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Gene: Hps1 MGI:2177763

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Gene Summary

Name:
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Synonyms:
6030422N11Rik,  Hermansky-Pudlak syndrome 1

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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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 Hps1 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 Hps1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Hypopigmentation of the ski... OMIM:203300

The table below shows human diseases predicted to be associated to Hps1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tietz Syndrome
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation OMIM:615674
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... OMIM:619947
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp... ORPHA:241
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... OMIM:613496
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... OMIM:155100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Tietz Albinism-Deafness Syndrome
Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes... OMIM:103500
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Presenile cataracts, Renal insu... ORPHA:182050
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:613265
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Waardenburg Syndrome, Type 2B
Heterochromia iridis, Sensorineural hearing impairment, White forelock, Premature graying of hair OMIM:600193
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Immunodeficiency 20
Reduced natural killer cell count, Recurrent otitis media, Recurrent viral upper respiratory trac... OMIM:615707
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo... OMIM:620478
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ... OMIM:227010
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ... ORPHA:998
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... ORPHA:238459
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Hermansky-Pudlak Syndrome 5
Epistaxis, Albinism, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr... OMIM:614074
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Ocular albinism, ... OMIM:614076
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Decreased circulating IgG level, Aplastic anemia, Hemophagocyt... OMIM:308240
Hermansky-Pudlak Syndrome 2
Low-set ears, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosple... OMIM:608233
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo... OMIM:601706
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori... OMIM:193510
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnorm... OMIM:614171
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor... ORPHA:895
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ... ORPHA:2843
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur... ORPHA:2885
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... ORPHA:274
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Bilateral Acute Depigmentation Of The Iris
Recurrent upper respiratory tract infections, Abnormal corneal endothelium morphology, Pigment de... ORPHA:69736
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Foam cells with lamellar inclusion bodies, Splenomegaly, Thrombocytopenia... OMIM:607616
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... OMIM:187900
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Hermansky-Pudlak Syndrome 6
Epistaxis, Albinism, Hypopigmentation of the skin, Recurrent upper respiratory tract infections, ... OMIM:614075
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Abnormal iris pigmentation, Coronary artery... OMIM:132900
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Albinism, Epistaxis, Fair hair, Bruising susceptibility, Ocular albinism, Mela... OMIM:619172
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Hypopigmentation of the ski... OMIM:203300
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon... OMIM:614072
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Hypopigmentation of the s... OMIM:610798
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Leukocyt... ORPHA:3318
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Recurrent respiratory infec... ORPHA:3226
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Decr... OMIM:301000
Hermansky-Pudlak Syndrome 4
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ocular albinism, Absent platelet dense gra... OMIM:614073
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Reduced natural killer cell count, Reduced natural killer cell activ... OMIM:616050
Albinism-Deafness Syndrome
Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini... OMIM:300700
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Chorioretinal hypopigmentation, Recurrent pneumoni... OMIM:617303
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Acute monocyt... OMIM:601399
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib,... OMIM:603585
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:277580
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Nephronophthisis
Anemia, Renal insufficiency, Abnormality of retinal pigmentation ORPHA:655
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Hearing impairment, Thrombocytopenia ORPHA:67048
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from ... OMIM:614077
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Hypopigmented sk... ORPHA:381
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Phenylketonuria
Cataract, Fair hair, Eczematoid dermatitis, Blue irides, Generalized hypopigmentation OMIM:261600
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal... ORPHA:352731
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis, Sensorineural hearing impairment OMIM:616460
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Sen... ORPHA:3437
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Hemophagocy... OMIM:214500
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Free Sialic Acid Storage Disease
Iris hypopigmentation, Recurrent respiratory infections, Splenomegaly, Abnormality of skin pigmen... ORPHA:834
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... OMIM:616726
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... ORPHA:79414
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vascu... OMIM:620321
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu... ORPHA:906
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Abnormality of the pulmonary artery, Hematuria, I... ORPHA:90308
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation, Microcytic anemia, Skin rash, Prolonged bleeding... ORPHA:1059
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Abnormal helix morphology, Multiple cafe-au-lait spots, Prolon... ORPHA:638
Sea-Blue Histiocyte Disease
Foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Optic atrophy, Hep... ORPHA:505248
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... OMIM:618459
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinem... ORPHA:167
