banner
Genes Phenotypes Help, News, Blog

Gene: Brca2 MGI:109337

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
breast cancer 2, early onset
Synonyms:
RAB163,  Fancd1

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 Brca2 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.

The table below shows human diseases predicted to be associated to Brca2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Desmoid Tumor
Neoplasm of the skin, Sepsis, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Bullous Impetigo
Sepsis, Recurrent bacterial skin infections ORPHA:36237
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Breast Cancer
Breast carcinoma OMIM:114480
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Immunodeficiency 66
Sepsis OMIM:618847
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death OMIM:301021
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spermatogenic Failure 17
Male infertility OMIM:617214
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Prostate Cancer
Prostate cancer OMIM:176807
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Small for gestational age OMIM:278780
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Hirschsprung Disease
Sepsis, Intestinal polyposis, Neoplasm of the thyroid gland ORPHA:388
Lymphoproliferative Syndrome 2
Recurrent infections, Recurrent pneumonia, Sepsis, Lymphoma, Hodgkin lymphoma, Lymphoproliferativ... OMIM:615122
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Reticular Dysgenesis
Sepsis OMIM:267500
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Abnormal rib morphology, Short stature, Bicornuate... ORPHA:2578
N Syndrome
Abnormality of chromosome stability OMIM:310465
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Myelodysplasia OMIM:617475
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Squamous cell carcinoma, Recurrent cutaneous abscess formation OMIM:613736
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Normosmic Congenital Hypogonadotropic Hypogonadism
Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, Increased female li... ORPHA:432
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Short statur... ORPHA:3268
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Chronic mucocutaneous candidiasis, Lymphoma, Severe recurrent varicella, Recurrent cutane... ORPHA:276
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent otitis media, Recurrent sinusi... OMIM:243700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Short 4th metacarpal, Short stature, Abnormality of the hypothalamus-pituit... ORPHA:2183
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Neoplasm, Recurrent funga... ORPHA:169090
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... OMIM:620548
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem... OMIM:616858
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Deleted in azoospermia
Azoospermia OMIM:400003
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... OMIM:612783
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Camptodactyly of finger, Azoospermia, Ambiguous genitalia, Short s... ORPHA:261519
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Verrucae, Recurrent candida infections, Squamous cell carcinoma of th... ORPHA:217390
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas... ORPHA:99330
48,Xxyy Syndrome
Lymphoma, Abnormal shoulder morphology, Decreased testicular size, Azoospermia, Infertility, Type... ORPHA:10
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Azoospermia, Abnormal thorax morphology, Amenorrhea, Short stature, Inf... ORPHA:1445
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Sprengel anomaly, Abnormal rib morphology, Short stature, Hypoplasia of the uterus, ... OMIM:601076
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis OMIM:620321
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Verrucae, Recurrent sinusitis, Recurrent lo... OMIM:301082
Autosomal Agammaglobulinemia
Recurrent infections, Sepsis, Verrucae, Recurrent respiratory infections ORPHA:33110
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis ORPHA:33355
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Acquired Purpura Fulminans
Sepsis, Neoplasm ORPHA:49566
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, P... OMIM:615633
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Pyomyositis
Testicular teratoma, Recurrent infections, Sepsis, Recurrent cutaneous abscess formation ORPHA:764
Felty Syndrome
Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent urinary tract infections... ORPHA:47612
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Isolated Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent cutaneous abscess formation ORPHA:229717
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spondylometaphyseal Dysplasia, Type A4
Severe short stature, Pectus carinatum, Disproportionate short-limb short stature, Hypoplasia of ... OMIM:609052
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Cryptorchidism, Abnormal rib morphology... ORPHA:1703
Alg1-Cdg
Recurrent infections, Sepsis ORPHA:79327
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Recurrent cutaneous abscess formation, Neoplasm ORPHA:47
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Selective Igm Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Verrucae, Recurrent re... ORPHA:331235
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Increased circul... ORPHA:243
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis ORPHA:204
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Androgen Insensitivity, Partial
