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Gene: Csnk2a2 MGI:88547

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Gene Summary

Name:
casein kinase 2, alpha prime polypeptide
Synonyms:
CK2,  1110035J23Rik

Order Alleles

IMPC Data Collections

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
abnormal testis morphology Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Csnk2a2em1(IMPC)Mbp HOM Early adult 2.70×10-13
decreased circulating glucose level Csnk2a2em1(IMPC)Mbp HOM Early adult 2.61×10-06
male infertility Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Csnk2a2em1(IMPC)Mbp HOM Early adult 2.14×10-10
abnormal heart morphology Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
small testis Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating triglyceride level Csnk2a2em1(IMPC)Mbp HOM Early adult 1.67×10-05
decreased anxiety-related response Csnk2a2em1(IMPC)Mbp HOM Early adult 7.12×10-06
decreased thigmotaxis Csnk2a2em1(IMPC)Mbp HOM Early adult 4.84×10-05
increased circulating bilirubin level Csnk2a2em1(IMPC)Mbp HOM Early adult 3.27×10-06
abnormal spleen morphology Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Csnk2a2em1(IMPC)Mbp HOM Early adult 4.89×10-05
enlarged heart Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00
small heart Csnk2a2em1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

91 Images

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X-ray

XRay Images Whole Body Lateral Orientation

29 Images

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Human diseases caused by Csnk2a2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Csnk2a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... OMIM:618433
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia ORPHA:98797
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Spermatogenic Failure 17
Male infertility OMIM:617214
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spermatogenic Failure 77
Cryptorchidism, Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia OMIM:620103
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Young Syndrome
Azoospermia OMIM:279000
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... ORPHA:320391
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Testicular atrophy, Primary... ORPHA:52901
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Male infertility OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia OMIM:229070
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased... OMIM:620010
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bilirubin,... OMIM:619868
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia ORPHA:2274
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Premature Ovarian Failure 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased testicular size, Primary amen... OMIM:612885
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ethanolaminosis
Cardiomegaly OMIM:227150
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms OMIM:614874
47,Xyy Syndrome
Cryptorchidism, Micropenis, Varicocele, Azoospermia, Male infertility, Macroorchidism, Oligosperm... ORPHA:8
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly OMIM:619874
Malaria
Anemia, Hyperbilirubinemia, Gait imbalance, Thrombocytopenia, Elevated circulating C-reactive pro... ORPHA:673
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... ORPHA:158057
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Ci... OMIM:235200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Unconjugated hy... ORPHA:79234
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Hyperbilirubinemia, Increased serum bile acid concentra... OMIM:616278
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Conjugated hyperbilirubinemia, Cirrho... OMIM:214900
Rotor Syndrome
Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Storage in he... ORPHA:3111
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Testicular mic... OMIM:228300
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:604765
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly, ... OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hypothyro... OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... OMIM:267700
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... OMIM:619256
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia, Patent ductus arteriosus OMIM:618300
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased female libido, Infertility, Abnormality of the menstrual ... ORPHA:91348
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Azoospermia OMIM:614897
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Oligospermia, Amenorrhea, Hypogonadism ORPHA:91351
Hemochromatosis, Type 2B
Elevated transferrin saturation, Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatome... OMIM:613313
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous ge... ORPHA:261519
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Erectile dysfunction, Hypothyroidism, Decreased ... ORPHA:465508
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Atretic gallbladder, Bile duct proliferation, Hepato... OMIM:210500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Atrial septal defect, Attention deficit hyperactivity disorder, Increased C-pepti... OMIM:620211
