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Gene: Dtnbp1 MGI:2137586

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Gene Summary

Name:
dystrobrevin binding protein 1
Synonyms:
sdy,  Bloc1s8,  5430437B18Rik,  dysbindin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.09×10-07
abnormal coat/hair pigmentation Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 5.49×10-19
decreased exploration in new environment Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 9.16×10-05
abnormal iris pigmentation Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 1.98×10-18
increased fasting circulating glucose level Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 6.49×10-06
abnormal uterus morphology Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating glucose level Dtnbp1tm1b(EUCOMM)Hmgu HOM   Early adult 6.04×10-05
impaired glucose tolerance Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 8.06×10-05
increased lymphocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.33×10-05
decreased grip strength Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 7.25×10-05
increased neutrophil cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 3.10×10-12
increased circulating phosphate level Dtnbp1tm1b(EUCOMM)Hmgu HOM   Early adult 3.24×10-05
increased leukocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 4.89×10-08

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Combined SHIRPA and Dysmorphology

Images

33 Images

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X-ray

XRay Images Hind Leg and Hip

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Histopathology

Images

4 Images

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Eye Morphology

Images Slit Lamp

4 Images

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Human diseases caused by Dtnbp1 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 Dtnbp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hermansky-Pudlak Syndrome 7
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Albinism, Impaired platelet aggregat... OMIM:614076

