Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
golgi autoantigen, golgin subfamily a, 2
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.

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

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
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 4
Azoospermia OMIM:270960
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Usual interstitial pneumonia, Reduced forced vita... OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Co... OMIM:616371
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Hepatosplenomegaly, Portal hypertension, Abnormal breath sound, C... ORPHA:210136
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Obesity, Oligospermia, Type II diabetes mellitus OMIM:615703
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneumonia, Cough,... OMIM:614742
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Dyspnea, Anemia, Recurrent respiratory infections, Bone-marrow foam c... OMIM:607616
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Pulmonary fibrosis, Myeloid leukemia, Aplastic anemia, Cirrhosis OMIM:614743
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... OMIM:178550
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... OMIM:613759
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia ORPHA:306550
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Reticular patter... ORPHA:99931
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough, Plasmacytosis ORPHA:60026
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Recurrent respiratory infecti... ORPHA:586
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Recurrent pneumonia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Chronic bro... OMIM:618986
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis OMIM:615704
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Late inspirat... ORPHA:2302
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Short stature, Dysdiadochokine... OMIM:616291
Young Syndrome
Azoospermia OMIM:279000
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thickening, Crackles, Respirat... ORPHA:79128
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Hepatomegaly, Failure to thrive, Portal fibrosis, Elevated he... ORPHA:369
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Splenomegaly, Hepatomegaly, Neutr... ORPHA:47612
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Leukocytosis, Hypoxemia, Increased DLCO, Rest... ORPHA:90060
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Aspergillosis
Eosinophilia, Hypersensitivity pneumonitis, Sinusitis, Pneumonia, Abnormality on pulmonary functi... ORPHA:1163
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616719
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Elevated... OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Splenomegaly, Anomalous splenoportal venous system OMIM:271500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly, Bro... OMIM:618394
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Decreased DLCO, ... OMIM:616414
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Neutrophilia, Pulmonary h... OMIM:619644
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Short stature, Spasticity, ... OMIM:608029
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Hemochromatosis, Neonatal
Hepatic failure, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Cirrhosis, He... OMIM:231100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis, Stillbirth, Pulmonary hypoplasia OMIM:615415
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... OMIM:616948
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Coach Syndrome 2
Apneic episodes in infancy, Congenital hepatic fibrosis, Portal fibrosis, Elevated hepatic transa... OMIM:619111
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Hypo... OMIM:610978
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Immunodeficiency 13
T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiolit... OMIM:615518
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Pleural effusion, Absc... OMIM:618935
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Neutrophilia, Splenomegaly, Hepatomegaly, Pulmonary fibrosis, Respi... OMIM:612852
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Polymyositis
Cough, Hepatomegaly, Exertional dyspnea, Pulmonary fibrosis, Respiratory insufficiency, Weight lo... ORPHA:732
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxygen desatu... ORPHA:60025
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic fibrosis OMIM:602579
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Small for gestational age, Asthma, Splenomegaly, Decreased live... OMIM:606003
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Tachypnea, Anisocytosis, Resp... OMIM:618278
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Braddock Syndrome
Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Pulmonary fibr... ORPHA:52047
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Restrictive ventilatory defect, Hepatosplenomegaly, Cough, ... OMIM:619013
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Tac... OMIM:265120
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, L... ORPHA:53035
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Thrombocytopenia, Anemia, Pulmonary fibrosis, Aplastic anemia, Cirrhosi... OMIM:127550
Hermansky-Pudlak Syndrome 4
Restrictive ventilatory defect, Pulmonary fibrosis, Epistaxis, Abnormal platelet granules OMIM:614073
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Hepatomegaly, Dyspnea, Pulmonary arterial hypertension, Hemolytic anemi... ORPHA:809
Mpi-Cdg
Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, Hepatic fibrosis ORPHA:79319
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Failure to thrive, Pulmonary fibrosis, Aplastic anemia, Thrombocytopenia OMIM:613989
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Pulmonary fibrosis, Decreased proportion of ... OMIM:611926
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Joubert Syndrome 9
