Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Gingival bleeding, Infla... 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 hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism 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, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism 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
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... ORPHA:241
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Recurrent respiratory infections, Complete or near-comple... OMIM:613496
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impai... OMIM:155100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... OMIM:103500
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Spontaneous, recurrent epistax... ORPHA:182050
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Decreased circulating antib... OMIM:613101
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613265
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine... OMIM:619281
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal... OMIM:620478
Immunodeficiency 20
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Recurrent sinusitis, ... OMIM:615707
Ermine Phenotype
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... OMIM:227010
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Iris transillumination defect, Impaired ADP-induced platelet aggr... OMIM:614074
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Recurrent pharyngitis, Hemophagocytosis, Pancytopenia, Lym... OMIM:308240
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Splenomegaly, Enlarged... OMIM:608233
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock, Severe sensorine... OMIM:601706
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... OMIM:193510
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Hypopi... OMIM:614171
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Sensorineural he... ORPHA:895
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Absent isohemagglutinin level, Recurrent low... OMIM:615559
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor... ORPHA:2843
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ... ORPHA:2885
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Bone-marrow foam cell... OMIM:607616
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Iris transillumination defect, Urinary incontinence, Absent fovea... OMIM:614075
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Ocular albinism, Gingival bleeding, Impaired collagen-induced plat... OMIM:619172
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Gingival bleeding, Infla... OMIM:203300
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of hair, Impaired platelet aggregation, Spontaneous, recurren... OMIM:614072
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin, Recurrent bronchopulmonary infecti... OMIM:610798
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp... ORPHA:3318
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Abnormal bleeding, Menorrhagia, Epistaxis, Pulmonary fibrosis, Br... OMIM:614073
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ... OMIM:616050
Albinism-Deafness Syndrome
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... OMIM:300700
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Anemia, Recurrent respiratory infections, Focal seg... OMIM:617303
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Thrombocytopenia, Proteinuria, Macro... OMIM:603585
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:277580
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Nephronophthisis
Abnormality of retinal pigmentation, Anemia, Renal insufficiency ORPHA:655
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased circulatin... OMIM:619802
3-Methylglutaconic Aciduria Type 4
Cataract, Hearing impairment, Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Spotty hypo... ORPHA:79399
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Protruding ear, Hyperpigmentation of the skin, Onychogryposis of fing... ORPHA:2251
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Excessive bleeding from superficial cuts, Silver-gray... OMIM:614077
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Decreased circulating an... ORPHA:381
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Hemophilia B
Cephalohematoma, Hematuria, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemor... ORPHA:98879
Griscelli Syndrome Type 2
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Petechiae, I... ORPHA:79477
Phenylketonuria
Generalized hypopigmentation, Eczematoid dermatitis, Cataract, Blue irides, Fair hair OMIM:261600
Oculocutaneous Albinism Type 1
Iris transillumination defect, Abnormal morphology of the choroidal vasculature, Generalized hypo... ORPHA:352731
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment, Heterochromia iridis OMIM:616460
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Abnormal... ORPHA:3437
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Hypopigmentation of hair, Periodontitis, Silver-gray hair, Ocular albin... OMIM:214500
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation, Recurrent respiratory infections, Spleno... ORPHA:834
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa... OMIM:153670
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Enl... ORPHA:79414
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Anemia, Malar ... OMIM:620321
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Abnormal platelet function, Sinusitis, ... ORPHA:906
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Internal hemorrhage, Abnormality of the pul... ORPHA:90308
Blue Rubber Bleb Nevus
Arteriovenous malformation, Skin rash, Intestinal bleeding, Prolonged bleeding time, Microcytic a... ORPHA:1059
Sea-Blue Histiocyte Disease
Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia, Foam cells OMIM:269600
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Abnormal helix morphology, Multiple cafe-au-lait spots, Low-set, posteri... ORPHA:638
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, T lymphocytopen... OMIM:608971
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Recurrent respiratory infections, Nephrotic syndrome, Bon... ORPHA:505248
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia,... ORPHA:167
Fanconi Anemia, Complementation Group G
Anemia, Abnormality of chromosome stability, Multiple cafe-au-lait spots, Thrombocytopenia, Leuke... OMIM:614082
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Usher Syndrome Type 3
Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigmentation... ORPHA:231183
Sitosterolemia 1
Corneal arcus, Abnormal bleeding, Elevated circulating sitosterol concentration, Giant platelets,... OMIM:210250
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Episodic hemolyti... ORPHA:251004
Acatalasemia
Severe periodontitis, Old-aged sensorineural hearing impairment, Arteriosclerosis, Gingival bleed... ORPHA:926
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Vascular dilatation, Hypoplasia of the sem... OMIM:611584
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Chronic sinus... OMIM:300455
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hemolytic anemia, Foam cells, Normochromic anemia OMIM:245900
Tyrosinemia, Type I
Prolonged prothrombin time, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophos... OMIM:276700
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Recurrent lower re... 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
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia OMIM:185050
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Neutropenia, Hemophagocytosis, Maculopapular exanthema, Anemia, Petechiae, Sensorineural... ORPHA:540
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Gingival bleeding, Epistaxis, Bruising susceptibility, Recurrent re... ORPHA:352723
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Astigmatism, Hypopigmentation of hair, Ocular alb... ORPHA:79430
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Hematuria, Impaired platelet adhesion, Oral cavity bleeding, Menorrh... ORPHA:324636
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Recur... OMIM:618806
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal bleeding, Anemia, Epidural hemorrhage, Abnormal spleen morphology, Pleu... ORPHA:464329
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment ORPHA:3239
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Eosinophilia, Colonic eosinophilia... OMIM:617638
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Multiple lentigines, Hypermelanotic macule, Pancreatitis, Anemia, Abnormal propo... ORPHA:1830
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Sensorineural hearing impairment, Heteroch... OMIM:148820
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Usher Syndrome Type 1
Cataract, Sensorineural hearing impairment, Iris hypopigmentation, Abnormal cochlea morphology ORPHA:231169
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Eczematoid ... OMIM:269840
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Wyburn-Mason Syndrome
Vascular dilatation, Arteriovenous malformation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Igg4-Related Kidney Disease
Enlarged kidney, Increased circulating IgG4 level, Elevated circulating creatinine concentration,... ORPHA:449395
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease... ORPHA:859
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dyspla... OMIM:263200
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Neutrophilia, Th... OMIM:226990
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorr... OMIM:608836
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, S... ORPHA:999
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Gastritis, ... ORPHA:809
Atelis Syndrome 1
Irregular hyperpigmentation, Anemia, Microtia, Cataract, Eczematoid dermatitis, Cafe-au-lait spot... OMIM:620184
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Abnormal bleeding, Atherosclerosis, Dilatation of the cerebral artery ORPHA:91135
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Sensorineura... ORPHA:3214
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Hearing impairmen... ORPHA:897
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Pulmonary cyst OMIM:618272
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Ectopia le... OMIM:604571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Low-set ears, Decreased circulating IgG ... OMIM:614069
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Abnormal pupil morphology, ... ORPHA:54
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy OMIM:275400
Relapsing Fever
Prolonged prothrombin time, Acute kidney injury, Abnormal bleeding, Anemia, Hematuria, Elevated c... ORPHA:91547
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Wolfram Syndrome 2
Optic atrophy, Abnormal bleeding, Neurogenic bladder, Decreased circulating antibody level, Optic... OMIM:604928
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Arthritis, B lymphocytopenia, Decreased circulating antibody level, Bronc... ORPHA:397596
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Abnormal antihelix morphology, Cafe-au-lait spot, Protruding ear, Recurrent respiratory infection... ORPHA:3041
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Hearing impairment, Iris hypopigmentation, Cataract, Ab... ORPHA:2720
Proteus-Like Syndrome
Irregular hyperpigmentation, Bronchogenic cyst, Venous insufficiency, Heterochromia iridis, Catar... ORPHA:2969
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent... OMIM:616576
