Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
scaffold attachment factor B
Synonyms:
SAFB1,  5330423C17Rik,  3110021E02Rik

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 Safb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Impaired social interactions, Intrauterine growth retardation, Failure... ORPHA:163976
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Shyness, Failure to thrive, Absence of secondary sex characteristics, Increased circ... ORPHA:163971
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Obstructive azoospermia, Abnormality of... ORPHA:3471
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Increased circulating gonadotropin le... OMIM:300869
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
49,Xxxyy Syndrome
External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin level, Micrope... ORPHA:261534
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy... OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... ORPHA:99330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased... OMIM:201100
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Panc... ORPHA:562
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hepatic steatosis, Obesity OMIM:615703
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Lack of facial subcutaneous fat, Small for gestational age, Insulin-resistant diabet... ORPHA:2959
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Aplasia o... ORPHA:90797
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
47,Xyy Syndrome
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... ORPHA:8
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Telangiectasia, Amenorrhea, Azoospermia, Hepatocellular carcino... OMIM:235200
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... ORPHA:99429
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... ORPHA:243
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Young Syndrome
Bronchiectasis, Recurrent sinopulmonary infections, Recurrent bronchitis, Azoospermia OMIM:279000
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Abnormal rib morphology, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, B... OMIM:305400
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Per... ORPHA:314478
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Decreased serum estradiol, Increas... OMIM:615300
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Recurrent respiratory infections, Hypergonad... ORPHA:10
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ring Chromosome 21 Syndrome
Infertility, Cutaneous photosensitivity, Diabetes insipidus, Amenorrhea, Azoospermia ORPHA:1445
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Panhypophysitis
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:95513
48,Xyyy Syndrome
Primary gonadal insufficiency, Recurrent upper respiratory tract infections, Male hypogonadism, A... ORPHA:99329
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... OMIM:300845
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Decreased serum es... ORPHA:347
Bloom Syndrome
Type II diabetes mellitus, Cutaneous photosensitivity, Small for gestational age, Azoospermia, Le... OMIM:210900
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... ORPHA:206484
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Azoospermia, Abn... ORPHA:300298
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... ORPHA:91
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Eunuchoid habitus, Type I diabetes melli... ORPHA:3044
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Increased circulating androstenedione concentration, Increase... ORPHA:90795
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased ser... ORPHA:79239
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Primary... ORPHA:247768
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... ORPHA:90794
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
8P11.2 Deletion Syndrome
Hemolytic anemia, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pit... ORPHA:251066
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Intrauterine growth retardation, Spontaneous abortion, Clitor... ORPHA:96181
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Bardet-Biedl Syndrome
Hepatic fibrosis, Hypoplasia of the ovary, Hypogonadism, Obesity, Cryptorchidism, Hypoplasia of p... ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Pneumonia, Endometrial... ORPHA:90790
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Dysphagia, Decreased fertility OMIM:313200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hypospadias, Fused labia m... ORPHA:95699
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Recurrent respi... ORPHA:96263
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Tetraamelia Syndrome 1
Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atr... OMIM:273395
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
49,Xxxxy Syndrome
Shyness, Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Recurr... ORPHA:96264
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
H Syndrome