Apnea, Episodic tachypnea, Hepatic fibrosis OMIM:612285
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Pulmonary hypoplasia, Hepatic ... OMIM:612284
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis, Overweight ORPHA:457240
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Thrombocytosis, Tachypnea, Anemia, Recurrent respiratory infections, Failure to thriv... OMIM:615934
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Delayed puberty, Cryptorc... ORPHA:432
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis OMIM:616629
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:615630
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Small for gestational age, Decre... ORPHA:330015
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Antisynthetase Syndrome
Cough, Pulmonary arterial hypertension, Recurrent respiratory infections, Pulmonary fibrosis, Res... ORPHA:81
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
48,Xyyy Syndrome
Azoospermia, Primary gonadal insufficiency, Male hypogonadism ORPHA:99329
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Small for gestational ag... ORPHA:567983
Typhoid
Abnormal pulmonary interstitial morphology, Splenomegaly, Hepatomegaly, Cough, Epistaxis ORPHA:99745
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenomegaly, Hepatomegaly, Neonatal ... OMIM:263200
Nephronophthisis 16
Hepatic fibrosis, Cholestasis OMIM:615382
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules,... OMIM:608233
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Failure to thrive, Elevated hepatic transaminase, Periportal fibrosis OMIM:619484
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Thrombocytopenia, Pulmonary fibrosis, Aplastic anemia OMIM:224230
Pediatric Hepatocellular Carcinoma
Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lava... OMIM:181000
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility OMIM:618300
Bronchial Neuroendocrine Tumor
Nonproductive cough, Hepatic failure, Pneumonia, Asthma, Abnormal pulmonary interstitial morpholo... ORPHA:97287
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Asthma, Anemia, Failure to thrive, Prolonged neona... OMIM:619377
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Anemia, Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD4-positive hel... OMIM:617241
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Failure to thrive, Portal fibrosis, E... ORPHA:370
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Splenomegaly, Hepatomegaly, Dyspnea, Pulmonary arterial hypertension, An... OMIM:230800
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Weight lo... ORPHA:85450
Farber Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hepatic failure, Intrahepatic c... ORPHA:333
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Wild Type Attr Amyloidosis
Hepatomegaly, Pleural effusion, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonar... ORPHA:330001
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis ORPHA:2377
Isolated Biliary Atresia
Small for gestational age, Cholestasis, Bile duct proliferation, Periportal fibrosis, Atretic gal... ORPHA:30391
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Abnormality of endocrine pancreas phy... ORPHA:79230
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:280679
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Anemia, Failure to thrive, Portal fib... ORPHA:264580
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss, Abnormal liver parenchyma morphology ORPHA:1332
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Diabetes insipidus, Amenorrhea ORPHA:1445
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Failure to th... ORPHA:231226
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Pancreatitis, Thrombocytopenia, Thromboc... ORPHA:3260
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Erdheim-Chester Disease
Pleural effusion, Cough, Dyspnea, Retroperitoneal fibrosis, Anemia, Pulmonary fibrosis, Weight lo... ORPHA:35687
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Failure to th... ORPHA:231214
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Hepatosplenomega... OMIM:615952
Primary Sclerosing Cholangitis
Cholelithiasis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hepatomegaly, Neutropenia, Recurrent respiratory infections, Apnea, Abnormal pulmon... OMIM:617050
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small for gestational age, Clitoral hypoplasia, Oligospermia, Failure to thrive, Diabetes mellitu... OMIM:614813
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Chronic sinu... ORPHA:420741
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Pulmonary arterial hypertension, Recurrent resp... ORPHA:209905
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fa... ORPHA:264675
Gapo Syndrome
Oligospermia, Hypogonadism, Amenorrhea, Dysmenorrhea ORPHA:2067
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... OMIM:300845
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Elevated hepatic transami... ORPHA:79322
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Periportal fibrosis, Pulmonary hypoplasia OMIM:263210
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Pulmonary arteri... ORPHA:77259
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Hypoventilation, Spontaneous pneumothorax, Hypersplenis... ORPHA:731
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hepatic fibrosis, Pulm... OMIM:200995
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Chitayat Syndrome
Recurrent respiratory infections, Respiratory distress, Tracheomalacia, Abnormal pulmonary inters... OMIM:617180
Coach Syndrome 1
Portal hypertension, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Intrahepatic bile... OMIM:216360
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Ane... OMIM:619487
Adams-Oliver Syndrome
Leukopenia, Portal hypertension, Pulmonary arterial hypertension, Failure to thrive, Congenital h... ORPHA:974
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Q Fever