Abnormal rib cage morphology, Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonad... OMIM:312300
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Radioulnar synostosis, Dislocated radial head, Primary gonadal in... ORPHA:99329
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Menin... ORPHA:189427
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level ORPHA:96181
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Micropenis, Abnormal internal... ORPHA:1772
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Intrauterine growth retardation, Stillbirth OMIM:619751
48,Xxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Hypogonadism, Decreased testicular size, Azoospermi... ORPHA:96263
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Postnatal growth retardation,... OMIM:210900
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Short thorax, Abnormal morphology of female internal genitalia, Intrauterin... ORPHA:1797
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Diastrophic Dysplasia
Ulnar deviation of finger, Neonatal short-limb short stature, Abnormal epiphysis morphology, Abno... ORPHA:628
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Warty Dyskeratoma
Acantholysis, Neoplasm of the tongue, Vulvar neoplasm, Abnormal labia majora morphology ORPHA:69745
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Disproportionate short-trunk short stature, ... OMIM:156530
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Basal cell carcinoma, Deficient excision of UV-induced pyrimidine dimers in... OMIM:278760
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased body weight, Thrombocytopenia, Anemia, Hypoplastic spleen, Pat... OMIM:617053
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent upper respiratory tract infections, Sepsis, Lymphoma, Recurrent candida infections, Rec... ORPHA:436159
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Elevated circulating luteinizing hormone level, Decreased response to growth hormone ... OMIM:300845
49,Xxxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Hypogonadism, Decreased testicular size, Azoospermi... ORPHA:96264
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchidism, Ambig... ORPHA:2772
47,Xyy Syndrome
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Micropenis, Increased serum testost... ORPHA:8
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Lymphoma, Recurrent otitis media, ... OMIM:614700
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Nep... OMIM:194072
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Leukemia, C... OMIM:227650
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Epidermolysis Bullosa, Lethal Acantholytic
Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th finger, Acantholysis, Tap... OMIM:609638
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... ORPHA:183675
Omenn Syndrome
Sepsis, Lymphoma ORPHA:39041
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Renpenning Syndrome
Severe short stature, Hypospadias, Decreased testicular size, Abnormal thumb morphology, Cachexia... ORPHA:3242
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal rib... ORPHA:1988
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnormal m... ORPHA:93267
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Hepatocellular carcinoma, Testicular atro... OMIM:235200
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Recurrent urinary tract infections, Recurrent candida infections, Recurrent infection of ... ORPHA:83471
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Classic Galactosemia
Sepsis ORPHA:79239
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... ORPHA:3082
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Brachydactyly, Increased serum tes... ORPHA:247768
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Leukemia, C... OMIM:600901
Acrokeratosis Verruciformis
Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Cog4-Cdg
Neonatal sepsis, Recurrent upper respiratory tract infections, Recurrent infection of the gastroi... ORPHA:263501
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Sepsis, Recurrent respiratory infections OMIM:256500
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Leukemia, I... OMIM:227645
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... OMIM:300755
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent sinusitis, Recurrent lower respira... OMIM:618986
Prune Belly Syndrome
Congenital hip dislocation, Failure to thrive, Abnormality of the uterus, Decreased testicular si... ORPHA:2970
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Undulate ribs, Missing ribs, Bowing of the long bon... ORPHA:1801
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Lamellar Ichthyosis
Recurrent respiratory infections, Sepsis ORPHA:313
Immunodeficiency 54
Chromosome breakage OMIM:609981
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Nephroblastoma, Ambiguous genitalia, male, Male pseudohe... ORPHA:347
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Craniodiaphyseal Dysplasia
Short stature, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Adrenal hyperplasia, Cryptorchidism, Polycystic o... ORPHA:95699
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Disproportionate short-limb sh... ORPHA:174
Immunodeficiency 68
Sepsis OMIM:612260
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplas... ORPHA:163966
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Abnormal rib ... ORPHA:1354
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Ovarian carcinoma, ... OMIM:158350
