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Gene: Rxfp1 MGI:2682211

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter OMIM:617175
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Breast hypoplasia, Hypohidrosis OMIM:129550
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus st... OMIM:616001
Hypogonadism, Male
Hypospadias, Male hypogonadism, Micropenis, Testicular atrophy, Gynecomastia OMIM:241100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair, Honeycomb lung, Pulmonary fibrosis OMIM:616371
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Pulmonary fibrosis, Usual interstitial pneumonia OMIM:616373
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic areola, Hypogonadism, Sparse hair, Hypoplastic nipples OMIM:273400
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Idiopathic Pulmonary Fibrosis
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary fibrosis, R... ORPHA:2032
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... OMIM:113700
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti... OMIM:614941
Scarf Syndrome
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low posterior hairline, Perineal hyp... ORPHA:3134
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary fibrosis, Elevated bronchoalveol... OMIM:178500
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy, Gynecom... ORPHA:481
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... ORPHA:1173
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Pulmonary fibrosis OMIM:615704
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
Scarf Syndrome
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low anterior hairline, Low posterior... OMIM:312830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Martin-Probst Syndrome
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Chordee, Hypoplastic nipples, Microp... OMIM:300519
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Hypoplastic nipples, Ab... ORPHA:3138
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... ORPHA:3000
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypospadias, Hypoplastic nipples OMIM:177980
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Gynecomastia OMIM:313200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... OMIM:610921
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples OMIM:618505
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Hypothyroidism, Gynecomastia, Female external genitalia ... OMIM:264300
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... ORPHA:1809
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Chronic Beryllium Disease
Pulmonary fibrosis, Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonod... ORPHA:133
Ichthyosis With Confetti
Hypoplastic nipples, Hypertrichosis OMIM:609165
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... OMIM:612387
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Premature graying of hair, Pulmonary fibrosis OMIM:614743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Premature graying of hair, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Usual interst... OMIM:614742
Barber-Say Syndrome
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Generalized hirsu... ORPHA:1231
Nablus Mask-Like Facial Syndrome
Wide intermamillary distance, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorc... OMIM:608156
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... ORPHA:69085
Hermansky-Pudlak Syndrome 4
Menorrhagia, Pulmonary fibrosis, Albinism OMIM:614073
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair ORPHA:1839
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... OMIM:610913
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Adult Syndrome
Wide intermamillary distance, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, ... OMIM:103285
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Cryptorchidism, Micropenis, Hypoplastic nipples, High anterior hairline OMIM:615546
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:308700
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT ORPHA:60026
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia ORPHA:978
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Wide intermamillary distance, Hypogonadotropic hypogonadism, Crypt... ORPHA:432
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... OMIM:619611
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy, Pulmonary fibrosis OMIM:618165
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... OMIM:610978
Barber-Say Syndrome
Inverted nipples, Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hypoplastic la... OMIM:209885
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Emphysema OMIM:620365
Sialuria
Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism, Hirsutism OMIM:269921
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Thin eyebrow, Supernumerary nipple OMIM:617635
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Czeizel-Losonci Syndrome
Wide intermamillary distance, Pulmonary hypoplasia, Hypoplastic nipples ORPHA:2437
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Braddock Syndrome
Wide intermamillary distance, Pulmonary fibrosis, Abnormal hair pattern ORPHA:52047
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test, Pulmonary fibrosis ORPHA:457240
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Spar... OMIM:305100
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Premature graying of hair, Nail dystrophy, Pulmonary fibrosis OMIM:619767
Cornelia De Lange Syndrome 1
Hypospadias, Highly arched eyebrow, Curly eyelashes, Cryptorchidism, Synophrys, Low posterior hai... OMIM:122470
Incontinentia Pigmenti
Alopecia, Supernumerary nipple, Fine hair, Coarse hair, Breast aplasia, Hypoplastic nipples, Nail... OMIM:308300
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Aplasia/Hypoplasia of the breasts, Supernum... ORPHA:64755