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Adrenal hypoplasia, Cholestasis, Decreased circulating cortisol level, Decreased resp... OMIM:609734
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Lead Poisoning
Abnormal sperm morphology, Reduced sperm motility, Decreased male libido, Decreased female libido... ORPHA:330015
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Kennedy Disease
Abnormal circulating lipid concentration, Testicular atrophy, Gait disturbance, Decreased fertili... ORPHA:481
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea ORPHA:1445
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepa... OMIM:603553
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Cl... ORPHA:90797
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia, Increased... OMIM:232700
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... ORPHA:754
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Cholestasis, Hypermethioninemia, Elevated circu... OMIM:614300
Isolated Polycystic Liver Disease
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Intrahepatic cholestasis, Hypertyrosinemia, Hyperthreoninemia, Hypermethion... OMIM:605814
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Neonatal insulin-dependent diabetes ... ORPHA:1667
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He... ORPHA:400
Bachmann-Bupp Syndrome
Cryptorchidism, Attention deficit hyperactivity disorder, Hyperbilirubinemia, Aggressive behavior... OMIM:619075
Distal Xq28 Microduplication Syndrome
Anxiety, Attention deficit hyperactivity disorder, Tip-toe gait, Aggressive behavior, Patent fora... ORPHA:293939
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Ascites, Increased total bilirubin ORPHA:890
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Decreased fertility in females, Cryptorchidism, Premature ovaria... ORPHA:79239
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... ORPHA:247598
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased circulati... OMIM:618892
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatomegaly, Splenomegaly, Hypertrigl... OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Cholecystitis, Normochromic ane... OMIM:235700
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... ORPHA:822
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Irritability, Hyperbilirubinemia, Increased serum bile acid concentrati... OMIM:619685
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Decreased testicular size, Hypergonadotropic hypogonadism ORPHA:280679
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Ambiguous genitalia, Infertility, Female pseudohermaphroditism, Oligospermia, Pre... ORPHA:786
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, Ovotestis, Bicornuate uterus, True hermaphroditism, Sex revers... OMIM:400045
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased... OMIM:618838
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hep... OMIM:266200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, Ataxia, Choreoathetosis, Irritabili... OMIM:612126
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Ascites, Increased total bilirubin OMIM:174050
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop... OMIM:620135
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Delayed puberty, Hepatic fibrosis, Hepatomegaly, Irritability, Cirrhosi... ORPHA:369
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... OMIM:613812
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... OMIM:182900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Periportal fibrosis... OMIM:251880
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Restrictive cardiomyopathy, Endocardial fibroelastosis, Ante... ORPHA:2022
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, Cir... OMIM:607765
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, I... ORPHA:263458
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Attention deficit hyperactivity disorder, Insulin resistance, Neonat... ORPHA:73272
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating alpha-fetoprotein concentration, Cholestasis, Bile duct proliferat... OMIM:619662
Carnitine Deficiency, Systemic Primary
Hyperammonemia, Decreased carnitine level in liver, Cardiomyopathy, Recurrent hypoglycemia, Hepat... OMIM:212140
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... OMIM:243300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Azoospermia, Small scr... OMIM:308700
Glycogen Storage Disease Iii
Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kinase concentratio... OMIM:232400
49,Xyyyy Syndrome
Decreased testicular size, External genital hypoplasia, Abnormality of the testis size, Azoosperm... ORPHA:99330
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Irritability, Splenomegaly, Microcytic anemia, Hepatit... ORPHA:848
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... ORPHA:2137
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Primary amenorrhe... ORPHA:432
