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.

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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
Inflammation of the large intestine, Freckles in sun-exposed areas, Albinism, Freckling, Restrict... OMIM:203300

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hearing impairment, Multiple cafe-au-lait spots, Hypopigmente... ORPHA:241
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Imm... OMIM:613496
Fechtner syndrome
Abnormal bleeding, Developmental cataract, Hematuria, Prolonged bleeding time, Thrombocytopenia, ... OMIM:153640
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Abnormality of the urinary system, Macrothrombocytope... OMIM:600208
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Waardenburg Syndrome, Type 2B
White forelock, Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair OMIM:600193
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Presenile... ORPHA:182050
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Bilateral sensorineural hearing impairment, Generalized hypopigme... OMIM:103500
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Albinism, Prolonged bleeding time, Absent foveal reflex, Recurrent upper respi... OMIM:614075
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tra... OMIM:613101
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613265
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets OMIM:608404
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Partial albinism, Piebaldism, Congenital sensorineu... OMIM:300700
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Neutropen... ORPHA:238459
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Sensorineural hearing impairment, Partial albi... ORPHA:998
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Severe Combined Immunodeficiency, X-Linked
Skin rash, T lymphocytopenia, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Death in childhood, Accumulation of... OMIM:607624
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Vasculitis, Decreased circulati... OMIM:308240
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, Hearing impairment, White forelock OMIM:172850
Hermansky-Pudlak Syndrome 2
Albinism, Neutropenia, Generalized hypopigmentation, Reduced natural killer cell activity, Chroni... OMIM:608233
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Albinism, Prolonged bleeding time, Ocular albinism, Epistaxis, Thrombocytopeni... OMIM:614074
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Immunodeficiency 20
Wheezing, Recurrent otitis media, Recurrent sinusitis, Reduced natural killer cell count, Recurre... OMIM:615707
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Decrea... ORPHA:2585
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Numerous pigmented f... OMIM:601706
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hearing impairment, Se... ORPHA:895
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Epistaxis, Fair hair, Impaired collagen-induced pla... OMIM:619172
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Abnormal hair morphology OMIM:113750
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Freckles in sun-exposed areas, Albinism, Freckling, Restrict... OMIM:203300
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Recurrent upper respir... ORPHA:69736
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Death in childhood, Accumulation of... OMIM:256710
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Restrictive ventilatory defect, Albinism, Pulmonary fibrosis, Bruising suscept... OMIM:614073
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Partially duplicated kidney, Gastrointestina... ORPHA:274
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Ascending aortic dissection, Patent ductus arteriosus, Posterior cere... OMIM:132900
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Neutropenia, Hypoalbuminemia, Anemia, Leukopenia, Wide nose, Neph... OMIM:617303
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibility, Recurren... ORPHA:3226
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Foam cells with lamellar inclusion bodies, Sea-blue histiocytosi... OMIM:607616
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Abnormal toenail ... ORPHA:89838
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hemophagocytosis, Premature graying of hair, Neu... ORPHA:79477
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Ab... OMIM:619374
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia, Recurrent bronchopulm... OMIM:610798
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:277580
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Hearing impairment, Cataract ORPHA:67048
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Acatalasemia
Vitiligo, Severe periodontitis, Microcytic anemia, Arteriosclerosis, Old-aged sensorineural heari... ORPHA:926
Nephronophthisis
Renal insufficiency, Abnormality of retinal pigmentation, Anemia ORPHA:655
