Gene Summary

Name:
nuclear receptor subfamily 0, group B, member 2
Synonyms:
SHP,  small heterodimer partner,  SHP-1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased IgA level Nr0b2Nr0b2 HOM Early adult 6.20×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Nr0b2 mutations

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

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

The table below shows human diseases associated to Nr0b2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity
Obesity, Increased waist to hip ratio OMIM:601665

The table below shows human diseases predicted to be associated to Nr0b2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Irregular menstruation, Premature pubarche, ... ORPHA:90795
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
46,Xx Sex Reversal 5
Increased serum testosterone level, Urogenital sinus anomaly, Ambiguous genitalia OMIM:618901
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Cortisone Reductase Deficiency 2
Premature pubarche OMIM:614662
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Glycogen Storage Disease Vi
Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepatic glycogen co... OMIM:232700
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Congenital hypothyroidism OMIM:614736
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Central Precocious Puberty
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty ORPHA:759
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163976
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fib... OMIM:614480
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... OMIM:201810
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619707
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Miscarriage, Congenital adrenal hyperplasia, Hydrocele testis... ORPHA:96181
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Temple Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Type II diabetes mellitus,... ORPHA:254516
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Male hypog... ORPHA:163971
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:613502
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia,... ORPHA:786
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hyperinsulinemia, Long penis, Insulin-resistant diabetes mellitus, Precoci... OMIM:262190
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Elevated hepatic transamin... OMIM:214900
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Pituitary Gigantism
Premature pubarche, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary prolactin... ORPHA:99725
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Infertility, Small scrotum, Primary amenorrhea, Premature pubarche, Centra... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism ORPHA:280195
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia OMIM:613500
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgE level OMIM:619632
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty ORPHA:254531
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:98754
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Supernumerary nipple, Precocious puberty OMIM:619243
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Precocious puberty, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:177904
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:177901
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
Ollier Disease
Precocious puberty ORPHA:296
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated h... OMIM:235555
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:398073
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central adrenal insuffic... ORPHA:739
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... ORPHA:71
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Precocious puberty ORPHA:96184
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, ... ORPHA:528
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Infertility, Small scrotum, Primary amenorrhea, Premature pubarche, Centra... ORPHA:398069
Donohue Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long penis, Ovarian cyst, Precocious puberty... OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Decreased testicular size, Precocious puberty, Abnorm... ORPHA:813
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Increased circulatin... OMIM:618156
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Abnormal salivary gland morphology, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:2298
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Elevated hepatic tr... OMIM:613812
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Elevated gamma-... OMIM:619481
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Small scrotum, Primary amenorrhea, Hypogonadotropic hypogonad... OMIM:176270
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating total IgA... OMIM:618969
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:619281
Ane Syndrome
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... ORPHA:157954
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty ORPHA:447980
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:147480
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hypothyroidism, Precocious puberty, Hypospadias ORPHA:254346
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Elevated circulating fumarate concentration, Inc... OMIM:615160
Angiostrongyliasis
Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated gamma-gl... OMIM:603471
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
46,Xy Sex Reversal 8
Cryptorchidism, Sex reversal, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Hepatomegaly, Jaun... OMIM:616278
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Ovarian neoplasm, Precocious puberty, Metrorrhagia, Pa... ORPHA:370348
Immunodeficiency 14A, Autosomal Dominant
Decreased circulating IgG2 level, Decreased specific pneumococcal antibody level, Increased circu... OMIM:615513
Combined Oxidative Phosphorylation Deficiency 30
Elevated hepatic transaminase, Gastroesophageal reflux, Decreased liver function, Hyperalaninemia OMIM:616974
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Hyperlipoproteinemia, Type V
Decreased LDL cholesterol concentration, Increased circulating chylomicron concentration, Increas... OMIM:144650
Congenital Bile Acid Synthesis Defect Type 2
Increased circulating lactate dehydrogenase concentration, Hepatic failure, Hepatic steatosis, Ch... ORPHA:79303
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating cre... OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Chronic diarrhea, Conjugated hyper... OMIM:619484
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Elevated hepat... ORPHA:369
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Steatorrhea OMIM:618752
Kimura Disease