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cryptorchidism, F... ORPHA:217346
Tyshchenko Syndrome
Cryptorchidism, Low anterior hairline, Thick hair, Supernumerary nipple OMIM:615102
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Decreased response to growth hormon... OMIM:604292
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Hypospadias, Hypoplastic nipples, Clitoral hypertrophy OMIM:614866
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Nodular pattern on pulmonary HRCT, Diffu... ORPHA:99931
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Pulmonary fibrosis, Abnormal pleura morphology ORPHA:210136
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... OMIM:129900
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Absence of labia majora, Hypospadias, Hypoplastic nipples OMIM:265000
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis OMIM:618394
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Skin Creases, Congenital Symmetric Circumferential, 1
Wide intermamillary distance, Hypoplastic nipples OMIM:156610
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Trichohepatoneurodevelopmental Syndrome
Curly hair, Woolly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Recurrent p... OMIM:618268
Tetraamelia Syndrome 2
Bilateral lung agenesis, Absent nipple, Hypoplastic pulmonary veins OMIM:618021
Aspergillosis
Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Pl... ORPHA:1163
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Sparse hair ORPHA:1433
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Ulnar-Mammary Syndrome
Inverted nipples, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Spar... OMIM:181450
Scedosporiosis
Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pleuritis ORPHA:449280
Antisynthetase Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Xerostomia, Pulmona... ORPHA:81
Mgat2-Cdg
Inverted nipples, Long eyelashes, Hypoplastic nipples, Recurrent upper and lower respiratory trac... ORPHA:79329
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages in bronchoalveolar flui... OMIM:616414
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
Alg9-Cdg
Inverted nipples, Low posterior hairline, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic... ORPHA:79328
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples OMIM:269860
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:607616
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary fibrosis, Recurr... OMIM:618986
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Xerostomia, Pulmonary fibrosis ORPHA:220393
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Low-set nipples, Fine hair, Hydrocele testis, Hypoplastic nipples, Sparse ... OMIM:280000
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia OMIM:230740
21Q22.11Q22.12 Microdeletion Syndrome
Nail dystrophy, Hypoplastic nipples ORPHA:261323
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline, Micropenis OMIM:618929
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Mixed Connective Tissue Disease
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pleuritis ORPHA:809
Polymyositis
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Breast carcinoma ORPHA:732
Carpenter Syndrome 2
Wide intermamillary distance, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidi... OMIM:614976
Felty Syndrome
Recurrent respiratory infections, Recurrent pharyngitis, Recurrent pneumonia, Pulmonary fibrosis,... ORPHA:47612
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Small scrotum, Cryptorchidism, Synophrys, Low anterior hairline... OMIM:612289
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr... ORPHA:199
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Acces Syndrome
Sparse scalp hair, Recurrent respiratory infections, Supernumerary nipple OMIM:619959
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Pulmonary fibrosis OMIM:619510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Recurrent respiratory infections, Nail dystrophy, Pulmonary fibrosis OMIM:615934
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis ORPHA:90060
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hypospadias, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst... OMIM:106260
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Supernumerary nipple, Highly arched eyebrow OMIM:619951
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Pulmonary fibrosis OMIM:613990
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Hypothyroidism, Aplasia/Hyp... ORPHA:1812
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Recurrent pneumonia, Ab... ORPHA:209905
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Recurre... OMIM:613101
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Pleural effusion, Recurrent pneumonia, Pulmonary fibrosis, Acute pancreatitis OMIM:618935
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ambiguous genitalia, Absent eyelashes, Hypoplastic labia majora, Hypoplastic nipp... OMIM:200110
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Subpleural interstitial th... ORPHA:79128
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... ORPHA:79127
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Sparse eyelashes, Nail dystrophy, Pulmonary fibrosis OMIM:224230
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectasis, Decrea... ORPHA:60025
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, White forelock, Nail dystrophy, Pulmonary fibrosis OMIM:613989
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism, Abnormal pulmonary interstitial morphology OMIM:619013
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu... OMIM:263000
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Interstitial pneumonitis, Nail dystrophy, Pulmonary fibrosis... OMIM:127550
