Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 7.21×10-05
decreased circulating calcium level Peak1em1(IMPC)J HOM Early adult 1.36×10-05
decreased blood urea nitrogen level Peak1em1(IMPC)J HOM   Early adult 6.95×10-05
increased lean body mass Peak1em1(IMPC)J HOM Early adult 7.63×10-07
abnormal cholesterol homeostasis Peak1em1(IMPC)J HOM Early adult 5.23×10-11
decreased circulating cholesterol level Peak1em1(IMPC)J HOM Early adult 2.80×10-08
increased startle reflex Peak1em1(IMPC)J HOM Early adult 8.77×10-10
decreased circulating total protein level Peak1em1(IMPC)J HOM Early adult 2.90×10-06
decreased circulating HDL cholesterol level Peak1em1(IMPC)J HOM Early adult 4.10×10-10
decreased circulating serum albumin level Peak1em1(IMPC)J HOM   Early adult 1.58×10-05

Download data as:  TSV  XLS

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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.

Electrocardiogram (ECG)

Waveform Image

17 Images

Combined SHIRPA and Dysmorphology


4 Images


XRay Images Forepaw

8 Images


XRay Images Skull Dorso Ventral Orientation

8 Images


XRay Images Whole Body Lateral Orientation

8 Images


XRay Images Whole Body Dorso Ventral

8 Images


XRay Images Skull Lateral 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
Matching phenotypes Source
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Primary Condylar Hyperplasia
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Widely spaced teeth, Dental malocclusion, Bone spicule pigmentation of the reti... OMIM:616108
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... OMIM:267700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Intention tremor, Thrombocytopenia, Hypersplenism, Hypocholesterolemia, Splenomegaly OMIM:610539
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Ma... ORPHA:398063
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Congenital Analbuminemia
Hypoproteinemia, Small for gestational age, Obesity, Hyperlipidemia, Increased alpha-globulin, Hy... ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Nephrotic Syndrome, Type 1
Hyperlipidemia, Small for gestational age, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... OMIM:603553
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Reduced natural killer cell co... OMIM:241600
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia, Dyst... OMIM:616267
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to thrive, Hypoalbu... OMIM:613752
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Auriculocondylar Syndrome 2
Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crowding, Narrow m... OMIM:614669
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Abnormality of thrombocytes, Failure to thrive ORPHA:172
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Anemia, Hypoalbuminemia OMIM:603278
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Citrullinemia Type Ii
Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Elevated plasma citrulline, Hyp... ORPHA:247585
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Elevated circulat... OMIM:616050
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Choreoathetosis, Postural tremor, Elevated ... ORPHA:64753
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Failure to thrive, E... OMIM:603554
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Failure to thrive, Eosinophilia, Thrombocytopenia, Monocytopeni... OMIM:226990
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Anemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Hypoalbuminemia, Thrombocytosis, Splenom... OMIM:209950
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Short mandibular rami, Delayed eruption of teeth OMIM:141300
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Hypoalbuminem... ORPHA:507
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Leukopenia ORPHA:99828
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... OMIM:208920
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Auriculocondylar Syndrome 1
Micrognathia, Cleft palate, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental mal... OMIM:602483
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... OMIM:607616
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... OMIM:308240
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hyperammonemia, Overweight, Elevated circulating crea... ORPHA:26793
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... ORPHA:158061
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive ORPHA:163693
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Diastema, Malar flattening, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion... ORPHA:436245
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion OMIM:618292
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... OMIM:603552
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased LDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Steatorrhea, Eosinophilia, Elevated circulating C-reactive protein concentr... ORPHA:2070
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification OMIM:125420
Mcdonough Syndrome
Abnormal palate morphology, Mandibular prognathia, Dental malocclusion, Short philtrum, Micrognat... ORPHA:2471
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion ORPHA:1858
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia OMIM:608093
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volum... OMIM:617021
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Mulibrey Nanism
Hypoplastic frontal sinuses, Pigmentary retinopathy, Enamel hypoplasia, Absent frontal sinuses, D... OMIM:253250