The table below shows human diseases predicted to be associated to Dtnbp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hai... OMIM:614072
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin, Leukopenia, Abnormal platelet aggregation, Thrombo... OMIM:614171
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent... OMIM:615707
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... OMIM:214450
Hermansky-Pudlak Syndrome 5
Ocular albinism, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Albinism, Impaire... OMIM:614074
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Hermansky-Pudlak Syndrome 7
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Albinism, Impaired platelet aggregat... OMIM:614076
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Fair hair, Ocular albinism, Bruising susceptibili... OMIM:619172
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, ... OMIM:153640
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hermansky-Pudlak Syndrome 6
Absent foveal reflex, Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Abn... OMIM:614075
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Nephronophthisis
Anemia, Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Thrombocytopenic Purpura, Autoimmune
Abnormal bleeding, Thrombocytopenia OMIM:188030
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Bruising susceptibility, Nephropathy, Congenital thromboc... ORPHA:182050
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:617443
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, T... OMIM:314050
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Thrombocytopenia 2
Bruising susceptibility, Thrombocytopenia, Leukocytosis OMIM:188000
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... OMIM:615008
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Hermansky-Pudlak Syndrome 8
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Hypoplasia of the fovea... OMIM:614077
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:300400
Thrombocytopenia, Cyclic
Cyclic neutropenia, Abnormal bleeding, Thrombocytopenia, Neutropenia OMIM:188020
Slc35A1-Cdg
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Neutropenia, T... ORPHA:238459
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Recurrent bacterial inf... OMIM:607624
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... OMIM:300291
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections ORPHA:90023
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Partially duplicated kidney, Petechiae, Hematem... ORPHA:274
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deterioration, Shuffling... ORPHA:412066
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Iris hypopigmentation, Thrombocytopenia, Cataract ORPHA:67048
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Melanocytic nevus ORPHA:3319
Von Willebrand Disease, Type 1
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... OMIM:193400
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Carnosinuria OMIM:236130
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Hermansky-Pudlak Syndrome 1
Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Hypopigmentation of hair,... OMIM:203300
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation, Self-mutilation, Anxiety, Maternal hyperphe... OMIM:261600
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Fair hair, Ocular albinism, Splenomegaly, Generalized hypopigme... OMIM:608233
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Abnormal bleeding, Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Immunodeficiency 40
Lymphopenia OMIM:616433
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... OMIM:619374
Immunodeficiency 8
Lymphopenia OMIM:615401
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Urocanase Deficiency
Aggressive behavior, Fair hair, Blue irides OMIM:276880
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Oliver-Mcfarlane Syndrome
Sparse hair, Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Pigmentary retinopathy... OMIM:275400
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Decreased ... OMIM:619281
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Griscelli Syndrome Type 2
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial al... ORPHA:79477
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Chorioretinal hypopigmentation, Hypopigmentation of hair, Iris tran... OMIM:619165
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of thrombocytes, Thrombocyt... ORPHA:721
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Persistent Placoid Maculopathy
Retinal pigment epithelial mottling, Choroidal neovascularization, Abnormal macular morphology, H... ORPHA:97341
Storage Pool Platelet Disease
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia OMIM:615483
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... OMIM:137560
Malaria
Retinopathy, Anemia, Thrombocytopenia, Acute kidney injury ORPHA:673
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures, Irritability OMIM:146200
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria, Macrothrombocytopenia,... OMIM:603585
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy... ORPHA:859
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, ... OMIM:193510
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephrolithiasis, Abnormal calcium-phosphate regulating hormone level, Abnormality of retinal pigm... ORPHA:2196
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, ... ORPHA:381
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy, Neutro... OMIM:266130
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... OMIM:210250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Alopecia, Recurrent upper re... OMIM:615559
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:613554
Forsythe-Wakeling Syndrome
Thrombocytopenia, Nephrotic syndrome OMIM:613606
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Autoimmune Hypoparathyroidism
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctiv... ORPHA:36913
Congenital Factor Ii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... ORPHA:325
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leukemia, Prolonge... ORPHA:3318
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal hair quantity, Alopecia, Abnormal penis morphology, Cognitive impair... ORPHA:457059
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time ORPHA:638
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Griscelli Syndrome Type 1
Hyperlipidemia, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Hypospadias, Diabetes mellitus, Cryptorchidism, Red hair OMIM:614613
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis OMIM:616176
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Splenomegaly, Hypopigmentation of the skin, Retinopathy, Abnor... ORPHA:158029
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig... ORPHA:177910
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natural killer cell... OMIM:308240
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Recurrent upper respiratory tract infections, Abnormal natural killer cell p... OMIM:613101
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormal bleeding, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Acquired Partial Lipodystrophy
Insulin resistance, Generalized hirsutism, Lymphocytosis ORPHA:79087
Wolfram Syndrome 2
Optic neuropathy, Impaired collagen-induced platelet aggregation, Abnormal bleeding, Optic atroph... OMIM:604928
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Ataxia-Telangiectasia
Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Cognitive impairment, Hypopigm... ORPHA:100
Refractory Anemia
