Gene Summary

Name:
WD repeat domain 1
Synonyms:
D5Wsu185e,  Aip1,  rede

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
preweaning lethality, complete penetrance Wdr1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to organogenesis Wdr1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Bone  Wholemount images heterozygote Ambiguous
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote Ambiguous
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver 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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Skeletal muscle 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)
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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote Ambiguous
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 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%
mesenteric lymph node 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)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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)
atrium 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

Associated Images

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

Eye Morphology

VIP of right fundus

16 Images

Adult LacZ

LacZ Images Wholemount

8 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Wdr1 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 Wdr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550

The table below shows human diseases predicted to be associated to Wdr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia and progressive sensorineural deafness
Progressive sensorineural hearing impairment, Abnormal bleeding, Prolonged bleeding time, Macroth... OMIM:600208
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Giant platelets, Prolonged bleeding time OMIM:608404
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Bruising susceptibility, Thrombocytopenia, Leukocyte ... OMIM:153640
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Pneumonia, Thrombo... ORPHA:238459
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Low-frequency hearing loss, Sensorineural hearing impairment, Progressive heari... OMIM:124900
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Abnormality of the pinn... OMIM:617475
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:294
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... OMIM:614493
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Refractory Anemia
Erythroid hypoplasia, Abnormal bleeding, Neutropenia, Normocytic anemia, Thrombocytopenia, Normoc... ORPHA:98826
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutro... OMIM:169400
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia ORPHA:3319
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Platelet Disorder, Undefined
Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Abnormal number of alpha granules, Imp... OMIM:139090
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Bruising su... ORPHA:3226
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Blue Rubber Bleb Nevus
Skin rash, Intestinal bleeding, Prolonged bleeding time, Microcytic anemia ORPHA:1059
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly OMIM:603552
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage, Abnormality of neuronal migration ORPHA:1980
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema OMIM:300988
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Low-frequency sensorineural hearing impairment, Abnormal natural killer cell ph... OMIM:613101
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Gastrointestinal hemorrhage, Epistaxis... OMIM:187900
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, J... OMIM:313900
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... ORPHA:721
Essential Thrombocythemia
Prolonged bleeding time, Myelofibrosis, Splenomegaly, Abnormal thrombocyte morphology, Abnormal p... ORPHA:3318
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Abnormality of the pinna, Crusting erythemat... ORPHA:79147
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutr... ORPHA:75564
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis, Macrotia OMIM:613606
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Abnormal bleeding, Increased circulating IgA level OMIM:314000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... OMIM:614075
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Arthritis, Cystic acne, Knee flexion co... OMIM:604416
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Eczema, Psoriasiform dermatitis OMIM:617443
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Bruising susceptibility, Abnormal number of dense granules OMIM:614072
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Anemia, Sinusitis, Leukopenia, Eczema, Osteomyel... ORPHA:811
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Nephrotic Syndrome, Type 7
Thrombocytopenia, Glomerulonephritis, Hemolytic anemia OMIM:615008
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Radioulnar synostosis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Sensorineural ... OMIM:616738
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Majeed Syndrome
Skin rash, Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Anemia of inadequate pr... OMIM:609628
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Malaria
Thrombocytopenia, Anemia ORPHA:673
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Sensorineural hearing ... OMIM:598500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Simplified gyral pattern OMIM:619302
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu... OMIM:616871
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Neonatal Lupus Erythematosus
Skin rash, Abnormal bleeding, Parakeratosis, Hemolytic anemia, Hyperkeratosis, Neutropenia, Macul... ORPHA:398124
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Hyperostosis, Anemia, Sinusitis, Eczema, ... ORPHA:906
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Thyrocerebrorenal Syndrome
Thrombocytopenia, Sensorineural hearing impairment, Nephritis ORPHA:3327
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar he... OMIM:616050
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Tularemia
Skin rash, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Pneumonia, Thro... ORPHA:3392
Chilblain Lupus