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Rubinstein-Taybi Syndrome 2
High palate, Retrognathia, Talon cusp, Narrow palate, Dental malocclusion, Carious teeth, Microgn... OMIM:613684
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Intermediate Osteopetrosis
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:210110
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hypoproteinemia, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet ... ORPHA:167
Decreased LDL cholesterol concentration, Failure to thrive, Hypoalbuminemia ORPHA:79320
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... OMIM:613101
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Oligodontia, Optic neuropathy, Jaw swelling, Multiple impacted teeth, Narrow palate, Dental maloc... OMIM:118400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Hypercalcemia ORPHA:55881
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany ORPHA:36913
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Dental malocclusion, Velopharyngeal insufficiency, Carious teeth, Patent ductus art... OMIM:613680
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Craniosynostosis 3
Dental malocclusion OMIM:615314
X-Linked Agammaglobulinemia
Anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Hypocalcemia, Weight loss ORPHA:47
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoa... OMIM:608104
Macroglossia, Craniofacial hyperostosis, Widely spaced teeth, Mandibular prognathia, Narrow palat... ORPHA:61
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer cell co... ORPHA:158048
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia, Failure to thrive ORPHA:2315
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Anemia, Elevated circulating creatine kinase concentration, Failur... OMIM:615895
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly OMIM:235255
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia, Failure to th... OMIM:266510
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... ORPHA:86839
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Thin upper lip vermilion, Incisor macrodontia, Widely-spaced maxillary centr... OMIM:619719
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Amelogenesis Imperfecta, Type If
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Splenomegaly OMIM:607765
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Failure to thrive, Increased serum bile acid concentr... OMIM:242150
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... ORPHA:540
Osteopetrosis, Autosomal Recessive 1
Anemia, Failure to thrive, Thrombocytopenia, Pancytopenia, Hypocalcemia, Splenomegaly OMIM:259700
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Dentinogenesis Imperfecta
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... ORPHA:49042
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Hypocholesterolemia ORPHA:71
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly ORPHA:1655
Potocki-Lupski Syndrome
High palate, Mandibular prognathia, Dental crowding, Dental malocclusion, Smooth philtrum, Microg... OMIM:610883
Lessel-Kreienkamp Syndrome
Open mouth, Thin upper lip vermilion, Dental malocclusion, Patent ductus arteriosus OMIM:619149
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth OMIM:104510
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... ORPHA:292
Auriculocondylar Syndrome
Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint, Cleft pa... ORPHA:137888
Hypoalbuminemia ORPHA:79327
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Intention tremor, Thrombocytopenia, Normochromic anemia, Action tremor, Hypoalbu... OMIM:254900
Rhabdoid Tumor
Thrombocytopenia, Anemia, Hypercalcemia, Weight loss ORPHA:69077
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Elevated circulating methy... OMIM:618156
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive OMIM:606407
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, High palate, Mandibular prognathia, Narrow mouth, Downturned corn... ORPHA:1327
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Microdontia, Enamel hypoplasia, Dental malocclusion, Short philtrum, Patent ... OMIM:619293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly ORPHA:231393
Otodental Syndrome
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... ORPHA:2791
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Failure to thrive, Hypoalbuminemia ORPHA:79319
Momo Syndrome
High palate, Taurodontia, Dental malocclusion, Long philtrum, Smooth philtrum, Delayed eruption o... OMIM:157980
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Wolcott-Rallison Syndrome
Hyperammonemia, Neutropenia, Hyperbilirubinemia, Lymphocytosis, Iron deficiency anemia, Decreased... ORPHA:1667
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia, Choreoathetosis, Dysto... ORPHA:79312
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Oculogyric crisis, Hyperphosphatemia, Elevated circulating creatine ... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Failure to thrive, Hypoalbuminemia OMIM:602579
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration, Failure to thrive OMIM:614727
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Leukopenia, Anemia, Increased blood urea nitrogen, Failure to thrive, Thrombocytop... OMIM:613845
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Fanconi Anemia, Complementation Group S
Breast carcinoma, Ovarian carcinoma, Macrodontia, Narrow palate, Dental malocclusion, Thick upper... OMIM:617883
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Retrognathia, Dental malocclusion, Smooth philtrum, Carious teeth, ... ORPHA:363444
