Gene Summary

Name:
CDC-like kinase 1
Synonyms:
Clk1,  STY

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
decreased granulocyte number Clk1tm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-06
thrombocytosis Clk1tm1a(EUCOMM)Wtsi HOM Early adult 4.34×10-06
decreased circulating serum albumin level Clk1tm1a(EUCOMM)Wtsi HOM Early adult 6.83×10-05
abnormal retina morphology Clk1tm1a(EUCOMM)Wtsi HOM Early adult 3.61×10-06
increased startle reflex Clk1tm1a(EUCOMM)Wtsi HOM Early adult 1.25×10-10
abnormal response to tactile stimuli Clk1tm1a(EUCOMM)Wtsi HOM Early adult 2.70×10-06
decreased circulating calcium level Clk1tm1a(EUCOMM)Wtsi HOM Early adult 3.82×10-06
decreased NK cell number Clk1tm1a(EUCOMM)Wtsi HOM Early adult 4.14×10-05
tremors Clk1tm1a(EUCOMM)Wtsi HOM Early adult 1.66×10-05
increased IgG2b level Clk1tm1a(EUCOMM)Wtsi HOM Early adult 1.43×10-08
increased circulating phosphate level Clk1tm1a(EUCOMM)Wtsi HOM Early adult 8.42×10-06
increased bone mineral content Clk1tm1a(EUCOMM)Wtsi HOM Early adult 3.54×10-05
increased circulating creatinine level Clk1tm1a(EUCOMM)Wtsi HOM Early adult 1.45×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

11 Images

Human diseases caused by Clk1 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 Clk1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc... ORPHA:94090
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin... OMIM:620632
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increase... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Increased alpha-globulin OMIM:235900
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Incre... ORPHA:36913
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia ORPHA:100025
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Reduced bone mineral density, Abnormality of thrombocytes, Hypocalcemia ORPHA:172
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Increased bone density with cystic ch... ORPHA:94089
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinoph... OMIM:226990
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Neutropenia, Ataxia, Spastic tetraparesis, Increased level of L-pyrogluta... OMIM:266130
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration OMIM:154276
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci... OMIM:604416
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat... ORPHA:90362
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase... ORPHA:507
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... OMIM:127000
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Tremor, Decreased serum cre... OMIM:617744
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... OMIM:267700
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Retinopathy, Hyperuricemia, Angioid streaks of ... OMIM:239000
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, L... ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In... OMIM:619313
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration OMIM:145600
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Reduced haptoglobin level, Splenomegaly, Ataxia, Dystonia, Hemolytic ane... OMIM:612126
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Oculomotor apraxia, Hypercholesterolemia, Tetraplegia, Abnormal pyramidal sign, ... OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Spastic dysarthria, Hypercholesterolemia, Ataxia ORPHA:94124
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... OMIM:603553
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Thrombocythemia 3
Thrombocytosis OMIM:614521
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Thrombocythemia 2
Thrombocytosis OMIM:601977
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Decreased circulating complement C3 concentration, Drusen ORPHA:54370
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp, Cortical myoclonu... ORPHA:428
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Pancytopenia, Splenomegaly, Hypocalcemia, Osteopetrosis, Thrombo... OMIM:259700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal ci... ORPHA:3124
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Cogwheel rigidity, Gai... OMIM:128230
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Hypermanganesemia, S... ORPHA:521406
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Ataxia OMIM:607250
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Subperiosteal bone formation, Cal... OMIM:211900
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Elevated circulating creatinine concentration, Papilledema, Osteopetrosis, An... OMIM:620366
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Alg6-Cdg
Hypoalbuminemia, Retinal degeneration, Decreased LDL cholesterol concentration, Rod-cone dystroph... ORPHA:79320
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody l... OMIM:226300
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Neutropenia, Thrombocytopenia, Ane... ORPHA:289916
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Extramedullary hematopoiesis, Cranial hyperostosis, Increased bone mineral density... OMIM:259720
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Albers-Schönberg Osteopetrosis
Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology, Generalized osteosclerosis, Anemia ORPHA:53
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia OMIM:179800
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Anemia, Increased circulating IgA level, Thrombocytosis, Elevated circul... OMIM:615934
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... OMIM:604290
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hypertriglyceridemi... OMIM:615924
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Thrombocytopenia, Intent... OMIM:254900
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... ORPHA:540
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Ataxia, Decreased circulating IgG level, Osteopenia, Hypocholesterolemia, Decrea... OMIM:212065
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:169154
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... ORPHA:93325
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramid... OMIM:213600
X-Linked Agammaglobulinemia
Hypocalcemia, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous absc... ORPHA:47
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia OMIM:103580
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased p... OMIM:614307
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Diarrhea 13
Hypoalbuminemia OMIM:620357
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Osteopenia, Reduced natural killer cell count, Decreased lymphocyte proliferation in resp... ORPHA:221139
Pseudohypoparathyroidism Type 1A
Involuntary movements, Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic ... ORPHA:79443
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... OMIM:617994
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Bradykinesia, Tremor, R... OMIM:613280
