Gene: Ube2b MGI:102944

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Gene Summary

Name:
ubiquitin-conjugating enzyme E2B
Synonyms:
E2-14k,  HR6B,  Rad6b

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 lymphocyte cell number Ube2btm1b(EUCOMM)Wtsi HET   Early adult 2.30×10-05
decreased neutrophil cell number Ube2btm1b(EUCOMM)Wtsi HET   Early adult 2.68×10-05
decreased circulating cholesterol level Ube2btm1a(EUCOMM)Wtsi HET Early adult 3.18×10-06
increased circulating alkaline phosphatase level Ube2btm1a(EUCOMM)Wtsi HET   Early adult 1.75×10-05
increased leukocyte cell number Ube2btm1b(EUCOMM)Wtsi HET Early adult 4.35×10-05
abnormal gait Ube2btm1b(EUCOMM)Wtsi HET Early adult 6.50×10-07
abnormal coat appearance Ube2btm1b(EUCOMM)Wtsi HET Early adult 7.65×10-06
enlarged heart Ube2btm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal behavior Ube2btm1a(EUCOMM)Wtsi HET Early adult 4.51×10-07
limb grasping Ube2btm1b(EUCOMM)Wtsi HET Early adult 1.09×10-06
decreased basophil cell number Ube2btm1b(EUCOMM)Wtsi HET Early adult 5.38×10-05
preweaning lethality, incomplete penetrance Ube2btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

