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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 associated to Brca2 by orthology or direct annotation.

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
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
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
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Ring Chromosome Y Syndrome
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Desmoid Tumor
Desmoid tumors, Sepsis, Fibroma, Intestinal polyposis, Neoplasm of the skin ORPHA:873
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism OMIM:241000
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Asherman Syndrome
Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua... ORPHA:137686
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis ORPHA:36237
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Immunodeficiency 66
Sepsis OMIM:618847
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Breast Cancer
Breast carcinoma OMIM:114480
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Acth-Independent Macronodular Adrenal Hyperplasia
Neoplasm, Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Ma... OMIM:219080
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Prostate Cancer
Prostate cancer OMIM:176807
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death OMIM:301021
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Small for gestational age OMIM:278780
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... OMIM:615830
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Lymphoproliferative disorder, Sepsis, Lymphoma, Recurrent infections, Recurrent... OMIM:615122
Hirschsprung Disease
Sepsis, Intestinal polyposis, Neoplasm of the thyroid gland ORPHA:388
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Reticular Dysgenesis
Sepsis OMIM:267500
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Short stature, Aplasia/hypoplasia of the uterus, Abnormal rib morphology, Azoo... ORPHA:2578
Specific Granule Deficiency 2
Sepsis, Recurrent bacterial infections, Myelodysplasia, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
N Syndrome
Abnormality of chromosome stability OMIM:310465
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity OMIM:615703
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal ... ORPHA:3268
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Neoplasm, Recurrent fungal infections, Sepsis, Recurrent bact... ORPHA:169090
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... ORPHA:432
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Sh... ORPHA:2183
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... ORPHA:3130
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Maternal Uniparental Disomy Of Chromosome X
Short stature, Camptodactyly of finger, Shield chest, Rocker bottom foot, Ambiguous genitalia, Pr... ORPHA:261519
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
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
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E... ORPHA:99330
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid habitus, Hypoplasia of pen... ORPHA:2234
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Anal canal squa... ORPHA:217390
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Short stature, Small hand, Syndactyly, Abnormal thorax morphology, Clino... ORPHA:1445
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Azoo... ORPHA:10
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Hypoplasia of the uterus, Bicornuate uterus, Short stature, Abnormal rib morpho... OMIM:601076
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Immunodeficiency 102
Sepsis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infection... OMIM:301082
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Reticular Dysgenesis
Sepsis, Recurrent respiratory infections ORPHA:33355
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Autosomal Agammaglobulinemia
Sepsis, Verrucae, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Felty Syndrome
Sepsis, Recurrent urinary tract infections, Lymphoma, Recurrent pharyngitis, Recurrent infections... ORPHA:47612
Acquired Purpura Fulminans
Neoplasm, Sepsis ORPHA:49566
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Pyomyositis
Testicular teratoma, Sepsis, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:764
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Isolated Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Recurrent cutaneous abscess formation ORPHA:229717
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... OMIM:609052
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Growth delay, Hypogonadism OMIM:615234
Selective Igm Deficiency
Onychomycosis, Multiple myeloma, Thyroid carcinoma, Recurrent infection of the gastrointestinal t... ORPHA:331235
X-Linked Agammaglobulinemia
Neoplasm, Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis ORPHA:47
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnor... ORPHA:1703
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Arachnodactyly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypo... ORPHA:243
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Alg1-Cdg
Sepsis, Recurrent infections ORPHA:79327
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hi... ORPHA:189427
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Inc... ORPHA:90790
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Androgen Insensitivity, Partial
Infertility, Abnormal rib cage morphology, Bifid scrotum, Micropenis, Male pseudohermaphroditism,... OMIM:312300
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
48,Xyyy Syndrome
