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Gene: Golga2 MGI:2139395

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
golgin A2
Synonyms:
GM130

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Golga2 mutations

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

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

The table below shows human diseases associated to Golga2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Failure to thrive, Clonus OMIM:620240

The table below shows human diseases predicted to be associated to Golga2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
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 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
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
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea... ORPHA:210136
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Anemia, Decreased DLCO, Pulmonary fibrosis, Cir... OMIM:614742
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:612387
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... OMIM:178550
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Spermatogenic Failure 17
Male infertility OMIM:617214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Cirrhosis, Leukemia, Myeloid leukemia OMIM:614743
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Dyspnea, Splenomegaly, Th... OMIM:607616
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine aminotransferase concentra... OMIM:613759
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... OMIM:615486
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function ORPHA:306550
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, ... ORPHA:99931
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Plasmacytosis, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Pancytope... OMIM:618986
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Pulmonary fibrosis, Hepatomegaly OMIM:615704
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Crackles, Respiratory tract infection, Dyspnea, Wheezing,... ORPHA:79128
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... ORPHA:90060
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... ORPHA:369
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Felty Syndrome
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Recurrent pharyngitis, Splenomegaly, R... ORPHA:47612
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha... OMIM:619858
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Aspergillosis
Sinusitis, Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Dyspnea, Chronic pulmonary obst... ORPHA:1163
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Fail... ORPHA:79124
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Splenoportal Vascular Anomalies
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia OMIM:620365
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Pulmonary fibrosi... OMIM:618394
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis, Chronic bronchitis OMIM:616629
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Recurrent pneum... OMIM:619644
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Pulmonary fibrosis, Neutropenia, Fai... OMIM:613989
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Failure to thrive in infancy, T lymphocytopenia, Pulmonary fibr... OMIM:619510
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Apneic episodes in infancy, Hepatic f... OMIM:619111
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenome... OMIM:612852
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Bronchiolitis obliter... OMIM:615518
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Prolonged neonatal jaundice ORPHA:446
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumoni... OMIM:618935
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Jaundice, Resp... OMIM:607625
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Polymyositis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Weight loss,... ORPHA:732
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... OMIM:618278
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Failure to thrive, Pulmonary fibr... ORPHA:52047
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Restrictive ventilatory defect, Pulmonary fibrosis, Abnormally low T cell receptor ... OMIM:619767
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Asthma, Micronodular cirrhos... OMIM:606003
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, P... ORPHA:60025
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hep... OMIM:619013
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial m... OMIM:620233
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... ORPHA:330015
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Hermansky-Pudlak Syndrome 4
Epistaxis, Absent platelet dense granules, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Mixed Connective Tissue Disease
Hepatomegaly, Hemolytic anemia, Dyspnea, Splenomegaly, Abnormal pulmonary interstitial morphology... ORPHA:809
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Failure to thrive ORPHA:79319
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Pulmonary fibrosis, Thrombocytopenia OMIM:224230
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Pulmonary fibrosis ORPHA:457240
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Antisynthetase Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Respiratory insuffi... ORPHA:81
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Lymphopenia, Tachypnea, Leukopenia, Pulmonary fibrosis, Thrombo... OMIM:615934
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Hepatic fibrosis, Portal hypertension, Abnormally low T cell receptor excision circ... OMIM:617341
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Cystic liver disease, Hepatic fibrosis, Pulmonary hypopla... OMIM:612284
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Farber Disease
Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis ... ORPHA:333
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Failure to thrive OMIM:619484
Typhoid
Hepatomegaly, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough ORPHA:99745
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Hepatosplenomega... OMIM:608233
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Splenomegaly, Thrombocytopenia, Ab... OMIM:230800
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Dyspnea, Splenomegaly, Emphysema, Bronchiectasis, Abnormal pulmonary ... OMIM:181000
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary inter... ORPHA:97287
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pulmonary fibrosis, Pure red cell aplasia OMIM:618165
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion, Pulmonar... ORPHA:330001
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity ORPHA:2377
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive OMIM:602579
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr... OMIM:619377
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Normocytic anem... OMIM:300972
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Cough, Neutrophilia, Leukocytosis, Hepatos... ORPHA:3260
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss, Abnormal liver parenchyma morphology ORPHA:1332
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... ORPHA:264580
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Erdheim-Chester Disease
Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, Pulmo... ORPHA:35687
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ... OMIM:615952
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25... OMIM:619802
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscu... ORPHA:231214
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... OMIM:617093
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pulmonary int... ORPHA:77259
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Pulmonary fibrosis, Decreased DLCO, Thrombocytopenia OMIM:613990
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Hepatomegaly, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:216360
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Leukopenia, C... ORPHA:797
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Increased B cell count, Eosinophilia,... ORPHA:3261
