Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
selectin, platelet
Synonyms:
P-selectin,  Grmp,  CD62P

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Selp 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 Selp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent u... OMIM:617585
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cut... OMIM:613953
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... OMIM:613501
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level OMIM:235900
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil an... OMIM:619220
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ... OMIM:616126
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Attention... OMIM:300310
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Abnormal head movements, C... ORPHA:382
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis OMIM:216950
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Griscelli Syndrome, Type 2
Spasticity, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bac... OMIM:607624
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... ORPHA:182050
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Increased c... OMIM:618982
Mantle Cell Lymphoma
Anorexia, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos... ORPHA:331206
Purine Nucleoside Phosphorylase Deficiency
Recurrent viral infections, Tetraparesis, Lymphopenia, Lymph node hypoplasia, Ataxia, Recurrent l... OMIM:613179
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD8-pos... ORPHA:169154
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Eczematoid derm... ORPHA:98813
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... OMIM:243700
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Immunodeficiency 27A
Pneumonia, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomega... OMIM:209950
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Reticular Dysgenesis
Sepsis, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopen... ORPHA:33355
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... OMIM:619802
Huntington Disease-Like 1
Involuntary movements, Abnormal head movements, Incoordination, Chorea, Gait ataxia, Simultanapra... ORPHA:157941
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss, Dystonia ORPHA:98934
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... ORPHA:83471
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Leukocytos... ORPHA:3318
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... OMIM:620632
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b... OMIM:619150
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Wells Syndrome
Eosinophilia ORPHA:901
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Glycoprotein Storage Disease
Gout OMIM:232900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... OMIM:601399
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Skin rash, Prolonged bleeding time ORPHA:1059
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec... ORPHA:2688
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigi... ORPHA:216873
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... ORPHA:443811
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Huntington Disease
Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight loss, Clonus, Bradykinesia, Poo... ORPHA:399
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... ORPHA:85435
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereot... OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency 108 With Autoinflammation
Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait, Motor st... OMIM:614063
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody ... ORPHA:169160
Dystonia 11, Myoclonic
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors OMIM:159900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Hepa... OMIM:615924
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Immunodeficiency 62
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:618459
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... OMIM:300400
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Pachygyria OMIM:606053
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Immunodeficiency 69
Hemophagocytosis, BCGitis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Spl... OMIM:618963
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... OMIM:607676
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... OMIM:615122
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Spasticity, Involuntary movements, Inability to walk, Dystonia, Motor st... OMIM:617820
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Juvenile Huntington Disease
Broad-based gait, Chorea, Gait ataxia, Myoclonus, Rigidity, Dystonia, Weight loss, Hyperactivity,... ORPHA:248111
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Proteasome-Associated Autoinflammatory Syndrome 2
Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor... OMIM:618048
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Leigh Syndrome, Nuclear
Spasticity, Failure to thrive, Hepatocellular necrosis, Ataxia, Dystonia OMIM:256000
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Neut... ORPHA:859
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt... ORPHA:169079
Felty Syndrome
Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A... ORPHA:47612
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Decreased CD4:CD... OMIM:606367
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Pruritus, Maculo... ORPHA:98848
Immunodeficiency 46
Sepsis, Failure to thrive, Intermittent thrombocytopenia, Conjunctivitis, Recurrent sinopulmonary... OMIM:616740
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... OMIM:612840
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233710
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo... OMIM:601495
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... OMIM:231100
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Defective T cell pro... OMIM:615615
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... ORPHA:85410
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Chilblains, Thrombocytopenia, Hepatomegaly, D... OMIM:615010
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia, ... OMIM:618093
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... OMIM:618709
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Failure to thrive, Splenomegaly,... OMIM:603554
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic interstitial pneum... OMIM:618495
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased c... OMIM:614470
Necrobiosis Lipoidica
Telangiectasia of the skin, Abnormality of neutrophil physiology, Inflammatory abnormality of the... ORPHA:542592
Huntington Disease-Like 3
Broad-based gait, Spasticity, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Anti-liver cytosolic ant... ORPHA:2137
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Limb ataxia, Gait ataxi... OMIM:616719
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Difficulty... ORPHA:905
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Failure to thrive, Recurrent respiratory infections, Hepatocellu... OMIM:618278
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233690
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation OMIM:617171
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Skin ra... ORPHA:47
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro... ORPHA:507
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Aplastic anemia, Leukemia, Periodontitis, Lymphopenia, Rec... ORPHA:486
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil... OMIM:615952
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Immunodeficiency 23
Allergic rhinitis, Molluscum contagiosum, Increased circulating IgE level, Lymphopenia, Abscess, ... OMIM:615816
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Clumsiness, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level... OMIM:102700
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyramidal sign, H... OMIM:617435
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Anorexia, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Ata... ORPHA:391