Dislocated radial head, Radioulnar synostosis, Male hypogonadism, Primary gonadal insufficiency, ... ORPHA:99329
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... OMIM:308700
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Stillbirth, Neonatal death, Death in adolescence OMIM:619751
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Azoospermia, Hypoplasia o... ORPHA:96263
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Pectus excavatum, Streak ovary, Ambiguous genitalia, Abnormal intern... ORPHA:1772
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... ORPHA:2235
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Posterior rib fusion, Abnormal morphology of female internal genitalia, Abn... ORPHA:1797
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased circulating cor... ORPHA:786
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Disproportionate short-trunk short stature, Hyperpl... OMIM:156530
Diastrophic Dysplasia
Abnormal clavicle morphology, Neonatal short-limb short stature, Visceral angiomatosis, Hip dyspl... ORPHA:628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... OMIM:610755
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Abnormal rib morphology, Ambiguou... ORPHA:2772
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Young Syndrome
Azoospermia OMIM:279000
Warty Dyskeratoma
Acantholysis, Abnormal labia majora morphology, Vulvar neoplasm, Neoplasm of the tongue ORPHA:69745
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism, Superior rib anomalies OMIM:307500
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Cone-shap... ORPHA:474
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent tonsillitis, Sepsis, Recurrent urinary tract infections, Recurrent streptococcal infect... ORPHA:183675
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Shor... ORPHA:96264
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Finger... ORPHA:8
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,... OMIM:194072
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Postaxial hand polydactyly, Hypogona... ORPHA:110
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Mirage Syndrome
Decreased body weight, Lymphopenia, Leukopenia, Patent ductus arteriosus, Hypoplastic spleen, Ane... OMIM:617053
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, Sepsis, Lymphoma, Recurrent sinusitis, Recurrent infections, Recurr... OMIM:614700
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Omenn Syndrome
Sepsis, Lymphoma ORPHA:39041
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Upper limb undergrowth, Disproportionate short-trunk short sta... ORPHA:168549
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Contracture of the p... ORPHA:2232
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Severe short stature, Clinodactyly of the 5th finger, Hypospa... ORPHA:3242
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Short stature, Trident acetabulum, Brachydactyly, Pos... OMIM:617405
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Short stature, Short fe... ORPHA:1988
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Hepatocellular carcinom... OMIM:235200
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Galactosemia
Sepsis ORPHA:352
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Hypospadias, Camptodactyly, Abnormal rib morphology, Rhizomelia, Short foot, Postnata... OMIM:611209
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Ambiguous genitalia, Rhizome... ORPHA:93267
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Classic Galactosemia
Sepsis ORPHA:79239
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature... ORPHA:3082
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Thymic Aplasia
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... ORPHA:83471
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Pyoderma, Sepsis, Hepatocellular carcinoma, Recurrent urina... OMIM:300755
Prune Belly Syndrome
Urogenital sinus anomaly, Failure to thrive, Pectus excavatum, Cryptorchidism, Congenital hip dis... ORPHA:2970
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Flat acetabular roof, Missing ribs, Short thor... ORPHA:1801
Fanconi Anemia, Complementation Group A
Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu... OMIM:227650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent lower respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, R... OMIM:618986
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s... ORPHA:247768
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... ORPHA:347
Lamellar Ichthyosis
Sepsis, Recurrent respiratory infections ORPHA:313
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Calciphylaxis
Sepsis ORPHA:280062
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi... ORPHA:169154
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening, Short stature ORPHA:1513
Immunodeficiency 68
Sepsis OMIM:612260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections OMIM:616100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... ORPHA:158057
Immunodeficiency 54
Chromosome breakage OMIM:609981
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Short stature, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizo... ORPHA:163966
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent bronchitis, ... ORPHA:293978
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Ambiguous genitalia, Abnormal clavicle morphology, Hypospadias ORPHA:276422
Craniosynostosis, Herrmann-Opitz Type
Short stature, Abnormality of the urethra, Brachydactyly, Abnormal rib morphology, Split hand, In... ORPHA:2145
Pemphigus Vulgaris
Weight loss, Acantholysis ORPHA:704