Skin rash, Hyperkeratosis, Increased circulating antibody level, Pruritis on hand, Discoid lupus ... ORPHA:90280
Wt Limb-Blood Syndrome
Radioulnar synostosis, Joint contracture of the 5th finger, Thrombocytopenia, Hypoplastic anemia,... OMIM:194350
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Leishmaniasis
Abnormal bleeding, Abnormal macrophage morphology, Increased circulating antibody level, Pancytop... ORPHA:507
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia, Simplified gyral pattern OMIM:619301
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture, Chilblains OMIM:612952
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Atopic dermatitis, Splenomegaly OMIM:615846
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia OMIM:613501
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly ORPHA:425
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Joint hypermobility, Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic... OMIM:618282
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Epistaxis, Petechia... OMIM:612840
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Petechiae, Anemia, Splenom... OMIM:611490
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, B ... OMIM:603554
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Splenomegaly, Blepharitis ORPHA:158029
Nephronophthisis
Anemia ORPHA:655
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Ebola Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Leukopeni... ORPHA:319218
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Pruritus, Osteolysis, Gastrointestinal he... ORPHA:98850
Thyrocerebroretinal Syndrome
Thrombocytopenia, Sensorineural hearing impairment, Nephritis OMIM:274240
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Increased bone mineral densit... ORPHA:37748
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613736
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia OMIM:617638
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Hemolytic anemia, Pericarditis, Prolonged bleeding time, Purpura, Gastroin... ORPHA:809
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Hearing impairment, Anemia OMIM:614946
Crimean-Congo Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Uveitis, Epistaxis, Thrombocytopenia, ... ORPHA:99827
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Thrombocytopenia, Conjunctivit... ORPHA:47
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Abnormal bleeding, Thrombocytosis, Abnormal erythrocyte morphology, Bone ma... ORPHA:86841
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Recurrent fractures, O... OMIM:259710
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymphopenia, Recurre... ORPHA:277
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportio... ORPHA:331206
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Pancreatitis, Neutropenia, Anemia ORPHA:289916
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Say-Barber-Miller Syndrome
Craniosynostosis, Macrotia, Decreased circulating antibody level, Low-set, posteriorly rotated ea... ORPHA:3132
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Marburg Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocyt... ORPHA:99826
Generalized Eruptive Histiocytosis
Pruritus, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia ORPHA:157991
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Hearing impairment ORPHA:67048
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphoc... ORPHA:100026
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Purpura, Decreased circulating antibody level, Erythroderma, Neutrop... ORPHA:540
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Reduced bone mineral density, Hepatitis, Anemia, Splenomegal... ORPHA:848
Cyclic Neutropenia
Peritonitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Periodontitis, Thrombocytope... ORPHA:2686
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:246400
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:619151
Felty Syndrome
Recurrent pneumonia, Osteolysis, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis med... ORPHA:47612
Dengue Fever
Skin rash, Pruritus, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Petechiae, Cerebra... ORPHA:99828
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Skin rash, Pruritus, Maculopapular exanth... ORPHA:98848
Cinca Syndrome
Progressive sensorineural hearing impairment, Skin rash, Leukocytosis, Uveitis, Hearing impairmen... OMIM:607115
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Posteriorly rotated ears, Joint laxity, Osteoporosis OMIM:614727
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eczema, Atopic dermatitis, Subarachnoid hemorrhage, Eosinophilia OMIM:243700
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Drug-Induced Lupus Erythematosus
Pericarditis, Thrombocytopenia, Petechiae, Malar rash, Anemia, Serositis ORPHA:231111
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Purpura, Leukocytosis, Oral cavity bleeding, Neutropenia, Stomatit... ORPHA:520
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneumonia, Panc... OMIM:614700
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Petechiae,... ORPHA:83313
Isovaleric Acidemia
Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity OMIM:243500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Gaucher Disease, Type Ii
Thrombocytopenia, Recurrent aspiration pneumonia, Anemia, Splenomegaly OMIM:230900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Immunodeficiency 55
Eczema, Recurrent skin infections, Neutropenia OMIM:617827
Sengers Syndrome
Thrombocytopenia OMIM:212350
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Takenouchi-Kosaki Syndrome
Camptodactyly, Increased mean platelet volume, Thrombocytopenia, Posteriorly rotated ears, Sensor... OMIM:616737
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Abnormal B cell count, Anemia, Sp... ORPHA:100024
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Pancreatitis, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Acquired Purpura Fulminans
Skin rash, Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Prolo... ORPHA:49566
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Atopic dermatitis OMIM:618624
Klippel-Trénaunay Syndrome
Internal hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia ORPHA:90308
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Primary Myelofibrosis
Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesi... ORPHA:824