Increased circulating IgE level ORPHA:482
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Elevated transferrin saturation, Elev... OMIM:613313
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Abnormality of female external genitalia, Male pseudohermap... ORPHA:90790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Smith-Magenis Syndrome
Hypothyroidism, Delayed puberty, Precocious puberty ORPHA:819
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Elevated... ORPHA:567983
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hepatitis, Fulminant Viral, Susceptibility To
Nausea, Hepatic failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fulminant hepatitis OMIM:618549
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevate... OMIM:210500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eleva... ORPHA:3044
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration ORPHA:356961
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Hypoplasia... OMIM:241080
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration OMIM:300752
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:618394
Myhre Syndrome
Abnormal penis morphology, Cryptorchidism, External genital hypoplasia, Precocious puberty, Episp... ORPHA:2588
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Hypogonadotropic hypogonadism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Carpenter Syndrome 1
Cryptorchidism, Precocious puberty, External genital hypoplasia OMIM:201000
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty ORPHA:261652
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased circulating lactate dehydrogenase concentration, Gastrointestinal hemorrhage, Cholestas... ORPHA:247598
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Precocious puberty, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Hypocholesterolemia, Elevated circulating creatine kinase concentration, De... ORPHA:96180
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Micropenis, Decreased circulating cortisol level, Thyroid dys... OMIM:146510
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Precocious puberty, Hyperhidrosis, Decreased response to growth hormone stimulati... ORPHA:96182
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Hepatomegaly, Elevated hepatic trans... OMIM:613027
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:600903
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Bifid Nose With Or Without Anorectal And Renal Anomalies
Rectovaginal fistula, Precocious puberty OMIM:608980
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly ORPHA:156
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Hypoalbuminemi... OMIM:212065
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche ORPHA:2976
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatosplenomegaly, Hepatic failure,... ORPHA:79302
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Elevated hepatic transaminase ORPHA:2089
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Increased circulating IgG level, Bone marrow hypoc... ORPHA:443811
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperthyroidism, Elevated circulating growth ... ORPHA:249
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of female external genitalia, Precocious puberty ORPHA:2637
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypothyroidism, Premature pubarche OMIM:616878
Bainbridge-Ropers Syndrome
Cryptorchidism, Supernumerary nipple, Precocious puberty OMIM:615485
Abetalipoproteinemia
Hepatic steatosis, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hepatomegaly, De... ORPHA:14
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia, Vomiting OMIM:616483
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619752
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Abnormal circulating interleuki... ORPHA:3261
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Increased serum testosterone level, Long penis, Hypospadias OMIM:264090
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:619510
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Hypospadias, Type II diabetes mellitus OMIM:210720
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia OMIM:615453
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Bone marrow hypocellularity, In... ORPHA:2442
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Micropenis, Decreased serum testosterone concentration, Decreased serum estradio... ORPHA:2959
Tuberous Sclerosis 1
Hypothyroidism, Precocious puberty, Adenoma sebaceum OMIM:191100
Multiple Myeloma
Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ... ORPHA:29073
Alexander Disease
Hypothyroidism, Precocious puberty, Diabetes mellitus, Hyperhidrosis ORPHA:58
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Labial hypertrophy ORPHA:96191
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:616100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatin... ORPHA:71212
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Hepatic fibrosis, Cholestasis, Hypercholesterolemia, Hepatomegaly, Elevated ci... ORPHA:370
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus OMIM:619269
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Increased serum testosterone level, Hyperthyroidis... ORPHA:3455
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Tuberous Sclerosis 2
Hypothyroidism, Precocious puberty, Adenoma sebaceum OMIM:613254
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased circulating tota... ORPHA:169160
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Hepatocellular necr... OMIM:251880
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Increased circulating IgM ... OMIM:308240
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypoparathyroidism ORPHA:369837
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Eleva... OMIM:602347
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Hyper-Igd Syndrome
Increased circulating IgA level, Increased circulating IgD level OMIM:260920
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Hepatomegaly, Conjugated hyperb... OMIM:616860
Angelman Syndrome
Delayed menarche, Precocious puberty in females ORPHA:72
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Hepatic steatosis, Hepatic fibrosis, Cholestasis, Hypercholesterolemia, Hepatomegaly, Ele... ORPHA:264580
Immunodeficiency 92
Decreased circulating IgG level, Abnormal B cell proliferation, Partial absence of specific antib... OMIM:619652
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Isolated Biliary Atresia
Cholestasis, Elevated gamma-glutamyltransferase level, Bile duct proliferation, Periportal fibros... ORPHA:30391
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Nausea, Hepatic fibrosis, Hypercholesterolemia, Hepatomegaly, Elevated circulating creatine kinas... ORPHA:79240
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Tay-Sachs Disease
