Gene Summary

Name:
CDK5 regulatory subunit associated protein 2
Synonyms:
2900018K03Rik,  an

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
decreased bone mineral content Cdk5rap2tm1a(EUCOMM)Wtsi HOM   Early adult 2.03×10-05
increased mean corpuscular volume Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 4.43×10-14
abnormal head morphology Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 3.15×10-05
abnormal cranium morphology Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 5.60×10-06
decreased body weight Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 1.38×10-07
increased mean corpuscular hemoglobin Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 2.32×10-09
decreased erythrocyte cell number Cdk5rap2tm1a(EUCOMM)Wtsi HOM   Early adult 1.38×10-05
decreased lean body mass Cdk5rap2tm1a(EUCOMM)Wtsi HOM   Early adult 1.97×10-05
decreased leukocyte cell number Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 4.37×10-08

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood vessel 0.0%
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
peripheral nervous system 0.35% (2 of 579)
peyer's patch 0.59% (1 of 170)
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
uterus 0.35% (2 of 579)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

Legacy Phenotype Associated Images

View all 58 images

Human diseases caused by Cdk5rap2 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 Cdk5rap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygy... ORPHA:2512
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... OMIM:604804

The table below shows human diseases predicted to be associated to Cdk5rap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Immunodeficiency 40
Lymphopenia OMIM:616433
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Diamond-Blackfan Anemia 5
Hypospadias, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... ORPHA:86841
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Scoliosis ORPHA:2802
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size OMIM:601815
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Micropenis, Splenomegaly,... OMIM:613673
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Fanconi Anemia, Complementation Group A
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Male infertility, Pancytop... OMIM:227650
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Fanconi Anemia, Complementation Group E
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... OMIM:600901
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Atransferrinemia
Hypochromic anemia OMIM:209300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Lymphopenia, Sparse hair, Narrow vertebral interpedicular distance, Congeni... OMIM:250250
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Transcobalamin Ii Deficiency
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia OMIM:275350
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia OMIM:105600
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Hypospadias, Glandular hypospadia... ORPHA:2575
Hyperlysinemia, Type I
Anemia OMIM:238700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... OMIM:601775
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Fanconi Anemia, Complementation Group C
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... OMIM:227645
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Malignant genitourinary tract tumor, Neutropenia, Low anterior... ORPHA:124
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... ORPHA:3319
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia ORPHA:27
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Hypogonadism, Azoos... OMIM:615234
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly ORPHA:46532
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Sparse hair, Breast carcinoma, Long eyelashes, Anemia OMIM:617883
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia... ORPHA:508542
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia OMIM:613309
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Nephronophthisis
Anemia ORPHA:655
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Spermatogenic Failure 50
Azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia OMIM:236270
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t... ORPHA:83469
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Micropenis, Hypergonadotropic hypogonadism, Anemia, Thrombocytopen... OMIM:227646
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Pancreatic fibrosis, Refractory sideroblas... OMIM:557000
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Back pain, Ovarian neoplasm, Metr... ORPHA:370348
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemia, Hypoplastic sacral vertebrae, Sho... OMIM:105650
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Prostate cancer, Breast carcin... ORPHA:157798
Wt Limb-Blood Syndrome
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia OMIM:194350
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... OMIM:235700
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Low posterior hairline, Sparse eyebrow, Macrocytic anemia OMIM:606164
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Refractory Celiac Disease
Increased proportion of HLA DR+ T cells, Normocytic anemia, Lymphoma, Iron deficiency anemia, Mac... ORPHA:398063
