Gene Summary

Name:
cathepsin A
Synonyms:
PPCA,  Ppgb

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 erythrocyte cell number Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.05×10-10
tremors Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.32×10-15
abnormal hindlimb morphology Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.70×10-08
increased mean corpuscular volume Ctsatm2b(EUCOMM)Hmgu HOM Early adult 9.76×10-09
increased mean corpuscular hemoglobin Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.72×10-08
decreased prepulse inhibition Ctsatm2b(EUCOMM)Hmgu HOM Early adult 4.52×10-09
thrombocytopenia Ctsatm2b(EUCOMM)Hmgu HOM Early adult 9.15×10-13
abnormal head morphology Ctsatm2b(EUCOMM)Hmgu HOM Early adult 5.91×10-07
narrow eye opening Ctsatm2b(EUCOMM)Hmgu HOM Early adult 9.43×10-11
enlarged spleen Ctsatm2b(EUCOMM)Hmgu HOM Early adult 0.00
increased spleen weight Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.85×10-35
abnormal forelimb morphology Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.70×10-08
decreased startle reflex Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.07×10-05
decreased hemoglobin content Ctsatm2b(EUCOMM)Hmgu HOM Early adult 6.35×10-06
abnormal gait Ctsatm2b(EUCOMM)Hmgu HOM Early adult 4.95×10-05
increased monocyte cell number Ctsatm2b(EUCOMM)Hmgu HOM Early adult 4.10×10-06
abnormal locomotor behavior Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.72×10-07
abnormal startle reflex Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.53×10-05
increased heart weight Ctsatm2b(EUCOMM)Hmgu HOM Early adult 7.57×10-05
decreased exploration in new environment Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.76×10-05
decreased hematocrit Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.27×10-05
hypoactivity Ctsatm2b(EUCOMM)Hmgu HOM Early adult 4.37×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ctsa 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.

The table below shows human diseases associated to Ctsa by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Galactosialidosis
Coarse facial features, Hepatosplenomegaly, Visceromegaly, Nonimmune hydrops fetalis OMIM:256540
Galactosialidosis
Coarse facial features ORPHA:351

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Thrombocytopenia, Myoclonus, Anemia, Hepatosplenomegaly OMIM:610539
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly, Dista... OMIM:616719
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Reticulocytosis, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Hemolytic anemia, Loss of ability to walk, Rigidity OMIM:615010
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign OMIM:300660
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Ankle clonus, Pancytopenia, Thrombocytopenia,... OMIM:159550
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Apolipoprotein A-I Deficiency
Hemiplegia/hemiparesis, Anemia, Splenomegaly, Abnormality of the liver, Lymphadenopathy ORPHA:425
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly, Spasticity OMIM:610329
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Abnormal heart morphology, Abnormality of extrapyramidal motor func... ORPHA:79262
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Spastic paraparesis, Dementia, Ataxia, Pancytopenia, Thromb... OMIM:231000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Finger s... ORPHA:71289
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Myoclonus, Hyperac... OMIM:615924
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia OMIM:222100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Broad thumb, Lymphopenia, Neutropenia, C... OMIM:612541
Malaria
Thrombocytopenia, Gait imbalance, Cognitive impairment, Anemia ORPHA:673
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia, Neutropenia, Pancytopenia, Clinodactyly, Syndactyly, Increased m... ORPHA:2169
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Conjunctivitis, Jaundice, Anemia, ... OMIM:603552
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Abnormal eyelid morphology, Spastic ataxia, Limb ataxia, Di... ORPHA:251282
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Myoclonus, Intention tremor OMIM:254900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Rigidity, Frequent falls, Violent behavior, Chorea, Gait disturbance... ORPHA:216873
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria, Hypertension OMIM:613677
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hemipare... ORPHA:444463
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Anxiety, Myoclonus, Upper motor neuron dysfunctio... ORPHA:401901
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Short finger, Epicanthus, Tapered finger, Short toe, Brachydactyly OMIM:610680
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatit... ORPHA:79312
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5... OMIM:137950
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Gait disturbance, Ataxia, Triangular face, Fine hair ORPHA:1174
Aicardi-Goutieres Syndrome 7
Dystonia, Spastic tetraparesis, Thrombocytopenia, Hepatomegaly, Irritability, Splenomegaly OMIM:615846
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Brachydac... OMIM:617475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Neutropenia, Thrombocytopenia, Hepatomegaly, Hemiplegia/hemiparesis, ... ORPHA:289916
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Flat face OMIM:614872
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:618224
