Gene Summary

Name:
structural maintenance of chromosomes 5
Synonyms:
Smc5l1

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
tremors Smc5tm1b(KOMP)Wtsi HET Early adult 2.00×10-06
decreased circulating HDL cholesterol level Smc5tm1b(KOMP)Wtsi HET Early adult 1.67×10-07
decreased hematocrit Smc5tm1b(KOMP)Wtsi HET   Early adult 3.45×10-05
increased circulating bilirubin level Smc5tm1b(KOMP)Wtsi HET Early adult 1.83×10-06
decreased circulating cholesterol level Smc5tm1b(KOMP)Wtsi HET Early adult 1.09×10-06
decreased erythrocyte cell number Smc5tm1b(KOMP)Wtsi HET Early adult 4.17×10-05
increased eosinophil cell number Smc5tm1b(KOMP)Wtsi HET Early adult 2.29×10-06
preweaning lethality, complete penetrance Smc5tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased lymphocyte cell number Smc5tm1b(KOMP)Wtsi HET Early adult 6.07×10-10
decreased circulating glucose level Smc5tm1b(KOMP)Wtsi HET Early adult 2.31×10-05
increased neutrophil cell number Smc5tm1b(KOMP)Wtsi HET Early adult 2.71×10-10
thrombocytopenia Smc5tm1b(KOMP)Wtsi HET Early adult 1.16×10-05

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote 100% (1 of 1)
Embryo N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Chorioallantoic placenta N/A heterozygote 100% (1 of 1)
Skin N/A heterozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.26% (6 of 477)
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
eye 0.21% (1 of 480)
footplate 0.21% (1 of 480)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
heart 0.21% (1 of 471)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
liver 0.21% (1 of 474)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
midbrain 0.21% (1 of 471)
oral cavity 0.21% (1 of 470)
placenta 17.07% (7 of 41)
skin 0.0%
tail 0.21% (1 of 470)
tail somite group 0.0%

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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