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Osteoporosis, Macrocytic anemi... ORPHA:2169
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Hypogonadism ORPHA:98673
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia OMIM:300752
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Hepatosple... OMIM:609628
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
Triosephosphate Isomerase Deficiency
Cholelithiasis, Kyphosis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, C... OMIM:615512
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Anemia, Distichiasis, Scoliosis ORPHA:2598
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Ichthyosis And Male Hypogonadism
Hyperchromic macrocytic anemia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Male hypo... OMIM:308200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... OMIM:611590
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Microcytic anem... ORPHA:848
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Distichiasis, Sideroblastic anemia, E... OMIM:600462
Autoimmune Polyendocrinopathy Type 4
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macro... ORPHA:227990
Gonadoblastoma
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... ORPHA:206484
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Congenital Atransferrinemia
Anemia ORPHA:1195
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Scoliosis, Macrocytic anemia OMIM:612562
Vexas Syndrome
Myelodysplasia, Thrombocytopenia, Macrocytic anemia OMIM:301054
Autoimmune Polyendocrinopathy Type 3
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Autoi... ORPHA:227982
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Neoplasm, Ovarian neoplasm, Hypopigmentation ... ORPHA:2221
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Celiac Disease, Susceptibility To, 1
Infertility, Alopecia, Lymphoma, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Decreased response to growth hormone stimulation ... ORPHA:811
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... ORPHA:2325
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian cy... OMIM:158350
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia OMIM:604416
Ollier Disease
Chondrosarcoma, Neoplasm, Precocious puberty, Lymphangioma, Hemangioma, Platyspondyly, Multiple e... ORPHA:296
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Alpha-Heavy Chain Disease
Alopecia, Splenomegaly, Lymphoma, Anemia, Premature ovarian insufficiency ORPHA:100025
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Nail dystrophy, Anemia, Scarring alopecia of scalp ORPHA:79402
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Anemia OMIM:604250
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia, Scoliosis OMIM:618811
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Secondary amenorr... ORPHA:902
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly OMIM:618852
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Chromosome 15Q25 Deletion Syndrome
Short neck, Macrocytic anemia, Synophrys, Cryptorchidism, Polysplenia OMIM:614294
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal form of the vertebral bodies, Splenomegaly ORPHA:1802
Srd5A3-Cdg
Kyphosis, Hypertrichosis, Decreased response to growth hormone stimulation test, Microcytic anemi... ORPHA:324737
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the eyebrow, Hypospadias, Short neck, Microcytic anemia, HbH hemoglobin, Cr... ORPHA:98791
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:314050
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Hepatosplenomegaly, Short neck, Scoliosis, Fibroma, Microcytic anemia OMIM:619750
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia OMIM:277380
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Decreased fertility in males, Erectile dysfunction, H... ORPHA:91349
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Scarring alopecia of scalp, Neoplasm of the skin, Facial ... ORPHA:79277
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Hemochromatosis, Type 2B
Anemia, Secondary amenorrhea, Splenomegaly, Hypogonadism OMIM:613313
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Sclerotic vertebral endplates, Anemia, Thrombo... OMIM:611490
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Eosinophilia, Norm... ORPHA:199299
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy OMIM:300322
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Hypospadias, Short neck, Hyperlordosis, Fused cervica... ORPHA:2522
Hydatidiform Mole
Menometrorrhagia, Anemia, Enlarged uterus ORPHA:99927
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Abnormality of hair texture, Hypogonadism ORPHA:79351
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... ORPHA:86839
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Hypospadias, Microcytic anemia OMIM:618972
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Myelodysplasia, Anemia, Thrombocytopenia, Acute myeloid leu... OMIM:619151
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Blue Rubber Bleb Nevus
Microcytic anemia, Cavernous hemangioma, Visceral angiomatosis ORPHA:1059
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hypoparathyro... ORPHA:231222
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Potocki-Shaffer Syndrome
Anemia, Nephroblastoma, Exostoses, Micropenis ORPHA:52022
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hemangiomatosis, Anemia, Thrombocytopenia, Visceral angiomatosis ORPHA:2123