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Extramedullary hematopoiesis, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonata... ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Cholestatic liver disease, Glycosuria, Ventricular septal defect, Nephrogenic diabetes ... OMIM:613404
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Hereditary Elliptocytosis
Jaundice, Reticulocytosis, Elliptocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Pro... ORPHA:288
Liver Failure, Infantile, Transient
Jaundice, Hepatomegaly, Irritability, Hyperbilirubinemia, Microvesicular hepatic steatosis, Macro... OMIM:613070
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Increased total... OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Conjugated hyperbilirubi... OMIM:211600
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Dysphagia, Elevated circulating creatine kinase concentr... OMIM:313200
Growth Hormone Insensitivity Syndrome
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Hypoplasia of penis, Type II diabetes mellit... ORPHA:181393
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:251510
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... OMIM:616649
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Jaundice, Cholestasis, Bile duct proliferation, Cirrhosis, Hyperbilirubinemia ORPHA:79302
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia ORPHA:85450
Hsd10 Mitochondrial Disease
Restlessness, Agitation, Hypertrophic cardiomyopathy, Hypoglycemia, Aggressive behavior, Choreoat... OMIM:300438
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased circulating prolactin concentration, Attention deficit hyperactivity disorder, ... ORPHA:90674
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hyperalaninemia, Hepatomegaly, Irrita... ORPHA:348
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugat... OMIM:601847
Glycogen Storage Disease Xii
Delayed puberty, Reduced haptoglobin level, Jaundice, Normocytic anemia, Anemia, Hepatomegaly, El... OMIM:611881
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Hepatomegaly, Cardiomegaly, Aggressive behavior, Sp... OMIM:252920
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Ataxia, Agitation, Cardiomyopathy, Hyperalaninemia, Macrocytic anemia, Hyp... OMIM:619046
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... OMIM:255120
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... OMIM:603552
Abetalipoproteinemia
Steppage gait, Hepatomegaly, Hypothyroidism, Abnormal circulating apolipoprotein concentration, B... ORPHA:14
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Goiter, Prolonged neonatal jaundice, Decreased circulating T4 concentration, Conjugated hyperbili... ORPHA:95715
Trimethylaminuria
Neutropenia, Depression, Splenomegaly, Anemia OMIM:602079
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Abnormality of the pancreas, Hyperbilirubinemia, I... ORPHA:69665
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Hyperbilirubinemi... OMIM:614886
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Hypoglycemia, Decreased plasma free carnitine, Enlarged kidney, Nonketotic hypogl... OMIM:608836
Gapo Syndrome
Dysmenorrhea, Oligospermia, Amenorrhea, Hypogonadism ORPHA:2067
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue h... OMIM:607616
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly OMIM:614480
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Familial Thyroid Dyshormonogenesis
Goiter, Positive perchlorate discharge test, Prolonged neonatal jaundice, Decreased circulating T... ORPHA:95716
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Delayed puberty, Cholestasis, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ... ORPHA:370
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hepatomeg... OMIM:616828
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly, Restrictive cardiomyopathy... OMIM:607685
Combined Oxidative Phosphorylation Deficiency 10
Hyperammonemia, Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:614702
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... ORPHA:95717
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Hyperbili... OMIM:185000
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating fumarate concentration, Atrial septal defect, Hyperalaninemi... OMIM:615160
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly OMIM:615010
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia OMIM:619170
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperalaninemia, Elevated circulating creatine kinase concentration, Adrenal insuff... OMIM:619386
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Ataxia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic... ORPHA:42
Hepatocellular Carcinoma
Polycythemia, Hepatomegaly, Hypokalemia, Hepatic necrosis, Emotional lability, Liver abscess, Abn... ORPHA:88673
Pparg-Related Familial Partial Lipodystrophy
Oligomenorrhea, Maternal diabetes, Dysmenorrhea, Hyperuricemia, Primary amenorrhea, Diabetes mell... ORPHA:79083
Splenoportal Vascular Anomalies
Hyperammonemia, Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous sys... OMIM:271500
Senior-Boichis Syndrome
