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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
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 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 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, 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, Absent 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
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
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 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
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
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
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, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619937
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:620356
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Interstitial Lung Disease 2
Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumo... OMIM:178500
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
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
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 17
Male infertility OMIM:617214
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Cirrhosis, Pancytopenia, Pulmonary fibrosis, Leukemia, Myeloid leukemia OMIM:614743
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine ... OMIM:613759
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Reticular pattern on pulmonary HRCT, Anemia, Pancytopenia, Usual inte... OMIM:614742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia, Pulmonary fibrosis OMIM:620400
Deleted in azoospermia
Azoospermia OMIM:400003
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Sea-blue histiocytosis, Bone-ma... OMIM:607616
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Abnormal proportion of CD4-positive T cells, Weight loss, Pulmonary... ORPHA:133
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Iron deficiency anemia, Pulmonary fibrosis OMIM:178550
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... OMIM:615486
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent lower respiratory tract infections, Recurrent respiratory infections, Pancytopenia, B l... OMIM:618986
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Usual interstitial pneumonia, Splenomegal... OMIM:620367
Young Syndrome
Azoospermia OMIM:279000
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab... ORPHA:3032
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Failure to thrive, Hep... ORPHA:99931
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis OMIM:615704
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Pancytopenia, Granuloma, Failure to thrive, Hepatosp... OMIM:619858
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Plasmacytosis ORPHA:60026
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom... OMIM:613313
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Recurrent sinusitis, Hepato... OMIM:613101
Felty Syndrome
Hepatomegaly, Anemia, Recurrent pharyngitis, Pleuritis, Abnormal lymphocyte morphology, Recurrent... ORPHA:47612
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis, Obesity, Chronic bronchitis OMIM:616629
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia ORPHA:2183
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal natural... ORPHA:79124
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Pulmonary fibrosis OMIM:620365
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona... OMIM:618394
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening... ORPHA:79126
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Immunodeficiency 13
B lymphocytopenia, Nasal polyposis, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD... OMIM:615518
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4-positiv... OMIM:619510
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Hepatomegaly, Cholestasis, Asplenia, Pulmonary hypoplasia, He... OMIM:615415
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Failure to thrive, Leukopenia, Thrombocytopenia, Pulmonary fibrosi... OMIM:613989
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepatic fibrosis, H... OMIM:231100
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Pulmonary fibrosis, Pn... ORPHA:1163
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Lymphoid Interstitial Pneumonia
Hepatomegaly, Bronchiectasis, Failure to thrive, Respiratory tract infection, Weight loss, Pulmon... ORPHA:79128
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Acute pancreatitis, Pleural effusion, Granuloma, Recurrent pneumonia, Hepatospl... OMIM:618935
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly ORPHA:466794
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Failure to thrive in infancy, Abscess OMIM:612852
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Pulmonary fibrosis, Irregular septal thicken... ORPHA:90060
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Conge... OMIM:619111
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:232400
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
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
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Hepat... OMIM:606003
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc... OMIM:619902
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary interstitial morpholog... OMIM:616414
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Polymyositis
Abnormal pulmonary interstitial morphology, Hepatomegaly, Weight loss, Pulmonary fibrosis ORPHA:732
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Failure to t... OMIM:263000
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, ... OMIM:127550
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Atelectasis, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytos... OMIM:618278
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Pulmonary fibrosis ORPHA:457240
Rajab Interstitial Lung Disease With Brain Calcifications 2
Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminase concentrati... OMIM:619013
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Braddock Syndrome
Failure to thrive, Pulmonary fibrosis ORPHA:52047
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Failure to thrive, Hepatic fibrosis ORPHA:79319
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Thrombocytopenia, Pulmonary fibrosis, Hepatic fibrosis OMIM:224230
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pulmonary fibrosis, Lymphopenia, Pancytopenia OMIM:619767
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Niemann-Pick Disease, Type C2
Jaundice, Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Portal hypertension, Neonatal death, Pulmonary hypoplasia, Spl... OMIM:263200
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Meckel Syndrome, Type 6
Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease, Absent gallbladder, Hepatic ... OMIM:612284
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Obesity, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:615630
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Portal hypertension, Panc... OMIM:617341
