Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
relaxin/insulin-like family peptide receptor 1
Synonyms:
LOC381489,  Lgr7

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rxfp1 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 Rxfp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Gynecomastia, Decreased testicular size, Male infertility, Prim... ORPHA:98797
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gynecomastia, Gonadal tissue inappropriate for external genital... ORPHA:98798
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Gynecomastia, Primary amenorrhea, Hypogona... OMIM:614837
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency, Pulmonary fibrosis OMIM:617175
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Hypohidrosis, Breast hypoplasia OMIM:129550
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypogonadism, Male
Male hypogonadism, Gynecomastia, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Premature graying of hair, Pulmonary fibrosis OMIM:616371
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Gynecomastia, Perin... OMIM:312300
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Hypoplastic areola, Absent nipple, Choanal atresia, Aplasia/Hypoplasia of the nipples, Aplasia/Hy... OMIM:113700
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic nipples, Absent nipple, Anteverted nares, Broad nasal tip OMIM:616001
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic areola, Hypogonadism, Sparse hair, Hypoplastic nipples OMIM:273400
Pulmonary Hemosiderosis
Hemoptysis, Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Gynecomastia, Primary amenorrhea, Sparse axillary hair, Sparse pubic... OMIM:146110
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Sparse facial hair, Gynecomastia, Absent facial hair... ORPHA:2183
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Young Syndrome
Azoospermia OMIM:279000
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Partial Androgen Insensitivity Syndrome
Abnormality of secondary sexual hair, Gynecomastia, Clitoral hypertrophy, Male infertility, Micro... ORPHA:90797
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Gynecomastia, Increased female libido, Delayed puberty, Second... ORPHA:432
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Kennedy Disease
Erectile dysfunction, Gynecomastia, Testicular atrophy, Type II diabetes mellitus, Decreased fert... ORPHA:481
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Hypoplastic nipples, Sparse scalp hair, Xerostomia, Sparse lateral ey... OMIM:614941
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Gynecomastia, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty,... ORPHA:251510
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Male infertility, Precocious ... ORPHA:3000
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Cerebellar Ataxia-Hypogonadism Syndrome
Gynecomastia, Hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility, Supernumerary nip... ORPHA:1173
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis, Alopecia, Pulmonary fibrosis OMIM:615704
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Low posterior hairline, Azoospermia ORPHA:2578
Pulmonary Fibrosis, Idiopathic
Alveolar cell carcinoma, Usual interstitial pneumonia, Elevated bronchoalveolar lavage fluid neut... OMIM:178500
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Chronic Beryllium Disease
Ground-glass opacification, Pulmonary fibrosis, Reticulonodular pattern on pulmonary HRCT, Abnorm... ORPHA:133
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Pulmonary fibrosis, Abnormality of secondary sexual hai... ORPHA:243
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Cryptorchidism, Bifid scrotum, Chordee, Hypothyroidism, Hypoplastic nipples, Wide intermamillary ... OMIM:300519
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Labial h... OMIM:211370
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Hypoplastic nipples, Hypospadias, External genital hypoplasia OMIM:177980
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Absent axillary hair, Breast aplasia, Hypoplastic nipp... ORPHA:3138
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Scarf Syndrome
Cryptorchidism, Sparse hair, Bifid scrotum, Hypoplastic nipples, Perineal hypospadias, Wide inter... ORPHA:3134
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Gynecomasti... OMIM:400045