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia ORPHA:163693
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Aceruloplasminemia
Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c... ORPHA:48818
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Phenylketonuria
Osteopenia, Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia ORPHA:716
C3 Glomerulopathy
Paraproteinemia, Elevated circulating creatinine concentration, Central serous chorioretinopathy,... ORPHA:329918
Celiac Disease, Susceptibility To, 1
Rickets, Decreased circulating IgA level, Thrombocytosis, Hypocalcemia, Macrocytic anemia, Iron d... OMIM:212750
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Macular degeneration, Pigmentary retinopathy, Chorea, Dysmetria, Tremo... OMIM:164500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia OMIM:617056
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Osteomal... ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bone cyst, Os... ORPHA:93160
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, C... ORPHA:79444
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park... OMIM:260300
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst ORPHA:2668
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia OMIM:608104
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... ORPHA:101110
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hemolytic anemia, Hyper... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hemolytic anemia, Hyper... ORPHA:529799
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Hypocalcemia, Sparse bone tr... OMIM:264700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Microangiopathic hemolytic anemia, Eleva... OMIM:235400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Osteopenia, Increased circulating IgE level, Decreased circulati... ORPHA:98813
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hyperammonemia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Dystonia, Cho... ORPHA:79312
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Beta-Ketothiolase Deficiency
Ataxia, Spasticity, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Extrapyramidal d... ORPHA:134
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen OMIM:617872
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Hemiplegia... OMIM:243700
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Thrombocytopenia, Hypertonia, Anemia, Dystonia, Chronic neutropenia OMIM:619302
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Spasticity, Spastic tetraparesis, Hepatosplenomegaly, Spastic dip... OMIM:619487
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Spasticity, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemi... OMIM:618476
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Rhabdoid Tumor
Cerebral palsy, Hemiplegia, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:276435
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... OMIM:242860
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Chorioretinal hypopigmentation, Optic atrophy, Bone marrow hypocellularity, Leuk... OMIM:617303
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Thrombocytopenia, Dystonia, Spastic tetraplegia, Chronic neutropenia OMIM:619301
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho... ORPHA:1667
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Abnormal optic nerve morphology, Tremor, Rigidity, Macular dystrophy, ... ORPHA:33445
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia, Hand tremor, Periodic paralysis OMIM:609153
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor, Elevated circulating creatine kinase concentration OMIM:614018
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Increased circulating IgE level, Hypocalcemia, Autoimmune hemoly... ORPHA:37042
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Ataxia, Hypertriglyceridemia OMIM:617575
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis OMIM:229050
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Increased circulating Interferon-alpha concentration, Thrombocyto... OMIM:615010
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spasticity, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Spastic hemiparesis,... ORPHA:20
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Optic atrophy, Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly... OMIM:615688
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro... OMIM:159550
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... OMIM:243150
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ... OMIM:301074
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia OMIM:618387
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Optic atrophy, Resting tremo... ORPHA:401768
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Retinopathy, Aplasia/Hypoplasia of the fovea ORPHA:2611
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce... ORPHA:713
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Osteopenia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocho... ORPHA:14
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Reduced nat... OMIM:608233
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci... OMIM:617916
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Tremor, Increased circulating IgG level, Frequent falls, Choreoathetosis ORPHA:206594
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Spasticity, Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell a... OMIM:618213
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Alg12-Cdg
Hypoalbuminemia, Abnormal circulating IgM level, Hypocholesterolemia, Complete or near-complete a... ORPHA:79324
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin... OMIM:606159
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Decreased circulating ceruloplasmi... OMIM:277900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Decreased circulating complement C3 concentration,... ORPHA:567544
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c... ORPHA:36234
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Increased circulating Ig... ORPHA:29073
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Decreased circulating IgA level, Hypocalcemia, Retinal detachmen... OMIM:607143
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Adamantinoma
Hypercalcemia ORPHA:55881
Cystathioninuria
Cystathioninuria, Cystathioninemia, Tremor ORPHA:212
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Decreased circulating complement C4 ... ORPHA:90060
Hypotonia-Cystinuria Syndrome
Cystinuria, Hypocalcemia OMIM:606407
Coach Syndrome 2
Elevated circulating creatinine concentration, Oculomotor apraxia, Chorioretinal coloboma OMIM:619111
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Calvarial hyperostosis, Epiphyseal stippling, Neonatal epiphyse... OMIM:101800
