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Gene: Cyp7b1 MGI:104978

Gene Summary

Name:

cytochrome P450, family 7, subfamily b, polypeptide 1

Synonyms:

hct-1, D3Ertd552e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased total retina thickness		Cyp7b1^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	1.90×10^-05
impaired glucose tolerance		Cyp7b1^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	3.26×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	0.0% (0 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	0.0% (0 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	0.0% (0 of 2)
Liver	Wholemount images	heterozygote	50% (1 of 2)
Lower urinary tract	Wholemount images	heterozygote	50% (1 of 2)
Mesenteric lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	50% (1 of 2)
Peripheral nervous system	Wholemount images	heterozygote	0.0% (0 of 2)
Peyer's patch	Wholemount images	heterozygote	50% (1 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Small intestine	Wholemount images	heterozygote	50% (1 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Vas deferens	Wholemount images	heterozygote	Not available
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cecum	N/A	heterozygote	0.0% (0 of 1)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	Not available
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	100% (2 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vas deferens	Unavailable
vascular system	0.0%
white adipose tissue	0.0%

XRay Images Skull Lateral Orientation

9 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Cyp7b1 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.

Human diseases associated with Cyp7b1 (4 diseases)
Human diseases predicted to be associated with Cyp7b1 (610 diseases)

The table below shows human diseases associated to Cyp7b1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spastic Paraplegia 5A, Autosomal Recessive	Optic atrophy	OMIM:270800
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea	OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3	Bile duct proliferation	ORPHA:79302
Autosomal Recessive Spastic Paraplegia Type 5A		ORPHA:100986