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Flat face OMIM:614859
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Persistence of hemoglobin F, ... ORPHA:124
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hypertonia, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia, Anemia OMIM:619302
Combined Saposin Deficiency
Hyperkinetic movements, Hepatomegaly, Myoclonus, Babinski sign, Splenomegaly, Fasciculations OMIM:611721
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Flat face, Abnormal facial shape, Intestinal lymphangiectasia, Pulmonary lymphangiect... OMIM:616006
Aicardi-Goutieres Syndrome 4
Dystonia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Spasticity OMIM:610333
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, ... ORPHA:27
Glutathionuria
Tremor OMIM:231950
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Myoclonus, Splenomegaly ORPHA:139406
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinitis Pigmentosa 59
Hepatomegaly, Cystoid macular edema, Elevated hepatic transaminase, Spasticity OMIM:613861
Rft1-Cdg
Hepatomegaly, Ataxia ORPHA:244310
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Myocl... OMIM:615362
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sandhoff Disease
Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Motor deterioration, Splenomegaly ORPHA:796
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia OMIM:166990
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Flat face, Visceromegaly, Pancreatic islet-cell hyperplasia OMIM:601165
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Anemia, Abnormality of f... ORPHA:1802
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Ptosis, Parkinsonism, Limb dysto... ORPHA:101109
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Dementia, Ataxia, Spasticity OMIM:615889
Gaucher Disease, Type Ii
Progressive neurologic deterioration, Oculomotor apraxia, Thrombocytopenia, Hepatomegaly, Anemia,... OMIM:230900
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Polyuria, Hydronephrosis OMIM:304900
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Long thumb, Anemia, Leukopenia, Bone marrow hypocellula... OMIM:619151
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Eyelid myoclonus, Ataxia, Thrombocytopenia, Pancytopenia, Hepatomegaly, Jau... OMIM:613839
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Dystonia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hep... OMIM:618278
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Hammertoe OMIM:615048
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Flat face, Pleural effusion, Pedal edema, Facial edema, Chylotho... OMIM:265300
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Cognitive impairment, Rigi... OMIM:615528
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hypertonia, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Irritability, Leuk... OMIM:229050
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Mental Retardation, Autosomal Recessive 48
Self-mutilation, Inability to walk, Kinetic tremor, Aggressive behavior, Blepharophimosis, Narrow... OMIM:616269
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Flat face, Facial edema, Edema OMIM:618154
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Nephrocalcinosis, Nephrolithi... OMIM:143880
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Irritability, Anemi... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Flat face, Waddling gait ORPHA:156728
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Achondrogenesis, Type Ib
Polyhydramnios, Flat face, Hydrops fetalis, Edema OMIM:600972
Sialidosis Type 2
Tremor, Hydrops fetalis, Pedal edema, Ataxia, Hepatomegaly, Ascites, Splenomegaly, Coarse facial ... ORPHA:87876
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Ventricular septal defect, Upslanted palpebral fissure, Thrombocytopenia, ... ORPHA:261250
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Anxiety OMIM:141500
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Cognitive impair... OMIM:615768
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Abnormal pyramidal sign, Abnormal facial shape, Abnormality of extrapyramidal motor... OMIM:300884
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Al-Raqad Syndrome
Inability to walk, Flat face, Unsteady gait OMIM:616459
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Flat face, Round face ORPHA:2536
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Synda... OMIM:615631
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Cirrhosis, Spastic paraparesis, Abnormality of extrapyramidal motor function, P... OMIM:613280
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Congenital Toxoplasmosis
Thrombocytopenia, Hepatomegaly, Jaundice, Cardiomegaly, Anemia, Ascites, Cognitive impairment, Ly... ORPHA:858
Multiple Sulfatase Deficiency
Flat face, Ataxia, Hepatomegaly, Splenomegaly, Periorbital edema, Coarse facial features, Spasticity OMIM:272200
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, A... ORPHA:811
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Thyrocerebrorenal Syndrome
Thrombocytopenia, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Hypertonia, Thrombocytopenia, Spastic tetraplegia, Adducted thumb OMIM:601815
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Writer's cramp, Torticollis, Anxiety, Myoclonus OMIM:159900
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Tremor, Abnormal mitral valve morphology, Gait disturbance,... ORPHA:1192