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Histiocytosis, I... OMIM:209950
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Chronic rhinit... OMIM:612444
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphopenia, ... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hearing impairment, Type IV atherosclerotic lesion OMIM:144300
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res... ORPHA:922
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Abnormal bleeding, Decreased glomerular filtration rate, Hyperuric... OMIM:232200
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract, Premature coronary artery atherosclerosis OMIM:618463
Obesity And Hypopigmentation
Red hair OMIM:620195
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Low-set, posteriorly rotated ears ORPHA:1390
Tonne-Kalscheuer Syndrome
Blue irides, Pulmonary hypoplasia OMIM:300978
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukopenia, Spleno... OMIM:603553
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ... OMIM:608184
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis, Atherosclerosis OMIM:610842
Common Variable Immunodeficiency
Chronic otitis media, Purpura, Emphysema, Recurrent bronchitis, Vasculitis, Decreased circulating... ORPHA:1572
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
H Syndrome
Hypertriglyceridemia, Corneal arcus, Enlarged kidney, Abnormality of the kidney, Recurrent pharyn... ORPHA:168569
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Microlissencephaly
Pneumonia ORPHA:1083
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Sensorineural hearing impairment, Aspiration pneumonia OMIM:609528
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, Nasal polyposis, Bronchiectasis, T lympho... OMIM:615518
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Emphysema, Pyoderma, Abnormally low T cell receptor excision ci... OMIM:242700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Hyper... OMIM:242900
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Total anomalous pulmonary venous return, Subarac... ORPHA:494424
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Immunodeficiency 92
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis... OMIM:619652
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Transposition of the great arteries, P... ORPHA:244
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Gm1-Gangliosidosis, Type Iii
Cherry red spot of the macula, Opacification of the corneal stroma, Splenomegaly, Foam cells OMIM:230650
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Iris hypopigmentatio... ORPHA:85194
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Corneal erosion, Decreased proportion of class-switched memory B... OMIM:614878
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Chronic rhinit... OMIM:244400
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Iris flocculi, A... OMIM:611788
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Bone-marrow foam cells, Foam cells with lamellar inclusion bodies, Spleno... OMIM:257200
Noonan Syndrome 4
Abnormal bleeding, Thickened helices, Low-set ears, Thrombocytopenia, Posteriorly rotated ears, B... OMIM:610733
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern, Foam cells ORPHA:264675
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Stroke, Pleural effusio... ORPHA:1163
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Asplenia, Pulmonary hypoplasia, Cystic ren... OMIM:615415
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Hyperpigmentation of the skin, Petechiae, Hypopigmenta... ORPHA:158029
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Abnormality of chromosome stability, Decreas... ORPHA:100
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Generalized hypopigmentation, Microcornea, Posteriorly rotated ear... OMIM:617306
Panbronchiolitis, Diffuse
Bronchiectasis, Foam cells OMIM:604809
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Anemia, Abnormal bleeding, Hyperuricemia, Tu... ORPHA:79259
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Decreased pro... OMIM:618394
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Hyperuricemia, Hyperlipidemia... ORPHA:35909
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613266
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture OMIM:601957
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Gastrointestinal hemorrhage, Increased serum bile acid conc... ORPHA:731
Riboflavin Transporter Deficiency
Iris hypopigmentation, Progressive hearing impairment ORPHA:97229
Juvenile Xanthogranuloma
Iritis, Myeloproliferative disorder, Multiple cafe-au-lait spots, Hyphema, Blepharitis, Asymmetry... ORPHA:158000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Crohn's disease, Arthr... OMIM:616100
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Coronary artery atherosclerosis, Sensorineural hearing impairment, Arterial stenosis, Cer... ORPHA:1192
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Ocular albinism, Low-set ears, Macrotia, Splenomegaly... OMIM:617050
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema, Abnormality of retinal pigmentation ORPHA:122
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Abnormal circulating lipid concentration, Decreased HDL cholesterol c... ORPHA:247598
Noonan Syndrome 13
Multiple lentigines, Recurrent otitis media, Low-set ears, Cafe-au-lait spot, Posteriorly rotated... OMIM:619087
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612925
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Heteroc... ORPHA:90646
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Fanconi Anemia, Complementation Group F
Anemia, Hyperpigmentation of the skin, Microtia, Cafe-au-lait spot, Bone marrow hypocellularity, ... OMIM:603467
Acute Radiation Syndrome
