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

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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 Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 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
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... ORPHA:94090
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elev... OMIM:308240
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic ... ORPHA:36913
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Reduced bone mineral density, Hypocalcemia, Splenomegaly ORPHA:172
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Laryngeal dystonia, Myoclonic... ORPHA:94089
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy... OMIM:266130
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Sterile abscess, Throm... OMIM:604416
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Limb ataxia, Elevated circulating creatine kinase concentration, Truncal ataxia, Chorea, ... OMIM:208920
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Babinski ... ORPHA:64753
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, H... ORPHA:507
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Lymphopenia, Decreased circulating IgG level, Hy... ORPHA:90362
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Increased bone mineral density, Retinal degeneration, Osteopenia, Hydroxyproli... OMIM:239000
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Extrapyramidal muscular rigidity, Oculogyric crisis, ... ORPHA:94093
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Papilledema, Thickened cortex of long bones, Retina... OMIM:127000
Malignant Hyperthermia, Susceptibility To, 1
Rigidity, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased serum creatinine, Tremor, Decreased circulating antibo... OMIM:617744
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level,... OMIM:619752
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... OMIM:619313
Primary Membranoproliferative Glomerulonephritis
Decreased serum complement C3, Hypoalbuminemia, Drusen ORPHA:54370
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Spastic dysarthria, Hypercholesterolemia ORPHA:94124
Thrombocythemia 3
Thrombocytosis OMIM:614521
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Thrombocythemia 2
Thrombocytosis OMIM:601977
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Osteopetrosis, Faci... OMIM:259700
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decre... OMIM:243700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Glutathionuria
Tremor OMIM:231950
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Angioid streaks of the fundus, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Cal... OMIM:211900
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Optic atrophy, Generalized osteosclerosis, Anemia ORPHA:53
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Increased circu... ORPHA:443811
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... ORPHA:2442
Alg6-Cdg
Ataxia, Retinal degeneration, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Hypoal... ORPHA:79320
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia OMIM:179800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Cortical myoclonus, Reduced bone mineral density, Optic atrophy, Wr... ORPHA:428
Osteopetrosis, Autosomal Recessive 5
Hypertonia, Hypocalcemia, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedull... OMIM:259720
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hy... OMIM:226300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Elevated circulating C-reactive protein concentrati... OMIM:615934
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Saccharopinuria
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Spastic diplegia, Tremor, Hyperlysinur... ORPHA:3124
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Immunodeficiency 43
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... ORPHA:93324
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Agammaglobulinemia, Anemia, Thrombocytopenia, Recurrent cutaneous absc... ORPHA:47
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Retinal degener... OMIM:604290
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification OMIM:103580
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis OMIM:612462
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Ataxia, Decreased circulating IgG level, Dysmetria, Rod-cone dys... OMIM:212065
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Hyperammonemia, Chorea, Optic atrophy, Choreoathetosis, Neutropenia, Anem... ORPHA:289916
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity,... ORPHA:216873
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... OMIM:615924
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Papilledema, Hypocalcemic tetany, Retinal calcificati... ORPHA:93325
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hypocalcemia, Osteopetrosis, Rigidity, Optic atrophy, Spasticity, Spastic tetraplegia OMIM:618476
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Reduced bone mineral density, E... ORPHA:79443
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Abnormal ... OMIM:618048
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... OMIM:613280
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Intention tremor, Hemiparesis, Pigmentary retinopathy, Tremor, Elevat... OMIM:614307
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevated circu... OMIM:619632
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Yellow/white lesions of the retina,... ORPHA:329918
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Calvarial osteosclerosis, Anemia, Decreased skull ossification OMIM:244460
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone structure, Osteolysis, Coa... ORPHA:93160
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Retinal degeneration, Limb ataxia, Macular ... ORPHA:48818
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Macular degeneration, Babinski sign, Pigmentary retinop... OMIM:164500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Bone cyst, Hypercalcemia ORPHA:2668
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Ectopic ossification, Myoclonic... ORPHA:79444
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Ataxia, Lymphopenia, Hypoalbuminemia OMIM:617575
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Hypocalcemia, Ataxia, Osteoporosis, Iron deficiency anemia, Macr... OMIM:212750