The table below shows human diseases predicted to be associated to Cyp7b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Cortisone Reductase Deficiency 1	Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance, Optic atrophy	OMIM:311100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Diabetes mellitus, Rod-cone dystrophy	OMIM:158500
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr...	ORPHA:3000
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Secondary amenorrhea, Hirsutism, Premature pubarche	OMIM:612847
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea	OMIM:184700
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame...	OMIM:212840
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty	ORPHA:217377
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Cortisone Reductase Deficiency 2	Premature pubarche	OMIM:614662
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Invasive Mole	Menometrorrhagia	ORPHA:99925
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Central Precocious Puberty In Male	Abnormality of the testis size, Pituitary microadenoma, Abnormality of secondary sexual hair, Abn...	ORPHA:649929
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Placental Site Trophoblastic Tumor	Metrorrhagia, Amenorrhea	ORPHA:99928
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Pituitary Gigantism	Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati...	ORPHA:99725
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Supernumerary nipple	OMIM:619243
Satoyoshi Syndrome	Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs...	ORPHA:3130
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A...	OMIM:614736
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Increase...	ORPHA:247768
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Ovarian Dysgenesis 10	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Low anterior ...	ORPHA:528
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le...	ORPHA:785
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Temple Syndrome	Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo...	ORPHA:254516
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Androgen Insensitivity Syndrome	Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse ...	OMIM:300068
Gestational Choriocarcinoma	Metrorrhagia	ORPHA:99926
Intellectual Developmental Disorder, Autosomal Recessive 76	Precocious puberty in females	OMIM:619931
Satoyoshi Syndrome	Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea	OMIM:600705
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Cryptorchidism, Synophrys, Gonadal dysgenesis, Hypogonadism	ORPHA:3306
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cryptorchidism, Premature pubarche	ORPHA:457205
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k...	OMIM:262190
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Septopreoptic Holoprosencephaly	Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus	ORPHA:280195
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98754
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se...	ORPHA:2410
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Chromosome Xp11.23-P11.22 Duplication Syndrome	Medial flaring of the eyebrow, Precocious puberty, Synophrys, Low posterior hairline, Thick eyebrow	OMIM:300801
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98793
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177904
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177901
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:614962
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circu...	OMIM:620282
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy	OMIM:264270
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:739
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty	ORPHA:254525
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Neoplasm of the scr...	ORPHA:370348
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Precocious puberty	ORPHA:457260
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Temple Syndrome	Precocious puberty, Cryptorchidism, Decreased testicular size, Maturity-onset diabetes of the young	OMIM:616222
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young	ORPHA:254531
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In...	OMIM:110100
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Small sc...	ORPHA:398069
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea	ORPHA:2795
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Frasier Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma	OMIM:136680
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Ollier Disease	Precocious puberty	ORPHA:296
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty	ORPHA:293181
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Optic Pathway Glioma	Precocious puberty	ORPHA:2086
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia...	OMIM:246200
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty	OMIM:619877
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Hyperhid...	ORPHA:813
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young	ORPHA:96184
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Labial hypoplasia, Micropenis, Hirsutism	OMIM:620073
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty	OMIM:300958
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Prader-Willi Syndrome	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas...	OMIM:176270
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty	OMIM:619356
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ...	OMIM:610628
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro...	ORPHA:243
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
19P13.3 Microduplication Syndrome	Precocious puberty, Unilateral cryptorchidism	ORPHA:447980
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec...	OMIM:618187
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Secondary amenorrhea, Goiter	OMIM:617175
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
19P13.12 Microdeletion Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Hypothyroidism, Generalized hirsutism	ORPHA:254346
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypergonad...	OMIM:241080
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Decreased circulating antibody level, Decreased circulating total IgM, Decr...	OMIM:619802
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Radio-Tartaglia Syndrome	Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Synophrys, Low anterior ...	OMIM:619312
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Basilicata-Akhtar Syndrome	Precocious puberty	OMIM:301032
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty	ORPHA:2788
Premature Ovarian Failure 14	Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ...	OMIM:618014
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Hemochromatosis, Type 2A	Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea	OMIM:602390
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t...	ORPHA:3464
Smith-Magenis Syndrome	Precocious puberty, Synophrys, Hypothyroidism, Delayed puberty	ORPHA:819
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Rabson-Mendenhall Syndrome	Enlarged ovaries, Thick hair, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mell...	ORPHA:769
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Cryptorchidism, Synophrys, Hirsu...	OMIM:615485