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal irregularity, Disproportionate short-limb short stat... ORPHA:174
Cowden Syndrome 1
Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Transitional cell carcinom... OMIM:158350
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Pgm3-Cdg
Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Lymphoma, Recurrent infectio... ORPHA:443811
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Hypospadias, Radioulnar sy... ORPHA:2319
8P11.2 Deletion Syndrome
Supernumerary ribs, Azoospermia, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadis... ORPHA:251066
Heart Defects-Limb Shortening Syndrome
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Abnormal metaphysis ... ORPHA:1354
Fanconi Anemia, Complementation Group C
Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu... OMIM:227645
Fanconi Anemia, Complementation Group E
Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu... OMIM:600901
Bloom Syndrome
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Clinodactyly of the 5th fi... OMIM:210900
Whim Syndrome
Papilloma, Cutaneous melanoma, Sepsis, Recurrent bacterial infections, Recurrent upper respirator... ORPHA:51636
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Pectus excavatum, Decreased serum testosterone concentrati... OMIM:305400
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... ORPHA:158687
Kid Syndrome
Recurrent candida infections, Recurrent bacterial skin infections, Recurrent cutaneous fungal inf... ORPHA:477
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Short stature, Hypospadias, Camptodactyly of finger, Abnormal morphology of female in... ORPHA:2311
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... ORPHA:95699
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Acute Lung Injury
Sepsis ORPHA:178320
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Bloom Syndrome
Stomach cancer, Intrauterine growth retardation, Abdominal obesity, Neoplasm of the colon, Esopha... ORPHA:125
Heme Oxygenase 1 Deficiency
Sepsis OMIM:614034
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
De Sanctis-Cacchione Syndrome
Severe short stature, Bilateral coxa valga, Melanoma, Gonadal hypoplasia, Defective DNA repair af... OMIM:278800
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency, Short stature OMIM:619518
3M Syndrome
Enlarged thorax, Clinodactyly of the 5th finger, Thin ribs, Short stature, Hypospadias, Congenita... ORPHA:2616
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Inhalational Anthrax
Sepsis ORPHA:247257
Skin Fragility-Woolly Hair Syndrome
Failure to thrive, Acantholysis, Palmoplantar hyperkeratosis OMIM:607655
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Synostosis of carpal bones, Upper limb unde... ORPHA:93351
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
Sepsis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections OMIM:617303
Ovarian Fibrothecoma
Increased serum testosterone level, Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium mo... ORPHA:314478
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature ORPHA:195
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sepsis, Neoplasm of the heart ORPHA:2241
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Thin ribs, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, Pe... ORPHA:456328
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Supernumerary nipple, Pectus carinatum, Abnormality of tibia morpho... ORPHA:64755
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Intr... ORPHA:2643
Trisomy 13
Narrow chest, Ectrodactyly, Capillary hemangioma, Abnormal morphology of female internal genitali... ORPHA:3378
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent bacterial infections, Squamous cell carcinoma, Recurrent s... OMIM:243700
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Meningococcal Meningitis
Sepsis ORPHA:33475
Metatropic Dysplasia
Narrow chest, Halberd-shaped pelvis, Severe short stature, Clinodactyly of the 5th finger, Campto... ORPHA:2635
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Intrauterine growth retardation, Slender long bone, Abnormal pelvic gird... ORPHA:1506
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary ca... ORPHA:93324
Peroxisome Biogenesis Disorder 12A (Zellweger)
Sepsis OMIM:614886
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis ORPHA:2686
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Ring Chromosome 22 Syndrome
Azoospermia, 2-3 toe syndactyly, Growth delay, Neurofibromas ORPHA:1446
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Scedosporiosis
Sepsis ORPHA:449280
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Acantholysis, Orthokeratosis, Palmoplantar keratoderma OMIM:615508
Immunodeficiency With Hyper-Igm, Type 1
Recurrent lower respiratory tract infections, Recurrent bacterial infections, Sepsis, Chronic ora... OMIM:308230
Fanconi Anemia
Abnormality of femur morphology, Absent testis, Decreased fertility in males, Hypoplasia of the u... ORPHA:84
Darier-White Disease
Acantholysis, Enlargement of parotid gland, Subungual hyperkeratotic fragments OMIM:124200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Sepsis, Recurrent infections ORPHA:79396
Grant Syndrome
Sprengel anomaly, Narrow chest, Short stature, Abnormality of the glenoid fossa, Abnormal rib mor... ORPHA:2097
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening ORPHA:2790
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Legionnaires Disease
Sepsis, Recurrent pharyngitis ORPHA:549
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Ambiguous genitalia, female, Eunuchoid habit... ORPHA:91