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration, Cir... OMIM:607665
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia, Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased serum complement factor H, Hyperlipidemia, Decreased serum complement factor B, Increas... OMIM:235400
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Aicardi-Goutieres Syndrome 9
Hypertonia, Lower limb hypertonia, Spastic diplegia, Hepatosplenomegaly, Chorioretinal atrophy, O... OMIM:619487
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Tremor, Elevated circulating creatinine concentrat... OMIM:274150
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Hypercalcemia, Anemia, Thrombocytopenia ORPHA:69077
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Tremor, Limb dystonia, Dystonia,... OMIM:277900
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529808
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Chorioretinal hypopigmentation, Optic atrophy, Increased circulating Ig... OMIM:617303
Galloway-Mowat Syndrome 6
Motor stereotypy, Hypoalbuminemia OMIM:618347
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Ataxia, Neutropenia in presence of ant... OMIM:613179
Myopathy, Spheroid Body
Tremor, Elevated circulating creatine kinase concentration OMIM:182920
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic atrophy, Tremor, Spa... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia OMIM:618387
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Rigidity, Dystonia OMIM:615010
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Beta-Ketothiolase Deficiency
Ataxia, Leukocytosis, Hyperammonemia, Extrapyramidal dyskinesia, Thrombocytosis, Spasticity, Hype... ORPHA:134
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopen... ORPHA:79312
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Spasticity, Aplasia/Hypoplasia of the macula... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hemiplegia, Ataxia, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocyto... OMIM:615688
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... ORPHA:289157
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... OMIM:612922
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Elevated circulating creatine kinase concentration, Fasciculations ORPHA:276435
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Ocular albinism, Splenomegaly, Hepatosplenomegaly, Thrombocytop... OMIM:608233
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets OMIM:193100
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Thrombocytopenia, Dystonia OMIM:619301
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... OMIM:159550
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Linear Verrucous Nevus Syndrome
Retinopathy, Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Reduced bone mineral density ORPHA:2611
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... OMIM:261640
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Anemia, Thrombocytopenia, Dystonia OMIM:619302
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level, Frequent falls, Tremor, Choreoathetosis ORPHA:206594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... OMIM:612925
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus OMIM:614018
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Periostosis, Hypoalbuminemia OMIM:614441
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Leukocytosis, Hyperammonemia, Spastic hemiparesis, Leukopenia, Myoclonus, Thrombocytosis,... ORPHA:20
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Ataxia, Abnormality of retinal pigmentation, H... ORPHA:14
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia, Decreased hemoglobin concentration, Retinal dystrophy, Hemolytic anem... ORPHA:713
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... ORPHA:36234
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... OMIM:600802
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Fanconi Renotubular Syndrome 2
Osteopenia, Hypophosphatemia, Rickets, Generalized aminoaciduria OMIM:613388
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Idiopathic Non-Lupus Full-House Nephropathy
Decreased serum complement C3, Complement deficiency, Decreased serum complement C4, Elevated cir... ORPHA:567544
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Splenomegaly, Generalized aminoaciduria, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Decreased circulating antibody level, Retinal detachment OMIM:607143
Adamantinoma
Hypercalcemia ORPHA:55881
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Optic atrophy OMIM:210000
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Optic atrophy, Neonatal epiphyseal stippling, Hyperphosphatemia, Epiphyse... OMIM:101800
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Poems Syndrome
Increased circulating antibody level, Sclerosis of skull base, Sclerosis of foot bone, Polycythem... ORPHA:2905
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Osteopenia, Hyperproteinemia, Increased circulatin... ORPHA:29073
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Rod-cone dystrophy, Retinal dystrophy, Tremor, Elevated levels of phytanic aci... OMIM:614867
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Osteopetrosis, Leukopenia, Elevated circulating creatine kinase concentration, Tetr... ORPHA:2785
Cystathioninuria
Tremor, Cystathioninemia, Cystathioninuria ORPHA:212
Neurodegeneration With Brain Iron Accumulation 3
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... OMIM:606159
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Cystinosis
Motor stereotypy, Hypophosphatemia, Hypokalemia, Aminoaciduria, Retinopathy, Abnormal pyramidal s... ORPHA:213
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalb... OMIM:618183
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Neutropenia, Abnormal T cell subset distrib... ORPHA:158048
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Coach Syndrome 2
Oculomotor apraxia, Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Timothy Syndrome
Hypocalcemia OMIM:601005
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Sp... ORPHA:667
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculomotor apraxia,... OMIM:612716
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia, Decreased skull ossification OMIM:602361
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, ... ORPHA:86816
