Gene Summary

Name:
caseinolytic mitochondrial matrix peptidase proteolytic subunit
Synonyms:
D17Wsu160e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased monocyte cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
thrombocytopenia Clpptm1a(EUCOMM)Wtsi HOM Early adult 4.18×10-06
increased circulating bilirubin level Clpptm1a(EUCOMM)Wtsi HOM Early adult 4.15×10-18
increased circulating aspartate transaminase level Clpptm1a(EUCOMM)Wtsi HOM Early adult 7.97×10-06
decreased gamma-delta T cell number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased CD4-positive NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased memory-marker CD4-negative NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral density Clpptm1a(EUCOMM)Wtsi HOM Early adult 5.14×10-13
abnormal auditory brainstem response Clpptm1a(EUCOMM)Wtsi HOM   Early adult 4.39×10-06
decreased red blood cell distribution width Clpptm1a(EUCOMM)Wtsi HOM   Early adult 3.74×10-06
increased Ly6C low monocyte number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
tremors Clpptm1a(EUCOMM)Wtsi HOM Early adult 4.12×10-05
decreased total body fat amount Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.63×10-05
decreased bone mineral content Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.75×10-14
decreased effector memory CD8-positive, alpha-beta T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Clpptm1a(EUCOMM)Wtsi HOM Early adult 7.12×10-06
female infertility Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating glucose level Clpptm1a(EUCOMM)Wtsi HOM Early adult 1.12×10-06
increased hematocrit Clpptm1a(EUCOMM)Wtsi HOM   Early adult 1.60×10-05
increased circulating cholesterol level Clpptm1a(EUCOMM)Wtsi HOM   Early adult 7.09×10-06
increased mean corpuscular hemoglobin Clpptm1a(EUCOMM)Wtsi HOM Early adult 3.88×10-15
increased B cell number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating fructosamine level Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.48×10-07
increased circulating serum albumin level Clpptm1a(EUCOMM)Wtsi HOM Early adult 7.72×10-07
increased circulating iron level Clpptm1a(EUCOMM)Wtsi HOM Early adult 1.49×10-12
increased hemoglobin content Clpptm1a(EUCOMM)Wtsi HOM   Early adult 5.06×10-06
decreased body length Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.24×10-15
increased total body fat amount Clpptm1a(EUCOMM)Wtsi HOM Early adult 5.97×10-10
male infertility Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased Ly6C high monocyte number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased KLRG1-positive NK cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased lean body mass Clpptm1a(EUCOMM)Wtsi HOM Early adult 1.32×10-06
increased circulating glycerol level Clpptm1a(EUCOMM)Wtsi HOM Early adult 3.95×10-06
abnormal bone structure Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.69×10-14
decreased lean body mass Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.30×10-07
increased circulating alkaline phosphatase level Clpptm1a(EUCOMM)Wtsi HOM Early adult 5.87×10-08
decreased memory-marker CD4-positive NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased mature B cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

