Gene Summary

Name:
nuclear receptor coactivator 2
Synonyms:
glucocorticoid receptor-interacting protein 1,  bHLHe75,  SRC-2,  D1Ertd433e,  TIF-2,  Grip1,  TIF2/GRIP-1,  TIF2,  KAT13C

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
abnormal placenta vasculature Ncoa2em1(IMPC)Mbp HET E18.5 0.00
abnormal body wall morphology Ncoa2em1(IMPC)Mbp HOM E18.5 0.00
abnormal kidney morphology Ncoa2em1(IMPC)Mbp HET Early adult 0.00
decreased thigmotaxis Ncoa2em1(IMPC)Mbp HET Early adult 2.18×10-06
enlarged spleen Ncoa2em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Ncoa2em1(IMPC)Mbp HET E18.5 0.00
no spontaneous movement Ncoa2em1(IMPC)Mbp HET E18.5 0.00
hyperactivity Ncoa2em1(IMPC)Mbp HET   Early adult 7.75×10-08
no spontaneous movement Ncoa2em1(IMPC)Mbp HOM E18.5 0.00
abnormal umbilical cord morphology Ncoa2em1(IMPC)Mbp HOM E18.5 0.00
decreased locomotor activity Ncoa2em1(IMPC)Mbp HET Early adult 1.26×10-07
decreased anxiety-related response Ncoa2em1(IMPC)Mbp HET Early adult 6.01×10-09
increased circulating insulin level Ncoa2em1(IMPC)Mbp HET Early adult 2.73×10-05
preweaning lethality, incomplete penetrance Ncoa2em1(IMPC)Mbp HOM   Early adult 0.00
increased neutrophil cell number Ncoa2em1(IMPC)Mbp HET Early adult 1.16×10-06
abnormal skin morphology Ncoa2em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Ncoa2em1(IMPC)Mbp HET Early adult 0.00
small kidney Ncoa2em1(IMPC)Mbp HET Early adult 0.00
abnormal behavior Ncoa2em1(IMPC)Mbp HET Early adult 2.34×10-06

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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.

Gross Morphology Embryo E18.5

Images

12 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Human diseases caused by Ncoa2 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 Ncoa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, 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 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
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 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
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
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
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
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
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
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 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
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
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Smal... ORPHA:1916
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia ORPHA:2274
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
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
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Irritability, Hyperinsulinemic hypoglycemia OMIM:240800
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
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 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
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res... ORPHA:324575
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... ORPHA:276580
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... ORPHA:320391
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hepatom... ORPHA:276575
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Agitation, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperi... ORPHA:276608
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
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
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... OMIM:146110
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperi... ORPHA:35878
Insulinoma
Polyphagia, Pituitary prolactin cell adenoma, Anxiety, Fasting hyperinsulinemia, Recurrent hypogl... ORPHA:97279
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Hartnup Disorder
Emotional lability, Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity di... OMIM:234500
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... ORPHA:263458
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperglycemia, Aggressive behavior, Hyperinsulinemia ORPHA:329249
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, Hepat... ORPHA:276556
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Impulsivity, Lethargy, Aggressive behavior, Hyperglyci... OMIM:605899
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypo... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec... OMIM:308700
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Insulin resis... ORPHA:79084
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Decreased circulating follicle... OMIM:308750
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency, Anxiety, Attention deficit hyperactivity disorder, Bradykinesia OMIM:618878
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to gr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to gr... ORPHA:71526
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... ORPHA:752
Obesity And Hypopigmentation
Polyphagia, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Leydig Cell Hypoplasia
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hydroxyprolinuria, Prolinuria, Aggressive behavior, Hyperglycinuria OMIM:239500
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Gait ataxia, Hepatic steatosis,... ORPHA:363400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Hypoglycemic seizures, Hyperinsulinemia, Elevated circu... OMIM:620211
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Proteinuria, Neonatal hypoglycemia, Glycosuria, Agitation, Renal Fanconi sy... ORPHA:263455
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... OMIM:273250
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Pandas
Enuresis, Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Claustrophobia... ORPHA:66624
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the thyroid gland, Hepatomegaly, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Coproporphyria, Hereditary