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Verrucae, Cutaneous me... ORPHA:51636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:616100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndacty... ORPHA:158687
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Lympho... ORPHA:443811
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Failure to thrive, Reduced circulating growth hormone c... OMIM:615508
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Acute myeloid leukemia, Oligozoosper... ORPHA:125
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Calciphylaxis
Sepsis ORPHA:280062
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency OMIM:619518
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma OMIM:620415
Kid Syndrome
Neoplasm of the skin, Trichilemmoma, Sepsis, Recurrent candida infections, Recurrent cutaneous fu... ORPHA:477
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Supernumerary ribs, Hypogonadotropic hypogonadism, Sho... ORPHA:251066
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Juberg-Hayward Syndrome
Severe short stature, Toe syndactyly, Short thumb, Intrauterine growth retardation, Radioulnar sy... ORPHA:2319
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Camptodactyly of finger, Abnormal morphology of female internal ... ORPHA:2311
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Failure to thrive, Palmoplantar hyperkeratosis, Acantholysis, Clubbing ... OMIM:605676
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
3M Syndrome
Thin ribs, Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Short ... ORPHA:2616
De Sanctis-Cacchione Syndrome
Severe short stature, Bilateral cryptorchidism, Parakeratosis, Melanoma, Bilateral coxa valga, De... OMIM:278800
Inhalational Anthrax
Sepsis ORPHA:247257
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Acute Lung Injury
Sepsis ORPHA:178320
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Heme Oxygenase 1 Deficiency
Sepsis OMIM:614034
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Cryptorchidism, Weight loss, Hy... ORPHA:84
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Disproportionate sho... ORPHA:93351
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Fibrosarcoma, Metrorrhagia, Diffuse leiomyomatos... ORPHA:314478
Meningococcal Meningitis
Sepsis ORPHA:33475
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal ... ORPHA:456328
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal epiphysis morphology, Intrauterine growth retardation, Brachydacty... ORPHA:2643
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Becker Nevus Syndrome
Pectus carinatum, Supernumerary nipple, Abnormal tibia morphology, Abnormal scrotum morphology, S... ORPHA:64755
Peroxisome Biogenesis Disorder 12A (Zellweger)
Sepsis OMIM:614886
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Recurrent pneumonia, Sepsis, Recurrent respiratory infections OMIM:617303
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Postnatal growth retardation, Intrauterine growth retardation, Stenosis of... ORPHA:93324
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Slender long bone, Abnor... ORPHA:1506
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal morphology of female... ORPHA:3378
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... ORPHA:293978
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Sepsis, Chronic ora... OMIM:308230
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... OMIM:227646
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sepsis, Neoplasm of the heart ORPHA:2241
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Azoospermia, Growth delay, Neurofibroma ORPHA:1446
Pemphigus Vulgaris
Acantholysis, Weight loss ORPHA:704
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Developmental And Epileptic Encephalopathy 111
Recurrent respiratory infections, Sepsis OMIM:620504
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis ORPHA:2686
Metatropic Dysplasia
Severe short stature, Narrow chest, Coarse metaphyseal trabecularization, Camptodactyly of finger... ORPHA:2635
Scedosporiosis
Sepsis ORPHA:449280
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Bowing of... ORPHA:2097
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... ORPHA:99889
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay OMIM:615234
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma ORPHA:455
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Darier-White Disease
Subungual hyperkeratotic fragments, Acantholysis, Enlargement of parotid gland OMIM:124200
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:2790
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis OMIM:616295
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Clitoral hypertrophy, Cutaneous finger syndactyly, Genu valgum, Patellar a... OMIM:224690
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Recurrent infections, Sepsis ORPHA:79396
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism, Abnormal rib morphology ORPHA:280195
Lassa Fever
Sepsis ORPHA:99824
Legionnaires Disease
Sepsis, Recurrent pharyngitis ORPHA:549
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ne... OMIM:300219
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... ORPHA:699
Cryptococcosis
Lymphoid leukemia, Sepsis, Neoplasm ORPHA:1546
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Thickened ribs, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level OMIM:122860
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Hypogonadotropic hypogonadism, Abnormal rib morph... ORPHA:3068
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Intrauterine growth retardation, Proportionate short st... OMIM:244460
Aromatase Deficiency