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Multiple cafe-au-lait spots, Neutropenia, Thrombocyt... OMIM:614082
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea ... ORPHA:231183
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Hyperapobetalipoproteinemia, Reticulocytosis,... OMIM:210250
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Proteinuria, Episodic hemolytic anemia, Increased blo... ORPHA:251004
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Acatalasemia
Gingival bleeding, Microcytic anemia, Old-aged sensorineural hearing impairment, Vitiligo, Arteri... ORPHA:926
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Sensorineural hearing impairment, Premature graying of hair ORPHA:66633
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Hy... OMIM:611584
Piebaldism
Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr... ORPHA:2884
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis m... OMIM:300455
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hemolytic anemia, Normochromic anemia, Foam cells OMIM:245900
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Tyrosinemia, Type I
Hypermethioninemia, Gastrointestinal hemorrhage, Nephrocalcinosis, Elevated urinary succinylaceto... OMIM:276700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:619220
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Bruising susceptibility, Reduced natural killer cell activity, Decreased circul... ORPHA:540
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism, Generalized hypopigmentat... ORPHA:352723
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Abno... ORPHA:79430
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Abno... ORPHA:324636
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal lung morphology, Abnormal bleeding, Bruising susceptibility, Hepatosplenomega... ORPHA:464329
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment ORPHA:3239
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Bone marrow hypocellularity, Abnormal proportion of naive CD4 ... ORPHA:1830
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... OMIM:617638
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Sensorin... OMIM:148820
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R... OMIM:615513
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Wyburn-Mason Syndrome
Iris hypopigmentation, Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebra... ORPHA:53719
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Increased circulating IgE level, Hematuria, Tubulointerstitia... ORPHA:449395
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ... ORPHA:859
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Leukopenia, Skin rash, Splenomegaly, Myositis, Pur... ORPHA:809
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating long chain fatty acid concentration, Increased total bilirubin, El... OMIM:608836
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Sensorineural hearing impairment,... ORPHA:3214
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Abnormal bleeding, Atherosclerosis ORPHA:91135
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Atelis Syndrome 1
Cataract, Irregular hyperpigmentation, Eczematoid dermatitis, Decreased lymphocyte proliferation ... OMIM:620184
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Waardenburg-Shah Syndrome
Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnor... ORPHA:897
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Enlarged kidney, Nephroblastoma OMIM:618272
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Bronchiectasis, Ectopia lentis, Emphysema, Recurrent bronchitis, ... OMIM:604571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Low-set ears, Recurrent upper respiratory tract infections, Decreased circulating IgG ... OMIM:614069
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... ORPHA:54
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia OMIM:275400
Relapsing Fever
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Abnormal bleeding, Increased t... ORPHA:91547
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A... ORPHA:229717
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Abnormal antihelix morphology, Protruding ear, Blue irides, Recurrent respiratory infections, Caf... ORPHA:3041
Wolfram Syndrome 2
Optic atrophy, Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Decreased circulating ant... OMIM:604928
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... ORPHA:436159
Activated Pi3K-Delta Syndrome
Pneumonia, Hearing impairment, Recurrent otitis media, Decreased circulating antibody level, Sple... ORPHA:397596
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, White hair, Ocular albin... ORPHA:2720
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Bronchogenic cyst, Abnormal pupil morp... ORPHA:2969
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechogenic kidneys, Hy... OMIM:609049
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear... ORPHA:894
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Type IV atherosclerotic lesion, Hearing impairment OMIM:144300
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Obesity And Hypopigmentation
Red hair OMIM:620195
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Abnormal bleeding, Decreased glomerular filtration rate, Hype... OMIM:232200
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract, Premature coronary artery atherosclerosis OMIM:618463
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Tonne-Kalscheuer Syndrome
Blue irides, Pulmonary hypoplasia OMIM:300978
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Leukocytosis, Increased ... ORPHA:3392
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Leukope... OMIM:603553
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Impaire... OMIM:608184
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time, Atherosclerosis OMIM:610842
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Bronchiectasis, Emphysema, Lymphopenia, Decreased circulating antibody lev... ORPHA:1572
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... ORPHA:217390
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
H Syndrome
Bronchiectasis, Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Azoospermia, Hypertriglycer... ORPHA:168569
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Microlissencephaly
Pneumonia ORPHA:1083
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Sensorineural hearing impairment, Aspiration pneumonia OMIM:609528
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti... OMIM:615518
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Lymphopenia, Pancytopenia, Abnorm... OMIM:242900
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Stroke, Subarach... ORPHA:494424
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Primary Ciliary Dyskinesia
Nasal polyposis, Conductive hearing impairment, Hearing impairment, Atelectasis, Polysplenia, Rec... ORPHA:244
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Gm1-Gangliosidosis, Type Iii
Foam cells, Splenomegaly, Opacification of the corneal stroma, Cherry red spot of the macula OMIM:230650