1 Images

Human diseases caused by Smc5 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 Smc5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersp... OMIM:610539
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Immunodeficiency 88
Eosinophilia OMIM:619630
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Immunodeficiency 40
Lymphopenia OMIM:616433
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... OMIM:613280
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia, Decreased hemoglobin concentration, Hemolytic anemia, Tremor, Reticul... ORPHA:713
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... OMIM:159550
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration, Clumsiness OMIM:253600
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemi... OMIM:615558
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... OMIM:235700
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... OMIM:224120
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Anemia, Thrombocytopenia, Dystonia OMIM:619302
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... OMIM:267700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Halothane Hepatitis
Eosinophilia OMIM:234350
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Immunodeficiency 19
Lymphopenia OMIM:615617
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Thrombocytopenia, Dystonia OMIM:619301
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Hereditary Elliptocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... ORPHA:288
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... ORPHA:2070
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... OMIM:618892
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Hyperammonemia, Chorea, Choreoathetosis, Neutropenia, Anemia, Thrombocyto... ORPHA:289916
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia OMIM:254900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Type I diabetes mell... OMIM:304790
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hand tremor, ... ORPHA:79299
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... OMIM:266200
Kimura Disease
Eosinophilia ORPHA:482
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Autoimmune... ORPHA:444463
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Rh-Null, Regulator Type
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Hemolytic anemia, Neutropenia, Spastic tetraparesis OMIM:266130
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Rigidity, Dystonia OMIM:615010
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia, Spasticity OMIM:610329
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Hyperammonemia, Leukopenia, Macrocytic anemia, Tetraparesis, Choreoathetosis... ORPHA:27
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Spasticity OMIM:618092
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Immunodeficiency 49
Eosinophilia, Lymphopenia, Spastic tetraplegia OMIM:617237
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Wells Syndrome
Eosinophilia ORPHA:901
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Spastic tetraplegia, Hypertonia OMIM:601815
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Thrombocytopenia, Slurred speech ORPHA:3327
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... OMIM:603553
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Hereditary Spherocytosis
Ataxia, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Sp... ORPHA:822
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia, Spasticity ORPHA:67048
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Hypertonia, Anemia, Myoclonus OMIM:610090
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei OMIM:229100
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Chorea OMIM:616744
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Dysmetria, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acan... ORPHA:96180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Splenomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia ORPHA:79312
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:173590
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... OMIM:615924
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Chorea, Thrombocytopenia OMIM:301080
Pgm3-Cdg
Cutaneous abscess, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ... ORPHA:443811
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Hypertonia, Myoclonus, Hypoargininemia, Abnormal cir... ORPHA:79096
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Hypoglycemic seizures OMIM:609734
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural ki... OMIM:243700
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Dystonia, Increased total bilirubin, Abnormality of extrapyramidal motor fu... OMIM:616299
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre... ORPHA:101028
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia, Slurred speech, Myoclonus OMIM:274240
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Neonatal insulin-depen... ORPHA:1667
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, T... OMIM:251000
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Pancytopenia, Tremor, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemi... OMIM:251100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Pancytopenia, Thrombocytopenia, Eyelid myoclonus OMIM:613839
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Lymphopenia, Abnormal central motor function, Spastic paraparesis, Cerebral p... ORPHA:760
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Immunodeficiency 23
Ataxia, Cortical myoclonus, Lymphopenia, Eosinophilia, Abscess, Myoclonus, Hemolytic anemia, Neut... OMIM:615816
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Hypereosinoph... OMIM:617388
Gaucher Disease, Type Iii
Ataxia, Spastic paraparesis, Splenomegaly, Myoclonus, Pancytopenia, Thrombocytopenia OMIM:231000
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypogly... ORPHA:199299
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Osteopetrosis, Autosomal Recessive 5
Hypertonia, Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopo... OMIM:259720
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Hypercalcemia, Anemia, Thrombocytopenia ORPHA:69077
Propionic Acidemia
Hyperammonemia, Limb hypertonia, Pancytopenia, Hypoglycemia, Hyperglycinemia, Neutropenia, Anemia... OMIM:606054
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529808
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529799
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Steatorrhea, Refractor... OMIM:557000
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Autosomal Dominant Spastic Paraplegia Type 29
Babinski sign, Hyperbilirubinemia, Clonus ORPHA:101009
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia, Type I diabetes mellitus ORPHA:275555
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia, Diabetes mellitus OMIM:613845
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Myoclonus OMIM:614946
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic microcytic anemia... ORPHA:3240
Aicardi-Goutieres Syndrome 4
Splenomegaly, Hepatosplenomegaly, Spasticity, Pancytopenia, Thrombocytopenia, Dystonia OMIM:610333
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Myoclonus, Paralysis, Hyponatremia, Thrombocytopenia ORPHA:83601
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Me... OMIM:614857
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Gaucher Disease, Type Ii
Splenomegaly, Rigidity, Spasticity, Oculomotor apraxia, Anemia, Thrombocytopenia OMIM:230900
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... OMIM:301078
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis, Abnormal serum bile acid concentra... ORPHA:79303
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Neutropenia, Abnormal T cell subset distrib... ORPHA:158048
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Methylmalonic acidemia... OMIM:277380
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... ORPHA:48818
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... OMIM:611881
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia, Splenomegaly OMIM:235555
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... OMIM:277900
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm... OMIM:251110
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Hypoglycemia, Tremor, Spastic tetraple... OMIM:617710
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Ataxia, Hyperbilirubinemia, Dysmetria, Steator... ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Myoclonus, Hem... OMIM:618278
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Thiamine-responsive megaloblas... OMIM:249270
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia ORPHA:449400
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:231095
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increase... OMIM:613179
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Tremor, Elevated circulating creatinine concentrat... OMIM:274150
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... OMIM:261640
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Hemiparesis, Schistocytosis, Elevated circulating ... OMIM:235400
Griscelli Syndrome
Ataxia, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, Abnormality of neutro... ORPHA:381
Cystic Echinococcosis
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase concentration,... OMIM:618838
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Spastic paraplegia, Clonus, Neonatal hyperbilirubinemia, Upper limb spasticity, Lo... OMIM:609727
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocytopenia, Recurrent c... ORPHA:229717
Immunodeficiency 95
Lymphopenia OMIM:619773
Cog4-Cdg
Ataxia, Limb hypertonia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Sengers Syndrome
Thrombocytopenia OMIM:212350
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Isovaleric Acidemia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Spastic diplegia, Tremor, Abnormality of circulating enzyme level... ORPHA:3124
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Dystonia, Neutropenia OMIM:617248
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Opisthotonus, Leukopenia, Myoclonus, Hyperkinetic movements, Tremor, Choreoathetosis, Spa... OMIM:616271
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Pelger-Huet Anomaly
Lower limb hypertonia, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant p... OMIM:169400
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Increased CD4:CD8 ratio... OMIM:618048
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Spasticity OMIM:612952
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... OMIM:278000
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsiness, Leukocyto... OMIM:615673
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... ORPHA:88673
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Potocki-Lupski Syndrome
Motor stereotypy, Hypocholesterolemia OMIM:610883
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Pyruvate Carboxylase Deficiency
Ataxia, Hyperlysinemia, Recurrent hand flapping, Hyperammonemia, Increased serum pyruvate, Hyperp... ORPHA:3008
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculomotor apraxia,... OMIM:612716
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... OMIM:185070
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepatosplenomegaly, Th... ORPHA:210136
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Thrombocytopenia, Tremor, Diabetes mellitus, Sideroblastic anemia OMIM:222300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus OMIM:614162
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia OMIM:618387
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... OMIM:615160
Congenital Rubella Syndrome
Splenomegaly, Spastic diplegia, Type I diabetes mellitus, Anemia, Thrombocytopenia ORPHA:290
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Elevated circulating creatine kinase concentration, Limb fasciculations, Abnormal glucose... ORPHA:90117
Bachmann-Bupp Syndrome
Hypoglycemia, Lower limb spasticity, Hyperbilirubinemia OMIM:619075
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spasticity, Incr... OMIM:614307
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Spasticity, Hyperammonemia ORPHA:6
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Dysmetria, Steatorrhea, Intention tremor, Thrombocytosis, Hypocholesterolemia, Tremor, Hy... OMIM:212065
Netherton Syndrome
Hypereosinophilia OMIM:256500
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Hyponatremia, Abnormal glucose homeostasis, Thrombocytopenia, Hypergly... ORPHA:391673
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Elevated circulating creatine kinase concentration, Fasciculations ORPHA:276435
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Hypertonia, Polycythemia, Opisthotonus OMIM:250800
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia,... ORPHA:363400