Gene Summary

Name:
pseudopodium-enriched atypical kinase 1
Synonyms:
C230081A13Rik,  1110049L02Rik,  NKF3 kinase family member

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
thrombocytopenia Peak1em1(IMPC)J HOM Early adult 5.18×10-05
increased lean body mass Peak1em1(IMPC)J HOM Early adult 9.45×10-07
increased startle reflex Peak1em1(IMPC)J HOM Early adult 3.23×10-10

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Peak1 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 Peak1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth, Retinal dystrophy OMIM:616108
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... OMIM:614669
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Micrognathia, Increased overbite, Retrognathia, Dental malocclusion, ... OMIM:613684
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Extramedullar... OMIM:615285
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Dental crowding, Anterior open-bite malocclusio... OMIM:602483
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Rod-cone dystrophy, Malar flattening, Patchy atrophy of the retinal pigment epithel... ORPHA:436245
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Open bite, Micrognathia, Mandibular prognathia, Denta... ORPHA:2471
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Mandibular prognathia ORPHA:1858
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Dental crowding, Th... OMIM:616331
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Cherubism
Macular scar, Oligodontia, Jaw swelling, Optic neuropathy, Marcus Gunn pupil, Alveolar ridge over... OMIM:118400
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Pseudopapilledema, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Ano... OMIM:264475
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Craniosynostosis 3
Dental malocclusion OMIM:615314
Alpha-Mannosidosis
Open bite, Craniofacial hyperostosis, Widely spaced teeth, Macroglossia, Mandibular prognathia, D... ORPHA:61
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Mental Retardation, Buenos Aires Type
High palate, Carious teeth, Mandibular prognathia, Thin upper lip vermilion, Dental malocclusion,... OMIM:249630
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Intermediate Osteopetrosis
Osteosclerosis of the base of the skull, Abnormality of dental morphology, Optic atrophy from cra... ORPHA:210110
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Dystonia, Thrombocytopenia OMIM:610329
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Carious teeth, Patent ductus arteriosus OMIM:613680
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Thrombocytopenia, Intention tremor OMIM:254900
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Mandibular prognathia, Dent... ORPHA:1327
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Lessel-Kreienkamp Syndrome
Open mouth, Thin upper lip vermilion, Dental malocclusion, Patent ductus arteriosus OMIM:619149
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Drooling, Patent ductus arteriosus, Enamel hypoplasia, Microdontia, Widely spaced... OMIM:619293
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Micrognathia, Hamartoma of tongue, Abnormality of the temporomandibula... ORPHA:137888
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Potocki-Lupski Syndrome
High palate, Micrognathia, Dental crowding, Smooth philtrum, Mandibular prognathia, Dental malocc... OMIM:610883
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Malar flattening, Mandibular prognathia, Dental malocclusion, Thick ... OMIM:603463
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Dystonia, Thrombocytopenia, Anemia OMIM:619302
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Fanconi Anemia, Complementation Group S
Breast carcinoma, Thick upper lip vermilion, Ovarian neoplasm, Macrodontia, Dental malocclusion, ... OMIM:617883
Momo Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Retinal coloboma, Thick lower lip vermilio... OMIM:157980
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Mcdonough Syndrome
Short philtrum, Micrognathia, Furrowed tongue, Mandibular prognathia, Dental malocclusion OMIM:248950
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619301
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Folate-responsive megaloblastic anemia, Neutropenia, Failure to thrive, Th... OMIM:229050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Velopharyngeal insufficiency, Thin lower lip vermilion, Carious teeth, ... ORPHA:363444
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Immunodeficiency 46
Neutropenia, Anemia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Abnormal dental enamel morphology, ... ORPHA:1873
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Oligodontia, Microdontia, Malar flattening, Dental malocclusion... OMIM:618727
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Acrootoocular Syndrome
Pseudopapilledema, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow pal... ORPHA:2980
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Dental malocclusion OMIM:612350
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia OMIM:615085
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Momo Syndrome
