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Gene: Garin1a MGI:2141439

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Gene Summary

Name:
golgi associated RAB2 interactor 1A
Synonyms:
Fam71f2

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 kidney morphology Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
hydrometra Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Garin1aem1(IMPC)Ccpcz HOM Early adult 1.13×10-05
abnormal uterus morphology Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Garin1aem1(IMPC)Ccpcz HOM Early adult 0.00
decreased startle reflex Garin1aem1(IMPC)Ccpcz HOM   Early adult 1.57×10-05
abnormal thymus morphology Garin1aem1(IMPC)Ccpcz 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 Hind Leg and Hip

34 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Forepaw

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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Human diseases caused by Garin1a 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 Garin1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Deleted in azoospermia
Azoospermia OMIM:400003
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Dystonia ORPHA:139406
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin... OMIM:273250
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 104
Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop... OMIM:608971
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Aminoaciduria ORPHA:79238
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Failure to thrive, Splenomegaly, Aminoaciduria OMIM:230350
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Wolman Disease
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:620151
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia,... OMIM:619151
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly ORPHA:1046
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemolytic anemia OMIM:612126
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Failure to thrive, Splenomegaly, Ne... ORPHA:79301
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Failure to thrive, Splenomegaly ORPHA:172
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,... OMIM:608800
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh... ORPHA:545
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly, ... ORPHA:79312
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to ... OMIM:602450
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Failure to thrive, Splenomegaly, Acholic stools OMIM:619868
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dystonia ORPHA:77260
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy OMIM:105200
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:616719
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight l... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thrive, Splenomegal... OMIM:609981
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ... OMIM:146255
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Decr... OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Free Sialic Acid Storage Disease
Hepatomegaly, Athetosis, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly, Failure to thriv... ORPHA:834
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Failure to thrive, Hepatospl... OMIM:606003
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Caspase 8 Deficiency
Failure to thrive, Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype... OMIM:615387
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Decreased body weight, Thrombocytopenia, Splenomegaly OMIM:231000
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Obesity, Splenomegaly, Lymphopenia, Penile freckling, Hy... OMIM:605309
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat... ORPHA:158057
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm... OMIM:619665
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Decreased testicular size, Failure to thrive, Splenomegaly, Hypogonadism OMIM:201100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm... OMIM:619203
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Failure to thrive, Splen... ORPHA:397596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:168558
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Weight loss ORPHA:391
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Sple... OMIM:235200
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:289548
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port... ORPHA:824
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hydroneph... ORPHA:1655
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athetosis, Ascites... OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Failure to thrive, Exocrine pancreatic i... OMIM:612714
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov... ORPHA:432
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... ORPHA:3109
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Obesity, Increased circulating gonadotropin level, Hy... OMIM:615300
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... OMIM:278850
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Tremor, Exaggerated startle response, Cryptorchidism OMIM:620327
Wolman Disease
Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Müllerian Aplasia And Hyperandrogenism
Obesity, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:235555
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Lead Poisoning
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... ORPHA:330015
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Splenomegaly, Cryptorchidism, Small for gest... OMIM:618440
Vaginal Atresia
Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,... ORPHA:65681
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Abnormal vagina morphology, Hypoplasia of p... ORPHA:3097
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Failure to thr... OMIM:607765
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Severe failure to thrive, Periportal fibrosis, Cholestasis, Bi... ORPHA:30391
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Weigh... ORPHA:131
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney... OMIM:208540
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Microscopic hematuria, Failu... ORPHA:77297
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hypoplastic spleen, Hy... OMIM:601186
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Pancreatic hypoplasia, Nephrolithiasis, Renal cyst, Epidi... OMIM:137920
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Exaggerated startle response, Increased urinary N-acetylgluco... OMIM:268800
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acidosis, Myoglobinuria, H... ORPHA:79240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Failure to ... OMIM:612541
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath... ORPHA:231214
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci... OMIM:618419
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, F... OMIM:239200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Pagod Syndrome
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the spleen, Abnormality ... ORPHA:991
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... OMIM:614527
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Cryptorchidism, Hypo... ORPHA:251066
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Meckel Syndrome 12
Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia OMIM:616258
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss ORPHA:33577
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo... OMIM:614083
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens... OMIM:251880
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decre... OMIM:241080
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Streak ovary, Ab... ORPHA:3464
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Failure to thrive, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:617591
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response OMIM:616881
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis OMIM:615947
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Orchitis... OMIM:249100
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Hepatosplenomegaly, Urinary glycosaminoglycan e... ORPHA:79255
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Splenomegaly,... OMIM:608594
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response OMIM:617864
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Elevated hemo... OMIM:269700
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Leukocytosis, Thrombo... OMIM:274000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Hydronephros... OMIM:236680
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Failure to thrive in infanc... ORPHA:1572
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop... ORPHA:69085
Tay-Sachs Disease
Tremor, Exaggerated startle response, Precocious puberty, Dystonia, Laryngeal dystonia ORPHA:845
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Hepatomegaly, Aplasia of the sweat glands, Splenomegaly OMIM:612132
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Cachexia, Neoplasm of the thy... ORPHA:744
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Grade III vesicoureteral ref... OMIM:619522
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali... OMIM:194190
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Horseshoe kidney OMIM:617088
Okamoto Syndrome
Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute... ORPHA:2729
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Precocious puberty,... ORPHA:438213
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Dystonia, Exaggerated startle response ORPHA:521426
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Asparagine Synthetase Deficiency
Failure to thrive, Tremor, Exaggerated startle response OMIM:615574
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response OMIM:617527
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Thrombocytopenia, Exaggerated startle response OMIM:620423
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Small for gestational age, Vesicovag... OMIM:201750
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Rectovaginal fistula, ... OMIM:243800
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response, Lacticaciduria OMIM:620451
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo... OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Norrie Disease
Cachexia, Uterine rupture, Failure to thrive, Cryptorchidism ORPHA:649
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Decreased body weight, Clitoral hypoplas... OMIM:261540
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Peters Plus Syndrome
Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral h... ORPHA:709
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal cyst, O... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... ORPHA:286
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367

Histopathology

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

There is no histopathology data for Garin1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Garin1a.

No publications found that use IMPC mice or data for Garin1a.

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MGI Allele Allele Type Produced
Garin1aem1(IMPC)Ccpcz Exon Deletion Mice
Garin1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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