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Gene: Peak1 MGI:2442366

Gene Summary

Name:

pseudopodium-enriched atypical kinase 1

Synonyms:

C230081A13Rik, 1110049L02Rik, NKF3 kinase family member

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased lean body mass	Peak1^em1(IMPC)J	HOM	Early adult	7.63×10^-07
abnormal cholesterol homeostasis	Peak1^em1(IMPC)J	HOM	Early adult	5.26×10^-11
increased startle reflex	Peak1^em1(IMPC)J	HOM	Early adult	7.96×10^-10
decreased circulating serum albumin level	Peak1^em1(IMPC)J	HOM	Early adult	2.11×10^-05
decreased circulating total protein level	Peak1^em1(IMPC)J	HOM	Early adult	2.90×10^-06
decreased circulating calcium level	Peak1^em1(IMPC)J	HOM	Early adult	1.36×10^-05
decreased circulating cholesterol level	Peak1^em1(IMPC)J	HOM	Early adult	2.65×10^-08
decreased blood urea nitrogen level	Peak1^em1(IMPC)J	HOM	Early adult	6.95×10^-05
thrombocytopenia	Peak1^em1(IMPC)J	HOM	Early adult	7.17×10^-05
decreased circulating HDL cholesterol level	Peak1^em1(IMPC)J	HOM	Early adult	5.81×10^-10

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Electroretinography 3

Fundus file

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Electrocardiogram (ECG)

Waveform Image

17 Images

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Auditory Brain Stem Response

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

6 Images

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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.

Human diseases associated with Peak1 (0 diseases)
Human diseases predicted to be associated with Peak1 (885 diseases)