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Hypothyroidism, Gynecomastia, Female external genitalia in individual with 46,XY kar... OMIM:264300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Hirsutism, Gynecomasti... ORPHA:90791
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Sparse hair, Bifid scrotum, Hypoplastic nipples, Perineal ... OMIM:312830
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:612387
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Low anterior hairline, Highly arched eyebrow, Sparse hair, Hypoplastic nipples, S... OMIM:608156
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Irregular menstruation, Absent eyebrow, Sparse scalp hair, Spa... ORPHA:1809
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Gynecomastia, Decreased fertility OMIM:313200
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Adult Syndrome
Absent nipple, Breast hypoplasia, Wide nasal bridge, Hypoplastic nipples, Sparse scalp hair, Alop... ORPHA:978
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Ground-glass opacification, Type II pneumocyte hyperplasia, Intraalveol... OMIM:610913
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Premature graying of hair, Hypergonadotropic hypogonadism, Delayed puberty, Decrease... ORPHA:280679
Barber-Say Syndrome
Absent nipple, Hypoplastic nipples, Sparse and thin eyebrow, Abnormality of male external genital... OMIM:209885
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Alopecia, Hypogonadotropic hypogonadism, ... OMIM:235200
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Anhidrosis OMIM:614940
Hereditary Mucoepithelial Dysplasia
Sparse hair, Pulmonary fibrosis, Recurrent respiratory infections, Alopecia, Tracheoesophageal fi... ORPHA:1839
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Premature graying of hair, Pulmonary fibrosis OMIM:614743
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Interlobular septal thickening, Bronchiectas... ORPHA:79126
Barber-Say Syndrome
Breast aplasia, Hypoplastic nipples, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebro... ORPHA:1231
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT ORPHA:60026
Hermansky-Pudlak Syndrome 4
Menorrhagia, Albinism, Pulmonary fibrosis OMIM:614073
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Aplasia of the ovary, Hypergonadotropic hypogonadism, Sparse fac... ORPHA:2232
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pul... OMIM:614742
Cystic Fibrosis
Recurrent respiratory infections, Exocrine pancreatic insufficiency, Pulmonary fibrosis ORPHA:586
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Limb-Mammary Syndrome
Sparse eyebrow, Aplasia of the ovary, Absent nipple, Bilateral breast hypoplasia, Breast aplasia,... ORPHA:69085
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Gynecomastia, Abnormality of th... ORPHA:752
Sialuria
Synophrys, Wide nasal bridge, Hypoplastic nipples, Generalized hirsutism, Low posterior hairline OMIM:269921
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Gonadotropin deficiency, Ground-glass opacification, Pulmonary fibros... OMIM:610978
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypoplastic nipples, Cryptorchidism OMIM:618505
Adult Syndrome
Absent nipple, Breast hypoplasia, Sparse axillary hair, Fair hair, Hypoplastic nipples, Alopecia ... OMIM:103285
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Premature graying of hair, Hypergonadotropic hypogonadism, Decreased testicular size... OMIM:300845
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Aspergillosis
Ground-glass opacification, Abnormal sputum, Pleuritis, Bronchiectasis, Pulmonary fibrosis, Paren... ORPHA:1163
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Absent nipple, Sparse hair, Absent eyelashes, Underdeveloped nasal alae, Short nose... OMIM:305100
Braddock Syndrome
Wide intermamillary distance, Abnormal hair pattern, Laryngeal web, Pulmonary fibrosis ORPHA:52047
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Hypergonadotropic hypogonadism, Gynecomastia, Type II d... ORPHA:10
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Trichoodontoonychial Dysplasia With Bone Deficiency
Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance, Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:2437
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... OMIM:400044
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Wide intermamillary distance, Depressed nasal bridge OMIM:156610