Hepatosplenomegaly, Suicidal ideation, Anemia, Cholestasis, Agitation, Congenital hepatic fibrosi... ORPHA:84081
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Left ventricular hypertrophy, Increased circulating creatine kinase MB i... OMIM:300280
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Cholelithiasis OMIM:605479
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Hyperbilirubinemia, Gait disturbance OMIM:301094
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Atrial septal defect, Ventricular septal defect, Nephrogenic... OMIM:208085
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Apathy, Ataxia, Hyperalaninemia, Hepatomegaly, Tip-toe gait, E... ORPHA:3008
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Prima... ORPHA:99429
Glycogen Storage Disease Vii
Jaundice, Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglyc... OMIM:232800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Leukocytosis, Reticulocytosis, Heinz ... OMIM:300908
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating... OMIM:617872
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... OMIM:613986
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites ORPHA:858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hyperammonemia, Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase conce... OMIM:201475
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Cirrhosis, Conjug... OMIM:617049
Liver Disease, Severe Congenital
Peritonitis, Atrial septal defect, Ventricular septal defect, Elevated circulating alpha-fetoprot... OMIM:619991
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... OMIM:613101
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Hyperbilirubinemia, Hyperglycemia, Biliary... OMIM:615710
Galactokinase Deficiency
Hepatosplenomegaly, Premature ovarian insufficiency, Hypergalactosemia, Increased level of galact... ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Hyperammonemia, Hyperalaninemia, Ventricular hypertrophy, Hypertrophic cardiomyopath... OMIM:619051
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligospermia OMIM:614813
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hepatomegaly, Hyperalaninemia OMIM:619064
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Leukocytosis, Reticulocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Hypermanganesemia With Dystonia 1
Polycythemia, Steppage gait, Hepatomegaly, Hypermanganesemia, Cirrhosis, Unconjugated hyperbiliru... OMIM:613280
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegal... ORPHA:100025
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Abnormality of the liver, Hepatomegaly, Conjugated hyperbili... ORPHA:234
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90793
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Spl... OMIM:613027
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Irritabilit... OMIM:259720
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Decreased serum bile acid co... OMIM:214950
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Graft Versus Host Disease
Hepatosplenomegaly, Acute hepatitis, Jaundice, Chronic hepatitis, Hemophagocytosis, Irritability,... ORPHA:39812
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... ORPHA:53035
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugat... ORPHA:567983
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration, Hyperbilirubinemia ORPHA:713
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hypophosphatemia, Intrahepatic cholestasis, Glycosuria, Hypouricemia, Postp... OMIM:227810
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hemolytic... ORPHA:71275
Cholesteryl Ester Storage Disease
Jaundice, Adrenal calcification, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hyp... ORPHA:75234
Caroli Syndrome
Cholangitis, Jaundice, Leukocytosis, Leukopenia, Liver abscess, Intrahepatic cholestasis, Abnorma... ORPHA:480520
Wilson Disease
Hemolytic anemia, Hypouricemia, Hypoparathyroidism, Hepatomegaly, Hyperbilirubinemia, Thrombocyto... OMIM:277900
Neuraminidase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Dysme... OMIM:256550
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Cholestasis, Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Cirrh... OMIM:617156
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cardiomyopathy, Gait ataxia, Cardiomegaly, ... OMIM:619259
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased testicular size, Cryptorchidism, Penoscrotal hypospadias, Ambiguous genitalia, male, Cl... ORPHA:90791
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Cholestasis, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ... ORPHA:264580
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Propionic Acidemia
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Hypoglycemia ORPHA:35
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Pancytopenia, I... OMIM:300635
Mcleod Syndrome
Reduced haptoglobin level, Cardiomyopathy, Anxiety, Hepatomegaly, Elevated circulating creatine k... OMIM:300842
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased testicular size, Hypergonadotropic hypogonadism OMIM:300845
Glycogen Storage Disease Ixb