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	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D...	OMIM:616108
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor	OMIM:610539
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch...	OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Failure to thrive, Abnormality of thrombocytes, Hypocalcemia	ORPHA:172
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased...	OMIM:616050
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane...	OMIM:209950
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94090
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma...	ORPHA:436245
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Dental malocclusion	OMIM:618292
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal...	ORPHA:2471
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Hypoproteinemia	OMIM:608093
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Microglossia, Dental malocc...	OMIM:253250
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Alg6-Cdg	Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Tremor, Increase...	ORPHA:167
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Cherubism	Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar...	OMIM:118400
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures	ORPHA:36913
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Adamantinoma	Hypercalcemia	ORPHA:55881
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Patent ductus arteriosus, Velopharyngeal insufficiency, Dental maloc...	OMIM:613680
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb...	OMIM:608104
X-Linked Agammaglobulinemia	Weight loss, Anemia, Hypocalcemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:47
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr...	ORPHA:61
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Johanson-Blizzard Syndrome	Failure to thrive, Hypoproteinemia, Anemia	ORPHA:2315
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive...	OMIM:615895
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol...	OMIM:266510
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat...	OMIM:610883
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Failure to thrive	OMIM:607765
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Patent ductus arteriosus, Dental malocclusion, Open mouth	OMIM:619149
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia	ORPHA:71
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly	ORPHA:1655
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Intention...	OMIM:254900
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:612462
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia	OMIM:606407
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest...	OMIM:618156
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Patent ductus arteriosus, Dental malocclusion,...	OMIM:619293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk...	ORPHA:94093
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Neutropenia, Failure t...	ORPHA:79312
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Steatorrhea	OMIM:602579
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Thrombocytopenia, Increased blood urea nitrogen, Leukopenia, Hyperuri...	OMIM:613845
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Breast carcinoma, Ovarian neoplasm, Narrow palate, Ovarian carc...	OMIM:617883
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Patent ductus arteriosus, ...	ORPHA:363444
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Neutropenia, Anemia	ORPHA:289916
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Congenital Disorder Of Glycosylation, Type Ia	Tremor, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Failure to thrive, Hypocholesterolemia, Int...	OMIM:212065
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Optic atrophy, Dental malocclusion, Oligodontia, Mic...	OMIM:618727
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Thrombocytosis...	OMIM:212750
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Aicardi-Goutieres Syndrome 3	Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to thrive, Th...	OMIM:229050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia	OMIM:602361
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94089
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Decr...	ORPHA:14
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Anemia	ORPHA:436
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Muenke Syndrome	Malar flattening, High palate, Dental malocclusion	OMIM:602849
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Small for gestational age, Hypocalcemia	OMIM:618440
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H...	OMIM:617093
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ...	ORPHA:85321
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de...	OMIM:616331
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Timothy Syndrome	Hypocalcemia	OMIM:601005
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Dental malocclusion	OMIM:608940
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Leukopenia, Anemia	ORPHA:27
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Zimmermann-Laband Syndrome	Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc...	ORPHA:3473
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia	OMIM:617303
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Optic atrophy, High p...	ORPHA:329178
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem...	OMIM:277900
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro...	ORPHA:29073
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased...	ORPHA:89842
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Dystonia, Failure to thrive, ...	OMIM:619487
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Alg12-Cdg	Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Thrombo...	ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia, Weight loss	ORPHA:67
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate	ORPHA:3079
Myopathy, Myofibrillar, 8	Dental malocclusion, High palate, Micrognathia	OMIM:617258
Hypocalcemic Vitamin D-Dependent Rickets	Failure to thrive, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Patent ductus arteriosus, Optic atrophy, Dental malocclusion, Downturne...	OMIM:616737
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypocalcemia	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	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Pseudohypoparathyroidism Type 1C	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hy...	ORPHA:79444
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion...	OMIM:617877
Larsen-Like Syndrome	Malar flattening, Dental malocclusion, Cleft palate	OMIM:608545
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Dental malocclusion, Micrognathia	OMIM:608257
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Cri-Du-Chat Syndrome	Microretrognathia, Thick lower lip vermilion, Optic atrophy, Orofacial cleft, Downturned corners ...	OMIM:123450