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Autoinflammation With Infantile Enterocolitis
Skin rash, Diffuse alveolar hemorrhage, Pancytopenia, Thrombocytopenia, Reduced natural killer ce... OMIM:616050
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Aminoaciduria, Macrothrombocytopenia, Thrombocytopenia, Decrea... OMIM:603585
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Albinism, Ocular albinism, Epistaxis, Bruising ... OMIM:614076
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Decreased serum thromboxane B2, Bruising susceptibility, Ecch... OMIM:614158
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Hematuria, Joint hemo... ORPHA:98879
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Abnormality of neutrophils, Decreased circulati... ORPHA:381
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Hypopigmented skin patches, Wide nasal bridge, S... OMIM:148820
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Phenylketonuria
Fair hair, Cataract, Eczema, Generalized hypopigmentation, Blue irides OMIM:261600
Waardenburg Syndrome, Type 2D
Heterochromia iridis, Congenital sensorineural hearing impairment OMIM:608890
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hemophagocytosis, Abnormal dense granules, Spont... OMIM:214500
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Pneumonia, Plasma... OMIM:247800
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage, Pat... ORPHA:90308
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Increased circulating IgM level, Short nose, Enlarged kidney... ORPHA:505248
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Anteverted nares, Chronic bronchitis... OMIM:614069
Essential Thrombocythemia
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... ORPHA:3318
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Prolonged bleeding time, Abnormality of the helix, Multiple ca... ORPHA:638
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Large clumps of pigment irr... ORPHA:167
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Proteinuria, Abnormal ... ORPHA:251004
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Albinism, Ocular albinism, Epistaxis, Menorrhag... OMIM:614077
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Blue Rubber Bleb Nevus
Skin rash, Intestinal bleeding, Prolonged bleeding time, Microcytic anemia, Arteriovenous malform... ORPHA:1059
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Normochromic anemia, Opacification of the corneal stroma, Hemolytic anemia OMIM:245900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia... ORPHA:906
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, Hearing impairment, Whi... ORPHA:2884
Kaposiform Lymphangiomatosis
Abnormal bleeding, Multiple renal cysts, Abnormal lung morphology, Epidural hemorrhage, Enlarged ... ORPHA:464329
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Vitiligo, Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneum... OMIM:614700
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Abnormal proportion of naive CD4 T cells, Lymphopeni... ORPHA:1830
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Abnormal bleeding, Dyspnea, Gastrointestinal hem... ORPHA:79430
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair ORPHA:66633
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Generalized hypopigmentation, Epistaxis, Bruising susceptibility, Recurrent resp... ORPHA:352723
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Hematuria, Impaired platelet adhesion, Autoimmune thrombocytopenia, Joint hemorrh... ORPHA:324636
Hereditary Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requ... ORPHA:264675
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, L... ORPHA:3392
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Hemophagocytosis, Purpura, Decreased circulating antibody level, Erythroderma, Maculop... ORPHA:540
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pleuritis, Interstitial pneumon... ORPHA:449395
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Dyspnea, Pulmonary fibrosis, Hemolytic anemia, Purpura, Prolo... ORPHA:809
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Decreased response to growth hormone stimuation test OMIM:275400
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Panbronchiolitis, Diffuse
Foam cells, Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Hyperammonemia, Decreased plasma t... OMIM:608836
Schimke Immunoosseous Dysplasia
Bulbous nose, Lymphopenia, Arteriosclerosis, Neutropenia, Thrombocytopenia, Abnormal T cell morph... OMIM:242900
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Neutropenia, Abnormal trach... ORPHA:1163
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Astigmatism, Abnormal cochlea ... ORPHA:231183
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Microphakia, Ectopia lentis, Hypoplasia of the ir... OMIM:617319
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Hyperpigmentation of the ... ORPHA:158029