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:616738
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
3-Methylglutaconic Aciduria, Type V
Hypospadias, Cryptorchidism, Normochromic microcytic anemia, Decreased testicular size OMIM:610198
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Synophrys, Neutropenia OMIM:618067
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Anemia, Spinal rigidity, Alopecia ORPHA:337
Malaria
Anemia, Thrombocytopenia ORPHA:673
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Abnormal endometrium morphology, Metrorrhagia, G... ORPHA:314478
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Chol... OMIM:232800
Tufted Angioma
Hypertrichosis, Facial hemangioma, Neoplasm of the skin, Anemia, Thrombocytopenia, Hemangioma of ... ORPHA:1063
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Scoliosis, Hypopituitarism OMIM:619013
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygy... ORPHA:2512
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Thoracic scoliosis, Micropenis, Hypergonadotropic hypogonadis... ORPHA:2959
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Anemia, Splenomegaly OMIM:612714
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Microcytic anemia ORPHA:79278
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Cryptorchidism, Hyperlordosis ORPHA:1192
Transaldolase Deficiency
Anemia, Abnormality of the clitoris, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Cronkhite-Canada Syndrome
Hypoplastic toenails, Neoplasm, Patchy alopecia, Alopecia, Sparse body hair, Splenomegaly, Aplasi... ORPHA:2930
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Nail dysplasia, Urethral stricture, Nail dystrophy, Anemia, Scarring alopecia of scalp OMIM:226670
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis OMIM:168400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Anemia, Hypoplasia of penis, Splenomegaly ORPHA:1046
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Familial Multinodular Goiter
Sertoli cell neoplasm, Ovarian neoplasm, Thyroid carcinoma, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Retic... OMIM:266200
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:612653
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia OMIM:613561
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hirsutism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Microcytic anemia, Decr... ORPHA:293967
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Dermotrichic Syndrome
Abnormal vertebral morphology, Hyperconvex toenail, Anemia, Nail dystrophy ORPHA:99688
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myelop... ORPHA:98849
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Breast carcinoma, Benign gastrointestinal ... OMIM:158320
Specific Granule Deficiency 2
Nail dysplasia, Hirsutism, Fragile nails, Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, ... OMIM:617475
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Hereditary Elliptocytosis
Cholelithiasis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elli... ORPHA:288
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Micropenis, Cervical spinal canal stenosis, Scoliosis, Hypoplasia of the prostate, Cryp... OMIM:301900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... OMIM:271530
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:618892
Acatalasemia
Microcytic anemia, Neoplasm of the larynx ORPHA:926
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Sandhoff Disease
Kyphosis, Splenomegaly ORPHA:796
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anonychia, Urethral stricture, Vaginal stricture, Nail dystrophy, Anemia ORPHA:79409
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Infertility, Megaloblastic anemia, Shawl scrotum OMIM:219721
Aarskog Syndrome, Autosomal Dominant
Rectoperineal fistula, Macrocytic anemia, Shawl scrotum, Widow's peak, Cryptorchidism, Cervical s... OMIM:100050
Zimmermann-Laband Syndrome 3
Kyphosis, Hypertrichosis, Low anterior hairline, Thick eyebrow, Facial hypertrichosis, Long eyela... OMIM:618658
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Microcytic anemia OMIM:612379
H Syndrome
Histiocytosis, Amenorrhea, Hypertrichosis, Abnormal eyebrow morphology, Micropenis, Alopecia, Hep... ORPHA:168569
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ga... ORPHA:2869
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism ORPHA:85288
Oslam Syndrome
Osteosarcoma, Anemia, Neoplasm OMIM:165660
Klippel-Trénaunay Syndrome
Hemangioma, Microcytic anemia, Abnormality of the menstrual cycle ORPHA:90308
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Decreased fertility in males, Ench... ORPHA:1359
Familial Pancreatic Carcinoma
Neoplasm of the liver, Back pain, Breast carcinoma, Hepatosplenomegaly, Melanoma, Ovarian carcino... ORPHA:1333
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... OMIM:180295
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Addison Disease
Hypoparathyroidism, Thymoma, Sparse axillary hair, Normocytic anemia, Primary testicular failure,... ORPHA:85138
Weismann-Netter Syndrome
Kyphosis, Anemia, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Premature graying of hair, Abnormal hair quantity, Scoli... ORPHA:2617
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Reticular Dysgenesis