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Genu valgum, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Recurrent respiratory infections, Hypertension, Pulmonary fibrosis ORPHA:2111
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Involuntary movements, Rigidity, Parkinsonism with favorable respo... ORPHA:240103
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Short thumb, Increased mea... OMIM:612562
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Emery-Nelson Syndrome
Flat face, Low posterior hairline ORPHA:1927
Thoracomelic Dysplasia
Flat face, Gait disturbance, Round face, Low posterior hairline ORPHA:1803
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Hand And Foot Deformity With Flat Facies
Flat face OMIM:139750
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Wolfram Syndrome 1
Tremor, Megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocytopenia, Ptosis, Limited mob... OMIM:222300
Renal Tubular Dysgenesis
Anuria, Hypotension, Renotubular dysgenesis, Abnormality of the urinary system, Pulmonary hypoplasia OMIM:267430
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity... ORPHA:306692
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Ventricular septal defect, Abnormal pyramidal sign, Ataxia, Unsteady gait... OMIM:614947
Free Sialic Acid Storage Disease
Hydrops fetalis, Gait disturbance, Abnormal pyramidal sign, Oculomotor apraxia, Abnormal facial s... ORPHA:834
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Highly arched eyebrow, Abnormal facial shape OMIM:618522
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Ataxia, Thr... ORPHA:381
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Aggressive behavior, Rigidity, Apraxia, Frontotemporal dementia, Br... OMIM:612953
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Duplication of thumb phalanx, Anemia, Short thumb, Bone marrow hy... OMIM:616435
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephrit... OMIM:161900
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Dementia, Speech apraxia, Gait distur... ORPHA:454887
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait, Downslanted palpebral fissures, Long fingers OMIM:617557
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dystonia, Hypertonia, Irritability, Myoclonus, Chor... OMIM:261630
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Dystonia, Spastic tetraparesis ORPHA:67046
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Tremor, Gait ataxia, Poor motor coordination, Hepatic steatosis, Abnormal pyramidal si... ORPHA:363400
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Systemic Primary Carnitine Deficiency
Hepatomegaly, Clumsiness, Elevated hepatic transaminase ORPHA:158
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase OMIM:614582
Intellectual Developmental Disorder, X-Linked 30
Flat face, Hyperactivity OMIM:300558
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Wt Limb-Blood Syndrome
Radioulnar synostosis, Short phalanx of finger, Joint contracture of the 5th finger, Thrombocytop... OMIM:194350
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Alopecia, Spasticity OMIM:215100
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Recurrent urinary tract infections,... OMIM:248250
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Polyhydramnios, Splenomegaly OMIM:618541
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Achondrogenesis
Polyhydramnios, Flat face, Hydrops fetalis ORPHA:932
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Emotional lability, Hepatomegaly, Irritability, Splenomegaly OMIM:201100
Mevalonic Aciduria
Triangular face, Ataxia, Splenomegaly ORPHA:29
Babesiosis
Hemolytic anemia, Thrombocytopenia, Clinodactyly of the 5th toe, Hepatomegaly, Jaundice, Leukopen... ORPHA:108
Proximal 16P11.2 Microduplication Syndrome
Tremor, Sparse eyebrow, Flat face, Abnormality of the hairline, Attention deficit hyperactivity d... ORPHA:370079
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Abnormal dense granules, Impaired neutrophil bactericidal activity, Gai... OMIM:214500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Apat... ORPHA:240085
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Hypercalciuria, Prolonged QT interval, Polydipsia ORPHA:251274
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Marfanoid Mental Retardation Syndrome, Autosomal
Flat face OMIM:248770
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Hypochromic microcytic anemia, Sideroblastic anemia, Dysmetria, Intention tre... OMIM:301310
Wilson Disease
Acute hepatitis, Cirrhosis, Clumsiness, Aggressive behavior, Difficulty walking, Hepatic steatosi... ORPHA:905
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Paresthesia ORPHA:2398
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Spastic diplegia, Thrombocytopenia, Hepatomegaly... ORPHA:290
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Thyrocerebroretinal Syndrome
Thrombocytopenia, Slurred speech, Myoclonus, Ataxia OMIM:274240
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hemolytic anemia, Hypertonia, Ataxia, Hepatomegaly, Jaundice, Splenomegaly, Sp... OMIM:608885
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Round face, Ataxia OMIM:618951
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine... ORPHA:567548
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Atrial septal defect, Ventricular septal defect, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
S├ęzary Syndrome