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,...	ORPHA:251028
Autosomal Dominant Hypocalcemia	Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Cleft palate, High ...	OMIM:210600
Non-Functioning Paraganglioma	Tremor, Hypercalcemia, Weight loss	ORPHA:94080
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Pseudohypoparathyroidism Type 1A	Calcinosis, Obesity, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function...	ORPHA:79443
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Leukopenia, Hy...	ORPHA:2298
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen...	ORPHA:699
Sclerosteosis 1	Mandibular prognathia, Papilledema, Optic atrophy, Dental malocclusion, Facial palsy secondary to...	OMIM:269500
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Selective tooth agenesis, Micrognathia, Dental malocclusion, Neoplasm, ...	ORPHA:2959
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina...	OMIM:619055
Propionic Acidemia	Pancytopenia, Dystonia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Failure t...	OMIM:606054
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia	OMIM:618329
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Op...	OMIM:234100
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Phelan-Mcdermid Syndrome	Micrognathia, Patent ductus arteriosus, Dental malocclusion, High palate, Widely spaced teeth, Lo...	OMIM:606232
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo...	OMIM:269880
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Myopathy, Centronuclear, X-Linked	High palate, Dental malocclusion	OMIM:310400
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Obesity, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Cleft lip, Patent ductus arteriosus, Dental malocclusion, Gingival overgrowth, Clef...	OMIM:616894
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hamamy Syndrome	Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low...	OMIM:611174
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate...	OMIM:115150
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Harrod Syndrome	Dental malocclusion, High palate, Narrow mouth	ORPHA:2115
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Failure to thri...	OMIM:251000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia	OMIM:300867
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ...	OMIM:601390
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia	OMIM:239200
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251110
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Patent d...	OMIM:300373
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hyperca...	ORPHA:199299
Hypophosphatasia, Infantile	Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia, Anemia	OMIM:241500
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ...	OMIM:251100
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,...	OMIM:618975
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Obesity	OMIM:103580
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirub...	OMIM:613658
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia	ORPHA:505248
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Galloway-Mowat Syndrome 1	Small for gestational age, Hypoalbuminemia, Dystonia	OMIM:251300
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97289
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia	OMIM:617729
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia, Weight loss	ORPHA:79242
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Patent ductus arteriosu...	ORPHA:96121
Noonan Syndrome 4	Wide mouth, Thick vermilion border, Dental malocclusion	OMIM:610733
Holoprosencephaly 9	Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ...	OMIM:615546
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Patent ductus arteriosus, Optic atrophy, De...	ORPHA:487796
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:858
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cleft palate, Short philtrum, Retinal neovascularization, Micrognathia	OMIM:619074
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight	OMIM:231000
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia	ORPHA:544482
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Hypoalbuminemia, Anemia	ORPHA:79396
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt...	OMIM:277380
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Cartilage-Hair Hypoplasia	Failure to thrive, Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T...	ORPHA:381
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Hypoalbuminemia, Anemia	ORPHA:79076
Isolated Agammaglobulinemia	Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Failure to thrive, ...	ORPHA:229717
Autosomal Recessive Malignant Osteopetrosis	Tremor, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemi...	ORPHA:95409
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Martin-Probst Syndrome	Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Malar flattening	OMIM:300519
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Localized Scleroderma	Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ...	ORPHA:90289
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyper...	ORPHA:358
Specific Granule Deficiency 2	Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:617475
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr...	ORPHA:97360
Alg8-Cdg	Hyponatremia, Small for gestational age, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:79325
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:619151
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Dental malocclusion, High palate,...	OMIM:102500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Open bite, Hig...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Open bite, Hig...	ORPHA:352665
Oliver Syndrome	Mandibular prognathia, High palate, Short philtrum, Dental malocclusion	ORPHA:2920
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Cockayne Syndrome A	Mandibular prognathia, Retinal atrophy, Delayed eruption of primary teeth, Carious teeth, Retinal...	OMIM:216400
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo...	ORPHA:444072
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, P...	OMIM:618371
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Small for gestational age, Elevated circulating creatine kinase concentratio...	OMIM:618775
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615085
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase...	OMIM:610377
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Osteopetrosis, Autosomal Recessive 3	Optic nerve compression, Dental malocclusion	OMIM:259730
Spondyloenchondrodysplasia	Enchondroma, Dental malocclusion, Delayed eruption of teeth	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Failure to thrive...	OMIM:614576
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man...	OMIM:614008