Precocious puberty ORPHA:845
Hypophosphatemic Rickets
Hyperthyroidism, Parathyroid hyperplasia, Precocious puberty, Hyperparathyroidism, Elevated circu... ORPHA:437
Smith-Lemli-Opitz Syndrome
Small scrotum, Septate vagina, Cryptorchidism, Micropenis, Precocious puberty, Bifid scrotum, Amb... OMIM:270400
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Precocious puberty OMIM:301066
Kabuki Syndrome
Cryptorchidism, Precocious puberty, Hypospadias, Hypoplasia of penis ORPHA:2322
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Reynolds Syndrome
Biliary cirrhosis, Gastrointestinal hemorrhage, Hepatomegaly, Jaundice, Calcinosis, Hyperbilirubi... OMIM:613471
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Cryptorchidism, Testicular neoplasm, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Cryptorchidism, Testicular neoplasm, ... ORPHA:363958
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Hepatomegaly, Jaundi... OMIM:617394
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Abnormal immunoglobulin level, ... ORPHA:276
Alg12-Cdg
Hyponatremia, Failure to thrive, Elevated hepatic transaminase, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Pallister-Hall Syndrome
Primary adrenal insufficiency, Cryptorchidism, Panhypopituitarism, Central adrenal insufficiency,... ORPHA:672
Non-Specific Syndromic Intellectual Disability
Cryptorchidism, Small scrotum, Precocious puberty ORPHA:528084
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... ORPHA:86816
Aicardi Syndrome
Delayed puberty, Precocious puberty ORPHA:50
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Chordee, Cryptorchidism, Micropenis, Posterior pituitary hypoplasia, Shawl scrotu... ORPHA:268261
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegaly, Xanthelasma, ... ORPHA:412
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Reduced natural killer cell activity, Increased circulating antibo... OMIM:615559
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Postinfectious Vasculitis
Increased circulating antibody level, Increased circulating IgA level, Abnormality of humoral imm... ORPHA:48435
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Increased circulating IgM level ORPHA:79078
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgG4 level, Complement deficiency, In... ORPHA:449400
Caffey Disease
Increased circulating antibody level ORPHA:1310
Aicardi Syndrome
Precocious puberty OMIM:304050
Neurofibromatosis Type 1
Cryptorchidism, Pheochromocytoma, Precocious puberty, Delayed puberty, Abnormality of the endocri... ORPHA:636
Early Infantile Epileptic Encephalopathy
Micropenis, Precocious puberty ORPHA:1934
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... OMIM:256040
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Precocious puberty, Congenital posterior urethral va... ORPHA:2044
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cholecystitis, Peritonitis, Hepatomegaly, Jaund... ORPHA:131
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Mirizzi Syndrome
Cholelithiasis, Nausea, Cholesterol gallstones, Jaundice, Gallbladder perforation, Hyperbilirubin... ORPHA:521219
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
C3 Glomerulopathy
Decreased serum complement C4, Decreased serum complement C3, Paraproteinemia ORPHA:329918
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cirrhosis, Cholestasis, Elevated gamm... ORPHA:562639
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Decreased... OMIM:606367
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Absent specific antibody respon... OMIM:102700
Faundes-Banka Syndrome
Cryptorchidism, Delayed puberty, Premature thelarche OMIM:619376
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Abnormality of the anterior pituitary, Cryptorchidism, Uterine prolapse, Increase... ORPHA:438213
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level OMIM:243700
Caroli Syndrome
Hepatic failure, Portal hypertension, Cirrhosis, Cholangitis, Cholangiocarcinoma, Conjugated hype... ORPHA:480520
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:210900
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Agam... OMIM:300755
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Williams Syndrome
Cholelithiasis, Hypogonadotropic hypogonadism, Hypothyroidism, Polycystic ovaries, Cryptorchidism... ORPHA:904
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Hypospadias OMIM:194190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:614700
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty, Hypospadias ORPHA:93357
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Partial IgA deficiency, Lack of... ORPHA:35078
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating antibody ... ORPHA:221139
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone... ORPHA:273
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:79330
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Kabuki Syndrome 1
Cryptorchidism, Micropenis, Congenital hypothyroidism, Anoperineal fistula, Premature thelarche OMIM:147920
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
17Q11 Microdeletion Syndrome
Pheochromocytoma, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid horm... ORPHA:97685
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased circulating IgA leve... OMIM:208900
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Hypoplastic labia minora, Decreased serum testosterone concentration, Absent scro... ORPHA:495875
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Cryptorchidism, Micropenis, Clitoral hypoplasia, Decreas... ORPHA:97360
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Cryptorchidism, Shawl scrotum, Bifid uterus, Premature t... OMIM:180849
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:612301
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Leishmaniasis
Increased circulating antibody level ORPHA:507
Tularemia
Increased circulating antibody level ORPHA:3392
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Precocious puberty in females, Primary hyp... ORPHA:64
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... ORPHA:183675
Fructose Intolerance, Hereditary
Nausea, Hepatic steatosis, Gastrointestinal hemorrhage, Hyperuricosuria, Bicarbonaturia, Hepatome... OMIM:229600
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Bicornuate uterus, Atr... OMIM:137920
Von Hippel-Lindau Syndrome
Epididymal cyst, Paraganglioma, Papillary cystadenoma of the epididymis, Pancreatic cysts, Pheoch... OMIM:193300
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level OMIM:613327
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449432
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:125
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM ORPHA:420741
X-Linked Intellectual Disability, Snyder Type