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Mental Retardation, Buenos Aires Type
Wide nasal bridge, Fair hair, Protruding ear, Blue irides, Prominent nose OMIM:249630
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Atherosclerosis, Splenomegaly ORPHA:650
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... ORPHA:999
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Wyburn-Mason Syndrome
Iris hypopigmentation, Subarachnoid hemorrhage, Epistaxis, Vascular dilatation, Hearing impairmen... ORPHA:53719
Tyrosinemia, Type I
Abnormal bleeding, Gastrointestinal hemorrhage, Enlarged kidney, Hypertyrosinemia, Hypophosphatem... OMIM:276700
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Recurrent respiratory infections, Spleno... ORPHA:834
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Decreased specific anti-polysaccharide antibody level, Auto... OMIM:300853
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Abnormal bleeding, Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma, Eosinophilia OMIM:617638
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Abnormality of the antihelix, Bulbous nose, Protruding ear, Cafe-au-lait spot, Broad nasal tip, R... ORPHA:3041
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Usher Syndrome Type 1
Iris hypopigmentation, Sensorineural hearing impairment, Abnormal cochlea morphology, Cataract ORPHA:231169
Methionine Malabsorption Syndrome
Tachypnea, White hair, Blue irides OMIM:250900
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, Hypopigmented skin patches ORPHA:3239
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:619220
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Enlarged kidney, Hepatomegaly, Asplenia, Pulmonary hypoplasia OMIM:615415
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Giant melanosomes in melanocytes, Ocular albinism, Astigmatism,... ORPHA:54
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, White hair, Ocular albinis... ORPHA:2720
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Neutropenia, Hyperuricemia, Hyperlipidemia, ... OMIM:232220
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Sensorineural hearing ... ORPHA:3214
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Sensorineural hearing impairment, Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmun... ORPHA:1572
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Red hair, Fair hair, Anteverted nares, Blue irides, Depressed nasal bridge OMIM:614613
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Relapsing Fever
Increased total bilirubin, Abnormal bleeding, Hematuria, Acute kidney injury, Leukocytosis, Eleva... ORPHA:91547
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Sinusitis, Splenomegaly, Recurrent respiratory infections OMIM:226990
Immunodeficiency 52
Coombs-positive hemolytic anemia, Bronchiectasis, Autoimmune thrombocytopenia, Decreased circulat... OMIM:617514
Edinburgh Malformation Syndrome
Brushfield spots, Short nose, Choanal atresia, Respiratory insufficiency, Anteverted nares ORPHA:1895
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Underde... ORPHA:894
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Recurrent respi... ORPHA:229717
Proteus-Like Syndrome
Abnormal pupil morphology, Irregular hyperpigmentation, Heterochromia iridis, Bronchogenic cyst, ... ORPHA:2969
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion, Hearing impairment, Corneal arcus OMIM:144300
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Glycogen Storage Disease Ia
Abnormal bleeding, Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipid... OMIM:232200
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased proportio... ORPHA:169160
Noonan Syndrome 4
Abnormal bleeding, Thickened helices, Thrombocytopenia, Posteriorly rotated ears, Bruising suscep... OMIM:610733
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
H Syndrome
Abnormality of the kidney, Bronchiectasis, Microcytic anemia, Enlarged kidney, Histiocytosis, Hyp... ORPHA:168569
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Increased circul... ORPHA:723
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Riboflavin Transporter Deficiency
Iris hypopigmentation, Sleep apnea, Progressive hearing impairment, Respiratory insufficiency ORPHA:97229
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Atherosclerosis OMIM:610842
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Autoim... OMIM:608184
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... OMIM:618986
Immunodeficiency 60
Bronchiectasis, Pulmonary infiltrates, Decreased circulating IgE, Pulmonary fibrosis, Decreased p... OMIM:618394
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Increased circulating procalcit... ORPHA:36238
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cou... ORPHA:747
Frontofacionasal Dysplasia
Brushfield spots, Short nose, Iris coloboma, Choanal atresia, Cataract, Microcornea, Limbal dermo... ORPHA:1791
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Iris flocculi, T... OMIM:611788