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Spondylo-Ocular Syndrome
Low-set ears, Cataract, Iris hypopigmentation, Abnormal antihelix morphology, Aplasia/Hypoplasia ... ORPHA:85194
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis... OMIM:614878
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Bronchiectasis, Conductive hearing impairment, Abnormal cornea morpho... OMIM:244400
Lcat Deficiency
Corneal opacity, Hemolytic anemia, Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Iris flocculi, Aortic aneurysm, D... OMIM:611788
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Cherry red spot of the macula, Foam cells with lamella... OMIM:257200
Noonan Syndrome 4
Low-set ears, Abnormal bleeding, Bruising susceptibility, Blue irides, Thrombocytopenia, Thickene... OMIM:610733
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia, Foam cells ORPHA:264675
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae,... ORPHA:158029
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia, Pulmonar... OMIM:615415
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Congenital sensorineural hearing impairment, Generalized hypopigmentation,... OMIM:617306
Ataxia-Telangiectasia
Abnormality of chromosome stability, Premature graying of hair, Lymphopenia, Multiple cafe-au-lai... ORPHA:100
Panbronchiolitis, Diffuse
Bronchiectasis, Foam cells OMIM:604809
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Nephrocalcinosis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding follo... ORPHA:79259
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:613266
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Gastrointestinal hemorrhage, Oliguria, Spontaneous pneumothorax, Recurrent p... ORPHA:731
Riboflavin Transporter Deficiency
Iris hypopigmentation, Progressive hearing impairment ORPHA:97229
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Hyphema, Multiple cafe-au-lait spots, Iritis, Myeloproliferative ... ORPHA:158000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Sensorineural hearing impairment, Coronary ar... ORPHA:1192
Hermansky-Pudlak Syndrome 10
Low-set ears, Ocular albinism, Splenomegaly, Neutropenia, Albinism, Abnormal pulmonary interstiti... OMIM:617050
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int... OMIM:612387
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration, Abnormality of retinal pigmentation ORPHA:122
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ... OMIM:243700
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Noonan Syndrome 13
Low-set ears, Bruising susceptibility, Recurrent otitis media, Multiple lentigines, Blue irides, ... OMIM:619087
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... ORPHA:247598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Conductive hearing impairment, Leukopenia, Hyperpigmentat... OMIM:603467
Acute Radiation Syndrome
Cataract, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Abnormal bleeding, ... ORPHA:454831
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat... OMIM:619752
Edinburgh Malformation Syndrome
Low-set ears, Brushfield spots ORPHA:1895
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of skin pigmentation, Atherosclerosis ORPHA:1979
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Cataract, Premature graying of hair, Moyamoya phenomenon, Azoospermia, Ischemic str... ORPHA:280679
Tangier Disease
Coronary artery atherosclerosis, Splenomegaly, Opacification of the corneal stroma, Atherosclerosis OMIM:205400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:620365
Macs Syndrome
Bronchiectasis, Dilation of Virchow-Robin spaces, Bruising susceptibility, Recurrent aphthous sto... OMIM:613075
Werner Syndrome
Cataract, Abnormal cerebral vascular morphology, Premature graying of hair, Atherosclerosis, Whit... ORPHA:902
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment ORPHA:85179
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... ORPHA:3124
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... OMIM:618108
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomeg... OMIM:208540
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re... OMIM:613179
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration ORPHA:90301
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Low-set ears, Reduced natural killer cell count, Decreased circulating IgA level, Chro... OMIM:242860
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Kerato... ORPHA:79128
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Cherry red spot of the macula, Hepatos... ORPHA:333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Flynn-Aird Syndrome
Cataract, Progressive sensorineural hearing impairment, Atherosclerosis ORPHA:2047
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... OMIM:620032
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Lo... ORPHA:79443
Noonan Syndrome
Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Low-set, posteriorl... ORPHA:648
Fish-Eye Disease
Corneal opacity, Splenomegaly, Atherosclerosis ORPHA:79292
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Macrotia, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ... OMIM:619632
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus... ORPHA:2902
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Petechiae, ... OMIM:620296
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Bloom Syndrome
Chromosome breakage, Recurrent upper respiratory tract infections, Abnormality of chromosome stab... OMIM:210900
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Atherosclerosis, Premature graying of hair, Splenomegaly, Coronary a... ORPHA:280365
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron... OMIM:615505
Waardenburg Syndrome
Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ... ORPHA:3440
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Abnormal cerebral vascular morphology, ... ORPHA:758
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Spotty hypopigmentation, Hyperpigmentation of the skin, Corneal opacity ORPHA:1867
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney, Pulmonary hypoplasia OMIM:314390
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Netherton Syndrome
Irregular hyperpigmentation, Eczematoid dermatitis, Emphysema, Increased circulating IgE level, S... ORPHA:634
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Sensorineural hearing impairment, Choroideremia... ORPHA:2719
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Recurrent pneumonia, Hypopigmentation of the skin, Megalocor... OMIM:252500
Gapo Syndrome
Low-set ears, Keratoconus, Hearing impairment, Abnormal cerebral vascular morphology, Atheroscler... ORPHA:2067
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Neuhauser Syndrome
Cupped ear, Megalocornea, Hypoplasia of the iris, Large fleshy ears, Iridodonesis, Iris transillu... OMIM:249310
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Cataract, Abnormal helix morphology, Pigmentary retinopathy, Hearing impairment, Op... OMIM:214100