Facial telangiectasia, Amenorrhea, Azoospermia, Bronchiectasis, Hypogonadism, Micropenis, Hepatos... ORPHA:168569
Meningioma
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... ORPHA:2495
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Poor eye contact OMIM:300624
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Recurrent upper respiratory tract infections, Polycystic ovaries, Truncal obesity ORPHA:284180
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Primary amenorrhea, Decreased circulating progesterone, Premature ovarian i... OMIM:603896
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, O... ORPHA:786
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Cyanosis, Male ps... OMIM:250790
Bloom Syndrome
Oligospermia, Telangiectasia, Acute lymphoblastic leukemia, Intrauterine growth retardation, Abno... ORPHA:125
Clark-Baraitser syndrome
Macroorchidism, Obesity OMIM:300602
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Atkin-Flaitz Syndrome
Macroorchidism, Obesity OMIM:300431
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... OMIM:618723
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Elevated hepatic transaminase, Endometrial c... ORPHA:273
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Pulmonary artery hypoplasia, Micropenis, Bilateral cryptorchidism,... ORPHA:2326
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Micropenis, Cyanosis, Decreas... ORPHA:335
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism, Decreased serum insulin-like g... ORPHA:85327
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Hepatomegaly, Subpleural interstitial thickening, Hypoxemia, Bronchiec... ORPHA:60025
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Robinow Syndrome
Hypoplastic labia majora, Small for gestational age, Small scrotum, External genital hypoplasia, ... ORPHA:97360
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Thrombocytopenia, Pancytopenia, Cirrhosis OMIM:613987
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Small for gestational age, Ab... ORPHA:1916
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Fragile X Syndrome
Macroorchidism ORPHA:908
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Dysphagia, Hypogonadism OMIM:160900
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Poems Syndrome
Thrombocytosis, Polycythemia, Weight loss, Abnormality of the endocrine system, Erectile dysfunct... ORPHA:2905
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidism, Decrease... ORPHA:90674
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, External genital hypoplasia, Acrocyanosis, Cryptorchidism, Decreased testicular size ORPHA:1867
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Ring Chromosome 22 Syndrome
Pleural effusion, Azoospermia ORPHA:1446
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Petechiae, Weight loss, Anemia, Hypogonadism, Primary testicular fail... ORPHA:85450
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatomegaly, Pancreatic hypoplasia, Azoospermia, Retroperitoneal fibrosis... OMIM:602782
Wolfram Syndrome 1
Testicular atrophy, Dysphagia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Di... OMIM:222300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Fanconi Anemia
Hypospadias, Pyridoxine-responsive sideroblastic anemia, Intrauterine growth retardation, Leukope... ORPHA:84
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Cryptorchidism, Severe failure to thrive, Patent ductus arteriosus ORPHA:3304
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Hypoplastic labia minora, Absent scrotum, Cryptorchidism, Absence of labia majora, D... ORPHA:495875
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Bronchiectasis, R... ORPHA:293978
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Intrauterine growth retardation, Long penis, Polydipsia, Insu... ORPHA:769
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Cyanosis And Hepatic Disease
Cyanosis, Hepatitis OMIM:219400
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hy... OMIM:227650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Infertility, Abnormal T... ORPHA:330015
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Thin ribs, Death in infancy, Neonatal deat... OMIM:300219
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Dysphagia, Primary amenorrhea, Premature ovarian insuff... OMIM:157640
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Leopard Syndrome 1
Hypospadias, Missing ribs, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchid... OMIM:151100
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Chronic activ... OMIM:240300
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Abnormality of the spleen, Cachexia, Hepatic fibrosis, Azoospermia, Anemia, Cholelith... ORPHA:2072
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Truncal obesity, Hypogonadism, Vaginal atresia, Micro... OMIM:209900
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis ORPHA:91130
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Immotile sperm, Reduced sperm motility, Bronchiectasis, Absent inner dynein a... OMIM:613807