Abnormal bleeding, Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytopenia,... ORPHA:454831
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Edinburgh Malformation Syndrome
Low-set ears, Brushfield spots ORPHA:1895
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypoplasia, Horseshoe kidney, C... OMIM:608022
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of skin pigmentation, Atherosclerosis ORPHA:1979
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Premature graying of hair, Coronary artery atherosclerosis,... ORPHA:280679
Tangier Disease
Opacification of the corneal stroma, Splenomegaly, Atherosclerosis, Coronary artery atherosclerosis OMIM:205400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Anemia, Thrombocytopenia, Lymphopenia, Pulmonary fibrosis OMIM:620365
Macs Syndrome
Dilation of Virchow-Robin spaces, Recurrent aphthous stomatitis, Aortic aneurysm, Bruising suscep... OMIM:613075
Werner Syndrome
Premature graying of hair, Neoplasm of the lung, Pulmonary artery stenosis, White forelock, Abnor... ORPHA:902
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Splenomegaly, Panacinar emphysema OMIM:613490
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment ORPHA:85179
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Asplenia, Pulmonary hypoplasia, Splen... OMIM:208540
Saccharopinuria
Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnor... ORPHA:3124
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration ORPHA:90301
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Bronchiectasis, Sinusitis, T lymphocytopenia, Increased circulating IgM level, Pneu... OMIM:242860
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Bronchiectasis, Respiratory tract infection, Pulmonary fibrosis, M... ORPHA:79128
Lichen Planus Pemphigoides
Abnormality of the nail, Hypopigmented streaks ORPHA:254478
Farber Disease
Atelectasis, Anemia, Arthritis, Corneal opacity, CNS foam cells, Cherry red spot of the macula, H... ORPHA:333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Flynn-Aird Syndrome
Cataract, Atherosclerosis, Progressive sensorineural hearing impairment ORPHA:2047
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Impaired pla... OMIM:241200
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Elevate... ORPHA:79443
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal bleeding, Thickened helices, Low-set, posteriorly rota... ORPHA:648
Fish-Eye Disease
Splenomegaly, Corneal opacity, Atherosclerosis ORPHA:79292
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Macrotia, Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper respiratory tra... OMIM:620296
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Anemia, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent uri... ORPHA:93598
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu... ORPHA:2902
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Bloom Syndrome
Protruding ear, Azoospermia, Malar rash, Abnormality of chromosome stability, Hypopigmentation of... OMIM:210900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebr... ORPHA:91387
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Rhinitis, Recurrent sinusi... OMIM:615505
Frontofacionasal Dysplasia
Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma ORPHA:1791
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Vascular dilatation, Skin rash, Retinal hemorrhage, Arterial s... ORPHA:758
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening... ORPHA:79126
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Abnormal immunoglobulin level, Increased circulating IgG level, Decreas... ORPHA:276
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Pancreatitis, Coronary artery atherosclerosis, Decreased serum leptin,... ORPHA:280365
Hereditary Bullous Dystrophy, Macular Type
Hyperpigmentation of the skin, Corneal opacity, Cataract, Pneumonia, Spotty hypopigmentation ORPHA:1867
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Pulmonary hypoplasia, Urethral atresia OMIM:314390
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Brushfield spots ORPHA:1784
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p... ORPHA:328
Netherton Syndrome
Irregular hyperpigmentation, Emphysema, Skin rash, Decreased circulating antibody level, Increase... ORPHA:634
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Hypopigmentation of hair, Sensorineural hearing impairment, Corneal opacity, Choroideremi... ORPHA:2719
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Recurrent bronchitis, Increased serum beta-hexosaminidase, Hypopig... OMIM:252500
Gapo Syndrome
Hypopigmented skin patches, Keratoconus, Oligozoospermia, Low-set ears, Hearing impairment, Abnor... ORPHA:2067
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Premature graying of hair, Decreased cirrculating antimullerian hormone circ... OMIM:300845
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris,... OMIM:249310
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Hypoplasia of the thymus, Brushfield spots, Cataract, Opacification of... OMIM:214110
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Sensorineural hearing impairment, Abnormal helix morphology, Low-set ea... OMIM:214100
Muenke Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmenta... ORPHA:53271
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Irregular hyperpigmentation, Emphysema, Inflammatory abnormality of the ... ORPHA:36412
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Bron... OMIM:613193
Icf Syndrome
Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Low-set ears, ... ORPHA:2268
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Polysplenia, Pulmonary hypopla... OMIM:200995
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepato... OMIM:267700
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Anisocoria, Renal t... OMIM:613550