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Diabetes mellitus, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hypertriglycerid... ORPHA:2348
Hsd10 Disease, Infantile Type
Hyperammonemia, Restlessness, Loss of ambulation, Dysphagia, Hypertrophic cardiomyopathy, Cardiom... ORPHA:391428
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Decreased testicular size, Hypogonadism, Ataxia, Hepatomegaly, Irritability, ... OMIM:201100
Cirrhotic Cardiomyopathy
Jaundice, Left atrial enlargement, Left ventricular hypertrophy, Alcoholism, Abnormal B-type natr... ORPHA:57777
Hardikar Syndrome
Atrial septal defect, Ventricular septal defect, Cholestasis, Hepatomegaly, Prolonged neonatal ja... OMIM:301068
Primary Lipodystrophy
Polycystic ovaries, Cardiomyopathy, Pancreatitis, Cirrhosis, Hyperlipidemia, Menometrorrhagia, Ty... ORPHA:90970
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Inability to walk, Hemolytic anemia, Ataxia, Hepatomegaly, Conjugated hyperbilirubinemi... OMIM:608885
Wolfram Syndrome 1
Testicular atrophy, Megaloblastic anemia, Ataxia, Diabetes mellitus, Cardiomyopathy, Diabetes ins... OMIM:222300
Isolated Biliary Atresia
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... ORPHA:30391
Myopathy With Extrapyramidal Signs
Leukocytosis, Hyperactivity, Ataxia, Ventricular septal defect, Choreoathetosis, Difficulty walki... OMIM:615673
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... ORPHA:98870
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Anemia ORPHA:75563
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... OMIM:618652
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Elevated circulating phytanic acid concentration, Cryptorchidism, Jaundice, I... OMIM:614866
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Patent foramen ovale, Hypothyroidis... OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating gamma-aminobutyric acid concentration, Hepatic bridgi... OMIM:619658
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Oligomenorrhea, Dysmenorrhea, Hepatocellular carcinoma, Fasting hypoglycemia, Ketotic hypoglycemi... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Relapsing Fever
Jaundice, Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated... ORPHA:91547
Beck-Fahrner Syndrome
Ventricular septal defect, Anxiety, Attention deficit hyperactivity disorder, Cardiomegaly, Depre... OMIM:618798
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly OMIM:231000
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi... ORPHA:2585
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, A... ORPHA:860
Nephrotic Syndrome, Type 14
Cryptorchidism, Micropenis, Hypogonadism, Ataxia, Lymphopenia, Hypertriglyceridemia, Adrenal insu... OMIM:617575
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Cardiac myxoma, Cardiomegal... ORPHA:615
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, C... ORPHA:324410
8P11.2 Deletion Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Azoospermia, Patent ductus arteriosus, Hypogon... ORPHA:251066
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Jaundice, Hyperammonemia, Intrahepatic cholestasis, Hepatic fibrosis, Conjugated hyperbilirubinem... OMIM:617093
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hyperammonemia, Cardiomyopathy, Hepatomegaly, Irritability, Elevated circu... OMIM:212138
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Steatorrhea, Neutropenia, Hepatomegaly, Reticulocytopeni... OMIM:557000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Choreoathetosis, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytop... ORPHA:79312
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... OMIM:205400
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Priapis... OMIM:603903
Wilson Disease
Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, A... ORPHA:905
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligospermia, Male infertility ORPHA:125
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Hyperlipi... ORPHA:91
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Adrenal ca... OMIM:278000
Ogden Syndrome
Secundum atrial septal defect, Maternal diabetes, Polycythemia, Enlarged kidney, Ventricular sept... OMIM:300855
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral cryptorchidism, Male in... ORPHA:1772
Attrv122I Amyloidosis
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Increased circulating NT-proBNP concen... ORPHA:85451
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Ventricular septal defect, Agitation, Broad-based gait, Emotional lability, Suic... OMIM:619475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperammonemia, Decreased plasma free carnitine, Cardiomyopathy, Elevated circulating acylcarniti... ORPHA:228308
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Atrial septal defect, Ventricular septal defect, Anemia, Hyperbilirub... ORPHA:163979
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Micropenis, Tetralogy of Fallot, Ventricular septal defect, Neutropenia, Double o... ORPHA:163956
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Goiter, Compensated hypothyroidism, Prolonge... ORPHA:90673