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... ORPHA:454836
Gaisböck Syndrome
Increased red blood cell count, Overweight, Increased circulating renin level, Hyperuricemia, Inc... ORPHA:90041
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Thrombocytopenia, Choreoathetosis, Dystonia, Neutropenia ORPHA:289916
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Failure to thrive, Tremor, Intention tremor, Thrombocytosis, Hypocholesterolemia, Hy... OMIM:212065
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Abnormality of dental color, Abnorm... ORPHA:1873
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Dystonia, Anemia OMIM:619302
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Failure to thrive... OMIM:620085
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Oligodontia, Malar flattening, Persistence of primary teeth, Microdontia, Enamel h... OMIM:618727
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Celiac Disease, Susceptibility To, 1
Steatorrhea, Macrocytic anemia, Failure to thrive, Hypocalcemia, Thrombocytosis, Iron deficiency ... OMIM:212750
Oculodentodigital Dysplasia, Autosomal Recessive
Hypoplasia of teeth, Dental crowding, Narrow mouth, Hypoplasia of the primary teeth, Long philtru... OMIM:257850
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abetalipoproteinemia, E... ORPHA:96180
Acrootoocular Syndrome
Grayish enamel, Anodontia, High, narrow palate, Dental malocclusion, Supernumerary tooth, Delayed... ORPHA:2980
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:264700
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Athetosis, Failure to thrive, Thrombocytopeni... OMIM:229050
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Dystonia OMIM:610329
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hyperbilirubinemia, Thro... OMIM:251880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia OMIM:612350
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Leukocytosis, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia, Failure to thrive OMIM:602361
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Thrombocytopenia, Splenomegaly, Dystonia OMIM:615010
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Weight loss ORPHA:517
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... ORPHA:231111
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportio... OMIM:613011
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb... ORPHA:36234
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Reticulocytosis, Anemia, Steatorrhea, Decreased LDL cholesterol concentration, Acanthocytosis, Fa... ORPHA:14
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Failure to thrive, Thrombocytopenia, Splenomega... OMIM:615285
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... ORPHA:94089
Oculoskeletodental Syndrome
Small for gestational age, Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Failure to thrive in infancy, Hypercalcemia, Anemia ORPHA:436
Muenke Syndrome
Malar flattening, High palate, Dental malocclusion OMIM:602849
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hyperammonemia, Conjugated hyperbilirubinemia, Failure to thrive, Decr... OMIM:617093
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Malar flattening, Everted lower lip vermilion, Dental malocclusion,... ORPHA:85321
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... OMIM:259720
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Timothy Syndrome
Hypocalcemia OMIM:601005
Momo Syndrome
High palate, Taurodontia, Dental malocclusion, Long philtrum, Smooth philtrum, Chorioretinal colo... ORPHA:2563
Robinow Syndrome, Autosomal Dominant 2
Oligodontia, Abnormality of the dentition, Calvarial osteosclerosis, Cleft palate, Dental crowdin... OMIM:616331
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis, Decreased serum creatinine ORPHA:54057
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Dental malocclusion, Cone/cone-rod dystrophy OMIM:608940
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Failure to thrive, Hypoalbuminemia ORPHA:367
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
High palate, Abnormality of the dentition, Persistence of primary teeth, Delayed eruption of perm... ORPHA:763
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia, Choreoathetosis ORPHA:27
Zimmermann-Laband Syndrome
Macroglossia, High palate, Bifid uvula, Gingival fibromatosis, Micrognathia, Cleft palate, Supern... ORPHA:3473
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... ORPHA:40923
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia OMIM:617303
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Hepatocellular Carcinoma
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Weight loss, Thrombocytopenia, Thrombocyto... ORPHA:88673
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Dental malocclusion, Micrognathia, Optic atrophy, Thin upper lip verm... ORPHA:329178
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Multiple Myeloma
Anemia, Hyperproteinemia, Elevated circulating creatinine concentration, Splenomegaly, Hypercalce... ORPHA:29073
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... ORPHA:101028
Small for gestational age, Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Wilson Disease
Limb dystonia, Hand tremor, Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper ... OMIM:277900
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Hepatosplenomegaly, Failure to thrive in infancy, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Amoebiasis Due To Entamoeba Histolytica
Anemia, Leukocytosis, Weight loss, Hypoalbuminemia ORPHA:67