Alstrom Syndrome
Progressive sensorineural hearing impairment, Nephritis, Hyperinsulinemia, Pigmentary retinopathy... OMIM:203800
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation ORPHA:79095
Noonan Syndrome 13
Low-set, posteriorly rotated ears, Recurrent otitis media, Bruising susceptibility, Wide nasal br... OMIM:619087
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Premature graying of hair, Coronary artery atherosclerosis, Cataract, Cerebr... ORPHA:280679
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Whim Syndrome
Vitiligo, Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis,... ORPHA:51636
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Recurrent pneumonia, Acute kidney injury, Gastrointestinal hemorrhage, ... ORPHA:731
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Short nose, Ocular albinism, Corneal opacity, Ca... ORPHA:2719
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Hematuria, Joint hemorrhage, Gastrointestinal hemorrhage, Bleed... ORPHA:35909
Pierson Syndrome
Hypoplasia of the ciliary body, Hypoproteinemia, Posterior lenticonus, Microcoria, Hypoplasia of ... OMIM:609049
Wolfram Syndrome 2
Neurogenic bladder, Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-in... OMIM:604928
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Emphysema, Lymphopenia, Pyoderma, R... OMIM:242700
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Hyphema, Myeloproli... ORPHA:158000
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Spotty hyperpigmentation, Atherosclerosis OMIM:614008
Spondylo-Ocular Syndrome
Iris hypopigmentation, Abnormality of the antihelix, Thickened helices, Cataract, Aplasia/Hypopla... ORPHA:85194
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
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis... OMIM:615518
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Chronic ne... ORPHA:79259
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Exertional dyspnea, Patent ductus ... ORPHA:229
Acrofrontofacionasal Dysostosis
Brushfield spots, Broad nasal tip, Hypopigmented skin patches ORPHA:1784
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... OMIM:613179
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Encephalitis, Leukopen... OMIM:603553
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613266
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Double outlet ri... OMIM:618254
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Atheroscl... ORPHA:494424
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Trach... OMIM:608022
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Conductive hearing impairment, Recurren... OMIM:616726
Waardenburg Syndrome, Type 1
Heterochromia iridis, Premature graying of hair, White eyebrow, Underdeveloped nasal alae, Wide n... OMIM:193500
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy, Abnormality of hair texture OMIM:601957
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Decrea... OMIM:616100
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polysplenia, Hepatomegaly, Renal dysplasia, Ureteral atresia, Asplenia, Pulmonar... OMIM:208540
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Tangier Disease
Atherosclerosis, Opacification of the corneal stroma, Coronary artery atherosclerosis, Splenomegaly OMIM:205400
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Tracheoesophageal fistula, Enlarged kidney OMIM:314390
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Heterochromia iridis, Premature grayi... ORPHA:3440
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Fatiguable weakness of proximal limb muscles, Cough, Respiratory failure requiring assis... ORPHA:90117
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Sensorineural hearing impairment, Cerebral artery atherosclerosi... ORPHA:1192
Vici Syndrome
Cutaneous anergy, Hypopigmentation of hair, Albinism, Developmental cataract, Decreased proportio... OMIM:242840
Gm1-Gangliosidosis, Type Iii
Foam cells, Opacification of the corneal stroma OMIM:230650
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Catarac... ORPHA:79443
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia ORPHA:85179
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Abnormal lung morphology, Respiratory distress, Abnormal respi... ORPHA:70589
Hermansky-Pudlak Syndrome 10
Apnea, Albinism, Macrotia, Ocular albinism, Neutropenia, Abnormal pulmonary interstitial morpholo... OMIM:617050
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Conductive hearing impairment, Nasal polyp... OMIM:244400
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Atherosclerosis, Premature graying of hair ORPHA:1979
Farber Disease
Respiratory distress, Abnormal conjunctiva morphology, Recurrent upper respiratory tract infectio... ORPHA:333
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Gastrocutaneous Syndrome
Melanocytic nevus, Coronary artery atherosclerosis, Multiple cafe-au-lait spots, Multiple lentigi... ORPHA:2069