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Abnormal helix morphology, Pigmentary retinopathy, Opacification of the corneal stroma,... OMIM:214110
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Cataract, Elevated circulating luteinizing hormone level, Premature coronary artery... OMIM:300845
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin... ORPHA:53271
Hypocomplementemic Urticarial Vasculitis
Irregular hyperpigmentation, Emphysema, Episcleritis, Pleural effusion, Skin rash, Splenomegaly, ... ORPHA:36412
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron... OMIM:613193
Icf Syndrome
Low-set ears, Abnormality of chromosome stability, Abnormality of neutrophils, Lymphopenia, Anemi... ORPHA:2268
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Acrocephalopolydactylous Dysplasia
Polysplenia, Hepatomegaly, Extrapulmonary lobar sequestration, Enlarged kidney, Cystic renal dysp... OMIM:200995
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Retin... OMIM:613550
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Premature coronary artery atherosclerosis OMIM:620058
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin con... ORPHA:244242
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, CNS foam cells, Foam cells, Pulmona... OMIM:607625
Familial Partial Lipodystrophy, Dunnigan Type
Coronary artery atherosclerosis, Pancreatitis, Splenomegaly, Atherosclerosis ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Splenomegaly, Coronary artery atherosclerosis, Pancrea... ORPHA:79083
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Precocious atherosclerosis, Gastrointestinal hemorrhage, Bruising susceptibility ORPHA:230839
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra... ORPHA:98754
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eo... ORPHA:2314
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Neutrop... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Decrease... OMIM:615952
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Pigmentary retinopathy, Progressive sensorineural hearing impairm... OMIM:203800
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Increased circulating free fatty acid level, Decreased circulating carnit... ORPHA:71212
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Congenital sensorineural hearing impairment, White f... OMIM:193500
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Atherosclerosis ORPHA:2724
Zellweger Syndrome
Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity, Brushfield sp... ORPHA:912
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Melanocytic nevus, Vesicoureteral reflux, Splenomegaly,... ORPHA:116
Vici Syndrome
Low-set ears, Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the skin, Ca... OMIM:242840
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra... ORPHA:98793
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Cholesteryl Ester Storage Disease
Arteriosclerosis, Splenomegaly ORPHA:75234
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Al-Raqad Syndrome
Low-set ears, Hypopigmentation of the skin OMIM:616459
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra... ORPHA:177904
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra... ORPHA:177901
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Elevated circ... ORPHA:49566
Coronary Artery Disease, Autosomal Dominant 2
Gout, Premature coronary artery atherosclerosis OMIM:610947
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... ORPHA:420741
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... OMIM:614679
Familial Dysautonomia
Abnormal pleura morphology, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Rec... ORPHA:1764
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, As... ORPHA:500095
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... ORPHA:486
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... OMIM:613808
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Sensorineural hearing impairment ORPHA:231178
Agammaglobulinemia, X-Linked
Hearing impairment, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, R... OMIM:300755
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Dysbetalipoproteinemia
Corneal arcus, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Gout, Ty... ORPHA:412
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Aortic root aneurysm, Eczematoid dermatitis, Fair hair, Overfold... OMIM:610443
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Acquired Von Willebrand Syndrome
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... ORPHA:99147
8Q21.11 Microdeletion Syndrome
Low-set ears, Cataract, Iris hypopigmentation, Eczematoid dermatitis, Hearing impairment, Corneal... ORPHA:284160
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Foam cells ORPHA:747
Coronary Artery Disease, Autosomal Dominant, 1
Premature coronary artery atherosclerosis OMIM:608320
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Coronary artery atherosclerosis ORPHA:79084
Nail-Patella Syndrome
Nephritis, Antecubital pterygium, Primary congenital glaucoma, Lester's sign, Arthritis, Internal... ORPHA:2614
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy... OMIM:613070
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Low-set ears, Rheumatoid arthritis, Hypermelanotic macule, Recurrent otitis media, Lym... OMIM:607944
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen... OMIM:614935
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Gastrocutaneous Syndrome
Multiple lentigines, Melanocytic nevus, Multiple cafe-au-lait spots, Coronary artery atherosclerosis ORPHA:2069
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon... ORPHA:723
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Increased circulating procalcitonin concen... ORPHA:36238
Q Fever
Pneumonia, Vasculitis, Hepatitis, Abnormal vascular morphology, Osteomyelitis, Hepatosplenomegaly... ORPHA:781
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:618620
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Hearing impairment, Panhypogammaglobulinemia, Recurrent otitis ... OMIM:307200
Waardenburg Syndrome Type 3
White hair, Hearing impairment, Atelectasis ORPHA:896
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentrat... ORPHA:79303
Morbid Obesity And Spermatogenic Failure
Azoospermia, Premature coronary artery atherosclerosis, Oligozoospermia OMIM:615703
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Hypopigmentation of the skin, Fair hair, Astigmatism ORPHA:72
Alkaptonuria
Irregular hyperpigmentation, Atherosclerosis, Methemoglobinemia, Prostatitis, Aortic aneurysm, Co... ORPHA:56
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Purpura,... ORPHA:1304
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Scimitar anomaly, Congenital alveolar dysplasia, Partial anom... OMIM:608978
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Arteriosclerosis, Stroke-like episode ORPHA:199354
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm... OMIM:601495
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Aspiration pneumonia OMIM:619057
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Hyper... ORPHA:64743