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hemolytic anemia, Anemia, Failure to thrive, Hypoalbuminemia, Dystonia, Weigh... OMIM:619487
Trichorhinophalangeal Syndrome, Type I
Deep philtrum, Microdontia, Narrow palate, Long philtrum, Delayed eruption of teeth, Carious teet... OMIM:190350
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Anemia, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Three M Syndrome 2
High palate, Malar flattening, Dental malocclusion, Long philtrum, Delayed eruption of teeth, Thi... OMIM:612921
Failure to thrive, Thrombocytopenia, B lymphocytopenia, Hypocholesterolemia, Hyponatremia, Hypoal... ORPHA:79324
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Thrombocytopenia, Hypochromic microcytic anemia, Increased... ORPHA:3240
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Abnormal circulating selenium concentration, Failure to thrive, Dec... ORPHA:89842
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Intellectual Disability, Buenos-Aires Type
High palate, Mandibular prognathia, Abnormality of dental morphology, Dental malocclusion, Open bite ORPHA:3079
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Micrognathia OMIM:617258
Takenouchi-Kosaki Syndrome
Widely spaced teeth, Downturned corners of mouth, Long philtrum, Smooth philtrum, Dental malocclu... OMIM:616737
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Tremor, Thromb... OMIM:274150
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... ORPHA:848
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypocalcemia, Failure to thrive OMIM:607143
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Everted lower lip vermilion, Dental crowding, Long philtrum, Anterior open-bite malo... OMIM:617877
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Failure to thrive, Hypoalbuminemia OMIM:615508
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... ORPHA:79444
Larsen-Like Syndrome
Malar flattening, Dental malocclusion, Cleft palate OMIM:608545
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Cri-Du-Chat Syndrome
High palate, Bifid uvula, Microretrognathia, Downturned corners of mouth, Anterior open-bite malo... OMIM:123450
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Failure to thrive, Thrombocytope... OMIM:618048
Seckel Syndrome 1
High palate, Selective tooth agenesis, Enamel hypoplasia, Cleft palate, Dental crowding, Dental m... OMIM:210600
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Micrognathia OMIM:608257
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Trichohepatoenteric Syndrome 1
Small for gestational age, Hypermethioninemia, Failure to thrive, Increased serum iron, Increased... OMIM:222470
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Abnormality of the dentition, Agenesis of permanent teeth, Microdontia, Cleft palate... ORPHA:251028
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Leukopenia, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Pearson Syndrome
Small for gestational age, Hypophosphatemia, Reticulocytosis, Hypoplastic spleen, Anemia, Steator... ORPHA:699
Pseudohypoparathyroidism Type 1A
Abnormal platelet function, Choreoathetosis, Hypocalcemic seizures, Hyperphosphatemia, Laryngeal ... ORPHA:79443
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm, Selective tooth agenesis, Fragile teeth, Bifid uvula, Neoplasm of the pancreas, Dental ... ORPHA:2959
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Failure to thrive, Elevated circulating creatine kinase concentration,... OMIM:619055
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Howell-Jolly bodies, Weig... ORPHA:85443
Non-Functioning Paraganglioma
Tremor, Hypercalcemia, Weight loss ORPHA:94080
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Sclerosteosis 1
Tooth malposition, Malar flattening, Papilledema, Facial palsy secondary to cranial hyperostosis,... OMIM:269500
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Failure to thrive, Hypocalcemia, Hypoc... ORPHA:411634
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Writer's cramp, Hypomagnesemia ORPHA:428
Propionic Acidemia
Hyperammonemia, Anemia, Failure to thrive, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Dysto... OMIM:606054
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia OMIM:618329
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Failure to thrive, Hyperhomocystinemia, Thrombocytopenia, Hypomethioninem... OMIM:614857
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hallermann-Streiff Syndrome
High palate, Selective tooth agenesis, Malar flattening, Everted lower lip vermilion, High, narro... OMIM:234100
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Failure to thrive, Hyperbili... OMIM:617156
Phelan-Mcdermid Syndrome
High palate, Malar flattening, Widely spaced teeth, Dental malocclusion, Long philtrum, Patent du... OMIM:606232
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Short Syndrome
Downturned corners of mouth, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Microgna... OMIM:269880
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion OMIM:310400
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Failure to thrive, Thrombocytopenia, Elevated circulating C... OMIM:619644
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly, Dystonia OMIM:610333
Glucose-Galactose Malabsorption
Weight loss, Hypernatremia, Hypercalcemia, Failure to thrive ORPHA:35710
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen, Obesity ORPHA:251004
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Cleft lip, Micrognathia, Cleft palate, Downturned corners of mouth, ... OMIM:616894