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Abnor...	ORPHA:191
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Micrognathia, Dental malocclusion, Cleft palate, Downtu...	OMIM:265000
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Persisten...	OMIM:300166
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Carious teeth, Pilomatrixoma, Patent ductus arteriosus, Talon cusp,...	ORPHA:353281
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia	ORPHA:391673
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H...	ORPHA:470
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Hypercalcemia, Weight loss	ORPHA:276621
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Odont...	ORPHA:800
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Au-Kline Syndrome	Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mouth, Oligodontia, High p...	OMIM:616580
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proport...	ORPHA:1830
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate	OMIM:182212
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hypoplastic sple...	OMIM:617053
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Juvenile Polyposis Syndrome	Failure to thrive, Hypoproteinemia, Anemia	ORPHA:2929
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:180849
Hennekam Syndrome	Splenomegaly, Lymphopenia, Hypocalcemia	ORPHA:2136
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen...	ORPHA:206572
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, H...	ORPHA:171
Dubowitz Syndrome	Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia	OMIM:223370
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Tremor, Athetosis, Thrombocytopenia, Dystonia	OMIM:617710
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Obesity, Hypoplasia of the thymus, Hypocalcemia, Failu...	ORPHA:567
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Thiamine-re...	ORPHA:85138
Mccune-Albright Syndrome	Cutaneous myxoma, Dental malocclusion, Abnormal facial skeleton morphology, Breast carcinoma	ORPHA:562
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp...	OMIM:601678
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Failure to thrive, Hypercalcemia	ORPHA:476126
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Optic atrophy, Dental ma...	OMIM:133540
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Smith-Lemli-Opitz Syndrome	Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole...	OMIM:270400
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Faciodigitogenital Syndrome, Autosomal Recessive	Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mouth, High palate	OMIM:227330
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla	OMIM:612731
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Hig...	OMIM:249420
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Thromb...	OMIM:301056
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia	OMIM:208085
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P...	OMIM:260400
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr...	OMIM:222700
Sepsis In Premature Infants	Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni...	ORPHA:90051
Monosomy 13Q34	Hypercalcemia, Obesity	ORPHA:96168
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula	OMIM:601552
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Hypercalcemia, Weight loss	ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Papilledema, Delayed eruption of teeth, Dental crowding, Hypoplasia of the...	OMIM:614188
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia, Limb dystonia	ORPHA:457351
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Castleman Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Weight loss, Decreased m...	ORPHA:160
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr...	OMIM:606003
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Wolfram Syndrome 1	Tremor, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:614520
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm...	ORPHA:666
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Tremor, Thrombocytopenia, Splenomegaly, Neutropenia, L...	OMIM:214500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Pilomatrixoma, Patent ductus arteriosu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Pilomatrixoma, Patent ductus arteriosu...	ORPHA:353277
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Increased circulating cortisol level, ...	ORPHA:97283
Digeorge Syndrome	Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	OMIM:188400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity	ORPHA:369837
Pseudo-Torch Syndrome 1	Splenomegaly, Failure to thrive, Thrombocytopenia, Dystonia	OMIM:251290
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Carpenter Syndrome 2	Carious teeth, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Narrow palate,...	OMIM:614976
Shigellosis	Hyponatremia, Failure to thrive in infancy, Leukocytosis, Abnormal blood ion concentration, Micro...	ORPHA:810
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Vipoma	Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level, Normochromic anemia	ORPHA:97282
Lujo Hemorrhagic Fever	Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ...	ORPHA:319213
Coffin-Lowry Syndrome	Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate...	OMIM:303600
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Pediatric-Onset Graves Disease	Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Th...	ORPHA:525731
Glucagonoma	Hypercalcemia, Acanthocytosis, Weight loss, Increased circulating cortisol level, Normochromic an...	ORPHA:97280
Felty Syndrome	Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Micrognathia, High, narrow palate, Patent ductus arteriosus, De...	OMIM:163950
Vitamin D-Dependent Rickets, Type 2A	Failure to thrive, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia	ORPHA:249
Shwachman-Diamond Syndrome 2	Normocytic anemia, Steatorrhea, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:617941
Lig4 Syndrome	Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Failure to thrive, Thrombo...	OMIM:606593
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:170100
Smith-Kingsmore Syndrome	Thrombocytopenia, Large for gestational age	OMIM:616638
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Pheochromocytoma	Hypercalcemia	OMIM:171300
Focal Dermal Hypoplasia	Delayed eruption of teeth, Cleft upper lip, Optic atrophy, Dental malocclusion, Cleft palate, Oli...	OMIM:305600
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy...	ORPHA:845
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop...	OMIM:242900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Hepatosplenomegaly, Hypocalcemia, Hypomagnesemia, Failure to thrive	OMIM:619503
Williams Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Retinal arteriolar t...	ORPHA:904
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:613989
Aneurysm-Osteoarthritis Syndrome	Patent ductus arteriosus, Dental malocclusion, Cleft palate, High palate, Malar flattening, Retro...	ORPHA:284984