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Short nose, Bronchiectasis, Pneumonia, Reduce... OMIM:242860
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612926
Gapo Syndrome
Keratoconus, Choanal atresia, Atherosclerosis, Hearing impairment, Hypopigmented skin patches, An... ORPHA:2067
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Cough, Decreased propor... ORPHA:276
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Posterior embryotoxon, Corneal opacity, Resp... ORPHA:912
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Foam cells with lamellar inclusion bodies, Microcytic anemia, Sea-blue hi... OMIM:257200
Macs Syndrome
Urethral stenosis, Prolonged bleeding time, Bronchiectasis, Bruising susceptibility OMIM:613075
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Lichen Planus Pemphigoides
Abnormality of the nail, Hypopigmented streaks ORPHA:254478
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Brushfield spots, Pigmentary retinopathy, Hypoplasia of the thymus, Cataract, Opacificatio... OMIM:214110
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Cataract, Atherosclerosis ORPHA:2047
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Mental Retardation, Autosomal Recessive 38
Blue irides OMIM:615516
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglome... OMIM:241200
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Accelerated atherosclerosis, Premature graying of hair, Coronary artery a... ORPHA:280365
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Hyperlipoproteinemia, Type Iv
Precocious atherosclerosis OMIM:144600
Avian Influenza
Cough, Pneumonia, Leukopenia, Ground-glass opacification, Respiratory distress, Thrombocytopenia,... ORPHA:454836
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Acrocephalopolydactylous Dysplasia
Short nose, Cystic renal dysplasia, Enlarged kidney, Polysplenia, Hepatomegaly, Pulmonary hypopla... OMIM:200995
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma, Abnormal... OMIM:614866
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Decreased proportion of CD8-positive T cells, Chronic oral candidiasis,... ORPHA:911
Fish-Eye Disease
Corneal opacity, Atherosclerosis, Splenomegaly ORPHA:79292
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Pneumonia, Maculopapular exanthema, Neutropenia, ... ORPHA:228119
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Abdominal aortic aneurysm, Abnorma... ORPHA:91387
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Hematuria, Gastrointestinal hemorrhage, Prolo... ORPHA:328
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Proximal tubulopathy, Hypocholesterolemia, Hepatomegaly, Renal cyst, Decreased ci... OMIM:212065
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Irregular hyperpigmentation, Dyspnea, Small vessel vas... ORPHA:36412
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Double outlet right ventricle, Chronic sinusitis, Anom... ORPHA:244
Menkes Disease
Sparse hair, Death in childhood, Hypopigmentation of the skin OMIM:309400
Muenke Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmented ... ORPHA:53271
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Absent eyebrow, Sparse axillary hair, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Patent ductus arteriosus, Posteriorly rotated ears, Cat... OMIM:214100
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Myocarditis ORPHA:2724
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Coronary artery atherosclerosis, Pancreatitis, Splenomegaly ORPHA:2348
Nephronophthisis 11
Nephronophthisis, Anisocoria, Polyuria, Retinal degeneration, Renal tubular atrophy, Renal cortic... OMIM:613550
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Melanocytic nevus, Polycythemia, Vi... ORPHA:116
Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Atherosclerosis, Laryngomalacia, ... ORPHA:902
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Abnormality of retinal pigmentation, Pneumothorax ORPHA:122
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Underdeveloped nasal alae, Corneal opacity, Cataract, Hearing impairment, ... ORPHA:284160
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Coronary artery atherosclerosis, Pancreatitis, Splenom... ORPHA:79083
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Sleep apnea, Hypoventilation, Hyperinsulinemia, ... OMIM:176270
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Central apnea, R... ORPHA:98754
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Corneal opacity, Pneumonia, Cataract, Hyperpigmentation of the skin ORPHA:1867
Pseudoxanthoma Elasticum
Skin rash, Gastrointestinal hemorrhage, Bruising susceptibility, Vascular dilatation, Atheroscler... ORPHA:758
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Retinal coloboma, Chronic neutropenia, Multicys... ORPHA:500095
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Patent ductus arteriosus, Pneumonia, Thrombocytopenia, Hyperpigmen... OMIM:603467