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Recurrent pneumonia, Oti... OMIM:613807
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Premature coronary artery atherosclerosis OMIM:620058
Hellp Syndrome
Prolonged prothrombin time, Acute kidney injury, Pulmonary edema, Decreased mean corpuscular hemo... ORPHA:244242
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Foam cells, Bone-marrow foam cells, CNS foam cells, Splenomegaly, Pulmona... OMIM:607625
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Pancreatitis, Atherosclerosis, Coronary artery atherosclerosis ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Coronary artery atherosclerosis, Prominent veins on trunk, Splenomegaly, Atheroscle... ORPHA:79083
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Stroke, Gastrointestinal hemorrhage, Precocious atherosclerosis ORPHA:230839
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru... ORPHA:335
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Vascular dilatation, Skin rash, Increased circulating IgE leve... ORPHA:2314
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Dicarboxylic aciduria, Decreased circulating carnitine concentration,... ORPHA:71212
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, B lymphocytopenia, Recurrent pneumonia, ... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Alstrom Syndrome
Hyperinsulinemia, Chronic active hepatitis, Progressive sensorineural hearing impairment, Sensori... OMIM:203800
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Decreased circulating go... ORPHA:98754
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Hypoplastic iris stroma, White forelock, White e... OMIM:193500
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Atherosclerosis ORPHA:2724
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Hyperca... ORPHA:116
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Zellweger Syndrome
Abnormal chorioretinal morphology, Sensorineural hearing impairment, Abnormal pinna morphology, C... ORPHA:912
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Vici Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Chronic mucocutaneous candidiasis, Oc... OMIM:242840
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul... OMIM:241600
Cholesteryl Ester Storage Disease
Splenomegaly, Arteriosclerosis ORPHA:75234
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Al-Raqad Syndrome
Low-set ears, Hypopigmentation of the skin OMIM:616459
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... ORPHA:183675
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Acquired Purpura Fulminans
Prolonged prothrombin time, Elevated circulating C-reactive protein concentration, Macular purpur... ORPHA:49566
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Decreased circulating go... ORPHA:98793
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Gout OMIM:610947
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Intraventricular hemorrhage, Bronchitis, Arthritis, C... ORPHA:420741
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Dynein arm defect of respiratory motile cilia, Bronchie... OMIM:614679
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Astigmatism, Chronic neutropenia, Retinal coloboma, Nephroblastoma, Transient ne... ORPHA:500095
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Decreased circulating go... ORPHA:177904
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Familial Dysautonomia
Corneal erosion, Corneal opacity, Heterochromia iridis, Abnormal pleura morphology, Recurrent res... ORPHA:1764
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Eosinophil... ORPHA:486
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating inhibin B concentration, Hypopigmentation of hair, Decreased circulating go... ORPHA:177901
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... OMIM:613808
Usher Syndrome Type 2
Cataract, Sensorineural hearing impairment, Iris hypopigmentation ORPHA:231178
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Bronchiolitis obl... OMIM:300755
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Dysbetalipoproteinemia
Corneal arcus, Type IV atherosclerotic lesion, Premature coronary artery atherosclerosis, Acute p... ORPHA:412
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Dicarboxylic aciduria, Decreased circulating c... ORPHA:99901
Koolen-De Vries Syndrome
Aortic root aneurysm, Anteverted ears, Eczematoid dermatitis, Macrotia, Iris hypopigmentation, Pa... OMIM:610443
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Naegeli-Franceschetti-Jadassohn Syndrome
Nail dystrophy, Decreased number of sweat glands, Dystrophic toenail, Hypopigmentation of the ski... ORPHA:69087
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Hematuria, Melena, Su... ORPHA:99147
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm... ORPHA:443811
8Q21.11 Microdeletion Syndrome
Corneal opacity, Low-set ears, Eczematoid dermatitis, Hearing impairment, Iris hypopigmentation, ... ORPHA:284160
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Coronary artery atherosclerosis ORPHA:79084
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
Nail-Patella Syndrome
Coronary artery dissection, Arthritis, Nephritis, Primary congenital glaucoma, Antecubital pteryg... ORPHA:2614
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Dicarboxylic aciduria, Hepatomegaly, Hyperbilirubinemia, Decreased ci... OMIM:613070
Spondyloenchondrodysplasia With Immune Dysregulation
Hypermelanotic macule, Recurrent otitis media, Purpura, Juvenile rheumatoid arthritis, Low-set ea... OMIM:607944
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent... OMIM:614935
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Crohn's disease, B lymphocytopenia, Decrea... OMIM:619705
Pneumocystosis