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia OMIM:254900
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Incoordination OMIM:614947
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... ORPHA:572
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... OMIM:619381
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsiness, Leukocyto... OMIM:615673
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Urocanic Aciduria
Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentration, Gait ataxia ORPHA:210128
Hypophosphatasia
Anemia, Hypercalcemia, Craniosynostosis ORPHA:436
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Brucellosis
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Leukopenia, In... ORPHA:1304
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... ORPHA:88673
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612287
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular ... ORPHA:251004
Non-Functioning Paraganglioma
Tremor, Hypertensive retinopathy, Vocal cord paralysis, Hypercalcemia ORPHA:94080
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:300555
Diffuse Alveolar Hemorrhage
Leukocytosis, Decreased serum complement C3, Decreased serum complement C4, Elevated circulating ... ORPHA:90060
Trichohepatoenteric Syndrome 1
Splenomegaly, Increased mean platelet volume, Thrombocytosis, Hypermethioninemia, Abnormality of ... OMIM:222470
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Optic atrophy, Microcytic anemia, Spasticity,... OMIM:251900
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thro... ORPHA:466650
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Rigidity, Optic atr... ORPHA:391417
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Aminoaciduria, Osteomalacia, Rickets OMIM:134600
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Elevated circulating creatinine ... ORPHA:340
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... OMIM:242150
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Decr... ORPHA:90363
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... OMIM:300400
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Elevated circulating creatine kinase concentration, Limb fasciculations ORPHA:90117
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Decreased circulating IgG level, Leukopenia, Hepatosplenomeg... ORPHA:505248
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia, Fasciculations, Tremor ORPHA:99965
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Elevated circulatin... OMIM:617013
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Retinal vasc... OMIM:618969
Pearson Syndrome
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Ataxia, R... ORPHA:699
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Dystonia, Neutropenia OMIM:617248
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Osteopetrosis, De... OMIM:612301
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Osteopenia, Optic atrophy, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612286
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:313200
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Ataxia-Telangiectasia
Decreased circulating IgA level, Ataxia, Lymphopenia, Decreased circulating IgG level, Progressiv... OMIM:208900
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Abnormal circulating fatty-... ORPHA:2298
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Optic atrophy OMIM:619470
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Increased... ORPHA:157215
Interstitial Lung And Liver Disease
Aminoaciduria, Hyperammonemia, Intraalveolar phospholipid accumulation, Thrombocytosis, Anemia OMIM:615486
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Spasticity OMIM:300983
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:619473
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... OMIM:615559
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Rickets, Thin bony cor... OMIM:264700
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolys... ORPHA:100024
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... OMIM:233910
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Hypocalcemia, Frequent falls, Pigmentary retinopathy ORPHA:746
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:617388
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Thin bony cortex, Rickets OMIM:600081
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hyperkalemia, Hand tremor OMIM:609153
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Hypocalcemia, Abnormality of retinal pigmentation, Abnormally ossifie... ORPHA:175
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean pla... ORPHA:84064
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Propionic Acidemia
Hyperglycinuria, Hyperammonemia, Limb hypertonia, Osteoporosis, Pancytopenia, Hyperglycinemia, Ne... OMIM:606054
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria OMIM:618913
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria, Rickets OMIM:615605
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Marburg Hemorrhagic Fever
Increased circulating antibody level, Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Eleva... ORPHA:99826
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Optic atrophy, Tremor, Dystonia ORPHA:329284
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets OMIM:612089
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Pancytopenia, Tremor, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemi... OMIM:251100
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Hyperkinetic mov... ORPHA:297
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Primary Biliary Cholangitis
Increased circulating IgA level, Abnormal circulating lipid concentration, Osteoporosis, Conjugat... ORPHA:186
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Abnormality of extrapyramidal motor func... ORPHA:79233
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbumine... ORPHA:85443
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Sneddon Syndrome
Hemiplegia, Tremor, Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 23
Ataxia, Cortical myoclonus, Lymphopenia, Eosinophilia, Myoclonus, Abscess, Increased circulating ... OMIM:615816
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Myoclonus, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Sp... OMIM:619055
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Combined Oxidative Phosphorylation Deficiency 55