Jaundice, Increased urinary porphobilinogen, Anxiety, Hepatomegaly, Elevated urinary delta-aminol... OMIM:121300
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased ... ORPHA:66628
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating hormone concentration... ORPHA:280356
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Glut1 Deficiency Syndrome 2
Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis, Irritability, Splenomegaly OMIM:612126
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly OMIM:615010
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinuria OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... OMIM:614897
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Mody
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc... ORPHA:552
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi... ORPHA:2585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Phenylketonuria
Increased level of hippuric acid in urine, Self-mutilation, Hyperactivity, Anxiety, Attention def... OMIM:261600
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ... OMIM:616030
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Hyperinsul... OMIM:262190
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Hypoplasia of penis ORPHA:2849
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Juvenile Huntington Disease
Progressive cerebellar ataxia, Hyperactivity, Ataxia, Irritability, Bradykinesia, Gait ataxia, De... ORPHA:248111
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Increased urinary disaccharide excretion OMIM:248510
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity, Agitation OMIM:309548
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Agitation ORPHA:100973
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis ORPHA:791
Galactokinase Deficiency
Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased lev... ORPHA:79237
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Micrope... OMIM:619326
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord... ORPHA:98818
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Lennox-Gastaut Syndrome
Aggressive behavior, Personality disorder, Hyperactivity, Falls ORPHA:2382
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... ORPHA:3077
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity OMIM:609425
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Ataxia, Anxiety, Self-injurio... OMIM:271980
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Lead Poisoning
Abnormal sperm morphology, Delayed puberty, Small for gestational age, Decreased male libido, Dec... ORPHA:330015
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Cirrhosis, Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Hepatic... OMIM:604367
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Graves disease, Hyperactivity, Abnormal abdomen morphology, Irritability, Inc... OMIM:275000
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly OMIM:231000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin-resistant diab... ORPHA:2298
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... ORPHA:79644
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior ORPHA:382
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath... ORPHA:100024
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria ORPHA:882
Intellectual Developmental Disorder, Autosomal Dominant 67
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity, Hypothyroidism OMIM:619927
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Nephrolithiasis, Aggressive behavior, ... OMIM:620023
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Choreoathetosis, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Letha... ORPHA:79312
Splenoportal Vascular Anomalies
Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegal... OMIM:271500
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Bangstad Syndrome
Ataxia, Increased circulating cortisol level, Primary gonadal insufficiency, Abnormality of the p... ORPHA:1227
Babesiosis
Jaundice, Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Depr... ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,... OMIM:246200
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Lymphangiectasis, Proximal tubulopathy, Hy... OMIM:602579
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Gait disturbance, Hyperactivity, Neurogenic bladder, Disinhibit... ORPHA:43
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:616860
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior OMIM:619467
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Irritability, Microcytic anemia, Hepatitis, Thrombocyt... ORPHA:848
Pediatric-Onset Graves Disease
Emotional lability, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Polyphagia, G... ORPHA:525731
Niemann-Pick Disease, Type A
Inability to walk, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Microcytic ... OMIM:257200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... OMIM:619375
Amyloidosis, Familial Visceral
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly OMIM:105200
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... ORPHA:465508
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Atelis Syndrome 2
Anemia, Anxiety, Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating... OMIM:620185
Immunodeficiency 76
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Hyperactivity, Hepatomegaly, Cardiomegaly, Aggressive behavio... OMIM:252920
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia OMIM:612716
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:615516
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Anxiety, Reduction of neutrophil motility OMIM:266265
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Reticulocytosis, Splenomegaly OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Broad-based gait, Precocious puberty ORPHA:457260
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly, Lethargy, Hypogonadotropic hypogonadism OMIM:602390
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hepa... ORPHA:528