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ir... ORPHA:67042
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otit... ORPHA:169090
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Hypopigmentation of the skin, Bronchitis, Azoospermia... ORPHA:125
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Premature coronary artery atherosclerosis, Atherosclerosis ORPHA:425
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Fanconi Anemia, Complementation Group B
Low-set ears, Abnormality of chromosome stability, Aplastic anemia, Abnormal lung lobation, Coarc... OMIM:300514
Cholesteryl Ester Storage Disease
Hepatic foam cells, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia... OMIM:278000
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... ORPHA:449280
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Vici Syndrome
Decreased circulating IgG level, Cataract, Hypopigmentation of the skin, Decreased circulating Ig... ORPHA:1493
Hypophosphatasia
Emphysema, Anemia ORPHA:436
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:101800
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Decr... ORPHA:83471
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... OMIM:610978
Down Syndrome
Conductive hearing impairment, Tetralogy of Fallot, Brushfield spots, Acute megakaryocytic leukem... OMIM:190685
Ogden Syndrome
Peripheral pulmonary artery stenosis, Polycythemia, Hyperbilirubinemia, Pulmonary edema, Pulmonar... OMIM:300855
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Proximal tubulopathy, Hypocholesterolemia, Decr... OMIM:212065
Cardiac-Urogenital Syndrome
Accessory spleen, Pulmonary hypoplasia, Scimitar anomaly, Penoscrotal hypospadias, Partial anomal... OMIM:618280
Proteus Syndrome
Pulmonary cyst, Chorioretinal coloboma, Pulmonary bulla, Cataract, Retinal nonattachment, Enlarge... ORPHA:744
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, ... OMIM:617092
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Premature grayin... OMIM:127550
3-Methylglutaconic Aciduria, Type Viib
Cataract, Recurrent pneumonia, Abnormal bleeding, Leukopenia, 3-Methylglutaconic aciduria, Zonula... OMIM:616271
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Abnormality of the spleen, Lymphopenia, Pleural e... ORPHA:228119
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Foam cells, Bone-marrow foam cells OMIM:257220
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Cataract, Pigmentary retinopathy, Abnormal helix morphology, Hearing impairment, He... OMIM:614866
Congenital Syphilis
Pneumonia, Cataract, Keratitis, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomeg... ORPHA:499009
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Hearing impairment, Central... ORPHA:233
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorrhage, Dila... ORPHA:73263
Sturge-Weber Syndrome
Abnormal cerebral vascular morphology, Abnormal choroid morphology, Stroke, Heterochromia iridis,... ORPHA:3205
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious encephaliti... ORPHA:454836
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... OMIM:177850
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Coronary artery atherosclerosis, Strok... OMIM:264800
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen... ORPHA:31202
Alg9-Cdg
Hypoplasia of the bladder, Abnormal lung lobation, Abnormal renal artery morphology, Hydronephros... ORPHA:79328
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Arteria lusoria, Decreased circulating total IgG, Decreased ly... ORPHA:221139
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hearing impairment, ... OMIM:158310
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Carotid artery stenosis, Thrombocytopenia, Corneal ... ORPHA:31150
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Inguinal freckling, Cataract, Hearing impairment, Hypopigmented ski... ORPHA:636
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Prominent superficial veins, Spotty hyperpigmentation, Atherosclerosis OMIM:614008
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Respiratory tract infection, Infectiou... ORPHA:36234
Phace Syndrome
Iris coloboma, Cataract, Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morp... ORPHA:42775
Leprechaunism
Nephrocalcinosis, Long penis, Hyperaldosteronism, Hyperinsulinemia, Hypokalemia, Hypercalciuria, ... ORPHA:508
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Premature graying of hair, Emphysema, Aortic atherosclerotic lesion, Abnorm... ORPHA:363618
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Spondyloenchondrodysplasia
Pneumonia, Vasculitis, Hepatitis, Pancytopenia, Vitiligo, Skin rash, Autoimmune hemolytic anemia,... ORPHA:1855
Alpha-Mannosidosis, Adult Form
Pneumonia, Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Mixed hearing impairment ORPHA:309288
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Pleural effusion, Pulmonary edema, Cardiomegaly, Enlarged kidney OMIM:261740
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Paget Disease Of Bone 6
Osteoarthritis, Coronary artery atherosclerosis OMIM:616833
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Recurrent respiratory ... ORPHA:79124
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma... ORPHA:39041
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Trisomy 8P
Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, Conductive he... ORPHA:264450
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Hypopigmented skin patches, Hepatosplenomegaly, White forelock, Sensorineural... OMIM:609136
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent... OMIM:306900
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormal circulat... ORPHA:35706
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis,... ORPHA:169105
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Leukocyte Adhesion Deficiency
Pneumonia, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, ... ORPHA:2968
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Impaired lymphocyte transformation with phyto... ORPHA:79329
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Secondary Short Bowel Syndrome
Enterocolitis, Atherosclerosis ORPHA:95427
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt... OMIM:603554
Relapsing Polychondritis
Cataract, Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, ... ORPHA:728
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Hepatitis, Coronary artery atheroscle... ORPHA:209902
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Irregular hyperpigmentation, Conductive hearing impairment, Hearing impa... ORPHA:2135
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Pleural effusion... OMIM:620233
Lujo Hemorrhagic Fever
Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapular exanthema, Excessive... ORPHA:319213
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Abnormal bleeding, Hypopigmentation of the fundus, Hypochol... ORPHA:14
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Abnormal circulating IgM level, Hypocholesterolemia, Comple... ORPHA:79324
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Emphysema,... OMIM:614816