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Sparse hair ORPHA:1433
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Gynecomastia, Abnormal internal genitalia, Delayed puberty, Epispadias, ... ORPHA:1772
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Transverse vaginal septum, Sparse axillary hair, Decreased response to growth hor... OMIM:604292
Immunodeficiency 60
Pulmonary infiltrates, Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis OMIM:618394
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Incontinentia Pigmenti
Sparse hair, Breast hypoplasia, Coarse hair, Breast aplasia, Hypoplastic nipples, Supernumerary n... OMIM:308300
Gapo Syndrome
Sparse eyebrow, Sparse hair, Breast hypoplasia, Hypoplastic nipples, Depressed nasal bridge, Alop... OMIM:230740
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Pneumonia, Pleural empyema, Apical pulmonary opacity, Sinusitis, B... ORPHA:449280
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Galactorrhea, Delayed puberty, De... ORPHA:91348
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Pulmonary fibrosis, Decreased response to growth hormone stimuation test ORPHA:457240
Becker Nevus Syndrome
Hypoplastic labia minora, Supernumerary nipple, Aplasia/Hypoplasia of the breasts, Abnormality of... ORPHA:64755
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Woods Syndrome
Supernumerary nipple, Frontal hirsutism, Wide nasal bridge OMIM:615236
Trichohepatoneurodevelopmental Syndrome
Bulbous nose, Curly hair, Coarse hair, Cholelithiasis, Synophrys, Hypoplastic nipples, Hypertrich... OMIM:618268
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Supernumerary nipple, Precocious puberty OMIM:619243
Ulnar-Mammary Syndrome
Imperforate hymen, Breast hypoplasia, Axillary apocrine gland hypoplasia, Sparse axillary hair, E... OMIM:181450
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Cryptorchidism, Hypoplastic nipples, Hypospadias OMIM:265000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Sparse hair, Transverse vaginal septum, Sparse axillary hair, Decreased response ... OMIM:129900
48,Xxxy Syndrome
Infertility, Cryptorchidism, Azoospermia, Scrotal hypoplasia, Gynecomastia, Type II diabetes mell... ORPHA:96263
Cornelia De Lange Syndrome 1
Cryptorchidism, Highly arched eyebrow, Hirsutism, Long eyelashes, Synophrys, Hypoplastic nipples,... OMIM:122470
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Sparse hair, Peripheral pulmonary artery stenosis, Wide nasal bridge, Hypoplastic nipples, Low-se... OMIM:280000
21Q22.11Q22.12 Microdeletion Syndrome
Hypoplastic nipples, Anteverted nares, Bulbous nose, Nail dystrophy ORPHA:261323
Antisynthetase Syndrome
Abnormal pulmonary interstitial morphology, Xerostomia, Recurrent respiratory infections, Pulmona... ORPHA:81
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Xerostomia, Pulmonary infiltrates, Pulmonary fibrosis ORPHA:220393
49,Xxxxy Syndrome
Infertility, Cryptorchidism, Azoospermia, Scrotal hypoplasia, Gynecomastia, Type II diabetes mell... ORPHA:96264
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, He... ORPHA:90060
Schinzel-Giedion Midface Retraction Syndrome
Scrotal hypoplasia, Splenopancreatic fusion, Hypoplastic nipples, Hypoplastic labia majora, Bicor... OMIM:269150
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... OMIM:616414
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Sparse hair, Bifid scrotum, Sparse lateral eyebrow, Sparse or absent eyelashes, H... ORPHA:217346
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Pulmonary fibrosis, Recurrent sinusitis, Chronic bronchitis, Recurrent pneumonia,... OMIM:618986
Chitayat Syndrome
Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia, Anteverted nares, Rec... OMIM:617180
Felty Syndrome
Pleuritis, Pulmonary fibrosis, Sinusitis, Recurrent pneumonia, Recurrent pharyngitis, Recurrent r... ORPHA:47612
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Hypertrichosis, Type II diabetes mel... OMIM:210900
Mixed Connective Tissue Disease
Pleuritis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Xerostomia, Alopecia ORPHA:809
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dystrophy, Premature graying of hair, Pulmonary fibrosis OMIM:613989
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Ambiguous genitalia, Wide intermamillary distance OMIM:269860
Tyshchenko Syndrome