Tremor, Abnormal lymphocyte morphology, Abnormal facial shape, Hepatomegaly, Nail dystrophy, Edem... ORPHA:3162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Achondrogenesis Type 1B
Polyhydramnios, Flat face, Hydrops fetalis ORPHA:93298
Blepharocheilodontic Syndrome 2
Flat face, Distichiasis, Facial asymmetry OMIM:617681
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Rhabdoid Tumor
Hemiplegia, Neoplasm of the liver, Thrombocytopenia, Irritability, Anemia, Cerebral palsy, Lympha... ORPHA:69077
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Thick hair, Hypertonia, Abnormal facial shape, Ataxia, ... OMIM:613489
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Head tremor, Action tremor, Progressive cerebellar ... OMIM:604326
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Neuraminidase Deficiency
Bone-marrow foam cells, Hydrops fetalis, Vacuolated lymphocytes, Slurred speech, Facial edema, He... OMIM:256550
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Achondrogenesis Type 1A
Polyhydramnios, Flat face, Hydrops fetalis ORPHA:93299
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Flat face, Hepatitis, Ascites, Splenomegaly, Coarse facial features ORPHA:584
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Hepatosplen... ORPHA:101028
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Hypertension, Glycosur... OMIM:618913
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Trisomy X
Tremor, Upslanted palpebral fissure, Epicanthus, Anxiety, Cognitive impairment, Clinodactyly of t... ORPHA:3375
Craniofacial-Deafness-Hand Syndrome
Flat face OMIM:122880
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Flat face, Round face OMIM:132450
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal... OMIM:607364
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Wiedemann-Steiner Syndrome
Flat face, Long eyelashes, Synophrys, Thick eyebrow, Broad-based gait OMIM:605130
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Polydipsia, Epistaxis, Hypertension ORPHA:403
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Abnormal facial shape, Ataxia, Triangular face, Long... ORPHA:544254
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Spinocerebellar Ataxia 48
Tremor, Dystonia, Gait ataxia, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Parkinsonism, Ba... OMIM:618093
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Bone mar... ORPHA:86839
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Chorea, Action tremor, Bradykinesia, Irritability, Anxiety, Rigidity OMIM:606438
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Lymphedema, Neonatal cholestatic liver disease, Hepatom... OMIM:214900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Steppage gait, Hammertoe, Mental deterioration, Spasticity OMIM:609260
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Aggressive behavior, Dementia, Abnormal pyramidal sign, Resting ... OMIM:617225
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhag... ORPHA:340
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Flat face, Abnormal facial shape OMIM:266510
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormal facial shape, Triangular face, Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Aregenerative Anemia
Erythroid hypoplasia, Dementia, Fatigable weakness of skeletal muscles, Decreased proportion of C... ORPHA:101096
Apparent Mineralocorticoid Excess
Renal insufficiency, Polydipsia, Hypertension, Abnormal urine sodium concentration, Nephrocalcinosis ORPHA:320
Aceruloplasminemia
Hypochromic microcytic anemia, Tremor, Dystonia, Gait ataxia, Involuntary movements, Akinesia, Ap... ORPHA:48818
Partington Syndrome
Lower limb spasticity, Focal dystonia, Limb dystonia, Triangular face OMIM:309510
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Dystonia, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Hirsutism, Dysmetria, Coarse facial features OMIM:610185
Pediatric-Onset Graves Disease
Tremor, Abnormal eyelid morphology, Hyperkinetic movements, Neutropenia in presence of anti-neutr... ORPHA:525731
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Elevated hepatic iron c... ORPHA:300298
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Dystonia, Gait ataxia, Apraxia, Gait disturbance,... ORPHA:3095
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Dystonia, Choreoathetosis, Hypertonia, Ataxia, Brad... OMIM:261640
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Clumsiness, Incoordination, Speech apraxia, Gait disturbance... ORPHA:79239
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Myoclonus, Ataxia, Spasticity OMIM:612015
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Metaphyseal dysplasia, Diaphyseal dysplasia, Hepatomegaly OMIM:614727
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dementia, Chorea, Poor fine motor coordination, Ataxia, Motor deter... ORPHA:79263
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Abnormal facial shape, Hepatomegaly, Prolonged neonatal... OMIM:616828
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Pleural effusion, Oligur... ORPHA:188
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Spasticity OMIM:300983
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Galactosemia
Postural tremor, Dystonia, Lethargy, Cirrhosis, Abnormality of extrapyramidal motor function, Spe... ORPHA:352
Peroxisome Biogenesis Disorder 5A (Zellweger)
Round face, Palpebral edema, Flat face, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, ... OMIM:614866