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... OMIM:207750
Xfe Progeroid Syndrome
Cachexia, Failure to thrive, Hypoalbuminemia OMIM:610965
Osteopetrosis With Renal Tubular Acidosis
Elliptocytosis, Leukopenia, Anemia, Elevated circulating creatine kinase concentration, Failure t... ORPHA:2785
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Hamamy Syndrome
High palate, Enamel hypoplasia, Everted lower lip vermilion, Dental malocclusion, Long philtrum, ... OMIM:611174
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Cardiofaciocutaneous Syndrome 1
Open mouth, Abnormality of the dentition, High palate, Cavernous hemangioma, Deep philtrum, Submu... OMIM:115150
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Harrod Syndrome
Narrow mouth, High palate, Dental malocclusion ORPHA:2115
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Failure to thrive OMIM:616740
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Failure to thrive ORPHA:67048
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Failure to thrive, Thrombocytopenia, Hypergly... OMIM:251000
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Kabuki Syndrome 2
High palate, Cleft palate, Dental malocclusion, Hypodontia, Natal tooth, Micrognathia, Lower lip pit OMIM:300867
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Van Maldergem Syndrome 1
High palate, Irregular dentition, Malar flattening, Tented upper lip vermilion, Downturned corner... OMIM:601390
Elsahy-Waters Syndrome
High palate, Bifid uvula, Malar flattening, Broad philtrum, Mandibular prognathia, Multiple impac... OMIM:211380
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Anemia, Failure to thrive, Splenomegaly, Calcinosis OMIM:239200
Osteopathia Striata With Cranial Sclerosis
Craniofacial osteosclerosis, High palate, Bifid uvula, Paranasal sinus hypoplasia, Micrognathia, ... OMIM:300373
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Failure to thrive, Thrombocytopenia, Pancytopenia... OMIM:251110
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Failure to thrive OMIM:241500
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... OMIM:231200
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Obesity OMIM:103580
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Congenital Myopathy 17
High palate, Mandibular prognathia, Narrow jaw, Cleft palate, Tented upper lip vermilion, Dental ... OMIM:618975
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Failure to thrive, Tremor, Thrombocytopenia, Panc... OMIM:251100
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hyperk... ORPHA:199299
Barber-Say Syndrome
High palate, Widely spaced teeth, Mandibular prognathia, Micrognathia, Dental malocclusion, Thin ... OMIM:209885
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia OMIM:194350
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Slender build, Anemia, Failure to thrive, Unconjugated hyperbilirubine... OMIM:613658
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:163979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypoalbuminemia ORPHA:505248
Frontometaphyseal Dysplasia 1
High palate, Antegonial notching of mandible, Selective tooth agenesis, Persistence of primary te... OMIM:305620
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, High palate, Diastema, Retrognathia, Short lingual frenulum, Dent... ORPHA:96121
Galloway-Mowat Syndrome 1
Small for gestational age, Dystonia, Hypoalbuminemia OMIM:251300
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Optic atrophy,... OMIM:101800
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Weight loss ORPHA:79242
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Thick vermilion border OMIM:610733
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Van Maldergem Syndrome 2
High palate, Irregular dentition, Malar flattening, Tented upper lip vermilion, Downturned corner... OMIM:615546
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Congenital hypertrophy of retinal pigment epithelium, Astrocyt... OMIM:175100
Pierson Syndrome
Hypoproteinemia OMIM:609049
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Congenital Toxoplasmosis
Failure to thrive in infancy, Thrombocytopenia, Anemia ORPHA:858
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... ORPHA:466650
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Gaucher Disease, Type Iii
Thrombocytopenia, Decreased body weight, Pancytopenia, Splenomegaly OMIM:231000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Widely spaced teeth, Tented upper lip vermilion, Downturned corners of mouth, Long philtrum, Smoo... ORPHA:487796
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Failure to thrive, Hypoalbuminemia ORPHA:79396
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hyperammonemia, Reticulocytosis, Leukopenia, Abnormal lymp... ORPHA:99826
Holoprosencephaly 9
Bilateral cleft lip and palate, Short hard palate, Malar flattening, Solitary median maxillary ce... OMIM:610829
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Hyperkalemia, Thrombocytopenia, Hypocalcemia, Hyponatremia ORPHA:544482
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia OMIM:616435
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Congenital thrombocytopenia, Leukocytosis, Anemia OMIM:618886
Acyl-Coa Dehydrogenase 9 Deficiency
Hyperammonemia, Elevated circulating acylcarnitine concentration, Failure to thrive, Thrombocytop... ORPHA:99901
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Hypocalcemia, Failure to thrive ORPHA:175
Cleft Palate, Proliferative Retinopathy, And Developmental Delay