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Dystonia	OMIM:620330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal...	ORPHA:79124
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Ppoma	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97278
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia	OMIM:611209
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Elevated circula...	ORPHA:79282
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Failure to thrive, Anemia	ORPHA:3322
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Weigh...	OMIM:615846
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Patent ductus arteriosus, Submucous clef...	OMIM:312870
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia, Dystonia	OMIM:225750
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia	ORPHA:75565
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Tremor, Leukocytosis, Leukopenia, Thromboc...	ORPHA:297
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Wars2-Related Combined Oxidative Phosphorylation Defect	Tremor, Athetosis, Thrombocytopenia, Limb dystonia	ORPHA:572798
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Gaucher Disease, Perinatal Lethal	Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Decreased body weight, Thrombocytopenia	OMIM:608013
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:913
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Fraser Syndrome 1	Dental crowding, Cleft upper lip, Dental malocclusion, Cleft palate, Difficulty in tongue movements	OMIM:219000
Grfoma	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenom...	OMIM:612541
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Monosomy 22Q13.3	Malar flattening, Dental crowding, Dental malocclusion	ORPHA:48652
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia	OMIM:615574
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Failure to thrive	OMIM:616881
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Parathyroid Carcinoma	Weight loss, Hypercalcemia, Hypophosphatemia	ORPHA:143
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Johanson-Blizzard Syndrome	Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi...	OMIM:243800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227645
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615758
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Adams-Oliver Syndrome	Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Fraser Syndrome	Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, High palate, Bifid tongue	ORPHA:2052
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Charge Syndrome	Lymphopenia, Hypocalcemia	OMIM:214800
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:613990
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Brucellosis	Small for gestational age, Elevated circulating C-reactive protein concentration, Hypersplenism, ...	ORPHA:1304
Caroli Syndrome	Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm...	ORPHA:480520
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Loeys-Dietz Syndrome 3	Patent ductus arteriosus, Dental malocclusion, Cleft palate, High palate, Malar flattening, Retro...	OMIM:613795
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Farber Disease	Thrombocytopenia, Failure to thrive, Anemia, Hepatosplenomegaly	ORPHA:333
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Thick lower lip vermilion, Dental malocclusion, Hypodontia, Long p...	OMIM:194050
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hyperchol...	ORPHA:534
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Failure to thrive	OMIM:617864
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Weight los...	ORPHA:50918
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Tremor, Thrombocytopenia, Anemia, Dystonia	OMIM:612199
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Hypercalcemia	ORPHA:276152
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Failure to thrive, Anemia	OMIM:603467
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:261323
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Mogs-Cdg	Dystonia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Lathosterolosis	Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperbilirubinemia	ORPHA:464321
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227646
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:230900
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Weight l...	ORPHA:797
Gaucher Disease	Pancytopenia, Elevated circulating C-reactive protein concentration, Tremor, Thrombocytopenia, Sp...	ORPHA:355
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Osteopetrosis, Autosomal Recessive 7	Anemia, Splenomegaly, Hypocalcemic seizures	OMIM:612301
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Postural tremor, Truncal obesity, Thrombocytopenia	OMIM:301072
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:652
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Q Fever	Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:781
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Failure to thrive	OMIM:617527
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Ogden Syndrome	Torticollis, Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytopenia	OMIM:300855
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Failure to thrive, Thrombocy...	OMIM:301068
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly	ORPHA:1775
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619004
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Pmm2-Cdg	Reduced thyroxin-binding globulin, Failure to thrive, Hypoalbuminemia, Impaired neutrophil chemot...	ORPHA:79318
Jacobsen Syndrome	Failure to thrive, Thrombocytopenia	OMIM:147791
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia	ORPHA:84
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro...	ORPHA:2072
Acute Liver Failure	Thrombocytopenia, Hyperammonemia	ORPHA:90062
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Tremor, Chronic lymphatic leukemia, Hepatosplenomegaly, Dys...	ORPHA:51
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:619525
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Sotos Syndrome	Acute lymphoblastic leukemia, Tremor, Hypercalcemia	ORPHA:821
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Weight loss	ORPHA:79078
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Peak1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Peak1.

No publications found that use IMPC mice or data for Peak1.

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MGI Allele	Allele Type	Produced
Peak1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Peak1 MGI:2442366

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Eye Morphology

Electroretinography 3

X-ray

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Peak1 mutations

Histopathology

IMPC related publications

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