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Myotonic Dystrophy 2
Hypogonadism, Oligospermia, Diabetes mellitus, Elevated circulating follicle stimulating hormone ... OMIM:602668
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Ovarian Fibroma
Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal calcification, Pleural effusion, ... ORPHA:314473
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Failure to thrive OMIM:618874
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Recurrent respiratory infections, Male infertility, Bronchiec... OMIM:618801
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Intrauterine growth retardation, Hypoplasia of the ovary, Hepatic steatosis, Microp... OMIM:619321
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Short sternum, Cyanosis, Extramedullary hemat... ORPHA:2886
Alg6-Cdg
Failure to thrive, Abnormality of the liver, Increased circulating androgen concentration, Pubert... ORPHA:79320
Autosomal Dominant Cerebellar Ataxia
Erythema, Pseudobulbar paralysis, Azoospermia ORPHA:99
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Neoplasm of the th... ORPHA:99889
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Bronchiectasis, Recurrent bronchitis, Male infertility, Absent central microtubul... OMIM:617091
Cholesterol Pneumonia
Cyanosis, Death in infancy, Pneumonia OMIM:215030
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Honeycomb lung, Absent bronchoalveolar surfactant-protein C, Desquamative i... OMIM:610921
Trisomy 20P
Hypospadias, Macroorchidism, Cryptorchidism ORPHA:261318
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Hypoxemia, Maternal diabetes, Small for gestational age, Failure to thrive, Patent ... ORPHA:860
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Esophageal Atresia
Dysphagia, Maternal diabetes, Failure to thrive in infancy, Small for gestational age, Abnormal e... ORPHA:1199
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Alström Syndrome
Oligospermia, Chronic bronchitis, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulati... ORPHA:64
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Immotile sperm, Absent outer dynein arms, Male infertility, Recurrent sinusitis OMIM:614874
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Failure to thrive, Recurrent upper respiratory tract infec... OMIM:263000
Ciliary Dyskinesia, Primary, 9
Male infertility, Recurrent sinusitis, Pneumonia, Bronchiectasis OMIM:612444
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Diabetes insipidus, Azoospermia, Failure to thrive, Anemia, Recurrent respirato... ORPHA:534
Acute Interstitial Pneumonia
Reduced hematocrit, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Bronchiectasis, Interlo... ORPHA:79126
Apnea, Central Sleep
Cyanosis OMIM:207720
Ataxia-Telangiectasia
Bronchiectasis, Leukemia, Recurrent bronchitis, Hypoplasia of the thymus, Conjunctival telangiect... OMIM:208900
Alg9-Cdg
Hepatomegaly, Hypoplastic nipples, Abnormal lung lobation, Hepatic cysts, Hypoplasia of the ovary... ORPHA:79328
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Dysphagia, Intrauterine growth retardation, Thin... OMIM:264090
Asbestos Intoxication
Hypoxemia, Lung adenocarcinoma, Interlobular septal thickening, Pleural thickening, Cyanosis, Abn... ORPHA:2302
Lesch-Nyhan Syndrome
Testicular atrophy, Dysphagia, Megaloblastic anemia OMIM:300322
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Cyanosis, Aplasia/Hypoplasia of the thymus, Pulmonary arte... ORPHA:3426
Cystinosis, Nephropathic
Hepatomegaly, Dysphagia, Failure to thrive in infancy, Polydipsia, Splenomegaly, Primary hypothyr... OMIM:219800
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, Hepatomegaly, Death in infancy, Failure to thrive, Poor eye contact, Splenomegaly, C... OMIM:252010
Cryptogenic Organizing Pneumonia
Leukocytosis, Hypoxemia, Pneumothorax, Weight loss, Neutrophilia, Cyanosis ORPHA:1302
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Cyanosis, Pleural effusion, Splenomegaly ORPHA:2414
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Small for gestational age, Anemia, Splenomega... ORPHA:90051
Schinzel-Giedion Syndrome
Hypospadias, Central hypothyroidism, Dysphagia, Failure to thrive in infancy, Streak ovary, Annul... ORPHA:798
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Death in infancy, Failure to thrive, Interlobular septal t... OMIM:265120
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Neoplasm of the lung, Thymus hyperplasia, Diabetes insipidus, L... ORPHA:744
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Hutchinson-Gilford Progeria Syndrome
Weight loss, Prominent superficial blood vessels, Generalized abnormality of skin, Cyanosis, Seve... ORPHA:740
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Polycystic ovaries, Cyanosis, Pulmonary edema ORPHA:137675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Impaired social interactions, Polyphagia, Polydipsia, Elevated hepatic tr... ORPHA:293987