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Pulmonary fibrosis, Albinism OMIM:203300
Focal Dermal Hypoplasia
Brittle hair, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Patchy alopecia, Nail dy... OMIM:305600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Inverted nipples, Wide intermamillary distance, External genital hypoplasia, Cryptorchidism, Hypo... ORPHA:96334
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Fi... ORPHA:261349
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Abnormal pulmonary interstitial morphology, Hyperhidrosis, Pulmona... ORPHA:35687
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Supernumerary nipple OMIM:612530
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Hypothyroidi... OMIM:615486
Postaxial Acrofacial Dysostosis
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:263750
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Fine hair... OMIM:129400
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Supernumerary nipple, Low anterior hairline, Glandular hypospadias, Low posterior ha... OMIM:604314
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Synophrys, Chordee OMIM:616728
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pulmonary interstitia... ORPHA:217563
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia ORPHA:1303
Acute Lung Injury
Acute pancreatitis, Abnormal pulmonary interstitial morphology, Pneumonia, Diffuse alveolar hemor... ORPHA:178320
Johanson-Blizzard Syndrome
Sparse scalp hair, Diabetes mellitus, Hypospadias, Septate vagina, Urethrovaginal fistula, Crypto... OMIM:243800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent aspiration pneumonia, Pulmonary fibrosis, Pulmonary h... ORPHA:79124
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Sy... ORPHA:261494
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Recurrent lower respiratory trac... OMIM:619644
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Sparse hair OMIM:612199
Systemic Sclerosis
Alopecia, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Hypohidrosis ORPHA:90291
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypospadias, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, ... ORPHA:477993
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary... ORPHA:420741
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Long eyelashes, Pulmonary fibrosis ORPHA:79430
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Frontal upsweep of hair, Micropenis, Sparse medial eyebrow OMIM:610954
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Cryptorchidism, Synophrys, Hirsu... OMIM:615485
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Hermansky-Pudlak Syndrome 2
Fair hair, Pulmonary fibrosis, Recurrent pneumonia, Albinism OMIM:608233
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus OMIM:617241
3Mc Syndrome
Bilateral cryptorchidism, Supernumerary nipple, Highly arched eyebrow ORPHA:293843
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pulmonary fibrosis OMIM:612852
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Interstitial... OMIM:615952
Chitayat Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617180
Acrorenal-Mandibular Syndrome
Absent nipple, Abnormality of the breast, Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Sparse eyebrow, Abnormal reproductive system morphology, Apla... ORPHA:1521
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Recurrent respiratory infections, Supernumerary nipple OMIM:616579
Sarcoidosis, Susceptibility To, 1
Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:181000
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... ORPHA:244
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple OMIM:617339
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Inverted nipples, Supernumerary nipple, Sparse eyebrow, Synophrys, High anterior hairline, Thick ... OMIM:620098
Reactive Arthritis
Dystrophic fingernails, Pulmonary fibrosis, Abnormal pleura morphology ORPHA:29207
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Juvenile Dermatomyositis
Alopecia, Pulmonary fibrosis ORPHA:93672
Char Syndrome
Supernumerary nipple ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Abnormal pulmonary interstitial morphol... ORPHA:221
Typhoid
Abnormal pulmonary interstitial morphology ORPHA:99745
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Microphallus OMIM:618454
Autoimmune Lymphoproliferative Syndrome
Premature ovarian insufficiency, Fibroadenoma of the breast, Thyroiditis, Panniculitis, Pulmonary... ORPHA:3261
Wild Type Attr Amyloidosis
Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary edema ORPHA:330001
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Micropenis, Supernumerary nipple, Highly arched eyebrow OMIM:618653
Branchioskeletogenital Syndrome
Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Micropenis, Penoscrot... ORPHA:1299
Niemann-Pick Disease, Type C2
Pulmonary fibrosis OMIM:607625
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Dyskeratosis Congenita, X-Linked
Alopecia, Sparse eyelashes, Cryptorchidism, Hyperhidrosis, Premature graying of hair, Nail dystro... OMIM:305000
2Q37 Microdeletion Syndrome
Wide intermamillary distance, Sparse scalp hair, Supernumerary nipple, Highly arched eyebrow, Spa... ORPHA:1001
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concentration, H... ORPHA:480880
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Pleuri... ORPHA:900
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Sparse eyelashes, Hypospadias, Sparse eyebrow, Cryptorchidism, ... OMIM:216340
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... OMIM:265120
Bohring-Opitz Syndrome
Wide intermamillary distance, Thick hair, Supernumerary nipple, Low anterior hairline, Hyperechog... OMIM:605039
Al Amyloidosis