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Tremor, Hemolytic anemia, Dystonia, Cholecystitis, Cholelithiasis, Norm... OMIM:615512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Tremor, Biliary tract abnormality, Cholestasis, Hepatomegaly ORPHA:79095
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Pulmonary arterial ... OMIM:613845
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Myoclonus, Anemia OMIM:614946
Diffuse Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Dysphagia, Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congest... ORPHA:220393
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Rigidity, Dementia, Speech apraxia, Abnormal pyramidal ... ORPHA:99750
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Hypertonia, Methemoglobinemia OMIM:250800
Hodgkin Lymphoma
Hepatomegaly, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:98293
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251100
Distal Monosomy 7Q36
Large face, Flat face, Hypertonia ORPHA:1636
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Niemann-Pick Disease, Type A
Inability to walk, Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegal... OMIM:257200
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Aggressive behavior, Dementia, Abnormality of extrapyramidal motor function, Sp... OMIM:300894
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
X-Linked Dominant Chondrodysplasia Punctata
Flat face, Scarring alopecia of scalp, Abnormality of hair texture ORPHA:35173
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Fetal Gaucher Disease
Ectropion, Hypertonia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of... ORPHA:85212
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy, Spasticity ORPHA:67048
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:618116
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis... ORPHA:71517
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Orofaciodigital Syndrome Xv
Flat face OMIM:617127
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Lower limb spasticity, Irritabilit... ORPHA:3077
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Increased urinary potassium, Polydipsia ORPHA:231580
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Alopecia, Lymphadenopathy ORPHA:100025
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Rigidity, Chorea, Gait disturbance, Abnorma... OMIM:213600
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Chorea, Lymphopenia, Hemolytic anemia OMIM:616744
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Rigidity, Spasti... ORPHA:33445
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Clinodactyly, Ptosis, Radial deviation of finger OMIM:188025
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Difficulty walking, Limb atax... ORPHA:98764
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Hepatomegaly, Splenomegaly, Generalized hirsutism, Abnormality of the to... ORPHA:93476
Dysplastic Cortical Hyperostosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Cardiomyopathy OMIM:613313
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Clinodactyly of the... ORPHA:229717
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Flared metaphysis, Sp... OMIM:259720
Cog4-Cdg
Cirrhosis, Ataxia, Thrombocytopenia, Limb hypertonia, Irritability, Hepatosplenomegaly ORPHA:263501
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Thrombocytopenia, Co... ORPHA:3392
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Urocanase Deficiency
Tremor, Ataxia, Fair hair OMIM:276880
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Spasticity, Splenomegaly ORPHA:77260
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Enlarged kidney, Macrovesicular hepatic steatosis, Epica... OMIM:617303
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Ptosis, Splenomegaly, Cardiomyopathy, Macrocytic anemia OMIM:619046
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Abnormal facial shape, Dysmetria, Spasticity OMIM:617810
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Blepharophimosis-Impaired Intellectual Development Syndrome
Low anterior hairline, Highly arched eyebrow, Sparse eyebrow, Flat face, Long eyelashes, Synophry... OMIM:619293
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphope... OMIM:613179
Immunodeficiency 46
Conjunctivitis, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemiplegia, Hemophagocytosis, Hypertonia, Ataxia, Thrombocytopenia, Hepatomegaly, Jaundice, Splen... OMIM:267700
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Flat face, Anemia ORPHA:1842
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Renal sodium wast... OMIM:612780
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria OMIM:125800
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Tremor, Choreoathetosis, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia,... OMIM:606159
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Small hand, Un... OMIM:617435
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia, Megacystis, Polyuria OMIM:304800
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Flat face, Round face OMIM:617333
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Clubbing of fingers, Increased proportion autoreactive unresponsive CD21-... OMIM:618534
Grant Syndrome
Large face, Flat face, Facial asymmetry ORPHA:2097
Thanatophoric Dysplasia
Polyhydramnios, Flat face, Increased nuchal translucency ORPHA:2655
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Edema, Cholestasis OMIM:105200
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Ascites, A...