High palate, Chorioretinal coloboma, Long philtrum, Delayed eruption of teeth, Thick lower lip ve... ORPHA:2563
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Everted lower lip vermilion, Thick lower lip vermilion, Micrognathia, Malar flattening, Abnormali... ORPHA:85321
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Malaria
Anemia, Thrombocytopenia ORPHA:673
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Micrognathia, M... ORPHA:3473
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Micrognathia, Thin upper lip vermilion, Dental malocclusion, Optic at... ORPHA:329178
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... ORPHA:763
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Dental malocclusion, Abnormality of macular pigmentation OMIM:608940
Three M Syndrome 2
High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Dental malocclusion, Thi... OMIM:612921
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Long philtrum, Everted lower lip vermilion, Dental crowding, ... OMIM:617877
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Dystonia, Splenomegaly, Thrombocytopenia OMIM:610333
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Deep philtrum, Micrognathia... OMIM:190350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Intellectual Disability, Buenos-Aires Type
High palate, Open bite, Abnormality of dental morphology, Mandibular prognathia, Dental malocclusion ORPHA:3079
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Impaired mastication, Micrognathia OMIM:617258
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Thrombocyt... OMIM:601399
Takenouchi-Kosaki Syndrome
Short philtrum, Long philtrum, Patent ductus arteriosus, Widely spaced teeth, Smooth philtrum, Th... OMIM:616737
Short Syndrome
Delayed eruption of teeth, Hypodontia, Micrognathia, Dental malocclusion, Downturned corners of m... OMIM:269880
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Thrombocytopenia OMIM:618048
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Thick lower lip vermilion, Microretrognathia, Anterior ... OMIM:123450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia ORPHA:79312
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Pierre-Robin sequence, High palate, Short philtrum, Agenesis of permanent teeth, Lo... ORPHA:251028
Gaucher Disease, Type Iii
Pancytopenia, Decreased body weight, Thrombocytopenia, Splenomegaly OMIM:231000
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Cleft palate OMIM:608545
Aicardi-Goutieres Syndrome 7
Dystonia, Thrombocytopenia, Splenomegaly OMIM:615846
Frontometaphyseal Dysplasia 1
High palate, Delayed eruption of teeth, Antegonial notching of mandible, Selective tooth agenesis... OMIM:305620
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Seckel Syndrome 1
High palate, Enamel hypoplasia, Micrognathia, Selective tooth agenesis, Dental crowding, Dental m... OMIM:210600
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia OMIM:614727
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Malar flattening, Mandibular prognathia, Dental m... OMIM:269500
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Absent circulating B cells OMIM:619693
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Hypodontia, Micrognathia, Neoplasm, Selective tooth agenesis, Fragile teeth, Dental ... ORPHA:2959
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Malar flattening, Micrognathia OMIM:608257
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Anemia, Failure to thrive, Thrombocytopenia OMIM:619151
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Dystonia, Thrombocytopenia ORPHA:289916
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Phelan-Mcdermid Syndrome
High palate, Long philtrum, Patent ductus arteriosus, Widely spaced teeth, Micrognathia, Malar fl... OMIM:606232
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Sengers Syndrome
Thrombocytopenia OMIM:212350
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Harrod Syndrome
Narrow mouth, High palate, Dental malocclusion, High, narrow palate OMIM:601095
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hallermann-Streiff Syndrome
Narrow mouth, High palate, Chorioretinal coloboma, Thin vermilion border, Everted lower lip vermi... OMIM:234100
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia,... ORPHA:507
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia OMIM:613839
Cardiofaciocutaneous Syndrome 1
High palate, Open bite, Open mouth, Deep philtrum, Optic nerve dysplasia, Micrognathia, Cavernous... OMIM:115150
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Long philtrum, Patent ductus arteriosus, Bifid tongue, Micrognathia,... OMIM:616894
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, Failure to thrive, B lymphocytopeni... OMIM:603554
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Cachexia, T... ORPHA:824
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Gaucher Disease, Type Ii
Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:230900
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Failure to thrive in infancy ORPHA:858
Harrod Syndrome
Narrow mouth, High palate, Dental malocclusion ORPHA:2115
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Dental malocclusion, Carious teeth OMIM:615560