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Renal agenesis, Polysplenia, Horseshoe kidney, Bilateral... OMIM:306955
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, ... OMIM:618278
Hutchinson-Gilford Progeria Syndrome
Precocious atherosclerosis, Premature coronary artery atherosclerosis OMIM:176670
Cockayne Syndrome
Vascular calcification, Cataract, Pigmentary retinopathy, Band keratopathy, Retinal arteriolar co... ORPHA:191
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Arteriosclerosis, Severe Juvenile
Anemia, Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta OMIM:208060
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Decrea... ORPHA:293978
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Recurrent skin infections... OMIM:619381
Yellow Fever
Acute kidney injury, Abnormal bleeding, Anuria, Pancreatic hyperplasia, Elevated circulating crea... ORPHA:99829
Squalene Synthase Deficiency
Low-set ears, Posteriorly rotated ears, Abnormality of hair pigmentation, Macrotia OMIM:618156
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Numerous pigmented freckles, Skin rash, Hearing impairment ORPHA:220295
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Splenomegaly, Sensorineural hearing impair... ORPHA:163746
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Osteo... OMIM:306400
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,... ORPHA:538
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Astigmatism, Recurrent respiratory infecti... OMIM:615873
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Timothy Syndrome
Pneumonia, Patent ductus arteriosus, Tetralogy of Fallot, Bronchitis OMIM:601005
Baraitser-Winter Cerebrofrontofacial Syndrome
Heterochromia iridis, Transient ischemic attack, Iris coloboma, Microcornea ORPHA:2995
Retinoblastoma
Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation,... ORPHA:790
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Peritonitis, Corn... ORPHA:810
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Abn... OMIM:181000
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, 3-Methylglutaconic aciduria, Hyperalaninemia, Prolonged prothromb... OMIM:618329
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Incr... ORPHA:99826
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Low-set ears, Recurrent pneumonia, Cupped ear, Lop ear, Sensorineural hearing impairment, Mixed h... OMIM:300472
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Aspiration pneumonia ORPHA:79264
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Sensorineural hearing impairment, Lester's sign, Glomerulonep... OMIM:161200
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Pancytopen... OMIM:615846
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis, Vasculitis ORPHA:70578
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin ORPHA:319552
Noonan Syndrome 9
Hydroureter, Prominent corneal nerve fibers, Prolonged prothrombin time OMIM:616559
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, He... ORPHA:20
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Conductive hearing impairment, Fair hair, Blue irides, Generalized hypopigmentation, Recurrent re... OMIM:129900
22Q11.2 Deletion Syndrome
Low-set ears, Hypopigmented skin patches, Hearing impairment, Posterior embryotoxon, Purpura, Pat... ORPHA:567
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Aapoaiv Amyloidosis
Paraproteinemia, Abnormal lung morphology, Coronary artery atherosclerosis ORPHA:439232
Shwachman-Diamond Syndrome
Aplastic anemia, Hearing impairment, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid ... ORPHA:811
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Periodontitis, Pulmonary bulla, Absent earlobe, Diffuse alveolar hemorrhage, Dilatat... OMIM:130050
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin, Keratitis, Freckling, Conjunctivitis, Defective DNA repair after ul... OMIM:278720
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Petechiae, Thrombocytopenia, Anemia, Intracranial ... OMIM:617053
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Aspiration pneumonia, Sensorineural hearing impairme... ORPHA:52368
Knobloch Syndrome 1
Band keratopathy, Lens subluxation, Chorioretinal atrophy, Cortical cataract, Developmental catar... OMIM:267750
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Leukoc... ORPHA:829
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Aspiration pneumonia ORPHA:216866
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Cleft Velum
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia ORPHA:99772
Williams Syndrome
Megalocornea, Sensorineural hearing impairment, Overriding aorta, Posterior embryotoxon, Flat cor... ORPHA:904
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Coronary artery atherosclerosis, Stroke, Precocious atheroscle... ORPHA:275761
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Werner Syndrome
Elevated hemoglobin A1c, Premature arteriosclerosis, Cataract OMIM:277700
Neuroocular Syndrome 1
Low-set ears, Cataract, Microcornea, Cupped ear, Peters anomaly, Anterior creases of earlobe, Blu... OMIM:619539
Digeorge Syndrome
Interrupted aortic arch, Low-set ears, Recurrent pneumonia, Right aortic arch with mirror image b... OMIM:188400
Brittle Cornea Syndrome 1
Red hair, Hearing impairment OMIM:229200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Skin... ORPHA:247691
Sarcoidosis
Abnormal pleura morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Tubulointerstitia... ORPHA:797
Lathosterolosis
Cataract, Foam cells with lamellar inclusion bodies, Anisopoikilocytosis OMIM:607330
Hutchinson-Gilford Progeria Syndrome
Carotid artery occlusion, Low-frequency sensorineural hearing impairment, Conductive hearing impa... ORPHA:740
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Palpable purpura, Cerebr... ORPHA:48435
Cerebrotendinous Xanthomatosis
Abnormal auditory evoked potentials, Premature coronary artery atherosclerosis, Juvenile cataract... ORPHA:909
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Aspiration pneumonia, Sensorineural hearing impairment, Intraventricular hemorrhage... OMIM:616430
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Coccidioidomycosis
Pneumonia, Vasculitis, Folliculitis, Hearing impairment, Increased circulating IgM level, Exudati... ORPHA:228123
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Abnormal circulating leptin concentration, Fasting hyperinsulinemia, Leukop... ORPHA:2298
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Autoimmune Hypoparathyroidism
Conjunctivitis, Cataract, Chronic mucocutaneous candidiasis, Coronary artery atherosclerosis ORPHA:36913
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Acute pancreatitis, Prominent superficial veins, Atherosclerosis OMIM:151660
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Abnormal circulating androgen level, Increased circulating ACTH level, Decreased circu... ORPHA:90790
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Cherry red spot of the macula, Hypersplenism, Interstitial pneumonitis, Spleno... ORPHA:77293