Xerostomia, Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution co... ORPHA:85443
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Sarcoidosis
Alopecia, Hyperthyroidism, Abnormal pleura morphology, Abnormal lung morphology, Pneumothorax, En... ORPHA:797
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple ORPHA:2896
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Au-Kline Syndrome
Inverted nipples, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Sparse late... OMIM:616580
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide intermamillary distance, Decreased response to growth hormone stimulation test, Highly arche... OMIM:213980
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Abnormal pulmonary interstitial morphology, Pneumonia, Elev... ORPHA:97287
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Albinism OMIM:617050
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Coarse hair, Sparse hair, D... ORPHA:1071
Autoimmune Polyendocrinopathy Type 3
Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Abnormal pul... ORPHA:227982
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Pleural effusion, Pulmonary fibrosis ORPHA:3260
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:2072
Autoimmune Polyendocrinopathy Type 4
Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Abnormal pulmonary interstitial morphology,... ORPHA:227990
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Thyroiditis, Pulmonary interstitial lymphocyte infiltration, Pa... OMIM:606367
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Cryptorchidism, High anterior hairline, Supernumerary nipple OMIM:619194
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Wide intermamillary distance, Hypospadias, Supernumerary nipple ORPHA:397715
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Highly arched eyebrow ORPHA:247262
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Incontinentia Pigmenti
Alopecia, Supernumerary nipple, Abnormal hair morphology, Hyperhidrosis, Dystrophic toenail ORPHA:464
Gaucher Disease
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:355
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inverted nipples, Cryptorchidism, Hypothyroidism, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inverted nipples, Cryptorchidism, Hypothyroidism, Supernumerary nipple ORPHA:352665
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology OMIM:230800
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Pancreatic islet-cell hyp... ORPHA:373
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Overlap Myositis
Abnormal pulmonary interstitial morphology ORPHA:206572
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... ORPHA:466791
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology ORPHA:77259
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Bronchiolitis obliterans organizing pneumonia OMIM:619802
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Sparse eyebrow, Abnormal p... OMIM:614748
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Fusariosis
Lung abscess, Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Panniculitis, Pleural effu... ORPHA:228119
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
X-Linked Intellectual Disability, Snyder Type
Wide intermamillary distance, Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Abnormality... ORPHA:3063
Q Fever
Pleural effusion, Abnormal pulmonary interstitial morphology, Pneumonia ORPHA:781
3Mc Syndrome 1
Synophrys, Supernumerary nipple, Highly arched eyebrow OMIM:257920
Adams-Oliver Syndrome 1
Alopecia, Imperforate hymen, Supernumerary nipple OMIM:100300
Primary Sjögren Syndrome
Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Xerostomia, Abnormal pulmonary interst... ORPHA:289390
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Recurrent sinusitis, Recurrent low... OMIM:300755
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Broad eyebrow OMIM:235730
Oculoectodermal Syndrome
Supernumerary nipple, Pineal cyst OMIM:600268
Branchiooculofacial Syndrome
Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cryptorchidism, Low posterior ha... OMIM:113620
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Kawasaki Disease
Recurrent pharyngitis, Abnormality of nail color, Abnormal pulmonary interstitial morphology ORPHA:2331
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Gaucher Disease Type 3
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology ORPHA:77261
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Simpson-Golabi-Behmel Syndrome, Type 1
Wide intermamillary distance, Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Panc... OMIM:312870
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Bile duct proliferation, Abnormal pulmonary interstitial morphology OMIM:613658
Brucellosis
Lung abscess, Pneumonia, Bronchitis, Orchitis, Hyperhidrosis, Pulmonary granulomatosis, Pleural e... ORPHA:1304
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Pleural effusion, Alopecia, Abnormal pulmonary interstitial morphology ORPHA:50918
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Hypospadias, Supernumerary nipple, ... OMIM:601803
Chronic Graft Versus Host Disease
Alopecia, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Nail dystrophy, Ple... ORPHA:99921
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Cryptococcosis
Pleural effusion, Prostatitis, Pneumonia, Nodular pattern on pulmonary HRCT ORPHA:1546
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal pulmonary interstitial morphology ORPHA:77293
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar fluid, Reticu... OMIM:233450

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

Order Mouse and ES Cells

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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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