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadenitis, Increased circulating ferritin ... OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, V... OMIM:602782
Dominant Beta-Thalassemia
Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Hypot... ORPHA:231226
Whipple Disease
Myocarditis, Pericarditis, Ataxia, Anemia, Hepatomegaly, Splenomegaly, Erectile dysfunction, Poly... ORPHA:3452
Beta-Thalassemia Intermedia
Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroidism, Elevated hepat... ORPHA:231222
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia OMIM:619484
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Ataxia, Abnorma... OMIM:616113
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Decre... OMIM:613011
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Ataxia, Cardiomyopathy, Anxiety, Impotence, Cardiomegaly, Truncal ataxia OMIM:105210
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Ascites OMIM:253250
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasi... OMIM:614887
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:95619
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hypoglycemia, Chronic hepatitis, Ventricular septal defect, Intrahepatic cholest... OMIM:614921
Beta-Thalassemia Major
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroi... ORPHA:231214
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Cryptorchidism, Leydig cell neoplasia, Azoospermia, Precocious pub... ORPHA:361
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... OMIM:614736
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Decreased fertility in females, Polycystic ovaries, Clitoral hypertrophy, Hepatomegal... OMIM:269700
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Intrahepatic cholestasis, Ambiguous genitalia, male, Aca... OMIM:607330
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Ataxia, Decreased circulating follicle stimulatin... OMIM:308750
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly, Ataxia OMIM:266500
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Reynolds Syndrome
Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Lymphopenia, Hyperbilirubinemia, Biliary cirrho... OMIM:613471
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Bipolar affective disorder, Hepatomegaly, Acute promyelocytic leukemia, Cholelit... ORPHA:77293
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:617713
Degcags Syndrome
Dysplastic pulmonary valve, Ambiguous genitalia, Atrial septal defect, Ventricular septal defect,... OMIM:619488
Cranioectodermal Dysplasia 2
Cholangitis, Left ventricular hypertrophy, Atrial septal defect, Cholestasis, Bile duct prolifera... OMIM:613610
Primary Biliary Cholangitis
Hepatocellular carcinoma, Abnormal circulating lipid concentration, Jaundice, Abnormality of the ... ORPHA:186
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Abnormal heart morphology, Hyperbilirubinemia, Thrombocytopenia, Hypert... ORPHA:464321
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased size of the clitoris, Cryptorchidism, Micropenis, Ambiguous genitalia, Primary amenorrh... ORPHA:95699
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Neutropenia, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Abnormal na... ORPHA:158061
Glycogen Storage Disease Ii
Difficulty walking, Increased circulating creatine kinase MB isoform, Increased circulating NT-pr... OMIM:232300
Pediatric-Onset Graves Disease
Emotional lability, Goiter, Graves disease, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:525731
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Neutropenia, Fulminant hepatitis, Hepatomegaly, Thrombocytopen... OMIM:308240
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis,... ORPHA:829
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Secundum atrial septal defect, Ventricular septal defect, Cholestasis, At... OMIM:619534
Solitary Fibrous Tumor
Abnormality of the peritoneum, Uterine neoplasm, Neoplasm of the liver, Abnormal prostate morphol... ORPHA:2126
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Apathy, Anemia, Hepatomegaly, Dysphagia, Thrombocytopenia, Akinesia, Cardiome... OMIM:608013
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Pancreatitis, Hypo... ORPHA:90038
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Decreased fertility in females, Diabetes mellitus, Polycystic ovaries, Cardiomyopathy... OMIM:608594
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome... ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Decreas... OMIM:618839
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Abnormal sperm m... ORPHA:1359
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Jaundice, Ataxia, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia... ORPHA:168577
Sandhoff Disease
Hepatosplenomegaly, Ataxia, Hepatomegaly, Impotence, Cardiomegaly OMIM:268800
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Hypoglyc... OMIM:618835
Fumarase Deficiency
Polycythemia, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hyperbilirubine... OMIM:606812
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Abnormality of the ductus choledochus, Pancreatitis, Cholester...