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, In... OMIM:610913
Primary Pulmonary Hypoplasia
Hypoxemia, Intrauterine growth retardation, Failure to thrive, Pneumothorax, Cyanosis, Recurrent ... ORPHA:2257
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Petechiae, Elevated hepatic transaminase, Erythema, Splenomegal... OMIM:225750
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Recurrent sinopulmonary infections, Peribronc... ORPHA:244
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Weight loss, Vasculitis in the skin, Acrocyanosis, Cutis marmorata, ... ORPHA:48435
Renal Dysplasia-Limb Defects Syndrome
Maternal diabetes, Intrauterine growth retardation, Thin ribs, Pneumothorax, Neonatal death, Shor... OMIM:266910
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Hsd10 Disease, Infantile Type
Cyanosis, Dysphagia ORPHA:391428
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Small for gestational age ORPHA:621
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Myasthenia Gravis
Dysphagia, Hepatitis, Pure red cell aplasia, Primary adrenal insufficiency, Acrocyanosis, Hyperth... ORPHA:589
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Respiratory tract infection, Pulmonary edema, Cyanosis ORPHA:70587
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis, Phimosis OMIM:234800
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Hyperhidrosis OMIM:252320
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Severe intrauterine growth retardation, Increased serum testosterone level, Type II ... ORPHA:3455
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Vascular skin abnormality, Failure to thrive, Acroc... ORPHA:349
Buerger Disease
Acrocyanosis, Hyperhidrosis ORPHA:36258
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Small for gestational age, Chordee, Vesicovaginal fistula, Labial hyp... OMIM:201750
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Acquired Methemoglobinemia
Hypoxemia, Methemoglobinemia, Cyanosis ORPHA:464453
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Meacham Syndrome
Death in infancy, Neonatal death, Death in childhood, Stillbirth, Patent ductus arteriosus, Cardi... OMIM:608978
Tetrasomy 5P
Failure to thrive, Cyanosis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Noonan Syndrome 1
Hypospadias, Failure to thrive in infancy, Amegakaryocytic thrombocytopenia, Patent ductus arteri... OMIM:163950
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Cyanosis, Methemoglobinemia OMIM:250800
Pitt-Hopkins Syndrome
Failure to thrive, Acrocyanosis, Micropenis, Cryptorchidism, Supernumerary nipple ORPHA:2896
Laryngotracheoesophageal Cleft
Cyanosis, Choking episodes, Recurrent respiratory infections, Impaired oropharyngeal swallow resp... ORPHA:2004
Aspartylglucosaminuria
Angiokeratoma corporis diffusum, Macroorchidism, Hepatomegaly, Neutropenia, Vacuolated lymphocyte... OMIM:208400
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Type II diabetes melli... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Type II diabetes melli... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Type II diabetes melli... ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Type II diabetes melli... ORPHA:99226
Congenital Myasthenic Syndrome
Cyanosis, Choking episodes, Recurrent respiratory infections, Dysphagia ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Choking episodes, Recurrent respiratory infections, Dysphagia ORPHA:98914
Eosinophilic Granulomatosis With Polyangiitis
Dysphagia, Weight loss, Recurrent intrapulmonary hemorrhage, Acrocyanosis, Urticaria, Cutis marmo... ORPHA:183
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Cyanosis ORPHA:444013
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hepatic failure, Hepatic steatosis OMIM:261680
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Vascular skin abnormality, Splenomegaly, Recurrent respiratory infe... ORPHA:93
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Hyperhidrosis ORPHA:2400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive OMIM:614407
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Elevated hepatic transaminase, Acrocyanosis, Micropenis, Hepatospleno... ORPHA:51
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Iron deficiency anemia, Pulmonary hemorrhage, Pleural empyema, Cyanosi... ORPHA:2038
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Failure to thrive in infancy ORPHA:488627
Diphallia
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... ORPHA:227
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Asplenia, Bronchiectasis, Absent outer dynein arms, Male inferti... OMIM:244400
Chiari Malformation Type Ii
Cyanosis, Dysphagia OMIM:207950
Dravet Syndrome
Cyanotic episode ORPHA:33069
Telangiectasia, Hereditary Hemorrhagic, Type 1
Fingerpad telangiectases, Hypoxemia, Polycythemia, Conjunctival telangiectasia, Spontaneous abort... OMIM:187300
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, Abnormal pulmonar... ORPHA:199241
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cyanosis, Recurrent respiratory infections, Intraalveolar pho... OMIM:610910
