Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Peak1em1(IMPC)J HOM Early adult 7.63×10-07
abnormal cholesterol homeostasis Peak1em1(IMPC)J HOM Early adult 2.18×10-11
increased startle reflex Peak1em1(IMPC)J HOM Early adult 7.04×10-10
thrombocytopenia Peak1em1(IMPC)J HOM   Early adult 7.17×10-05
decreased circulating calcium level Peak1em1(IMPC)J HOM Early adult 1.70×10-05
decreased blood urea nitrogen level Peak1em1(IMPC)J HOM   Early adult 8.59×10-05
decreased circulating HDL cholesterol level Peak1em1(IMPC)J HOM Early adult 3.86×10-10
decreased circulating cholesterol level Peak1em1(IMPC)J HOM Early adult 4.82×10-09
decreased circulating total protein level Peak1em1(IMPC)J HOM Early adult 2.77×10-06
decreased circulating serum albumin level Peak1em1(IMPC)J HOM   Early adult 2.11×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Electroretinography 3

Fundus file

5 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

6 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

Human diseases caused by Peak1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Peak1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar flattening,... OMIM:616108
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor OMIM:610539
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased total bilirubin, Increased circul... OMIM:603553
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Abnormality of thrombocytes, Hypocalcemia, Failure to thrive ORPHA:172
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Dystonia, Elevated circulating alpha-fetoprotein ... OMIM:616267
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l... ORPHA:507
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ... ORPHA:26793
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive ORPHA:163693
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion OMIM:618292
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Short philtrum, Mandibu... ORPHA:2471
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion ORPHA:1858
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Diastema, Micrognathia, Malar flattening, Rod-cone dystrophy, Patchy atrophy... ORPHA:436245
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Nephroblastoma, Absen... OMIM:253250
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive ORPHA:79320
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Cherubism
Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge over... OMIM:118400
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Thrombocytopen... OMIM:608104
Adamantinoma
Hypercalcemia ORPHA:55881
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Patent ductus art... OMIM:613680
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Splenomegaly OMIM:608776
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Craniosynostosis 3
Dental malocclusion OMIM:615314
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Thrombocytopenia, Anemia ORPHA:47
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrow... ORPHA:61
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Failure to thrive ORPHA:2315
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Optic atrophy from... ORPHA:210110
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Dental malocclusion, Widely-spaced maxillary central incisors, Incisor ... OMIM:619719
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration... OMIM:615895
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Micrognathia, Smooth philtrum, High ... OMIM:610883
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Dental malocclusion, Open mouth, Patent ductus arteriosus OMIM:619149
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... OMIM:210250
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94089
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia OMIM:175500
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia ORPHA:1655
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic... OMIM:254900
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:612462
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... ORPHA:1327
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive OMIM:606407
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, ... ORPHA:94093
Rhabdoid Tumor
Anemia, Weight loss, Hypercalcemia, Thrombocytopenia ORPHA:69077
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Retinal coloboma, Thick lower lip ... OMIM:157980
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow, Microdontia, Thin upper lip ve... OMIM:619293
Mpi-Cdg
Hypoalbuminemia, Failure to thrive ORPHA:79319
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Dystonia,... ORPHA:79312
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Iron de... ORPHA:1667
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis, Failure to thrive ORPHA:71
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Endosteal Hyperostosis, Autosomal Dominant
Torus palatinus, Dental malocclusion OMIM:144750
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive, Steatorrhea OMIM:602579
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL cholesterol concentration, Eleva... OMIM:618156
Fanconi Anemia, Complementation Group S
Dental malocclusion, Thick upper lip vermilion, Macrodontia, Ovarian carcinoma, Narrow palate, Ov... OMIM:617883
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis ORPHA:289916
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Autoimmune hemolytic... ORPHA:37042
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening... OMIM:618727
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Tremor, Thrombocytosis, Steatorrhea, Int... OMIM:212065
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... ORPHA:1873
Pontocerebellar Hypoplasia, Type 15
Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Pseudopapilled... ORPHA:2980
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Macrocytic anemia, Weight loss, Iron deficiency anemia, Thromboc... OMIM:212750
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate OMIM:612350
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:264700
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive OMIM:602361
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Decre... ORPHA:96180
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutrope... OMIM:229050
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ... OMIM:251880
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia OMIM:174900
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Micrognathia, ... OMIM:616331
Oculoskeletodental Syndrome
Splenomegaly, Small for gestational age, Hypercalcemia, Hypocalcemia OMIM:618440
Pontocerebellar Hypoplasia, Type 14
Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619301
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub... OMIM:617093
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... OMIM:615285
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Hypophosphatasia
Failure to thrive in infancy, Anemia, Hypercalcemia ORPHA:436
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Timothy Syndrome
Hypocalcemia OMIM:601005
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Micrognathia, Malar... ORPHA:85321
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Long philtrum, Thick uppe... ORPHA:2563
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia, Choreoathetosis ORPHA:27
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Failure to thrive, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia... ORPHA:289157
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly, Failure to thrive ORPHA:367
Zimmermann-Laband Syndrome
Bifid uvula, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, High palate... ORPHA:3473
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyperproteinemi... ORPHA:29073
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Dental malocclusion, Micrognathia, Thin upper lip vermilion, Deep philtrum, High p... ORPHA:329178
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia OMIM:617303