Cryptorchidism, Supernumerary nipple, Low anterior hairline, Thick hair OMIM:615102
H Syndrome
Abnormal eyebrow morphology, Azoospermia, Amenorrhea, Gynecomastia, Delayed puberty, Hypertrichos... ORPHA:168569
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Polymyositis
Abnormal pulmonary interstitial morphology, Breast carcinoma, Pulmonary fibrosis ORPHA:732
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypogonadism, Ab... ORPHA:251066
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Premature graying of hair, Interstitial pneumonitis, Pulmonary fibrosis, Alopecia, N... OMIM:127550
Hermansky-Pudlak Syndrome 1
Albinism, Abnormal hair morphology, Pulmonary fibrosis OMIM:203300
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Sparse hair, Nail dystrophy, Pulmonary fibrosis OMIM:615934
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Pulmonary fibrosis, Elevated circulating thyroid-stimulating hormone ... ORPHA:209905
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Galactorr... ORPHA:91351
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Recurrent upper respiratory trac... OMIM:613101
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Carpenter Syndrome 2
Cryptorchidism, Highly arched eyebrow, Hypoplastic nipples, Sparse and thin eyebrow, Shawl scrotu... OMIM:614976
Fontaine Progeroid Syndrome
Cryptorchidism, Low anterior hairline, Absent nipple, Scrotal hypoplasia, Coarse hair, Synophrys,... OMIM:612289
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusiti... OMIM:615518
Cornelia De Lange Syndrome
Cryptorchidism, Curly eyelashes, Abnormality of the uterus, Highly arched eyebrow, Low anterior h... ORPHA:199
Ring Chromosome 22 Syndrome
Thick eyebrow, Azoospermia ORPHA:1446
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias, Supernumerary nipple, Alopecia ORPHA:3224
Acute Lung Injury
Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemor... ORPHA:178320
Myotonic Dystrophy 1
Frontal balding, Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Pleural effusion, Pulmonary fibrosis, Acute pancreatitis OMIM:618935
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, External genital hypoplasia, Hypoplastic nipples, Frontal hirsutism, Inverted nip... ORPHA:96334
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... OMIM:265450
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Congenital hypothyroidism, Supernumerary nipple, Micropenis ORPHA:2519
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Absent eyelashes, Patchy alopecia, Sparse body hair, Hypospadias, Supernumerary ... OMIM:106260
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... OMIM:263000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Abnormal pulmonary interstitial morphology, Hypothyroidism, Hypopituitarism OMIM:619013
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Alopecia, Fine hair OMIM:613990
Filippi Syndrome
Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge, Supernumerary nipple, Prominent nas... ORPHA:3255
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Frontal balding, Elevated circulating follicle stimulating hormone le... OMIM:602668
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Scleroderma
Abnormal pulmonary interstitial morphology, Hypohidrosis, Alopecia, Pulmonary fibrosis ORPHA:801
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pulmonary fibrosis, Nail dystrophy, Sparse eyelashes OMIM:224230
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Cryptorchidism, Hypothyroidism, Septate vagina, Fair hair, Hypoplastic ni... OMIM:243800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Low posterior hairline, Synophrys, Supernumerary nipple, Micropenis OMIM:618929
Focal Dermal Hypoplasia
Cryptorchidism, Sparse hair, Clitoral hypoplasia, Hypoplastic nipples, Patchy alopecia, Brittle h... OMIM:305600
2P15P16.1 Microdeletion Syndrome
Gynecomastia, Long eyelashes, Sparse and thin eyebrow, Decreased testicular size, Hypogonadism, S... ORPHA:261349
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Trisomy 12P
Thick eyebrow, Supernumerary nipple, Short nose, Wide nasal bridge ORPHA:1699
Erdheim-Chester Disease
Pulmonary fibrosis, Pleural effusion, Abnormal pulmonary interstitial morphology, Hyperhidrosis, ... ORPHA:35687
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Glandular hypospadias, Low anterior hairline, Supernumerary nipple, Shawl scrotum, Long eyelashes... OMIM:604314