2 Images

Spleen Immunophenotyping

Images associated with FACS analysis

48 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Eye Morphology

Images Slit Lamp

5 Images

Bone marrow immunophenotyping

Images associated with FACS analysis

5 Images

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

10 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Forepaw

2 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 126 images

View all 9 images

Human diseases caused by Clpp 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 Clpp by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 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
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Dysplasia Of Head Of Femur, Meyer Type
Limited hip movement, Multicentric femoral head ossification, Delayed femoral head ossification, ... ORPHA:168621
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Immunodeficiency 15B
Failure to thrive, Monocytosis, Reduced natural killer cell count OMIM:615592
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair... OMIM:301101
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
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
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Failure to thrive, Neutr... OMIM:619644
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly... ORPHA:486
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... OMIM:620632
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 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp... OMIM:237800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholesterole... OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertonia, Anemia, Hemophagocytos... OMIM:267700
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spinocerebellar Ataxia 32
Infertility, Ataxia, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Elevated circulating C-reactive protein conc... OMIM:615559
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Infantile Sialic Acid Storage Disease
Osteopenia, Vacuolated lymphocytes, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hy... OMIM:209950
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor, Dystonia OMIM:613724
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Low-set ears, Elevated circulating creatine kinase concentration, Osteop... OMIM:614727
Hemochromatosis, Type 2A
Azoospermia, Arthritis, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Lethargy OMIM:602390
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4... OMIM:618204
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Splenomegaly, Abnormal ... OMIM:617514
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Immunodeficiency 32B
Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbumi... OMIM:226990
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Optic atrophy, Cranial hyperostosis, Hypertonia, Pancytopenia, Hypocalcemia, Increa... OMIM:259720
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... OMIM:603552
Deleted in azoospermia
Azoospermia OMIM:400003
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypertonia, Anemia, Hemophagocytosis, Pancytopenia, Tetraplegia, Hypoprotei... OMIM:603553
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight loss, Thro... ORPHA:507
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Elevated circulating creatine kinase concent... OMIM:160120
Forsythe-Wakeling Syndrome
Low-set ears, Decreased body weight, Osteoporosis, Macrotia, Thrombocytopenia OMIM:613606
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Cholestasis, Progressive Familial Intrahepatic, 12
Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Recurrent otitis media, Increased proportion of memor... OMIM:618982
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hemochromatosis, Type 3
Anemia, Arthritis, Impotence, Increased circulating iron concentration, Lymphopenia, Elevated tra... OMIM:604250
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia OMIM:619302
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hypermanganesemia With Dystonia 1
Bradykinesia, Increased total iron binding capacity, Abnormality of extrapyramidal motor function... OMIM:613280
Ataxia-Pancytopenia Syndrome
Babinski sign, Decreased nerve conduction velocity, Anemia, Pancytopenia, Ankle clonus, Thrombocy... OMIM:159550
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Steppage gait, Streak ovary, A... ORPHA:168563
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Hyperbilirub... ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... OMIM:613101
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Failure to thrive, Thrombocytopenia, Leukopeni... OMIM:229050
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Sensorineural hearing impairment, Increased le... ORPHA:79237
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Young Syndrome
Bronchiectasis, Azoospermia OMIM:279000
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolyti... ORPHA:713
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Sensorineural hear... OMIM:612541
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Absence of... ORPHA:432
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Ataxia, Hypogonadism, Lymphopenia, Hypoal... OMIM:617575
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Spasticity, I... OMIM:620565
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, EEG abnormali... OMIM:612126
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic... OMIM:301310
48,Xxyy Syndrome
Chronic otitis media, Hypoplasia of penis, Azoospermia, Infertility, Tremor, Hypergonadotropic hy... ORPHA:10
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Ring Chromosome 21 Syndrome
Diabetes insipidus, Azoospermia, Infertility, Decreased circulating antibody level, Gait disturba... ORPHA:1445
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Anemia, Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Dystonia, Thrombocytopenia... ORPHA:289916
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia ORPHA:2183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anemia, Failure to thrive, Hyperammonemia, Dystonia, Thrombocytopenia, Splenomegal... ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Increased serum bile acid concentration, Iron deficiency a... OMIM:616278
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Anemia, Macrocytic anemia, Paraparesis, Hyperammonemia, Thrombocytopenia, Leukopen... ORPHA:27
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... OMIM:620603
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Cog4-Cdg
Limb hypertonia, Thrombocytopenia, Hepatosplenomegaly, Ataxia, Failure to thrive in infancy, Hype... ORPHA:263501
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Splenomegaly, Abno... OMIM:269840
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Ketotic hypoglycemia, Increased body weight, ... ORPHA:79240
Harderoporphyria
Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen... OMIM:618892
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, T lymphocytopenia, S... OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Failure to thrive, Thro... OMIM:618048
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Reduced bone mineral density, Thrombocytopenia, Splenome... ORPHA:848
Specific Granule Deficiency 2
Amelogenesis imperfecta, Osteopenia, Recurrent otitis media, Anemia, Abnormal pinna morphology, L... OMIM:617475
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... OMIM:618378