Leopard Syndrome 1
Hypoplasia of the ovary, Pectus excavatum, Short stature, Delayed menarche, Micropenis, Hypospadi... OMIM:151100
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Small for gestational age, Thrombocytopenia, Deficient excision of... OMIM:227646
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short stature, Short tibia, Hypoplasia of the ulna, Aplasi... OMIM:612447
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Hypoplasia of the capital femoral epiphysis, Pectus carinatum, Disproportiona... ORPHA:239
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Birth length less than 3rd percentile, Pectus carinatum, Genu valgum, Clito... OMIM:224690
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Small for gestational... ORPHA:699
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Thin ribs, Bifid scrotum, Micropenis, Hypospadias, Unilateral cryptorc... OMIM:300219
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Thickened ribs, Diaphyseal sclerosis, Short stature OMIM:122860
Lassa Fever
Sepsis ORPHA:99824
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism, Abnormal rib morphology ORPHA:280195
Congenital Enterovirus Infection
Sepsis ORPHA:292
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... OMIM:612541
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Abnormal hip bone morphology,... ORPHA:3068
Chronic Granulomatous Disease
Sepsis, Recurrent respiratory infections ORPHA:379
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections OMIM:233600
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Cryptococcosis
Neoplasm, Sepsis, Lymphoid leukemia ORPHA:1546
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Congenital hypoparathyroidism, Thin clavicles, Small hand, Birth lengt... OMIM:244460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Short stature, Abnormal hip bone morphology, Hypo... ORPHA:2522
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micropenis, Small for gestational age, Hypospadias, Short ribs, Multi... OMIM:616897
Shwachman-Diamond Syndrome
Sepsis, Recurrent bacterial infections, Myelodysplasia, Recurrent viral infections, Leukemia, Acu... ORPHA:811
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Short stature, Follicular hyperkeratosis, Abnormal rib morphology, P... OMIM:308205
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Brac... OMIM:617895
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Weight loss, Abnormality of the urethra, Acantholysis ORPHA:537
Alg12-Cdg
Sepsis, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneumonia, Recurrent respirato... ORPHA:79324
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Disproportionate short-limb short stature, Neonatal short-limb sh... OMIM:225500
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Avian Influenza
Sepsis ORPHA:454836
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Wiskott-Aldrich Syndrome
Neoplasm, Sepsis, Lymphoma, Chronic leukemia, Acute leukemia, Recurrent respiratory infections ORPHA:906
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Bicornuate uterus, Thin ribs, Split foot, Hypopla... ORPHA:958
Thoracolaryngopelvic Dysplasia
Slender build, Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped t... OMIM:187760
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Micropenis, Short ribs, Congenital hypothyroid... ORPHA:2519
H Syndrome
Amenorrhea, Short stature, Micropenis, Camptodactyly, Hallux valgus, Delayed puberty, Hypogonadis... ORPHA:168569
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Testicular Germ Cell Tumor
Azoospermia, Embryonal neoplasm, Choriocarcinoma, Teratoma OMIM:273300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1836
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Stevens-Johnson Syndrome
Weight loss, Abnormality of the urethra, Dyspareunia, Acantholysis ORPHA:36426
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Fibrochondrogenesis 1
Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Thoracic hypoplasi... OMIM:228520
Achondrogenesis Type 1B
Narrow chest, Severe short stature, Abnormal rib morphology, Short thorax, Short foot, Disproport... ORPHA:93298
Hypophosphatasia
Narrow chest, Short stature, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphys... ORPHA:436
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Vacterl/Vater Association
Hypoplasia of penis, Finger syndactyly, Bifid scrotum, Hypospadias, Abnormality of the urethra, A... ORPHA:887
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Vaginal neoplasm, ... ORPHA:1916
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Short stature, 11 pair... OMIM:300863
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormal clavicle morphology, Ovarian cyst, Abnormality of the h... ORPHA:249
Holt-Oram Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sloping shou... ORPHA:392
Currarino Syndrome
Presacral teratoma, Sepsis, Recurrent urinary tract infections OMIM:176450
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Three M Syndrome 2
Severe short stature, Thin ribs, Small for gestational age, Short stature, Short 5th finger, Pect... OMIM:612921
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi... ORPHA:300298
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Intrauterine growth retardation, Short long bone... ORPHA:1505
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Sepsis ORPHA:199299
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Ambiguous genitalia, ... OMIM:613091
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis ORPHA:247691
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Cryptorchidism, Short sternum OMIM:184800
Dyggve-Melchior-Clausen Disease