Abnormality of the liver, Pneumonia, Hepatosplenomegaly, Cholecystitis, Splenomegaly, Pleural eff... ORPHA:781
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatocellular carc... ORPHA:79240
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Hepatocellular carcinoma, Coombs-positive hemolytic anemia, Autoimmune hemolytic an... ORPHA:3261
Sarcoidosis
Hepatic failure, Increased T cell count, Anemia, Thrombocytopenia, Emphysema, Leukopenia, Abnorma... ORPHA:797
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respiratory tract i... ORPHA:244
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Donohue Syndrome
Severe failure to thrive, Pancreatic islet-cell hyperplasia, Cholestasis, Hepatic fibrosis OMIM:246200
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Caroli Syndrome
Hepatic failure, Leukocytosis, Leukopenia, Portal hypertension, Cholangitis, Cholangiocarcinoma, ... ORPHA:480520
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis, Dyspnea ORPHA:220393
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Spontaneous, recurrent epistaxis,... ORPHA:2072
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation OMIM:610688
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Recurrent respirat... OMIM:208500
Granulomatosis With Polyangiitis
Sinusitis, Recurrent intrapulmonary hemorrhage, Restrictive ventilatory defect, Cough, Recurrent ... ORPHA:900
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Tachypnea, Hepatomegaly, Hepatocellular necrosis, Respira... OMIM:201475
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion OMIM:265450
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Decreased body mass index, Pancre... ORPHA:247585
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Cutaneous abscess, Chronic hepatitis, Po... ORPHA:101330
Hermansky-Pudlak Syndrome 1
Restrictive ventilatory defect, Pulmonary fibrosis, Epistaxis OMIM:203300
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Senior-Boichis Syndrome
Hepatosplenomegaly, Portal hypertension, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Vacuolated lymphocytes, Fa... ORPHA:275761
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Pulmonary fibrosis, Aplastic anemia, Thrombocytopenia OMIM:613990
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Small for gestational age, Thrombocytosis, S... ORPHA:84064
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminas... ORPHA:541423
Al Amyloidosis
Nonproductive cough, Abnormality of the liver, Pulmonary interstitial high-resolution computed to... ORPHA:85443
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hypersplenism, Thrombocytopen... OMIM:301068
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Scleroderma
Hypereosinophilia, Dyspnea, Pulmonary arterial hypertension, Pulmonary fibrosis, Abnormal pulmona... ORPHA:801
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Thrombocytosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase... OMIM:212065
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Jaundice, Hepatitis, Abnormality of the ... ORPHA:186
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Bardet-Biedl Syndrome
Obesity, Hepatic fibrosis ORPHA:110
Reactive Arthritis
Weight loss, Respiratory insufficiency, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:29207
Hermansky-Pudlak Syndrome
Dyspnea, Neutropenia, Pulmonary fibrosis, Weight loss, Epistaxis ORPHA:79430
Trichohepatoenteric Syndrome 1
Hepatic failure, Abnormality of the pancreas, Small for gestational age, Cholestasis, Thrombocyto... OMIM:222470
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Juvenile Dermatomyositis
Restrictive ventilatory defect, Cough, Dyspnea, Pulmonary fibrosis, Weight loss ORPHA:93672
Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Anemia, Hepatitis, Pul... ORPHA:355
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Obesity, Ambiguous genitalia, female, Eunuchoid habitus, Enla... ORPHA:91
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Decreased proportion of CD4+... OMIM:606367
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Bloom Syndrome
Small for gestational age, Azoospermia, Oligospermia, Male infertility, Diabetes mellitus, Abdomi... ORPHA:125
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Emphysema, Hepatic steatosis, Portal hypertension, Small for gestational age, Slend... OMIM:613658
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Portal hypertension, Cirrhosis, Splenomegaly, Abnormal pattern of r... ORPHA:1454
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Azoospermi... ORPHA:300298
Overlap Myositis
Leukopenia, Pulmonary arterial hypertension, Elevated hepatic transaminase, Thrombocytopenia, Abn... ORPHA:206572
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Abnormality of the liver, Pneumonia, Lung abscess, Perit... ORPHA:228119
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Dermatomyositis
Abnormal eosinophil morphology, Lung adenocarcinoma, Pulmonary arterial hypertension, Recurrent r... ORPHA:221
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Bardet-Biedl Syndrome 1
Asthma, Obesity, Truncal obesity, Biliary tract abnormality, Abdominal obesity, Hepatic fibrosis OMIM:209900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Hepatic fibrosis OMIM:616263
Dyskeratosis Congenita, X-Linked
Pancytopenia, Restrictive ventilatory defect, Leukopenia, Acute myeloid leukemia, Anemia, Pulmona... OMIM:305000
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Respiratory failure, Hepatomegaly, Acanthocytosis, Anemia, Failure ... ORPHA:14
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Nephronophthisis 11
Anemia, Hepatic fibrosis OMIM:613550
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatic fibrosis, Hepatomegaly OMIM:601539
Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, ... ORPHA:90291
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Crackles, Cou... ORPHA:747
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Non... ORPHA:227990