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... ORPHA:101110
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Abnormal bleeding, Anemia of inadequate productio... ORPHA:98826
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Spasticity, Recurrent viral infections, Hepatitis, Eczematoid ... OMIM:620565
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringin... ORPHA:561854
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi... OMIM:307200
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s... OMIM:615468
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... OMIM:618218
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Speech a... OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Self-mutilation, Tremor, Aggressive behavior, Waddling... OMIM:616269
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Dysphagia OMIM:128235
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... OMIM:614172
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrh... OMIM:619693
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:353298
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Throm... OMIM:229050
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... ORPHA:69126
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Wiskott-Aldrich Syndrome
Gingival bleeding, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD8-posi... OMIM:301000
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis OMIM:612126
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Furuncle, Decreased circulating total IgM, ... OMIM:618969
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Hep... OMIM:214500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... OMIM:600795
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Autoinflammation With Arthritis And Dyskeratosis
Polyarticular arthritis, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Punctate k... OMIM:617388
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Absent neutrophil specifi... OMIM:617475
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... OMIM:618986
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss, Dysphagia ORPHA:930
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... OMIM:616100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Decreased specific pneumococcal antibody level, Increased circulating IgM level, ... OMIM:615513
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Polycythemia, Decre... OMIM:613280
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... ORPHA:169090
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Hypertonia, Motor stereotypy, Spastic tetraplegia OMIM:615282
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Anorexia, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Neutropenia, Thr... ORPHA:79312
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ... ORPHA:277
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Chorea, Hemiplegia/hemiparesis, Hepatomegaly, Lethargy, Pancreatitis, Neutropenia, Thromb... ORPHA:289916
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Episodic Ataxia Type 4
Incoordination, Abnormal head movements, Frequent falls, Ataxia ORPHA:79136
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Cholestasis, Acute hepatic failure, Hepatic steatosis, Loss of ambulation, Cirr... OMIM:256810
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements, Ataxia, Dyst... OMIM:245348
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology, Anorexia ORPHA:2023
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... OMIM:615767
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Cerebral palsy, Episcleritis, Splenomegaly, Hemiplegia/hemiparesis, Skin rash, He... ORPHA:36412
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Hypersplenism, Increased proportion of CD25+ mast cells, Hepa... ORPHA:98850
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Mediastin... ORPHA:545
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Int... ORPHA:90308
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Otitis media, Sinusitis OMIM:312863
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Spasticity, Poor coordination, Difficulty walking, Ina... OMIM:617695
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas... ORPHA:90003
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau... OMIM:618718
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus,... ORPHA:2590
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Periventricular heterotopia, Hyperactivity, Sel... OMIM:300624
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Lower limb spa... OMIM:619028
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadeniti... OMIM:306400
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Aspiration pneumonia, Inability to walk, Opisthot... ORPHA:216866
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Osteomyelit... OMIM:615978
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Joint stiffness, Malar rash, Skin rash, Cytoplasmic antineutrophil antibody positi... OMIM:615934
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia ORPHA:276435
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ata... ORPHA:167
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disin... OMIM:168605
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... ORPHA:54251
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorable response t... OMIM:616710
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Ataxia-Telangiectasia
Spasticity, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the th... ORPHA:100
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Dystonia, Spastic ... ORPHA:280763
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis ORPHA:2070
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Lethargy, Hepatomegaly, Necrotiz... OMIM:201475
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Overweight, Motor ... OMIM:620065
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... OMIM:301078
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... OMIM:301081
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr... ORPHA:300605
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hyperkinetic mov... ORPHA:93958
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Aggressive behavior, Parkinson... OMIM:137440
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... OMIM:615559
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Xq28 (MECP2) duplication
Failure to thrive, Inability to walk, Decreased circulating IgA level, Gait ataxia, Motor stereot... DECIPHER:45
Autosomal Agammaglobulinemia
Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Failure to thrive, Osteomyel... ORPHA:33110
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... ORPHA:397596
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chorea, Leukocytosis... OMIM:615673
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Severe viral infect... OMIM:619644
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Idiopathic Aplastic Anemia
Gingival bleeding, Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecch... ORPHA:88
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... OMIM:620321
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Anti-liver cytosolic antigen type 1 ant... ORPHA:562639
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... ORPHA:51636
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... OMIM:261640
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Cystic Echinococcosis
Cholestatic liver disease, Unusual infection, Peritoneal abscess, Elevated circulating hepatic tr... ORPHA:400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ... ORPHA:240085
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... OMIM:619924
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Neutropenia, Ataxia, Recurrent bacterial infections, Macrothr... OMIM:603585
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Cervical lymphadenopathy, Abnormal n... ORPHA:3392
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas... ORPHA:100093
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Tremor, Biliary tract abnormality ORPHA:79234
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing... OMIM:614104
Agammaglobulinemia 8B, Autosomal Recessive