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Cheilitis, Pancytopenia, Thrombocytop... ORPHA:90045
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Sensorineural hearing impairment ORPHA:49827
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Chronic mucocutaneous candidiasis, Osteopenia, Eczema OMIM:614162
Babesiosis
Hemolytic anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Limitation of joint mobility ORPHA:108
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Skin rash, Craniosynostosis, Increased circulating IgE level, Eczematoid der... OMIM:147060
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Congenital Toxoplasmosis
Thrombocytopenia, Hearing impairment, Anemia ORPHA:858
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly OMIM:613673
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia ORPHA:158014
Aregenerative Anemia
Erythroid hypoplasia, Abnormal bleeding, Decreased proportion of CD4-positive helper T cells, Bru... ORPHA:101096
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Crusting erythematou... OMIM:170100
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Sensorineural hearing impairment, Splenomegaly, Recurrent aphthous stoma... OMIM:611762
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Flexion contracture, Panniculitis, ... OMIM:617591
Congenital Rubella Syndrome
Skin rash, Thrombocytopenia, Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:290
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Thrombocytopenia, Anemia, Sinusitis, Abnorm... ORPHA:169105
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Refractory Anemia With Excess Blasts
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal hemorrhage, An... ORPHA:86839
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Congenital Enterovirus Infection
Skin rash, Abnormal bleeding, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thromboc... ORPHA:292
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hemochromatosis, Type 3
Purpura, Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Anemia ORPHA:69077
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Lathosterolosis
Osteoporosis, Conductive hearing impairment, Increased mean platelet volume, Anisopoikilocytosis,... OMIM:607330
Thrombocytopenia 6
Osteoporosis, Abnormal bleeding, Myelofibrosis, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet volume, Colitis, H... ORPHA:84064
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia OMIM:618886
Lig4 Syndrome
Thrombocytopenia, Psoriasiform dermatitis, Pancytopenia OMIM:606593
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies OMIM:185070
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switc... OMIM:608184
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Classic Mycosis Fungoides
Skin rash, Pruritus, Hyperkeratosis, Abnormal lymphocyte morphology, Splenomegaly, Eczema ORPHA:2584
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Skin rash, Chronic hepatitis due to cryptosporidium in... ORPHA:572
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Relapsing Fever
Abnormal bleeding, Leukocytosis, Epistaxis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia, P... ORPHA:91547
Thrombocythemia 2
Thrombocytosis OMIM:601977
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Anemia, Splen... ORPHA:2785
Wilson Disease
Acute hepatitis, Pruritus, Thrombocytopenia, Hepatitis, Pathologic fracture, Anemia, Splenomegaly... ORPHA:905
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Sensorineural hearing impairment, Thiamine-responsive meg... OMIM:249270
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Pruritus, Osteolysis, Palmoplantar pustulosis, Cr... ORPHA:324964
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Zika Virus Disease
Skin rash, Pruritus, Increased circulating IgM level, Myelitis, Transient hearing impairment, Mac... ORPHA:448237
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Vestibular areflexia, Atopic dermatitis, Thrombocytopenia, Absent ... ORPHA:3240
Hemochromatosis, Type 4
Osteoarthritis, Anemia OMIM:606069
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Propionic Acidemia
Osteoporosis, Neutropenia, Cerebellar hemorrhage, Pancytopenia, Thrombocytopenia, Anemia, Pancrea... OMIM:606054
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Craniosynostosis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Kerati... OMIM:618523
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly OMIM:619175
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Eczema, Perioral eczema, Keratoconjunctivitis ORPHA:79242
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Megaloblastic anemia, Neutropenia, Stomatitis, Pancytopenia, Thrombocytopenia, Microtia OMIM:277380
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gran... OMIM:618935
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash, Progressive hearing impairment, Bilateral sensorineural hearing impairment OMIM:124950
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia, Sensorineural hearing impairment OMIM:616577
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Thrombocytopenia, Polymicrogyria, Anemia, Bone marrow hypocellularity OMIM:614520
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Congenital thrombocytopenia, Petechiae, Sensorineural hearing impairment, Aplastic anemi... OMIM:605432
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Stormorken-Sjaastad-Langslet Syndrome
Abnormal thrombocyte morphology, Asplenia, Anemia, Purpura ORPHA:3204
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Splenomegaly, Anemia, Anemia of inadequate production, Osteopenia, ... OMIM:612714
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Flexion cont... ORPHA:77297
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Pruritus, Leukocytosis, Chronic lymphatic leukemia, Normocytic an... ORPHA:98849
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Intracranial hemorrhage, Low-set, posteriorly rotated ears, F... ORPHA:85212
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Protoporphyria, Erythropoietic, 1
Eczema, Pruritus, Hemolytic anemia OMIM:177000
Lesch-Nyhan Syndrome
Gout, Anemia ORPHA:510
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Psoriasis 14, Pustular
Pustule, Leukocytosis, Cholangitis, Oligoarthritis, Parakeratosis, Neutrophilia, Psoriasiform der... OMIM:614204
Autosomal Erythropoietic Protoporphyria