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentrat... OMIM:619484
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pneumonia ORPHA:449280
Mixed Connective Tissue Disease
Abnormal pulmonary interstitial morphology, Hepatomegaly, Pleuritis, Leukopenia, Splenomegaly, Pu... ORPHA:809
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Clitoral hypertrophy, Gona... ORPHA:251510
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Lymphopenia, Failure to thrive, Leukopenia, Pulmonary fibrosis, Recurrent respiratory inf... OMIM:615934
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Recurrent pneumonia, Hepatosplenomegaly, Splenomega... OMIM:608233
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Anemia, Erythroid hypoplasia, Pulmonary fibrosis OMIM:618165
Pulmonary Alveolar Microlithiasis
Pneumothorax, Hepatomegaly, Pleural thickening, Bronchitis, Interlobular septal thickening, Respi... ORPHA:60025
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hepatic failure OMIM:602579
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis ORPHA:2377
Farber Disease
Elevated circulating hepatic transaminase concentration, Atelectasis, Anemia, Intrahepatic choles... ORPHA:333
Typhoid
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly ORPHA:99745
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Pulmonary fibrosis OMIM:614073
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Neoplasm of the lung, Weight loss ORPHA:1332
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem... OMIM:300972
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Failure to thrive, Neonatal death, Interlobular septal t... OMIM:265120
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Adams-Oliver Syndrome 6
Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con... ORPHA:264580
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Osteootohepatoenteric Syndrome
Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundi... OMIM:619377
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Weight loss, Hypereosi... ORPHA:2902
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatos... ORPHA:79322
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pleural effusion, Weig... ORPHA:330001
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Periportal fibrosis OMIM:263210
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Antisynthetase Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:81
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot... OMIM:617093
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia,... OMIM:230800
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona... OMIM:619481
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pancytopenia, Pleural effusi... OMIM:181000
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea... ORPHA:178320
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Anemia, Pleural effusion, Weight loss, Pulmonary fibr... ORPHA:35687
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Abnormal pulmonary interstitial morphology, Anemia, Macrocytic anemia, Pancytope... OMIM:613990
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Cholelithiasis, Panc... ORPHA:77259
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hepatomegaly, Weight loss, Pneumonia, Hepatic failure ORPHA:97287
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Pulmonary hypoplasia, Hepatic fibrosis, Pancrea... OMIM:200995
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... ORPHA:3260
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... OMIM:216360
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Diabetes mellitus, Sm... OMIM:614813
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly, Recurrent respiratory inf... OMIM:617050
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Elevated circulating aspartate aminotransferase con... OMIM:620454
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Acute pancreatitis... OMIM:619487
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... ORPHA:3261
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:79240
Q Fever
Pneumonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Abnorma... ORPHA:781
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Recurrent sinusitis, Recurrent pneumonia,... ORPHA:420741
Sarcoidosis
Decreased liver function, Increased T cell count, Leukopenia, Portal hypertension, Abnormal lung ... ORPHA:797
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis, Severe failure to thrive OMIM:246200
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Periportal fibrosis, Pulmonary hypoplasia, Cholestasis, Portal hypertensio... ORPHA:731
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Adams-Oliver Syndrome
Cirrhosis, Pulmonary artery atresia, Portal hypertension, Failure to thrive, Congenital hepatic f... ORPHA:974
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Cholestasis, Leuko... OMIM:615895
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Citrullinemia Type Ii
Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Decreased bo... ORPHA:247585
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:60
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Nasal polyposis, Asplenia, Respiratory tract infection, Re... ORPHA:244
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Failure to thrive, Recurrent pneumonia, Pulmonary fib... ORPHA:209905
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Cholestasis, Portal h... ORPHA:84081
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Pulmonary interstitial lymphocyte infiltration, B lymphocytopenia, T... OMIM:606367
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia, Cachexia, Hepat... ORPHA:2072
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of... ORPHA:84064
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Recurrent respiratory infections, Bile duct proliferation, Polycystic liver disease, Pu... OMIM:208500
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Howell-Jolly bodies, Pulmonary ... ORPHA:85443
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Anem... ORPHA:275761
Diffuse Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220393
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia OMIM:619879
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Increased mean platelet volume, Failure to thrive... OMIM:222470
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Pneumonia, Pleural effusion, Bronchiectasis, Granulom... ORPHA:228119
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Mednik Syndrome
Hepatic fibrosis, Neonatal death, Cholestasis, Cirrhosis OMIM:609313
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Abdominal obesit... ORPHA:125
Hermansky-Pudlak Syndrome 1
Pulmonary fibrosis OMIM:203300
Granulomatosis With Polyangiitis
Pancreatitis, Pleuritis, Weight loss, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Re... ORPHA:900
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hepatic steatosis, Periportal fibrosis OMIM:201475
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Cholelithiasis, Panc... ORPHA:355
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic... OMIM:212065
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Hermansky-Pudlak Syndrome