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Happy demeanor, Broad-based gait ORPHA:411515
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Wilson Disease
Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, A... ORPHA:905
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Estrogen Resistance Syndrome
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... ORPHA:785
Alstrom Syndrome
Tubulointerstitial nephritis, Chronic active hepatitis, Multinodular goiter, Renal insufficiency,... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Fasting hyperinsulinemia, Myoglobinuria, Hypoglycemic seizures, Dicarboxyl... ORPHA:71212
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splen... OMIM:612526
Mpi-Cdg
Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Hemochromatosis, Type 2B
Hypogonadism, Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Anemia ORPHA:75563
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... OMIM:615363
X-Linked Acrogigantism
Polyphagia, Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, ... ORPHA:300373
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Impulsivity ORPHA:500180
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg... OMIM:616217
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Ataxia, Hypogonadism, Hepatomegaly, Irritability, Lethargy, Splenomegaly, Dec... OMIM:201100
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... OMIM:305400
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... OMIM:150550
Cln5 Disease
Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Aggressive ... ORPHA:228360
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Diabetes mellitus, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Nep... OMIM:608594
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hyperinsulinemia, Dysphagia, Hepatic steatosis, Insulin resistance, Splenomegaly OMIM:613327
Beta-Thalassemia Intermedia
Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Hypothyr... ORPHA:231222
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity OMIM:301013
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Aminoaciduria ORPHA:664
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Nephrolithiasis, Decre... OMIM:269700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Harderoporphyria
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... OMIM:618892
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Hepatomegal... OMIM:619644
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Nephrocalci... ORPHA:769
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior, Imp... OMIM:620141
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Acquired Generalized Lipodystrophy
Proteinuria, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Hepatic steatosis, In... ORPHA:79086
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Ataxia, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bacterici... OMIM:613470
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly, Irritability OMIM:228000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocytopenia, Lymphaden... OMIM:308240
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Prader-Willi Syndrome
Polyphagia, Delayed puberty, Micropenis, Attention deficit hyperactivity disorder, Decreased resp... OMIM:176270
Griscelli Syndrome
Jaundice, Leukopenia, Ataxia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomega... ORPHA:381
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hyperinsulinemia, Elevated urinary dopamine, Insulin resistance, Nocturia, Hypoglycemia ORPHA:230
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Citrullinemia Type Ii
Enuresis, Hepatocellular carcinoma, Abnormal eating behavior, Hyperactivity, Restlessness, Pancre... ORPHA:247585
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Anxiety, Attention deficit hyperactivity disorder, Hyperthyroid... ORPHA:449291
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, G... OMIM:618935
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Renal potassium wasting, Self-biting, P... OMIM:618314
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... OMIM:613673
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... OMIM:616689
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Bicornuate u... OMIM:137920
Omenn Syndrome
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Nephrotic syndrome, Eosinophi... ORPHA:39041
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration,... ORPHA:453533
Dominant Beta-Thalassemia
Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Hypot... ORPHA:231226
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi... ORPHA:2137
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-res... OMIM:608612
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... OMIM:278000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Aggressive behavior, Hyperactivity, Decreased ... ORPHA:85327
Beta-Thalassemia Major
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroi... ORPHA:231214
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Elevated hepa... OMIM:615234
Familial Renal Glucosuria
Enuresis, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance... ORPHA:69076
Steinert Myotonic Dystrophy
Inability to walk, Diabetes mellitus, Hyperinsulinemia, Cholelithiasis, Male hypogonadism, Decrea... ORPHA:273
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Lymphopenia, Irritability ORPHA:391307
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Alcoholism, Diabetes mellitus, Increased circulating procalcitonin conc... ORPHA:36238
Wolman Disease
Bone-marrow foam cells, Anemia, Adrenal calcification, Hepatomegaly, Adrenal insufficiency, Splen... ORPHA:75233
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Hyperactivity, Ataxia, Hepatomegaly, Skin-picking, Low frustration tolerance, Ag... ORPHA:163681
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia ORPHA:2457
Argininemia
Oroticaciduria, Diaminoaciduria, Hyperactivity, Cholestasis, Hepatomegaly, Irritability, Portal f... OMIM:207800
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:56425