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Gm1 Gangliosidosis
Low-set ears, Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly, Splenomega... ORPHA:354
Classical Ehlers-Danlos Syndrome
Arterial dissection, Abnormal cornea morphology, Aortic root aneurysm, Bruising susceptibility, D... ORPHA:287
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Abnormal circulating leptin concentration, Premature grayi... ORPHA:79474
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio... ORPHA:31204
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Increased circulating cortisol level, Increased circulating... ORPHA:97287
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin, Sensorineural hearing impairment OMIM:620237
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Pulmonary hypoplasia, Microcornea, Aortic root aneurysm, Bruising susceptibility, A... ORPHA:536467
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Fair hair, Hearing impairment, Blue irides, Generalized hypopigmentation, Blepharitis, Microtia OMIM:604292
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating IgA level, Macrocytic... OMIM:212750
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Hyperammonemia, Prolonged prothrombin time, Conjugated hyperbilirubinemia, Elev... OMIM:617049
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Niemann-Pick Disease Type C
Hearing impairment, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Foam cells, Abnormal ... ORPHA:646
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia, Double aor... OMIM:230900
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Prolonged prothrombin time OMIM:618641
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Iris coloboma, Atelectasis, Retinal arterial tortuosity, Splenic cyst, Vitreous hemorrhage, Pancr... OMIM:620371
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, P... ORPHA:534
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Abnormal lung ... OMIM:312870
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Hypoalbuminemia ORPHA:367
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Melena, Subconjunctival hemorrhage, Pleural effusion, Leukocytosis, Petechi... ORPHA:340
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Pigmentary retinopathy, Hypotriglyceridemia, Optic atrophy, Corneal sc... ORPHA:404454
Listeriosis
Pneumonia, Arteritis, Hearing impairment, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectiou... ORPHA:533
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Prolonged prothrombin t... OMIM:311250
Estrogen Resistance Syndrome
Hyperinsulinemia, Coronary artery atherosclerosis, Abnormal circulating hormone concentration, In... ORPHA:785
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microtia, Cupped ear, Ocular albinism ORPHA:1352
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Intraventricu... OMIM:619055
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Petechiae, Reticulocytosis, Neutropenia, Prolonged... ORPHA:2330
Hyperlipoproteinemia, Type I
Precocious atherosclerosis, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot... ORPHA:391665
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Recurrent respiratory infec... OMIM:219100
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hyperbilirubinemia, Prolonged prothrombin time, Hepatomegaly, Decreased serum bile ... OMIM:214950
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Sensorineural hearing impairment, Renal artery stenosis, Cerebral artery atherosclerosis, Coronar... OMIM:209010
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly, Prolonged prothrombin time OMIM:617941
Neonatal Marfan Syndrome
Low-set ears, Crumpled ear, Aortic root aneurysm, Ectopia lentis, Megalocornea, Emphysema, Iridod... ORPHA:284979
Meier-Gorlin Syndrome 4
Emphysema, Low-set ears, Microtia OMIM:613804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hydronephrosis, Cardiomegaly, Decreased serum... OMIM:614921
Cockayne Syndrome Type 3
Vascular calcification, Lentiglobus, Cataract, Microcornea, Aortic root aneurysm, Premature coron... ORPHA:90324
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hyperbilirubinemia, Splenomegaly, Prolonged prothrombin time, Hepatomegaly OMIM:613812
Chops Syndrome
Cataract, Hearing impairment, Aspiration pneumonia, Splenomegaly, Thickened helices, Patent ductu... OMIM:616368
Short-Rib Thoracic Dysplasia 12
Low-set ears, Atelectasis, Splenomegaly, Abnormal pinna morphology, Posteriorly rotated ears, Pat... OMIM:269860
Infantile Liver Failure Syndrome 2
Hyperammonemia, Prolonged prothrombin time OMIM:616483
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Dilatation of the ventricul... ORPHA:90349
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Patent ductus arteriosus, Coronary artery atherosclerosis ORPHA:435638
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... ORPHA:309854
Sialuria
Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Hypercholesterolemia, Familial, 1
Corneal arcus, Coronary artery atherosclerosis OMIM:143890
Monosomy 13Q34
Hematochezia, Epistaxis, Fetal pyelectasis, Prolonged prothrombin time, Hypercalcemia ORPHA:96168
Isolated Biliary Atresia
Splenomegaly, Dark yellow urine, Prolonged prothrombin time, Hepatomegaly, Conjugated hyperbiliru... ORPHA:30391
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Coronary artery stenosis, Splenomegaly, Renal artery athero... ORPHA:565612
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Premature graying of hair, Recurr... OMIM:194050
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Cherry red spot of the macula, Aspiration pneumonia, Hepatosple... ORPHA:79255
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Mismatch Repair Cancer Syndrome 1
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling OMIM:276300
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t... OMIM:263700
Hypercholesterolemia, Familial, 2
Corneal arcus, Coronary artery atherosclerosis OMIM:144010
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Conductive hearing impairment, Hearing impairment, Aspiration p... ORPHA:581
Marfan Syndrome
Arterial dissection, Spontaneous pneumothorax, Pulmonary artery dilatation, Aortic root aneurysm,... ORPHA:558
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Hypopigmentation of the skin, Abnormal bleeding, Leukopenia, Erythroid h... ORPHA:79277
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Atelectasis, Dilatation of the cerebral artery, Transient ischemi... ORPHA:365
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Symblepharon, Inflammatory abnormality of the skin, Keratitis, Hypopigmentation of the... ORPHA:95455
Autosomal Dominant Cutis Laxa
Low-set ears, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Dilatation of the v... ORPHA:90348
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Pleural effusion, Polyclo... ORPHA:171
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hemolytic anemia, Leukocytosis, Respiratory tract infection, Pancreatitis, Thrombocyto... ORPHA:544482
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Corneal perforation, Respiratory tract infection, Infe... ORPHA:68