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Underdeveloped nasal alae, Tracheomalacia, Laryngomalacia, Sparse scalp ha... ORPHA:1001
Hermansky-Pudlak Syndrome 2
Albinism, Pulmonary fibrosis, Wide nasal bridge, Fair hair, Recurrent pneumonia OMIM:608233
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Cryptorchidism, Chordee, Synophrys, Supernumerary nipple OMIM:616728
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypohidrosis, Short nose, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Supe... ORPHA:1812
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Wide nasal bridge, Depressed nasal bridge OMIM:104350
Riddle Syndrome
Chronic sinusitis, Pulmonary fibrosis, Recurrent sinusitis, Pneumonia, Abnormal pulmonary interst... ORPHA:420741
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Menometrorrhagia, Pulmonary fibrosis ORPHA:79430
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple OMIM:617339
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Bronchiectasis, ... ORPHA:244
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Recurrent aspiration pneumonia, Recurrent respiratory infections, Pulmonary... ORPHA:79124
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnorm... OMIM:181000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Sparse eyebrow, Abnormal reproductive system morphology, Supernumerary nipple, Apla... ORPHA:1521
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypoplastic nipples, Hypospadias, Anteriorly displaced genita... OMIM:276820
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Bronchiolitis obliterans, Depressed nasal bridge OMIM:617241
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Supernumerary nipple, Micropenis, Hypospadias OMIM:141750
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Sparse eyebrow, Chordee, High anterior hairline, Synophrys, Sparse scalp hair, Hy... ORPHA:477993
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Hypohidrosis, Alopecia, Pulmonary fibrosis ORPHA:90291
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple, Anteverted nares OMIM:619122
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Gynecomastia, Testicular atrophy, ... ORPHA:465508
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Sho... OMIM:618454
Char Syndrome
Supernumerary nipple, Depressed nasal bridge ORPHA:46627
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Interstitial pne... OMIM:615952
Acrorenal-Mandibular Syndrome
Absent nipple, Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Abnormality of the breast OMIM:200980
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pulmonary fibrosis OMIM:612852
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Gynecomastia, Alopecia of scalp, Pancreatic hypoplas... OMIM:602782
Thymoma
Thyroiditis, Abnormal pleura morphology, Abnormal pulmonary interstitial morphology, Xerostomia, ... ORPHA:99867
Dermatomyositis
Abnormal hair quantity, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Breast ca... ORPHA:221
Granulomatosis With Polyangiitis
Prostatitis, Pleuritis, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Pancreatitis, Si... ORPHA:900
Reactive Arthritis
Dystrophic fingernails, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:29207
Kleefstra Syndrome
Cryptorchidism, Highly arched eyebrow, Synophrys, Hypoplasia of penis, Hypospadias, Supernumerary... ORPHA:261494
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Recurrent upper and lower respiratory tract infections, Curly hair, Choanal atresia, Wide nasal b... ORPHA:480880
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary nipple, Micropenis OMIM:263750
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Misalignment of the pulmonar... OMIM:265120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Autoimmune Lymphoproliferative Syndrome
Pulmonary fibrosis, Thyroiditis, Panniculitis, Fibroadenoma of the breast, Pulmonary infiltrates,... ORPHA:3261
Bloom Syndrome
Azoospermia, Oligospermia, Neoplasm of the breast, Patchy alopecia, Diabetes mellitus, Male infer... ORPHA:125
Juvenile Dermatomyositis
Alopecia, Pulmonary fibrosis ORPHA:93672
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Low anterior hairline, Highly arched eyebrow, Supernumerary nipple, Poliosis, Long eyelashes, Syn... OMIM:213980
Bohring-Opitz Syndrome
Low anterior hairline, Thick hair, Hyperechogenic pancreas, Hirsutism, Wide nasal bridge, Wide in... OMIM:605039