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Hypoglycemi... OMIM:613027
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Tenorio Syndrome
Enuresis, Emotional lability, Gait disturbance, Anxiety, Hypoinsulinemia, Hypoglycemia OMIM:616260
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia OMIM:616589
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... OMIM:193300
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Niemann-Pick Disease, Type C1
Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis... OMIM:257220
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... OMIM:617394
Intellectual Developmental Disorder, Autosomal Dominant 45
Anxiety, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypoglycemia OMIM:617600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritab... OMIM:603553
Leprechaunism
Fasting hypoglycemia, Hyperaldosteronism, Nephrocalcinosis, Enlarged kidney, Central hypothyroidi... ORPHA:508
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritability, Thrombocytope... OMIM:267700
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... OMIM:603903
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Gait disturbance, Leukopenia, Hemophagocytosis, Anemia, Atax... OMIM:214500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... OMIM:235700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,... ORPHA:54251
Mcleod Syndrome
Personality disorder, Anxiety, Hepatomegaly, Acanthocytosis, Depression, Splenomegaly OMIM:300842
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia,... ORPHA:760
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Adult-Onset Still Disease
Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Hepatitis, ... ORPHA:829
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Biliary cirrhosis, Stage 5 chronic kidney disease, Enlarged kidney, ... OMIM:208540
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II diabetes mellitus, Hep... OMIM:151660
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Hyperactivity, Hepatomegaly, Splenomegaly OMIM:252900
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... OMIM:263200
Hyperparathyroidism, Neonatal Severe
Anemia, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalciuria, Polydipsia,... OMIM:239200
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular fil... OMIM:232220
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Dysdiadochokinesis, Dysphagia, Bradykinesia, Gait ataxia, Dysm... OMIM:610217
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... OMIM:224120
Liver Disease, Severe Congenital
Peritonitis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Elevated hepatic iron concentration, In... OMIM:619991
Mandibuloacral Dysplasia With Type A Lipodystrophy
Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Insulin-resistant diab... OMIM:248370
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia... ORPHA:228123
Woodhouse-Sakati Syndrome
Delayed puberty, Micropenis, Hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:3464
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... ORPHA:99226
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Pitt-Hopkins-Like Syndrome 1
Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity, Ataxia OMIM:610042
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Diabetes mellitus, H... OMIM:610199
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity, Ataxia OMIM:620047
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... ORPHA:822
Caroli Disease
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... ORPHA:53035
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Relapsing Fever
Jaundice, Acute kidney injury, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Hematuria, Neu... ORPHA:91547
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Neoplasm of the liver, Ataxia, Autoimmune thrombocytopenia, Bipolar affective di... ORPHA:77293
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Ataxia, Sideroblastic anemia, B lymphocytopenia, Aminoaciduria, Hypochromic mic... OMIM:616084
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Reticulocytosis, Lymphopenia, ... ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Leukocytosis, Leukopenia, Ataxia, Anemia, Agitation, Hashimoto thyroiditis, B... OMIM:615688
Niemann-Pick Disease, Type C2
Jaundice, Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue his... OMIM:607625
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Solitary Fibrous Tumor
Abnormality of the peritoneum, Urinary retention, Neoplasm of the liver, Recurrent hypoglycemia, ... ORPHA:2126
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... ORPHA:86843
Tuberous Sclerosis Complex
Polycystic kidney dysplasia, Depression, Hepatic cysts, Chronic kidney disease, Renal angiomyolip... ORPHA:805
Pearson Syndrome
Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroidism, Lacticaciduria, Proteinuria,... ORPHA:699
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Abnormal natural killer cell count, Thrombocytope... ORPHA:158048
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... ORPHA:892
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... ORPHA:2442
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... ORPHA:171
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis, Lymphadenopathy, Elevated ... OMIM:260920
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Aminoaciduria, Splenomegaly, Orotic acid cryst... ORPHA:30
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis, Alcoholism ORPHA:1930
Atypical Werner Syndrome
Neoplasm of the thyroid gland, Delayed puberty, Glycosuria, Hypogonadism, Diabetes mellitus, Abno... ORPHA:79474
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Niemann-Pick Disease Type C
Hepatosplenomegaly, Jaundice, Gait disturbance, Apathy, Ataxia, Bone-marrow foam cells, Abnormali... ORPHA:646
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Reduced renal cort... ORPHA:731
Hardikar Syndrome
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Intrahepatic bile duct dilat... OMIM:301068
Choreoacanthocytosis