Cornelia De Lange Syndrome 1
Pneumonia, Low-set ears, Microcornea, Conductive hearing impairment, Otitis media, Astigmatism, S... OMIM:122470
Degcags Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Un... OMIM:619488
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Koolen-De Vries Syndrome
Abnormality of hair texture, Overfolded helix, Hypopigmentation of hair, Protruding ear ORPHA:96169
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Hypopigmentation of the skin, Abnormal bleeding, Erythroid hyperplasia, ... ORPHA:95159
Fabry Disease
Cataract, Hearing impairment, Emphysema, Transient ischemic attack, Sensorineural hearing impairm... ORPHA:324
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Hearing impairment, Recurrent ... OMIM:245150
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Overfolded helix, Hypopigmentation of hair, Posteriorly rotated ears, Wido... ORPHA:1974
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Anterior lenticonus, Keratitis, Aspiration pneumonia, Sensorineural hearing impairment,... ORPHA:1018
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Increased ... OMIM:619472
Brittle Cornea Syndrome
Conductive hearing impairment, Abnormality of hair pigmentation, Sensorineural hearing impairment ORPHA:90354
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Prost... ORPHA:1546
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microcytic anemia, Splenomegaly, Hepatomegaly, Membranoproliferative glomer... OMIM:619525
Alpha-Mannosidosis, Infantile Form
Pneumonia, Cataract, Hepatosplenomegaly, Pancytopenia, Otitis media, Astigmatism, Sensorineural h... ORPHA:309282
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis ORPHA:140905
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Lissencephaly Due To Lis1 Mutation
Dilation of Virchow-Robin spaces, Aspiration pneumonia ORPHA:95232
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Acute Liver Failure
Gastrointestinal hemorrhage, Acute kidney injury, Abnormal bleeding, Bruising susceptibility, Hyp... ORPHA:90062
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Marfan Syndrome
Cataract, Microspherophakia, Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection... OMIM:154700
Plague
Inflammation of the large intestine, Mydriasis, Lymphadenitis, Hearing impairment, Chapped lip, A... ORPHA:707
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Emphysema, Recurrent respiratory infections, Posteriorly rotated e... OMIM:616835
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascu... OMIM:614437
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hearing impairment, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia OMIM:301072
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Hearing impairment, Splenomegaly, Cornea... OMIM:253200
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the... ORPHA:99104
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Co... OMIM:615947
Marshall-Smith Syndrome
Low-set ears, Recurrent upper respiratory tract infections, Bilateral conductive hearing impairme... OMIM:602535
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
1P36 Deletion Syndrome
Cataract, Conductive hearing impairment, Ocular albinism, Tetralogy of Fallot, Abnormality of the... ORPHA:1606
Bickerstaff Brainstem Encephalitis
Pneumonia, Mydriasis, Anisocoria, Respiratory tract infection ORPHA:79138
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia ORPHA:94093
Tay-Sachs Disease
Cherry red spot of the macula, Hearing impairment, Aspiration pneumonia ORPHA:845
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Abnormal cornea morphology, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Ane... ORPHA:79404
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Dilatation of the cerebral artery, Pancytopenia, Anemia, Abnormal pulmonary interstiti... OMIM:613658
Meier-Gorlin Syndrome 1
Low-set ears, Atresia of the external auditory canal, Hearing impairment, Emphysema, Incomplete p... OMIM:224690
Cholera
Stroke, Aspiration pneumonia ORPHA:173
Ellis Van Creveld Syndrome
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs ORPHA:289
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Aortic root aneurysm, Hearing impairment, Cupped ear, Aspiration pneumonia, Low-set, po... ORPHA:444077
Liver Disease, Severe Congenital
Pneumonia, Eczematoid dermatitis, Recurrent otitis media, Chronic gastritis, Leukopenia, Dilatati... OMIM:619991
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Microphthalmia, Syndromic 1
Iris coloboma, Renal hypoplasia, Microcornea, Hydroureter, Chorioretinal coloboma, Optic disc col... OMIM:309800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Cataract, Conductive hearing impairment, Otitis media, Sensorineural hearing impairmen... ORPHA:353281
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Decreased circulating IgG level, Hearing impairment, Emphysema, Transient ischemic ... ORPHA:500150
Chand Syndrome
Atelectasis ORPHA:1401
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Low-set ears, Cataract, Prominent scalp veins, Hypoplasia of the thymus, Increased ser... OMIM:264090
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Hearing impairment, Aspiration pneumonia, Tetralogy... ORPHA:1465
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Transient ischemic attack, Stroke ORPHA:99103
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Low-set ears, Cataract, Conductive hearing impairment, Corneal scarring, Otitis media,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Low-set ears, Cataract, Conductive hearing impairment, Corneal scarring, Otitis media,... ORPHA:353277
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi... OMIM:219800
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Aspiration pneumonia ORPHA:99027
Doors Syndrome
Low-set ears, Cataract, Atresia of the external auditory canal, Aspiration pneumonia, Double outl... ORPHA:79500
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Astigmatism, Aspiration pneumonia OMIM:619482
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Patent ductus arteriosus, Anomalous origin of left subclavian artery, Aspiration pneumonia ORPHA:438213
Alobar Holoprosencephaly
Sensorineural hearing impairment, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Sensorineural hearing impairment, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Sensorineural hearing impairment, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Sensorineural hearing impairment, Aspiration pneumonia ORPHA:220386
Yunis-Varon Syndrome
Low-set ears, Cataract, Cupped ear, Prominent antihelix, Aspiration pneumonia, Tetralogy of Fallo... OMIM:216340
Pmm2-Cdg
Cataract, Elevated circulating thyroid-stimulating hormone concentration, Aspiration pneumonia, H... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hps1.

No publications found that use IMPC mice or data for Hps1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hps1em1(IMPC)Bay Exon Deletion Mice
Hps1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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