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Failure to thrive, Thrombocyt... ORPHA:229717
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia, Reduced natural killer c... OMIM:616050
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Hamamy Syndrome
High palate, Long philtrum, Hypodontia, Micrognathia, Smooth philtrum, Dental malocclusion, Wide ... OMIM:611174
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Retrognathia OMIM:601552
Van Maldergem Syndrome 2
High palate, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Malar flattenin... OMIM:615546
Osteopathia Striata With Cranial Sclerosis
Pierre-Robin sequence, High palate, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Crani... OMIM:300373
7Q11.23 Microduplication Syndrome
High palate, Short philtrum, Dental malocclusion, Drooling, Patent ductus arteriosus, Micrognathi... ORPHA:96121
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Specific Granule Deficiency 2
Neutropenia, Anemia, Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia OMIM:617475
Van Maldergem Syndrome 1
High palate, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Malar flattenin... OMIM:601390
Kabuki Syndrome 2
High palate, Lower lip pit, Hypodontia, Micrognathia, Natal tooth, Dental malocclusion, Cleft palate OMIM:300867
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Familial Adenomatous Polyposis 1
Hepatoblastoma, Colon cancer, Adrenocortical carcinoma, Osteoma, Adenomatous colonic polyposis, D... OMIM:175100
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Hypodontia, Hypoplasia of the maxilla, Mandibular prognathia, Dental m... OMIM:101800
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Preeclampsia
Thrombocytopenia, Small for gestational age ORPHA:275555
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Long philtrum, Tented upper lip vermilion, Mandibular prognathia, Smooth philtrum, D... OMIM:618975
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Retinal neovascularization, Cleft palate, Micrognathia OMIM:619074
Turnpenny-Fry Syndrome
Narrow mouth, High palate, Drooling, Patent ductus arteriosus, Abnormality of the dentition, Micr... OMIM:618371
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Babesiosis
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Failure to thrive, Hyposegmentation of ... OMIM:169400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Elsahy-Waters Syndrome
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Hy... OMIM:211380
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Short philtrum, Long philtrum, Patent ductus arteriosus, Widely spaced teeth, Tented upper lip ve... ORPHA:487796
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Hypochromic microcytic anemia, Thrombocytopenia, Head titubation ORPHA:3240
Lig4 Syndrome
Pancytopenia, Failure to thrive, Thrombocytopenia OMIM:606593
Rhabdoid Tumor
Anemia, Thrombocytopenia, Weight loss ORPHA:69077
Noonan Syndrome 4
Wide mouth, Dental malocclusion, Thick vermilion border OMIM:610733
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Holoprosencephaly 9
Short philtrum, Dental malocclusion, Solitary median maxillary central incisor, Cleft upper lip, ... OMIM:610829
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Craniofaciofrontodigital Syndrome
Abnormality of the dentition, Dental malocclusion, Long philtrum OMIM:114620
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopenia OMIM:150550
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Martin-Probst Syndrome
Thick lower lip vermilion, Micrognathia, Malar flattening, Dental malocclusion, Wide mouth OMIM:300519
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Tremor OMIM:251100
Localized Scleroderma
Short dental root, Abnormality of upper lip, Abnormality of the dentition, Dental malocclusion, A... ORPHA:90289
Cockayne Syndrome A
Enamel hypoplasia, Carious teeth, Hypoplasia of teeth, Delayed eruption of primary teeth, Pigment... OMIM:216400
Hajdu-Cheney Syndrome
High palate, Long philtrum, Patent ductus arteriosus, Micrognathia, Absent frontal sinuses, Prema... OMIM:102500
Robinow Syndrome
Broad alveolar ridges, Long philtrum, Hypodontia, Bifid tongue, Micrognathia, Dental crowding, Ma... ORPHA:97360
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Optic nerve compression OMIM:259730
Propionic Acidemia
Pancytopenia, Dystonia, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia OMIM:606054
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Abnormali... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Abnormali... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Thrombocytopenia OMIM:608104
Oliver Syndrome
Short philtrum, High palate, Dental malocclusion, Mandibular prognathia ORPHA:2920
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Spondyloenchondrodysplasia
Dental malocclusion, Enchondroma, Delayed eruption of teeth ORPHA:1855
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Cerebellar-Facial-Dental Syndrome
Long philtrum, Micrognathia, Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodo... ORPHA:444072
Cockayne Syndrome
Agenesis of permanent teeth, Retinal degeneration, Retinal hemorrhage, Enamel hypoplasia, Abnorma... ORPHA:191
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia ORPHA:158029