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Respiratory distress, Short nose, Patent ductus ... ORPHA:177907
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Central apnea, R... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Central apnea, R... ORPHA:177904
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Periodontitis, Lymphopenia, Leukemia, Pneumonia, Neutropenia, Recurrent sinopulmonar... ORPHA:486
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Decreased circulating T4 level, Central apnea, R... ORPHA:177901
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Cerebellar hemorrhage, Thrombocytopenia, Fatigable weakness, Elevated... ORPHA:99901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia, Increased circulating ... ORPHA:71212
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Interstitial pneumonit... OMIM:615952
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, An... OMIM:300209
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated calcit... OMIM:101800
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Cholesteryl Ester Storage Disease
Arteriosclerosis, Splenomegaly ORPHA:75234
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Obstructive sleep apnea, Decreased circulating T... ORPHA:398073
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Koolen-De Vries Syndrome
Pear-shaped nose, Iris hypopigmentation, Bulbous nose, Overfolded helix, Macrotia, Patent ductus ... OMIM:610443
Down Syndrome
Acute megakaryocytic leukemia, Brushfield spots, Conductive hearing impairment, Myeloproliferativ... OMIM:190685
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, B ... OMIM:603554
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Acute kidney injury, Decreased mean corpuscu... ORPHA:244242
Classical-Like Ehlers-Danlos Syndrome Type 1
Precocious atherosclerosis, Bruising susceptibility, Gastrointestinal hemorrhage ORPHA:230839
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Neutrop... ORPHA:33110
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis, Hyperinsulinemia, Pancreatitis ORPHA:79084
Q Fever
Pericarditis, Cough, Maculopapular exanthema, Pneumonia, Anemia, Myocarditis, Osteomyelitis, Endo... ORPHA:781
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Wide nasal bridge, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Corneal erosion, Ulcerative colitis, Cataract, Decreased... OMIM:614878
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Bloom Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Spotty hypopigmentation, Chronic lu... OMIM:210900
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Spondyloenchondrodysplasia With Immune Dysregulation
Vitiligo, Restrictive ventilatory defect, Hypopigmented skin patches on arms, T lymphocytopenia, ... OMIM:607944
Duane Retraction Syndrome
Abnormal pupil morphology, Aniridia, Central heterochromia, Irregular hyperpigmentation, Choriore... ORPHA:233
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Congenital Fibrinogen Deficiency
Abnormal bleeding, Developmental cataract, Splenic rupture, Internal hemorrhage, Bruising suscept... ORPHA:335
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Absent outer ... OMIM:613193
Dysbetalipoproteinemia
Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic le... ORPHA:412
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Netherton Syndrome
Skin rash, Irregular hyperpigmentation, Increased circulating IgE level, Decreased circulating an... ORPHA:634
Noonan Syndrome
Abnormal bleeding, Melanocytic nevus, Hepatomegaly, Pulmonary artery stenosis, Abnormal platelet ... ORPHA:648
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Alkaptonuria
Abnormality of skin pigmentation, Prostatitis, Irregular hyperpigmentation, Atherosclerosis, Coro... ORPHA:56
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Pn... OMIM:602450
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Elevated circula... ORPHA:49566
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Abnormal pleura morphology, Corneal opacity, Abnormal pupi... ORPHA:1764
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Nail-Patella Syndrome
Lester's sign, Abnormal iris pigmentation, Primary congenital glaucoma, Coronary artery dissectio... ORPHA:2614
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Hematuria, Joint hemorrhage, Gastrointestin... ORPHA:99147
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Cough, Chronic otitis media, Absent inner and oute... OMIM:618063
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Thrombocytopenia, Fatigable... ORPHA:169105
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Dent Disease
Hematuria, Renal hypophosphatemia, Hypercalciuria, Chronic kidney disease, Elevated circulating c... ORPHA:1652
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Usher Syndrome Type 2
Iris hypopigmentation, Sensorineural hearing impairment, Cataract ORPHA:231178
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Niemann-Pick Disease, Type C2