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmonary edema ORPHA:330001
Typhoid
Abnormal pulmonary interstitial morphology ORPHA:99745
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Pneumoni... ORPHA:97287
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Hyperhidrosis, Alopecia, Decreased... OMIM:305000
Yunis-Varon Syndrome
Cryptorchidism, Absent nipple, Sparse scalp hair, Sparse and thin eyebrow, Hypospadias, Micropeni... OMIM:216340
Branchioskeletogenital Syndrome
Highly arched eyebrow, Absent nipple, Synophrys, Penoscrotal hypospadias, Absent external genital... ORPHA:1299
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypohidrosis, Sparse hair, Coarse hair, Wide nasal bridge, Sparse and thin eyebrow, Dystrophic to... ORPHA:1071
Sarcoidosis
Enlarged lacrimal glands, Abnormal lung morphology, Bronchiectasis, Pulmonary fibrosis, Hypothyro... ORPHA:797
Fusariosis
Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bronchiectasis, P... ORPHA:228119
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Albinism, Recurrent respiratory infections OMIM:617050
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Hypothyroidism, Intraalveolar phospholipid accumulation OMIM:615486
Al Amyloidosis
Autonomic erectile dysfunction, Abnormal salivary gland morphology, Abnormal pulmonary interstiti... ORPHA:85443
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
3Mc Syndrome
Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism ORPHA:293843
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Bulbous nose, Wide nasal bridge, Supernumerary nipple, Prominent nasal bridge ORPHA:247262
Autoimmune Polyendocrinopathy Type 3
Graves disease, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Hashimoto thyroidi... ORPHA:227982
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary interstitial lymphocyte infiltration, Thyroiditis, Hypothyroidism, Alopecia universalis... OMIM:606367
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Widow's peak, Bilateral cryptorch... OMIM:305400
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Idiopathic Hypereosinophilic Syndrome
Pleural effusion, Pulmonary infiltrates, Pancreatitis, Pulmonary fibrosis ORPHA:3260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Azoospermia, Cholelithiasis, Pulmonary fibrosis ORPHA:2072
Autoimmune Polyendocrinopathy Type 4
Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Abnormal pulmonary interstitial mo... ORPHA:227990
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Short nose ORPHA:457279
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Reduced sperm motility, Hypoplasia of the uterus, Epididyma... OMIM:137920
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Supernumerary nipple, Wide intermamillary distance ORPHA:397715
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Cryptorchidism, Supernumerary nipple, Micropenis OMIM:618653
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Pulmonary infiltrates OMIM:230800
Gaucher Disease
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:355
Bannayan-Riley-Ruvalcaba syndrome
Supernumerary nipple, Hashimoto thyroiditis, Long penis OMIM:153480
Pitt-Hopkins Syndrome
Cryptorchidism, Supernumerary nipple, Micropenis ORPHA:2896
Ataxia-Telangiectasia
Abnormal hair morphology, Female hypogonadism, Hypoplasia of the thymus, Delayed puberty, Diabete... OMIM:208900
Incontinentia Pigmenti
Abnormal hair morphology, Hyperhidrosis, Alopecia, Dystrophic toenail, Supernumerary nipple ORPHA:464
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Paraganglioma, Papillary cystadenoma of the ... OMIM:193300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cryptorchidism, Underdeveloped nasal alae, Hypothyroidism, Wide nasal bridge, Hyperhidrosis, Broa... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cryptorchidism, Underdeveloped nasal alae, Hypothyroidism, Wide nasal bridge, Hyperhidrosis, Broa... ORPHA:352665
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Cryptorchidism, High anterior hairline, Supernumerary nipple OMIM:619194
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Oculoectodermal Syndrome
Supernumerary nipple, Wide nasal bridge, Depressed nasal bridge OMIM:600268
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Gynecomastia, Recurrent respiratory infections, Sparse scalp hair, Abnormal pulmonary interstitia... OMIM:614748