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Microphthalmia, Syndromic 2
Bifid uvula, Fused teeth, Long philtrum, Patent ductus arteriosus, Delayed eruption of teeth, Rad... OMIM:300166
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia, Failure to thrive in infancy OMIM:611209
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Failure to thrive, Aplastic anemia, Thrombocytopenia OMIM:613989
Mccune-Albright Syndrome
Breast carcinoma, Benign gastrointestinal tract tumors, Cutaneous myxoma, Dental malocclusion, He... ORPHA:562
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Neutrophilia, Failure to thrive, Thrombocytopenia OMIM:619644
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia OMIM:614520
Schwartz-Jampel Syndrome
Narrow mouth, High palate, Dental malocclusion, Long philtrum, Trismus, Everted lower lip vermili... ORPHA:800
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Tremor OMIM:274150
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Dental malocclusion, Cle... OMIM:603457
Neonatal Lupus Erythematosus
Pancytopenia, Splenomegaly, Neutropenia, Anemia, Hemolytic anemia, Aplastic anemia, Thrombocytopenia ORPHA:398124
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Tremor OMIM:222300
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Retinopathy, Patent ductus arteriosus, Hypodontia, Carious teeth, Supernumerary tooth, Spinal cor... ORPHA:353281
Nestor-Guillermo Progeria Syndrome
Micrognathia, Dental crowding, Microretrognathia, Mandibular osteolysis, Dental malocclusion, Thi... OMIM:614008
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Abnormality of thrombocytes OMIM:187900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Lymphopenia, Hypop... OMIM:612541
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Malar flattening, Mandibular prognathia, Dental malocclus... OMIM:101200
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate OMIM:182212
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Small for gestational age, Splenomegaly, Anemia, Failure to thr... OMIM:606003
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Cockayne Syndrome B
Carious teeth, Hypoplasia of teeth, Delayed eruption of primary teeth, Pigmentary retinopathy, Ma... OMIM:133540
Wilson Disease
Splenomegaly, Anemia, Failure to thrive, Increased body weight, Thrombocytopenia, Weight loss ORPHA:905
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Impai... OMIM:214500
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Weight loss ORPHA:47
Faciocardiomelic Syndrome
Long philtrum, Micrognathia, Hyperplasia of the maxilla, Dental malocclusion, Wide mouth OMIM:612731
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Failure to thrive, Thrombocytopenia OMIM:251000
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Failure to thrive, Thrombocytopenia OMIM:613845
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia OMIM:251110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mouth OMIM:227330
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Frank-Ter Haar Syndrome
Broad alveolar ridges, High palate, Micrognathia, Thin upper lip vermilion, Dental malocclusion, ... OMIM:249420
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia, Weight loss ORPHA:520
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy ORPHA:263501
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Weight loss ORPHA:79242
Pseudo-Torch Syndrome 1
Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly OMIM:251290
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Weight loss ORPHA:47612
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Weight loss ORPHA:90060
Rubinstein-Taybi Syndrome 1
Narrow mouth, High palate, Papillary cystadenoma of the epididymis, Leukemia, Patent ductus arter... OMIM:180849
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:277380
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Conical incisor, Dental maloc... ORPHA:73223
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Abnormality of dental eruption, Absent ethmoidal sinuses,... OMIM:211910
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Failure to thrive, Bone-marrow foam cells, ... OMIM:278000
Prolidase Deficiency
Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:170100
Griscelli Syndrome
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:381
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:614576
Pediatric-Onset Graves Disease
Splenomegaly, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Thrombocyt... ORPHA:525731
Osteogenesis Imperfecta
Dental malocclusion, Visceral angiomatosis, Delayed eruption of teeth, Carious teeth, Micrognathi... ORPHA:666
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Neutropenia, Anemia, Failure to ... OMIM:260400
Smith-Kingsmore Syndrome
Large for gestational age, Thrombocytopenia OMIM:616638
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Fail... ORPHA:79124
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Alg8-Cdg
Anemia, Failure to thrive, Thrombocytopenia, Small for gestational age ORPHA:79325
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:600901
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:227650
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia, Small for gestational age ORPHA:391673