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Highly arched eyeb...	ORPHA:572333
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Slc35A2-Cdg	Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration	ORPHA:356961
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Hyperhidrosis, Patchy alopecia, Pheochromocytoma	ORPHA:2874
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:79085
Carpenter Syndrome 1	Precocious puberty, Cryptorchidism, External genital hypoplasia	OMIM:201000
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
9P13 Microdeletion Syndrome	Precocious puberty, Thick eyebrow, External genital hypoplasia, Highly arched eyebrow	ORPHA:324313
Immunodeficiency 48	Panhypogammaglobulinemia	OMIM:269840
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the gallbla...	ORPHA:96092
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Diabetes insipidus, Adrenal hypoplasia, Cryptor...	ORPHA:95496
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation...	ORPHA:1809
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Hemochromatosis, Type 3	Impotence, Hypogonadotropic hypogonadism, Amenorrhea	OMIM:604250
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Rectovaginal fistula, Thick eyebrow	OMIM:608980
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Amed Syndrome, Digenic	Hypoplasia of the uterus, Adrenal hypoplasia	OMIM:619151
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi...	ORPHA:2588
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Hirsutism	ORPHA:371428
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Alopecia	OMIM:163200
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame...	OMIM:600955
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty	ORPHA:261652
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormality of female external genitalia, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:2637
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Peritoneal Cystic Mesothelioma	Menorrhagia, Dyspareunia, Metrorrhagia	ORPHA:168816
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Angelman Syndrome	Delayed menarche, Fair hair, Precocious puberty in females	ORPHA:72
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I...	OMIM:102700
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435651
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty	ORPHA:163681
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hypocholesterolemia, Steatorrhea, Decreased circulating IgA level	OMIM:212065
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Decreased circulating antibody level	OMIM:300635
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypothyroidism, Premature thelarche, Premature pubarche	OMIM:616878
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insulin-dependent diabetes mellitus	ORPHA:96191
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Sparse scalp hair, Hypospadias, Type II diabetes mellitus	OMIM:210720
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Decreased circulating IgA level	OMIM:613327
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina...	ORPHA:331235
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435660
Celiac Disease, Susceptibility To, 1	Steatorrhea, Decreased circulating IgA level	OMIM:212750
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Pancreatitis, Insulin-resistant diabetes mell...	ORPHA:79083
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ...	OMIM:615866
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Glucose intolerance, D...	ORPHA:552
Tuberous Sclerosis 1	Precocious puberty, Hypothyroidism, Adenoma sebaceum, Preauricular hair displacement	OMIM:191100
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Alexander Disease	Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis	ORPHA:58
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Long eyelashes, Hypospadias	OMIM:615877
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Ataxia-Telangiectasia	Decreased circulating IgG2 level, Decreased circulating IgG level, Defective B cell differentiati...	OMIM:208900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Hypoparathyroidism	ORPHA:369837
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Immunodeficiency 52	Decreased circulating antibody level	OMIM:617514
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Long...	ORPHA:2322
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6...	OMIM:300853
Tay-Sachs Disease	Precocious puberty	ORPHA:845
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Dubowitz Syndrome	Decreased circulating IgG level, Hypocholesterolemia, Decreased circulating IgA level	OMIM:223370
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm...	ORPHA:363958
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Precocious puberty, Low anterior hairline, Long eyelashes, Horizontal eyebrow, Macroo...	OMIM:619950
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi...	OMIM:270400
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, R...	OMIM:137920
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Synophrys	OMIM:301066
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the...	ORPHA:672
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Tuberous Sclerosis 2	Precocious puberty, Hypothyroidism, Adenoma sebaceum	OMIM:613254
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow, Sparse pub...	OMIM:618419
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Type I diabetes mellitus	OMIM:619269
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Abnormal...	ORPHA:268261
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia	OMIM:601457
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
Aicardi Syndrome	Precocious puberty, Delayed puberty, Sparse lateral eyebrow	ORPHA:50
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Tolchin-Le Caignec Syndrome	Precocious puberty, Thick eyebrow, Hirsutism	OMIM:618971
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Hypohidrosis, Bilateral breast hypop...	ORPHA:69085
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Sparse hair	OMIM:616682
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Neurofibromatosis Type 1	Abnormal hair quantity, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, ...	ORPHA:636
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter...	ORPHA:438213
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Wolf-Hirschhorn Syndrome	Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Low posterior hairline, A...	OMIM:194190
Aicardi Syndrome	Precocious puberty, Sparse lateral eyebrow	OMIM:304050
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus	OMIM:601186
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level	ORPHA:353298
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia	ORPHA:251009
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Thick eyebrow, Hypospadias, Premature thelarche, Highly arched eyebrow, Bilateral ...	OMIM:180849
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Ataxia-Telangiectasia	Decreased circulating antibody level	ORPHA:100
Faundes-Banka Syndrome	Sparse scalp hair, Premature thelarche, Cryptorchidism, Delayed puberty, Broad eyebrow	OMIM:619376
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c...	ORPHA:540
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati...	ORPHA:330015
Early Infantile Epileptic Encephalopathy	Precocious puberty, Micropenis	ORPHA:1934