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism ORPHA:3000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
48,Xyyy Syndrome
Acne, Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Spermatogenic Failure 17
Male infertility OMIM:617214
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Bone-marrow f... OMIM:278000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Recurrent otitis media, Increased B cell count, Increased T cell count, Failure to th... ORPHA:98813
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Increased body weight, Abnormal erythrocyte e... ORPHA:264580
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoies... OMIM:615285
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Propionic Acidemia
Anemia, Limb hypertonia, Pancytopenia, Osteoporosis, Failure to thrive, Hyperammonemia, Dystonia,... OMIM:606054
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Systemic Lupus Erythematosus 17
Chorea, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly, Spasticity OMIM:610329
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thri... ORPHA:79303
Chronic Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy... ORPHA:529799
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Weight loss, Osteolysis ORPHA:100024
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Isolated Agammaglobulinemia
Anemia, Arthritis, Abnormal lymphocyte morphology, Failure to thrive, Thrombocytopenia, Otitis me... ORPHA:229717
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Joint hypermobility, Hypoalbuminemia, Microcytic anemia OMIM:619013
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Limb dystonia, Rigidity, Splenom... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Low-set ears, Camptodactyly, Failure to thrive, Thrombocytopenia, Hypoalbuminemia, Elevat... OMIM:608104
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Failure to... OMIM:300200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Reduced bone mineral density, Anemia of inadequate p... ORPHA:231222
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Anemia, Calvarial osteosclerosis, Pancytopenia, Hyp... OMIM:259700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb... ORPHA:822
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Gait disturbance, Abnormality of the ovary, Hypogonadism ORPHA:1875
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Azoospermia, Infertility, Chronic rhinitis, Patent ductus arteriosus, C... OMIM:618300
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
3-Methylglutaconic Aciduria Type 4
Spasticity, Hearing impairment, Failure to thrive, Thrombocytopenia, Hypoglycemia ORPHA:67048
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Abetalipoproteinemia
Osteopenia, Babinski sign, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Hypotrig... ORPHA:14
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Ataxia, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Failure to thrive, Loss of ambulation, Female infertility, Mitoc... OMIM:619518
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... OMIM:615615
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti... OMIM:266200
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Bone cyst, Failure to thrive, Increased C-peptide level, ... ORPHA:528
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Graft Versus Host Disease
Limited elbow movement, Dupuytren contracture, Hemophagocytosis, Hyperbilirubinemia, Arthritis, F... ORPHA:39812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Pancytopenia, B lymphocytopenia, T lymphocytopenia, Cellulitis, Leukopeni... OMIM:618986
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukocytosis, Hyp... ORPHA:247353
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sensorineural hearing impairment, Megaloblastic anemia, Abnormal autonomic nervous... OMIM:598500
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hemochromatosis, Type 4
Anemia, Glucose intolerance, Impotence, Impaired glucose tolerance, Diabetes mellitus, Osteoarthr... OMIM:606069
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia OMIM:616176
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... ORPHA:3240
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Abnormality of extrapyramidal motor function, Chorea, Clumsiness, ... OMIM:615673
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive, Hyponatrem... OMIM:613845
Phosphoglycerate Dehydrogenase Deficiency
Hypertonia, Hypsarrhythmia, Megaloblastic anemia, Thrombocytopenia, Spastic tetraplegia OMIM:601815
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Inguinal hernia, Failure to thr... OMIM:614857
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Reduced bone mineral density, Secondary amenor... ORPHA:79239
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Premature ovarian insufficiency, Steat... OMIM:212065
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number, Difficulty walking, Gait disturbance ORPHA:352470
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Fetal Cytomegalovirus Syndrome
Optic atrophy, Anemia, Sensorineural hearing impairment, Thrombocytopenia, Splenomegaly, Conjugat... ORPHA:294
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,... ORPHA:2298
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Panniculitis, Arthritis, Failure to thrive, Thrombocytopenia, Splen... OMIM:617591
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Hypercholesterolemia, Decreased motor nerve conduction velocity OMIM:607250
Kennedy Disease
Erectile dysfunction, Gait disturbance, Type II diabetes mellitus, Decreased fertility, Testicula... ORPHA:481
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hyperammonemia, Leuko... ORPHA:470
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Anemia, Facial palsy, Failure to thrive, Thrombocytopenia, Splenome... OMIM:615085
Mirage Syndrome
Hyperkalemia, Anemia, Radial club hand, Paraplegia, Decreased body weight, Hypergonadotropic hypo... OMIM:617053
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia... ORPHA:330015
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Sensorineural hearing impairment, Thrombocytopeni... ORPHA:540
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Sensorineural hearing impairment, Failure ... ORPHA:47
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Rhabdoid Tumor
Anemia, Cerebral palsy, Hypercalcemia, Thrombocytopenia, Weight loss, Hemiplegia ORPHA:69077
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Hyponatremia, Thrombocytopenia, Paral... ORPHA:83601
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypertonia, Abnormal circulating threonine concentr... ORPHA:79096
Hemochromatosis, Type 2B
Anemia, Secondary amenorrhea, Increased circulating iron concentration, Splenomegaly, Hypogonadis... OMIM:613313
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Elevated circulating creatine ki... OMIM:208920
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Sensorineural hearing impairment, Menorrhagia, Thrombocytopenia, M... OMIM:124900
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Overlap Myositis
Abnormal circulating lipid concentration, Abnormality of connective tissue, Arthritis, Elevated c... ORPHA:206572
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Bone Marrow Failure Syndrome 4
Anemia, Low-set ears, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:618116
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Spinocerebellar Ataxia With Axonal Neuropathy Type 1