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Failure... ORPHA:1830
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:64743
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Failure to thrive in infancy, Fl... OMIM:610377
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Failure to ... OMIM:603553
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Neutropenia, Failure to thrive, Hemolytic anemia, Thrombocytopenia OMIM:308230
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Patent ductus arteriosus, Hypodontia, Carious teeth, Supernumerary tooth, Micrognath... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Patent ductus arteriosus, Hypodontia, Carious teeth, Supernumerary tooth, Micrognath... ORPHA:353277
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:267700
Cyclic Neutropenia
Cyclic neutropenia, Lymphopenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Focal Dermal Hypoplasia
Chorioretinal coloboma, Cleft upper lip, Delayed eruption of teeth, Enamel hypoplasia, Optic atro... OMIM:305600
Coffin-Lowry Syndrome
High palate, Open mouth, Hypodontia, Everted lower lip vermilion, Widely spaced teeth, Mandibular... OMIM:303600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Noonan Syndrome 1
High palate, Patent ductus arteriosus, Neurofibrosarcoma, High, narrow palate, Micrognathia, Juve... OMIM:163950
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Anemia, Failure to thrive, Lymphopenia OMIM:617591
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Failure to thrive, Thrombocytopenia ORPHA:3322
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia, Small for gestational age OMIM:618775
Williams Syndrome
Long philtrum, Patent ductus arteriosus, Open bite, Retinal arteriolar tortuosity, Hypodontia, Ca... ORPHA:904
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Small fo... OMIM:557000
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Gaucher Disease, Perinatal Lethal
Decreased body weight, Opisthotonus, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:608013
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Patent ductus arteriosus, Malar flattening, Retrognathia, Dental malocc... ORPHA:284984
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Thrombocytopenia, Limb dystonia, Tremor ORPHA:572798
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Tremor OMIM:277400
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:227645
Aicardi-Goutieres Syndrome 1
Dystonia, Thrombocytopenia, Splenomegaly OMIM:225750
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Small for gestational age OMIM:301056
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphopenia ORPHA:508542
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Anemia, Hypochromic microcytic anemia, Thrombocytopenia... OMIM:259720
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal platelet function, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sepsis In Premature Infants
Decreased body weight, Leukocytosis, Small for gestational age, Splenomegaly, Neutropenia, Anemia... ORPHA:90051
Shwachman-Diamond Syndrome 2
Neutropenia, Failure to thrive, Thrombocytopenia, Normocytic anemia OMIM:617941
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukem... ORPHA:124
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Submucous cleft lip, Hepatoblastoma, Patent ductus arteriosus, ... OMIM:312870
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Adams-Oliver Syndrome
Leukopenia, Failure to thrive, Thrombocytopenia ORPHA:974
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Fanconi Anemia, Complementation Group F
Leukopenia, Anemia, Failure to thrive, Thrombocytopenia OMIM:603467
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Thrombocytopenia ORPHA:99901
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Fraser Syndrome 1
Cleft upper lip, Dental crowding, Dental malocclusion, Cleft palate, Difficulty in tongue movements OMIM:219000
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Hemolytic anemia, Microangiopathic hemolytic... ORPHA:244242
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691
Fraser Syndrome
High palate, Cleft upper lip, Dental crowding, Oral cleft, Dental malocclusion, Bifid tongue ORPHA:2052
Lathosterolosis
Failure to thrive, Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, Limb dystonia ORPHA:457351
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Dystonia, Thrombocytopenia, Tremor OMIM:612199
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Monosomy 22Q13.3
Dental crowding, Dental malocclusion, Malar flattening ORPHA:48652
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Resting tremor, Thrombocytopenia, Lymphopenia ORPHA:319213
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Farber Disease
Hepatosplenomegaly, Anemia, Failure to thrive, Thrombocytopenia ORPHA:333
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:227646
Loeys-Dietz Syndrome 3
High palate, Bifid uvula, Patent ductus arteriosus, Malar flattening, Retrognathia, Dental malocc... OMIM:613795
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia, Failure to thrive in infancy ORPHA:261323
Mogs-Cdg
Hepatosplenomegaly, Dystonia, Thrombocytopenia ORPHA:79330
Ivic Syndrome