Pulmonary fibrosis, Weight loss, Neutropenia ORPHA:79430
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Abnormal pulmonary interstitial morphology, Elevated circula... OMIM:613658
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Nephronophthisis 3
Failure to thrive, Hepatic fibrosis OMIM:604387
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Failure to thrive in infancy, Crazy paving pattern ORPHA:264675
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hepatic fibrosis OMIM:601539
Reactive Arthritis
Weight loss, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:29207
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Elev... OMIM:620376
Overlap Myositis
Thrombocytopenia, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transa... ORPHA:206572
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alanine... OMIM:607330
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... ORPHA:1454
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic ... OMIM:616263
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Juvenile Dermatomyositis
Weight loss, Pulmonary fibrosis ORPHA:93672
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:612199
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Pancytopenia, Leukopenia, Thrombocytopenia, Pulmonary ... OMIM:305000
Argininosuccinic Aciduria
Failure to thrive, Hepatic fibrosis, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:207900
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Anemia, Cholangitis, Recurrent respiratory infections, Cholestasis, Failure to thri... OMIM:266920
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, C... ORPHA:251066
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Reticul... ORPHA:14
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:90291
Agammaglobulinemia, X-Linked
Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Hepatocellular carcinoma... OMIM:300755
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infe... OMIM:615273
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Neonatal death, Pulmonary hypoplasia, Splenomegaly OMIM:269860
Brucellosis
Lung abscess, Pneumonia, Liver abscess, Hepatomegaly, Anemia, Small for gestational age, Bronchit... ORPHA:1304
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Anemia, Accessory spleen, Portal hyperte... OMIM:620005
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Abdominal obesity, Hepatic fibrosis, Truncal obesity OMIM:209900
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Recurrent upper respiratory tract infections, Pulmonary fibrosis OMIM:614075
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia,... ORPHA:77261
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:263520
Dermatomyositis
Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminase concentrati... ORPHA:221
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Ch... ORPHA:77293
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Kikuchi-Fujimoto Disease
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... ORPHA:50918
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Cranioectodermal Dysplasia 1
Hepatomegaly, Recurrent respiratory infections, Hepatic cysts, Hepatic fibrosis, Malformation of ... OMIM:218330
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Bloom Syndrome
Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in females, Small for... OMIM:210900
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Primary Sjögren Syndrome
Normocytic anemia, Abnormal pulmonary interstitial morphology, Normochromic anemia, Chronic activ... ORPHA:289390
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Arima Syndrome
Cirrhosis, Hepatomegaly, Anemia, Hepatic fibrosis, Hepatic steatosis OMIM:243910
Primary Fanconi Renotubular Syndrome
Weight loss, Pulmonary fibrosis ORPHA:3337
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Recurrent lower respiratory tract infections, Recurrent respir... OMIM:619534
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... ORPHA:228123
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Alg9-Cdg
Abnormal lung lobation, Hepatomegaly, Periportal fibrosis, Pulmonary hypoplasia, Hepatic cysts ORPHA:79328
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogonadism OMIM:227650
Diaphanospondylodysostosis
Pulmonary hypoplasia, Abnormal liver lobulation OMIM:608022
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Lissencephaly, Cryp... ORPHA:3310
Orofaciodigital Syndrome I
Hepatic cysts, Hepatic fibrosis, Pancreatic cysts OMIM:311200
Kawasaki Disease
Abnormal pulmonary interstitial morphology, Jaundice, Recurrent pharyngitis, Leukocytosis, Thromb... ORPHA:2331
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnormal pulmonary vein morphology, Pleural... ORPHA:199241
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Cryptococcosis
Cirrhosis, Pneumonia, Lymphoid leukemia, Pleural effusion, Peritonitis, Nodular pattern on pulmon... ORPHA:1546
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:99226
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pancreatitis, Splenic cyst, Pulmonary artery atresia, Decreased body weight, Hepatic... OMIM:620371
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal liver lobulation, Asplenia ORPHA:99776
Knobloch Syndrome 2
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:618458
Meckel Syndrome
Accessory spleen, Asplenia, Congenital hepatic fibrosis, Cystic liver disease, Pancreatic fibrosi... ORPHA:564
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Elevated circulating hepatic transaminase concentration, Obesity... ORPHA:110
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Elevated circulating alanine aminotr... OMIM:243800
Chronic Graft Versus Host Disease
Pneumothorax, Elevated circulating hepatic transaminase concentration, Pancytopenia, Pleural effu... ORPHA:99921
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Cystic Fibrosis
Absent vas deferens, Male infertility, Decreased body mass index, Failure to thrive ORPHA:586
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Biliary hyperplasia, Leuk... OMIM:619991
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Primary hypothyroidism, Failure to thrive, Diabetes mellitus, ... OMIM:219800
Cystic Fibrosis
Failure to thrive, Male infertility OMIM:219700
Alström Syndrome
Cirrhosis, Hepatomegaly, Abnormal liver physiology, Elevated circulating hepatic transaminase con... ORPHA:64
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Anemia, Hemosiderin-laden macrophages in bronchoalveolar flu... OMIM:233450
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia, Congenital hepatic fibrosis ORPHA:93271
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:614748
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, As... ORPHA:79318
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Anemia, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothor... OMIM:130050
Noonan Syndrome 1
Male infertility, Hypospadias, Hypogonadism, Failure to thrive in infancy, Cryptorchidism OMIM:163950
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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