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Anemia, Small for gestational age OMIM:127000
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Myopathy, Myofibrillar, 8
High palate, Micrognathia, Dental malocclusion OMIM:617258
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Three M Syndrome 2
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... OMIM:612921
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Weight loss, Leukocytosis ORPHA:67
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Head titubation, Thrombocytopenia, Hypochromic micr... ORPHA:3240
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho... ORPHA:79324
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Takenouchi-Kosaki Syndrome
Optic atrophy, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced tee... OMIM:616737
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Weight loss, Anemia, Dystonia, Hemolytic ... OMIM:619487
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Open bite, Abnormal dental morphology, High palate, Mandibular prognathia ORPHA:3079
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypocalcemia, Failure to thrive OMIM:607143
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, ... OMIM:619991
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Thin upper lip vermilion, Everted lower lip vermilion, High palat... OMIM:617877
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Cholesteryl Ester Storage Disease
Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy... OMIM:278000
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Cleft palate OMIM:608545
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Cri-Du-Chat Syndrome
Optic atrophy, Bifid uvula, Microretrognathia, Downturned corners of mouth, Thick lower lip vermi... OMIM:123450
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Malar flattening OMIM:608257
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro... OMIM:190350
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Agenesis of pe... ORPHA:251028
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, Hy... ORPHA:79444
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Micrognathia, Enamel hypoplasia, ... OMIM:210600
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:210136
Autosomal Dominant Hypocalcemia
Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Decre... ORPHA:2298
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:94080
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Sclerosteosis 1
Optic atrophy, Tooth malposition, Dental malocclusion, Facial palsy secondary to cranial hyperost... OMIM:269500
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Thrombocytopenia, B lymphocytopenia, E... OMIM:618048
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hand tremor, Hemolytic anemia, Hyperbilirubinemia, Limb dystonia, ... OMIM:277900
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Anemia, H... ORPHA:699
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Dental malocclusion, Selective tooth agenesis, Micrognathia, Neoplasm, Fragile teeth... ORPHA:2959
Juvenile Nephropathic Cystinosis
Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta... ORPHA:411634
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Weight loss,... ORPHA:85443
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Propionic Acidemia
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ... OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina... OMIM:619055
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, Hy... ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... OMIM:614857
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Optic disc coloboma, Chorio... OMIM:234100
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... ORPHA:186
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
Phelan-Mcdermid Syndrome
Dental malocclusion, Long philtrum, Widely spaced teeth, Micrognathia, Malar flattening, High pal... OMIM:606232
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion OMIM:310400
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Hypodo... OMIM:269880
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Agenesis of permanent... OMIM:616894
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Xfe Progeroid Syndrome
Hypoalbuminemia, Cachexia, Failure to thrive OMIM:610965
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia OMIM:610333
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Neutrophi... OMIM:619644
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth ORPHA:2115
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglyc... OMIM:251110
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Open bite, Micrognathia, Open mouth, Submucous... OMIM:115150
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Hamamy Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Thin upper lip vermilion, Hypodontia, Smooth ph... OMIM:611174
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... OMIM:211380
Immunodeficiency 46
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Neutropenia, Thrombocyt... OMIM:251100
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Micrognathia, Tented... OMIM:601390
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c... ORPHA:2785
Kabuki Syndrome 2
Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, High palate, Cleft palate OMIM:300867
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Slender build, Pancytopenia, Hypocalcemia, Anemia, Unconjugat... OMIM:613658
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Dental malocclusion, Optic disc coloboma, Retinal thinning, ... OMIM:608940
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Congenital Myopathy 17
Dental malocclusion, Long philtrum, Tented upper lip vermilion, Narrow jaw, Smooth philtrum, High... OMIM:618975
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Natal tooth, Craniofacial osteosclerosis, Dental malocclusion, Dental crowding, Clef... OMIM:300373
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Hyperphosphatemia OMIM:103580
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Frontometaphyseal Dysplasia 1
Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ... OMIM:305620
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Failure to thrive OMIM:241500
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia ORPHA:505248
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive OMIM:617729
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Dystonia, Small for gestational age OMIM:251300
Holocarboxylase Synthetase Deficiency
Weight loss, Hyperammonemia, Thrombocytopenia ORPHA:79242
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodon... OMIM:101800
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Failure to thrive, Hyperuricemia, Macrocytic anemia, Hyponatremia, Decreased c... ORPHA:199299
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced tee... ORPHA:487796
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Me... OMIM:251000
7Q11.23 Microduplication Syndrome
Dental malocclusion, Retrognathia, Diastema, Micrognathia, Short lingual frenulum, Thin upper lip... ORPHA:96121
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Noonan Syndrome 4
Wide mouth, Dental malocclusion, Thick vermilion border OMIM:610733
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Micrognathia, Tented... OMIM:615546
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Micrognathia, Retinal neovascularization, Cleft palate OMIM:619074
Familial Adenomatous Polyposis 1
Carious teeth, Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Eruption fai... OMIM:175100
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Hypocalcemia, Failure to thrive ORPHA:175
Pierson Syndrome
Hypoproteinemia OMIM:609049
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia ORPHA:544482
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Congenital Toxoplasmosis
Failure to thrive in infancy, Anemia, Thrombocytopenia ORPHA:858
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia, Failure to thrive ORPHA:79396
Hypomagnesemia 3, Renal