28 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Ube2b mutations

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

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

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

The table below shows human diseases predicted to be associated to Ube2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia, Intention tremor OMIM:266130
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Unsteady gait... OMIM:159550
Young Syndrome
Azoospermia OMIM:279000
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Specific Granule Deficiency 2
Absent neutrophil specific granules, Hirsutism, Neutropenia, Thrombocytopenia, Anemia OMIM:617475
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... ORPHA:320391
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia OMIM:616949
Barth Syndrome
Endocardial fibroelastosis, Gait disturbance, Neutropenia, Granulocytopenia, Dilated cardiomyopat... OMIM:302060
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:603552
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Developmental And Epileptic Encephalopathy 66
Neutropenia, Synophrys, Anemia, Abnormal cardiac septum morphology, Broad-based gait OMIM:618067
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Ethanolaminosis
Cardiomegaly OMIM:227150
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis OMIM:229050
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly hair, Chronic neutropenia, Neutropenia, Sparse pubic hair, ... OMIM:258360
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
3-Methylglutaconic Aciduria, Type Viii
Tremor, Neutropenia, Dystonia OMIM:617248
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Diabetes mellitus, Oligosp... OMIM:602668
Hemochromatosis, Type 3
Lymphopenia, Cardiomyopathy, Neutropenia, Anemia OMIM:604250
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Dystonia, Chronic neutropenia OMIM:619301
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Dystonia, Chronic neutropenia, Anemia OMIM:619302
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Cardiomyop... ORPHA:79312
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Difficulty walking, Hepatomegaly, Neutropenia, Microcytic anemia OMIM:251900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:289916
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplas... OMIM:308240
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Immunodeficiency 55
Neutropenia OMIM:617827
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Hypopigmentation of hair, Abnormal dense granules, Gait disturbance, Si... OMIM:214500
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Ciliary Dyskinesia, Primary, 19
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:614935
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Whim Syndrome 1
Neutropenia OMIM:193670
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Lichtenstein Syndrome
Hirsutism, Neutropenia, Synophrys OMIM:246550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Fluctuating sp... OMIM:619220
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Atrial septal defect, Neutropenia, Thrombocytopenia, Anemia OMIM:614857
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu... OMIM:612541
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neu... OMIM:169400
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Schimke Immunoosseous Dysplasia
Lymphopenia, Coarse hair, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gai... OMIM:242900
Acquired Partial Lipodystrophy
Generalized hirsutism, Lymphocytosis ORPHA:79087
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251100
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatom... ORPHA:398124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Ataxia, Macrothrombocytopenia OMIM:603585
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Gait ataxia, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:572
Cartilage-Hair Hypoplasia
Sparse hair, Sparse facial hair, Lymphopenia, Impaired lymphocyte transformation with phytohemagg... OMIM:250250
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Macrocytic anemia OMIM:275350
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Low anterior hairline, Atrial septal defect, Enlarged kidney, Hirsutism, Coars... OMIM:617303
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Thrombocytopenia... ORPHA:292
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Retinal Venous Beading
Neutropenia OMIM:180080
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Propionic Acidemia
Dystonia, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Cardiomyop... OMIM:606054
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Necrotizing Enterocolitis
Lethargy, Abnormal heart morphology, Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Methylmalonic Aciduria, Cblb Type
Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251110
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Dysmetria, Splenomega... OMIM:256550
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Fair hair, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Cardiomegaly, Spl... OMIM:252920
Hermansky-Pudlak Syndrome 10
Dystonia, Albinism, Neutropenia, Hepatomegaly, Splenomegaly OMIM:617050
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Chédiak-Higashi Syndrome
Inability to walk, Hemophagocytosis, Tremor, Hypopigmentation of hair, Increased proportion of CD... ORPHA:167
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Lethargy, Auto... ORPHA:1959
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Elevated c... OMIM:618156
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Difficulty walking, Neutropenia, Hep... ORPHA:1667
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia... ORPHA:47612
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Cohen Syndrome
Mitral valve prolapse, Thick eyebrow, Neutropenia, Leukopenia OMIM:216550
Hermansky-Pudlak Syndrome 2
Albinism, Neutropenia, Fair hair, Thrombocytopenia, Reduced natural killer cell count, Hepatomega... OMIM:608233
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Anemia, Alopecia ORPHA:47
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligospermia OMIM:614813
Gapo Syndrome
Hypogonadism, Dysmenorrhea, Oligospermia, Amenorrhea ORPHA:2067
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Congenital Toxoplasmosis
Thrombocytopenia, Cardiomegaly, Anemia, Hepatomegaly ORPHA:858
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia OMIM:277380
Methylcobalamin Deficiency Type Cble
Lethargy, Neutropenia, Pancytopenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Lethargy, Neutropenia, Abnormal heart morphology ORPHA:79284
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Infection associated neutropenia, Neutropenia, Cardiomyopathy ORPHA:445038
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Myeloproli... ORPHA:3226
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphope... OMIM:613179
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dystonia, Neutropenia, Ataxia, Thick eyebrow, Hypertrophic cardiomyopathy OMIM:615471
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Neutropenia, Ventricular septal defect OMIM:609053
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... ORPHA:508542
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Ataxia, Abscess, Eosinophilia OMIM:615816
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly ORPHA:86843
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Long eyelashes, Synophrys, Hepatomegaly, Cardiomegaly OMIM:619064
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:600901
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Widow's peak, Reduction of neutrophil motility OMIM:266265
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:308230
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Shwachman-Diamond Syndrome
Abnormal heart morphology, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Norm... ORPHA:811
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227650
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Low anterior hairline, Erythroid hypoplasia, Letharg... ORPHA:124
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Abet... ORPHA:96180
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Abnormal cardiac septum morphology, Hirsutism, Neutropenia OMIM:618005
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cardiomegaly, ... OMIM:619259
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:209950
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277400
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Trichothiodystrophy
Gait ataxia, Increased mean corpuscular hemoglobin concentration, Ventricular septal defect, Tige... ORPHA:33364
Whim Syndrome
Limb ataxia, Lymphopenia, Neutropenia, Tetralogy of Fallot, Abnormality of neutrophil morphology ORPHA:51636
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Hepatomegaly, Neutropenia, Normocytic anemia OMIM:617941
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Leigh Syndrome
Dystonia, Ventricular septal defect, Neutropenia, Ataxia, Hypertrichosis, Frontal hirsutism, Alop... ORPHA:506
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Abnormal hair whorl, Ventricular septal defect, Neutropenia, Synophrys, Lum... ORPHA:163956
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, ... OMIM:618278
Carnitine Deficiency, Systemic Primary
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227645
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Abnormal lymphocyte morphology, Hepatomegaly, Sp... ORPHA:39041
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Cohen Syndrome
Low anterior hairline, Thick hair, Ventricular septal defect, Abnormal eyelash morphology, Long e... ORPHA:193
Psoriasis 14, Pustular
Neutrophilia, Nail dystrophy, Leukocytosis OMIM:614204
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Hepatomegaly, Splenomegaly, Myocarditis, Neutrophilia ORPHA:829
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810