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:90695
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level	OMIM:615122
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele	ORPHA:2044
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D...	ORPHA:572
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Decreased circulating antibody level	OMIM:617780
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level	OMIM:601495
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti...	ORPHA:904
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Wolfram Syndrome 2	Diabetes mellitus, Oligomenorrhea, Primary amenorrhea	OMIM:604928
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Kabuki Syndrome 1	Highly arched eyebrow, Premature thelarche, Sparse eyebrow, Cryptorchidism, Prominent eyelashes, ...	OMIM:147920
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level	OMIM:619750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:619381
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Klippel-Trénaunay Syndrome	Abnormality of the menstrual cycle	ORPHA:90308
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Immunodeficiency 12	Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Sponastrime Dysplasia	Precocious puberty, Hypothyroidism, Hypospadias	ORPHA:93357
17Q11 Microdeletion Syndrome	Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone level, Pheochr...	ORPHA:97685
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part...	OMIM:618986
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:443811
Autosomal Agammaglobulinemia	Agammaglobulinemia	ORPHA:33110
Malakoplakia	Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle	ORPHA:556
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
X-Linked Agammaglobulinemia	Agammaglobulinemia	ORPHA:47
Wilson Disease	Abnormality of the menstrual cycle	ORPHA:905
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ...	ORPHA:1521
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Thymoma	Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circulating antibody...	ORPHA:99867
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level	OMIM:242900
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:95494
Macrocephaly/Autism Syndrome	Decreased circulating antibody level	OMIM:605309
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Decreased circulating antibody level	OMIM:243150
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level	OMIM:615952
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Hereditary Folate Malabsorption	Decreased circulating antibody level	ORPHA:90045
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio...	ORPHA:79329
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ...	OMIM:614527
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl...	ORPHA:709
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut...	OMIM:261540
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level	OMIM:617425
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas...	ORPHA:2298
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Decreased circulating antibody level	OMIM:618183
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased circulating in...	OMIM:256040
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati...	ORPHA:79124
Cowden Syndrome 1	Decreased circulating antibody level	OMIM:158350
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Good Syndrome	Decreased circulating antibody level	ORPHA:169105
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased circulating antibody level, Abnormality of humoral immunity, Incr...	ORPHA:470
Postinfectious Vasculitis	Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase...	ORPHA:48435
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased circulating antibody level	ORPHA:293978
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ...	OMIM:242840
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating antibody level	ORPHA:247598
Trichothiodystrophy	Panhypogammaglobulinemia	ORPHA:33364
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia	OMIM:307200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Cartilage-Hair Hypoplasia	Decreased circulating antibody level	ORPHA:175
Trichohepatoenteric Syndrome 1	Decreased circulating antibody level	OMIM:222470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	ORPHA:935
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita...	OMIM:618280
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level	ORPHA:79396
Primary Sjögren Syndrome	Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating...	ORPHA:289390
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615688
Common Variable Immunodeficiency	Decreased circulating antibody level	ORPHA:1572
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Abnormality of the menstrual cycle	ORPHA:906
Autoimmune Polyendocrinopathy Type 4	Decreased circulating antibody level	ORPHA:227990
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level	OMIM:274000
Hennekam Syndrome	Decreased circulating antibody level	ORPHA:2136
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Autoimmune Polyendocrinopathy Type 3	Decreased circulating antibody level	ORPHA:227982
Nijmegen Breakage Syndrome	Dysgammaglobulinemia	OMIM:251260
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Alopecia of...	OMIM:130050
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Syndromic Diarrhea	Panhypogammaglobulinemia	ORPHA:84064
Hypermobile Ehlers-Danlos Syndrome	Cystocele, Decreased fertility, Abnormality of the menstrual cycle	ORPHA:285
African Trypanosomiasis	Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of...	ORPHA:3385
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level	ORPHA:99843
Norrie Disease	Diabetes mellitus, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puberty	ORPHA:649
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus	OMIM:236680
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Decreased circulating antibody level	ORPHA:261552
Spastic Paraplegia 5A, Autosomal Recessive	Optic atrophy	OMIM:270800
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea	OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3	Bile duct proliferation	ORPHA:79302
Autosomal Recessive Spastic Paraplegia Type 5A		ORPHA:100986

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 Cyp7b1

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 Cyp7b1.

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

Title	Journal	IMPC Allele	PubMed ID
mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5.	Molecular Therapy. Methods & Clinical Development (October 2019)	Cyp7b1^{tm1b(EUCOMM)Wtsi}	PMC6888748
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae.	The Journal of comparative neurology (October 2019)	Cyp7b1^{tm1b(EUCOMM)Wtsi}	31609468

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cyp7b1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cyp7b1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cyp7b1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cyp7b1 MGI:104978

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

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Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

Adult LacZ

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X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Cyp7b1 mutations

Histopathology

IMPC related publications

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