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Hepatic failure ORPHA:159
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Hypoxemia, Intrauterine growth retardation, Small for gestational age, Cyanosis, An... ORPHA:555874
Chronic Pneumonitis Of Infancy
Failure to thrive, Hypoxemia, Cyanosis ORPHA:91359
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Weight loss, Cyanosis, Intraalveolar phospholipid accumulation ORPHA:747
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Male infertility OMIM:619607
Complete Atrioventricular Septal Defect
Hepatomegaly, Failure to thrive, Cyanosis, Recurrent pneumonia, Hyperhidrosis ORPHA:1329
Acquired Purpura Fulminans
Acrocyanosis, Thrombocytopenia, Hepatic failure, Macular purpura ORPHA:49566
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Erythema, Acrocyanosis, Urticaria, Purpura ORPHA:343
Arnold-Chiari Malformation Type Ii
Cyanosis, Dysphagia, Pneumonia ORPHA:1136
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis OMIM:610773
Choanal Atresia
Cyanosis, Choking episodes, Recurrent respiratory infections ORPHA:137914
Truncus Arteriosus
Adrenocortical abnormality, Intrauterine growth retardation, Abnormal lung lobation, Hypoplasia o... ORPHA:3384
Cystic Fibrosis
Hepatomegaly, Bronchiectasis, Failure to thrive, Recurrent bronchopulmonary infections, Pancreati... OMIM:219700
Congenital Tracheomalacia
Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Failure to thrive, Pneumothorax, Patent ductus a... ORPHA:95430
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Abnormality of the menstrual cycle, Acrocyanosis, Decreased fertility ORPHA:285
Coffin-Lowry Syndrome
Bifid sternum, Acrocyanosis, Uterine prolapse, Cutis marmorata, Decreased body weight OMIM:303600
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Asplenia, Failure to thrive, Patent ductus arteriosus, Cyanosis, Biliar... OMIM:306955
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Hepatic calcification, Failure to thrive in infancy, Pancreatic c... ORPHA:51608
Ethylene Glycol Poisoning
Cyanosis, Renal tubular epithelial necrosis, Pulmonary edema ORPHA:31826
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Familial Dysautonomia
Abnormality of the peritoneum, Acrocyanosis, Hypohidrosis, Hyperhidrosis, Abnormal pleura morphol... ORPHA:1764
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Cyanosis, Recurrent respiratory infections, Pulmonary artery dilatation ORPHA:99106
Classical Ehlers-Danlos Syndrome
Ecchymosis, Cervical insufficiency, Acrocyanosis, Uterine prolapse, Prematurely aged appearance, ... ORPHA:287
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Premature adrenarche, Diabetes mellitus ORPHA:2976
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Aortopulmonary window, Anomalous origin of left pulmonary artery from ascendin... ORPHA:99050
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Patent ductus arteriosus, Cyanosis, Pulmonary edema, Recurrent pneumo... ORPHA:980
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Cyanosis, Polysplenia, Pulm... OMIM:616749
Dermatomyositis
Cutaneous photosensitivity, Lung adenocarcinoma, Weight loss, Erythema, Telangiectasia of the ski... ORPHA:221
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Telangiectasia, Hereditary Hemorrhagic, Type 2
Fingerpad telangiectases, Polycythemia, Conjunctival telangiectasia, Anemia, Nail bed telangiecta... OMIM:600376
Eisenmenger Syndrome
Hepatomegaly, Hypoxemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron d... ORPHA:97214
Congenital Tracheal Stenosis
Abnormal lung lobation, Patent ductus arteriosus, Cyanosis, Abnormal lung morphology, Anomalous o... ORPHA:141127
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Episodic hyperhidrosis, Recurrent infections due to aspiration OMIM:223900
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Weig... OMIM:233450
Criss-Cross Heart
Cyanosis ORPHA:1461
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis ORPHA:268943
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia ORPHA:99103
Primary Hyperoxaluria
Elevated hepatic transaminase, Cutis marmorata, Acrocyanosis, Failure to thrive ORPHA:416
Atrioventricular Septal Defect 3
Cyanosis OMIM:600309
Aortic Arch Interruption
Cyanosis, Aortopulmonary window, Patent ductus arteriosus ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Pulmonary arteriovenous malformation, Cyanosis, Tongue telangiectasi... OMIM:610655
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Mixed total anomalous pulmonary venous connection, Patent ductus arteriosus, Cardia... ORPHA:99125
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:216694
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Safb

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Safb.

No publications found that use IMPC mice or data for Safb.

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MGI Allele Allele Type Produced
Safbtm460685(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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