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Histiocytosis, Absent natural killer cells, Increased T cell count... ORPHA:2442
Argininosuccinic Aciduria
Failure to thrive, Hepatic fibrosis, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:207900
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Respiratory insufficiency, Congenital hepatic fibrosis ORPHA:2031
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Agammaglobulinemia, X-Linked
Recurrent pneumonia, T lymphocytopenia, Bronchiectasis, Neutropenia, Anemia, Recurrent sinusitis,... OMIM:300755
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Respiratory failure requiring assisted ventilation, Hepatic failure, Progressive ... ORPHA:77293
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Anemia, Recurrent resp... ORPHA:77261
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Non... ORPHA:227982
Arima Syndrome
Hepatic steatosis, Tachypnea, Hepatomegaly, Dyspnea, Hepatic fibrosis OMIM:243910
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Splenomegaly, Hepatomegaly, Atelectasis, Neonatal death, Respiratory insuffi... OMIM:269860
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Joubert Syndrome 1
Episodic tachypnea, Hepatic fibrosis, Neonatal breathing dysregulation, Central apnea OMIM:213300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia, Pancreatic fibrosis OMIM:263520
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Brucellosis
Pulmonary granulomatosis, Abnormality of the liver, Leukopenia, Pneumonia, Leukocytosis, Lung abs... ORPHA:1304
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Short Rib-Polydactyly Syndrome
Respiratory failure, Hepatic fibrosis, Hepatic cysts, Abnormality of the liver ORPHA:1505
Diaphanospondylodysostosis
Tracheomalacia, Abnormal liver lobulation, Respiratory distress, Respiratory insufficiency, Pulmo... OMIM:608022
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hypoxemia, Hyperechogenic pancreas, Hepatomegaly, Failure to t... ORPHA:456312
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Pleural effusion, Hepatomegaly, Neutropenia, Anemia, Elevated hepatic t... ORPHA:50918
Primary Sjögren Syndrome
Nonproductive cough, Biliary cirrhosis, Leukopenia, Normocytic anemia, Airway obstruction, Lympho... ORPHA:289390
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cholestasis, Bile duct proliferation, Jaundice, Recurrent lower respiratory tr... OMIM:619534
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... ORPHA:228123
Alg9-Cdg
Periportal fibrosis, Asthma, Hepatomegaly, Abnormal lung lobation, Hepatic cysts, Pulmonary hypop... ORPHA:79328
Primary Fanconi Renotubular Syndrome
Weight loss, Pulmonary fibrosis ORPHA:3337
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility, Small for gestational age OMIM:227650
Cranioectodermal Dysplasia 1
Hepatic failure, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepati... OMIM:218330
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Tetrasomy 9P
Infertility, Absent gallbladder, Cryptorchidism, Micropenis, Oligospermia, Lissencephaly, Pachygy... ORPHA:3310
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Pancreatic cysts OMIM:311200
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Atretic vas deferen... OMIM:137920
Kawasaki Disease
Leukocytosis, Cholecystitis, Jaundice, Hepatitis, Recurrent pharyngitis, Abnormal pulmonary inter... ORPHA:2331
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Epispadias, Distal urethr... ORPHA:227
Cryptococcosis
Pneumonia, Peritonitis, Pleural effusion, Cough, Lymphoid leukemia, Dyspnea, Respiratory distress... ORPHA:1546
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Failure to thrive in infancy, Obesity, Elevated hepatic tra... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Failure to thrive in infancy, Obesity, Elevated hepatic tra... ORPHA:881
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Failure to thrive in infancy, Obesity, Elevated hepatic tra... ORPHA:99226
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Failure to thrive in infancy, Obesity, Elevated hepatic tra... ORPHA:99228
Aarskog Syndrome, Autosomal Dominant
Cirrhosis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Macrocytic anemia OMIM:100050
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal liver lobulation, Asplenia ORPHA:99776
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Congenital hepatic fibrosis, Cystic liver disease, Asplenia, ... ORPHA:564
Chronic Graft Versus Host Disease
Pancytopenia, Airway obstruction, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Bronchiolitis... ORPHA:99921
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone... ORPHA:273
Goodpasture Syndrome
Restrictive ventilatory defect, Reticular pattern on pulmonary HRCT, Increased DLCO, Crackles, Pu... OMIM:233450
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory acidosis, Recurrent respiratory infections, Respiratory distress, Neonatal respirator... OMIM:614748
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Alström Syndrome
Hepatic failure, Abnormal liver physiology, Hepatitis, Pancreatitis, Recurrent pneumonia, Recurre... ORPHA:64
Cystinosis, Nephropathic
Primary hypothyroidism, Failure to thrive in infancy, Male hypogonadism, Male infertility, Diabet... OMIM:219800
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Respiratory insufficiency, Congenital hepatic fibrosis, Pulmonary hypoplasia ORPHA:93271
Cystic Fibrosis
Failure to thrive, Male infertility OMIM:219700
Pmm2-Cdg
Impaired neutrophil chemotaxis, Failure to thrive, Elevated hepatic transaminase, Respiratory dis... ORPHA:79318
Noonan Syndrome 1
Failure to thrive in infancy, Cryptorchidism, Male infertility, Hypospadias, Hypogonadism OMIM:163950
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Pulmonary bleb, Anem... OMIM:130050

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

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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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