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochok... ORPHA:254881
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Myopathy With Extrapyramidal Signs
Optic atrophy, Extremely elevated creatine kinase, Chorea, Leukocytosis, Splenomegaly, Tremor, El... OMIM:615673
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Spasticity, Osteopenia, Hypocalcemia, Splenomegaly, Hypokalemia, Hy... OMIM:617913
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomotor apraxia, Rod-cone... OMIM:614867
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Oromandibu... OMIM:617284
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favo... ORPHA:314632
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification OMIM:602361
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons... OMIM:619381
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... ORPHA:158048
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo... ORPHA:86816
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro... OMIM:222470
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Splenomegaly, Hypocalcemia, Tremor, Hypophosphatemia, Osteopetrosis, Ane... ORPHA:667
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Decreased circ... OMIM:618183
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Non-Functioning Paraganglioma
Hypertensive retinopathy, Hypercalcemia, Vocal cord paralysis, Tremor ORPHA:94080
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re... ORPHA:572
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Fre... OMIM:159950
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Bone marrow hypocellularity, Tetraparesis, Pancytopenia, Leukopenia, Hypocalcemia,... ORPHA:2785
Spinocerebellar Ataxia 18
Dysmetria, Tremor, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Urocanic Aciduria
Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentration, Truncal ataxia ORPHA:210128
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Hypophosphatasia
Anemia, Craniosynostosis, Hypercalcemia ORPHA:436
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia OMIM:613070
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Osteopenia, Gait ataxia, Dysmetria, Tremor, Apraxia OMIM:617810
Cystinosis
Aminoaciduria, Rickets, Retinopathy, Hypokalemia, Hypophosphatemia, Abnormal pyramidal sign ORPHA:213
Dent Disease 2
Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Paternal Uniparental Disomy Of Chromosome 1
Myoclonus, Episodic hemolytic anemia, Increased blood urea nitrogen, Macular dystrophy, Craniosyn... ORPHA:251004
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Brucellosis
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Chorea, Chorioretinitis, Anemia... ORPHA:1304
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Tremor, Rigidity, Parkinsonism, Hyperphenylalaninemia, Limb hypertonia, Hypertonia,... OMIM:261640
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia OMIM:612287
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,... ORPHA:90363
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Increased circulating interleukin 6 concentration, Elevated circulating creati... ORPHA:340
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Rigi... ORPHA:391417
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Bradykinesia, Limb dystonia, Tremor, Elevated circulating creat... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Increased serum py... OMIM:619405
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level, Tremor, Fasciculations ORPHA:99965
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Pearson Syndrome
Ataxia, Bone marrow hypocellularity, Pigmentary retinopathy, Hypomagnesemia, Pancytopenia, Hypoca... ORPHA:699
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Bone marrow hypocellularity, Decreased circulating IgG level, Hep... ORPHA:505248
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Retinal vas... OMIM:618969
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Bradykinesia... ORPHA:454887
Interstitial Lung And Liver Disease
Aminoaciduria, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Anemia OMIM:615486
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... OMIM:613135
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r... ORPHA:157215
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Propionic Acidemia
Hyperglycinuria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Limb hypertonia, Neutropenia, Thr... OMIM:606054
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... OMIM:241530
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia OMIM:612286
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618987
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Oculopharyngodistal Myopathy 3
Ataxia, Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration OMIM:619473
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Myoclonus, Abscess, Eosinophilia, Neutropenia, Atax... OMIM:615816
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, E... OMIM:251880
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:90117
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab... ORPHA:2298
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Spasticity, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia OMIM:617093
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, El... OMIM:617388
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Leukocytosis, Lung abscess, Anemia, Liver abscess ORPHA:67
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ... ORPHA:100024
Timothy Syndrome
Hypocalcemia OMIM:601005
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hypocalcemia, Neutropenia, Abnormal bone ossification, Anemi... ORPHA:175
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Pigmentary retinopathy, Frequent falls, Hypocalcemia ORPHA:746
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Aminoaciduria OMIM:618913
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Syndromic Diarrhea
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Ab... ORPHA:84064
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign OMIM:610245
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ... ORPHA:1578
Spastic Tetraplegia And Axial Hypotonia, Progressive
Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype... OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia, Abnormality of extrapyram... ORPHA:79233
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis ORPHA:729
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Myoclonus, Elevated circulating creatine kinase concentration, Cl... OMIM:619055
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Increased circulating IgE level, Hypernatremia OMIM:615508
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Hemiplegia, Tremor OMIM:182410
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Spasticity, Hyperalaninemia, Chorioretinal hyperpigmentation OMIM:618329
Juvenile Nephropathic Cystinosis