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte... OMIM:619487
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body... ORPHA:79240
Q Fever
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Pneumonia, Splenomegaly, Throm... ORPHA:781
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary fibrosis, Pulmonary arterial hypertension ORPHA:220393
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Pulmonary artery atresia... ORPHA:974
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Epistaxis, Chro... ORPHA:900
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly... ORPHA:2072
Donohue Syndrome
Severe failure to thrive, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Tachypnea, Hepatocellular necrosis, Periportal fibrosis, Respiratory arrest, Hepati... OMIM:201475
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Cholestasis, Hepatic fib... OMIM:615895
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to th... OMIM:614813
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc... ORPHA:247585
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Bone-... ORPHA:275761
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... ORPHA:101330
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Hermansky-Pudlak Syndrome 1
Restrictive ventilatory defect, Epistaxis, Pulmonary fibrosis OMIM:203300
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation OMIM:610688
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Dyspnea, Nonproductive cough, Abnormal pulmonary interstitial ... ORPHA:85443
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... ORPHA:84064
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Bardet-Biedl Syndrome
Hepatic fibrosis, Obesity ORPHA:110
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Juvenile Dermatomyositis
Dyspnea, Weight loss, Restrictive ventilatory defect, Pulmonary fibrosis, Cough ORPHA:93672
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Hermansky-Pudlak Syndrome
Epistaxis, Dyspnea, Weight loss, Pulmonary fibrosis, Neutropenia ORPHA:79430
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... ORPHA:186
Reactive Arthritis
Respiratory insufficiency, Pulmonary fibrosis, Abnormal pleura morphology, Weight loss ORPHA:29207
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen... OMIM:222470
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small for gestational age, Slender build, Portal hyp... OMIM:613658
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal pulmonary interstitial morph... ORPHA:355
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... OMIM:606367
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Congenital hepatic fibro... ORPHA:1454
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Severe B ly... OMIM:620005
Fusariosis
Brain abscess, Lung abscess, Sinusitis, Pneumonia, Productive cough, Hypersensitivity pneumonitis... ORPHA:228119
Mednik Syndrome
Cirrhosis, Hepatic fibrosis, Neonatal death, Cholestasis OMIM:609313
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Overlap Myositis
Elevated hepatic transaminase, Abnormal pulmonary interstitial morphology, Leukopenia, Pulmonary ... ORPHA:206572
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Abnormal pulmonary interstitial... ORPHA:221
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Failure to thrive,... OMIM:212065
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... ORPHA:125
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Restrictive ventilatory defect, Leukopeni... OMIM:305000
Systemic Sclerosis
Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pulmonary arterial hyper... ORPHA:90291
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Acanthocytosis, Respiratory failure... ORPHA:14
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Argininosuccinic Aciduria
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas... OMIM:207900
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Pulmonary fibrosis, Anemia OMIM:612199
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... OMIM:616263
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Atelectasis, Respiratory insufficiency, Periportal fibrosis, Pulmonar... OMIM:269860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Respiratory insufficiency ORPHA:2031
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Neutropenia, Bronchiectasis, Bronchiolitis ... OMIM:300755
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Recurrent respiratory infections, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic... OMIM:266920
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Elevated hepatic transaminase, Hepatomega... OMIM:615273
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Hepatomegaly, Autoimmune thrombocytopenia, Pr... ORPHA:77293
Bardet-Biedl Syndrome 1
Asthma, Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis OMIM:209900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Abnormal pulmonary interstitia... ORPHA:227990
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Gaucher Disease Type 3
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Thrombocytopenia, Abn... ORPHA:77261
Joubert Syndrome 1
Central apnea, Hepatic fibrosis, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Abnormal pulmonary interstitia... ORPHA:227982
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia OMIM:263520
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hypoxemia... ORPHA:456312
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Brucellosis
Hepatomegaly, Lung abscess, Liver abscess, Pneumonia, Bronchitis, Small for gestational age, Hype... ORPHA:1304
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Abnormal pulmonary i... ORPHA:50918
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic... OMIM:218330
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age OMIM:227650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Abnormal liver lobulation, Pulmonary hypoplasia,... OMIM:608022
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Bronchitis, Nonp... ORPHA:289390
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Neonatal death, Intrahepatic bile duct dilatation, Hepatomegaly, Elevated circu... OMIM:619534
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis, Weight loss ORPHA:3337
Alg9-Cdg
Hepatomegaly, Asthma, Abnormal lung lobation, Periportal fibrosis, Pulmonary hypoplasia, Hepatic ... ORPHA:79328
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Kawasaki Disease
Recurrent pharyngitis, Jaundice, Leukocytosis, Hepatitis, Abnormal pulmonary interstitial morphol... ORPHA:2331
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts OMIM:311200
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pach... ORPHA:3310
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, P... ORPHA:1546
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... ORPHA:99226
Mosaic Trisomy 9
Asplenia, Abnormal lung lobation, Abnormal liver lobulation ORPHA:99776
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Wei... ORPHA:99921
Johanson-Blizzard Syndrome
Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot... OMIM:243800
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Cough, Pancr... OMIM:619991
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ... OMIM:233450
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Chr... ORPHA:64
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism OMIM:163950
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:93271
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Abnormal liver parenchyma morphology, Hepati... ORPHA:79318
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Weight loss, Primary hypothyro... OMIM:219800
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Failure to thrive, Clonus OMIM:620240

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 Golga2

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 Golga2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
GOLGA2 loss causes fibrosis with autophagy in the mouse lung and liver. Biochemical and biophysical research communications (November 2017) Golga2tm1(KOMP)Vlcg 29128360

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Golga2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Golga2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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