM:136140
Cinca Syndrome
Inflammatory abnormality of the eye, Meningitis, Uveitis, Retrobulbar optic neuritis ORPHA:1451
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent bacterial infections, Meningitis, Recurrent viral i... ORPHA:169090
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Neurodegeneration, Recurrent otitis media OMIM:309900
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Recurrent otitis media, Neurodegeneration OMIM:253220
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Neurodegeneration, Cerebral atrophy OMIM:618321
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy ORPHA:309246
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Arthritis, Vaginal dryn... ORPHA:289390
Hurler Syndrome
Recurrent respiratory infections, Neurodegeneration, Recurrent otitis media OMIM:607014
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Recurrent ear infections, Osteomyelitis, Bifid scrotum, Hypospadias, Delayed puberty, Otitis medi... OMIM:619475
Mixed Connective Tissue Disease
Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Meningitis, ... ORPHA:809
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Periodontitis, Recur... OMIM:214500
Angiostrongyliasis
Unusual CNS infection, Meningitis ORPHA:74
Immunodeficiency 68
Lymphadenitis, Septic arthritis, Recurrent meningitis, Recurrent skin infections OMIM:612260
Primrose Syndrome
Hypothyroidism, Bilateral cryptorchidism, Diabetes mellitus, Delayed puberty, Hypergonadotropic h... OMIM:259050
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy OMIM:272750
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration OMIM:606159
Giant Cell Arteritis
Diabetes insipidus, Arthritis, Recurrent pharyngitis, Pericarditis, Meningitis ORPHA:397
Floating-Harbor Syndrome
Precocious puberty, Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele... ORPHA:2044
Chronic Granulomatous Disease
Inflammatory abnormality of the eye, Eczema, Meningitis, Sinusitis, Otitis media, Recurrent respi... ORPHA:379
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610217
Progressive Multifocal Leukoencephalopathy
Meningitis ORPHA:217260
Arachnoiditis
Meningitis ORPHA:137817
Sepsis In Premature Infants
Enterocolitis, Meningitis, Severe infection, Disseminated viral infection ORPHA:90051
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration OMIM:614298
Tick-Borne Encephalitis
Unusual CNS infection, Myelitis, Meningitis ORPHA:297
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Myocarditis, Brain abscess, Severe infection, Severe viral infection, Diabetes ... ORPHA:544482
Hydranencephaly
Atrophic pituitary gland, Cerebral cortical atrophy, Meningitis ORPHA:2177
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Meningitis, Pneumonia, Recu... OMIM:600802
Kawasaki Disease
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Recurrent pharyngitis, Pericarditis, Cholecystit... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Inflammation of the large intestine, Colonic eosinophilia, Recurrent pneumonia, Mening... OMIM:617718
Trichinellosis
Conjunctivitis, Skin rash, Meningitis ORPHA:863
Wiskott-Aldrich Syndrome
Recurrent meningitis, Ulcerative colitis, Recurrent otitis media, Eczema, Recurrent sinusitis, In... OMIM:301000
Kikuchi-Fujimoto Disease
Malar rash, Enlargement of parotid gland, Skin rash, Pustule, Meningitis, Myocarditis ORPHA:50918
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Cerebral degeneration, Neurodegeneration OMIM:234200
Plague
Lymphadenitis, Endocarditis, Enterocolitis, Erythema nodosum, Skin rash, Inflammatory abnormality... ORPHA:707
Leptospirosis
Hepatitis, Skin rash, Uveitis, Pericarditis, 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

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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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