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Cryptorchidism, Ambiguous genitalia, male, Hypospadias, Wide intermamillary distance, Supernumera... OMIM:218649
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hyperparathyroidism, Azoospermia, Abnormal calcium-phosphate regulating hormone l... ORPHA:534
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Supernumerary nipple, Pancreatic islet-cell hyp... ORPHA:373
Primary Sjögren Syndrome
Thyroiditis, Bronchitis, Abnormal pulmonary interstitial morphology, Xerostomia, Usual interstiti... ORPHA:289390
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology ORPHA:77259
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Bile duct proliferation OMIM:613658
Floating-Harbor Syndrome
Cryptorchidism, Hirsutism, Epididymal cyst, Long eyelashes, Congenital posterior urethral valve, ... OMIM:136140
Adams-Oliver Syndrome 1
Supernumerary nipple, Imperforate hymen, Alopecia OMIM:100300
3Mc Syndrome 1
Highly arched eyebrow, Supernumerary nipple OMIM:257920
Q Fever
Abnormal pulmonary interstitial morphology, Pleural effusion, Pneumonia ORPHA:781
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Sparse eyebrow, Abnormality of the Leydig cells, Synophrys, Testicular atrophy, H... ORPHA:3063
Brucellosis
Lung abscess, Pulmonary granulomatosis, Abnormal respiratory system morphology, Pleural effusion,... ORPHA:1304
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections ORPHA:77261
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Paragang... ORPHA:892
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Bilateral cryptorchidism, Anterior pituitary hypoplasia, Delayed puberty, Supernu... ORPHA:466791
Branchiooculofacial Syndrome
Cryptorchidism, Sparse hair, Premature graying of hair, Ectopic thymus tissue, Supernumerary nipp... OMIM:113620
Mowat-Wilson Syndrome
Cryptorchidism, Bifid scrotum, Broad eyebrow, Hypospadias, Supernumerary nipple OMIM:235730
Autoimmune Pulmonary Alveolar Proteinosis
Hemoptysis, Intraalveolar phospholipid accumulation, Abnormality of the upper respiratory tract, ... ORPHA:747
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Abnormal lung lobation, Short nose, Wide nasal bridge, Supernumerary nipple, Ante... OMIM:312870
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Aarskog Syndrome, Autosomal Dominant
Cryptorchidism, Widow's peak, Wide nasal bridge, Abnormal pulmonary interstitial morphology, Ante... OMIM:100050
Farber Disease
Recurrent upper respiratory tract infections, Abnormal larynx morphology, Nodular pattern on pulm... ORPHA:333
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Pleural effusion, Abnormal pulmonary interstitial morphology, Alopecia ORPHA:50918
Kawasaki Disease
Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Abnormality of nail color ORPHA:2331
Chronic Graft Versus Host Disease
Bronchiectasis, Pleural effusion, Xerostomia, Pneumothorax, Bronchiolitis obliterans, Alopecia, P... ORPHA:99921
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Sparse anterior scalp hair, Hypoplastic labia majora, Sparse and t... OMIM:601803
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Precocious pub... ORPHA:2044
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Cryptorchidism, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern... OMIM:130050
Niemann-Pick Disease Type B
Abnormal pulmonary interstitial morphology, Cholelithiasis ORPHA:77293
Cryptococcosis
Prostatitis, Pleural effusion, Pneumonia, Nodular pattern on pulmonary HRCT ORPHA:1546
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Pulmonary ... OMIM:233450
X-Linked Lymphoproliferative Disease
Pulmonary granulomatosis, Recurrent respiratory infections ORPHA:2442

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 Rxfp1

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 Rxfp1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Therapeutic effects of a small molecule agonist of the relaxin receptor ML290 in liver fibrosis. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2019) Rxfp1tm1a(EUCOMM)Hmgu PMC6988856
Conditional deletion of the relaxin receptor gene in cells of smooth muscle lineage affects lower reproductive tract in pregnant mice. Biology of reproduction (February 2015) Rxfp1tm1c(EUCOMM)Hmgu Rxfp1tm1a(EUCOMM)Hmgu PMC4643956

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MGI Allele Allele Type Produced
Rxfp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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