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Erythroid hypoplasia, Macr... ORPHA:98826
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Retinal dystrophy,... ORPHA:3156
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Hypogonadism OMIM:612462
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctiv... ORPHA:94089
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia, Irritability OMIM:239350
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Immunodeficiency 19
Lymphopenia OMIM:615617
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Sea-Blue Histiocyte Disease
Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis ORPHA:3327
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Iris transil... OMIM:309300
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... ORPHA:1433
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Pseudohypoparathyroidism, Type Ia
Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Hypogonadism OMIM:103580
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Chédiak-Higashi Syndrome
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... ORPHA:167
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Diabetic ketoac... OMIM:262190
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anem... ORPHA:54057
Chediak-Higashi Syndrome
Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal dense gra... OMIM:214500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Hydroureter, Optic atrophy, Hydronephrosis, Neutropen... OMIM:598500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Methionine Malabsorption Syndrome
White hair, Positive ferric chloride test, Blue irides OMIM:250900
Eem Syndrome
Sparse scalp hair, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body hair, Retinop... ORPHA:1897
Usher Syndrome Type 3
Iris hypopigmentation, Anxiety, Cataract, Astigmatism ORPHA:231183
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Zika Virus Disease
Absent foveal reflex, Subcutaneous hemorrhage, Retinal pigment epithelial mottling, Chorioretinal... ORPHA:448237
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Hypopigmentation of hair ORPHA:411515
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Iris transillumination de... OMIM:617319
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Hermansky-Pudlak Syndrome 4
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Hypoplasia of the fovea... OMIM:614073
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... ORPHA:897
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Wt Limb-Blood Syndrome
Hypoplastic anemia, Irregular hyperpigmentation, Pancytopenia, Thrombocytopenia, Leukemia OMIM:194350
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Abnormality of retinal pigmentation ORPHA:858
Wiskott-Aldrich Syndrome
Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage... ORPHA:906
Klippel-Trénaunay Syndrome
Hematuria, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedin... ORPHA:90308
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612925
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuati... ORPHA:49382
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Microphthalmia, Isolated 5
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... OMIM:611040
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Vitiligo, Abnorma... ORPHA:3437
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Abnormal macular morphology, Bone-marrow foam cells, Anemia... OMIM:607616
Usher Syndrome Type 1
Iris hypopigmentation, Anxiety, Cataract ORPHA:231169
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, A... ORPHA:94093
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Fair hair, Blue irides, Hypospadias, Hyperphosphatemia, Diabetes mellitus, Cryptorc... ORPHA:280651
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Alopecia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Mental Retardation, Buenos Aires Type
Fair hair, Blue irides, Hypospadias, Curly eyelashes, Hyperconvex thumb nails, Long eyelashes OMIM:249630
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Waardenburg Syndrome, Type 3
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... OMIM:148820
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Increased red blood cell m... OMIM:263300
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Hyperpi... OMIM:604250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures OMIM:241410
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612922
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Bone marrow hypocel... ORPHA:88
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia, Anemia, Aplasia/Hypoplasia o... ORPHA:290
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Generalized hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, Ir... ORPHA:2720
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612926
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Hy... OMIM:606069
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Abnormal cornea morphology, Hypophosphatemia, Mental deterioration, Iris colob... ORPHA:2611
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Lipodystrophy, Familial Partial, Type 3
Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovaries, Decreased HDL cholest... OMIM:604367
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Irregular hyperpigmentation, Alopecia, Anxiety, Abnormal fingernail... ORPHA:428
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Acute kidney injury, Proteinuria, Thrombocytop... ORPHA:275555
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Wiskott-Aldrich Syndrome
Melena, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hypersensitivit... OMIM:301000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Depression, Memory impairment, Dementia OMIM:604121
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Cognitive impairment, Abnormality of retinal pigmentation, Synophrys, Heterochromia iridis ORPHA:1390
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, External genital hypoplasia, Micropenis, Self-mutilation, Frontal balding, Early bal... ORPHA:3041
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis, Hyperpigmentation of the skin... ORPHA:75563
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Hypoplasia of penis, Astigmatism, Hyperphosphatemia, Cryptorchidism ORPHA:2323
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Amed Syndrome, Digenic
Leukopenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Thrombocytopenia,... OMIM:619151
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Optic atrophy, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Polycystic... ORPHA:2298
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... OMIM:300367
Wolfram Syndrome 1
Megaloblastic anemia, Hydroureter, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Hydro... OMIM:222300
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Sengers Syndrome
Thrombocytopenia, 3-Methylglutaconic aciduria OMIM:212350
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor, A... OMIM:611490
Relapsing Fever
Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Abnormality of the urinary system, Hem... ORPHA:91547
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Aminoaciduria, Cone/cone-rod dystrophy, Optic atrophy... OMIM:249270
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Blue irides, Self-mutilation OMIM:615516
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly eyelashes, Chronic... OMIM:258360
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Tufted Angioma
Hypertrichosis, Petechiae, Purpura, Anemia, Thrombocytopenia ORPHA:1063
Riboflavin Transporter Deficiency
Iris hypopigmentation, Aggressive behavior, Hypogonadism ORPHA:97229
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt... OMIM:603909
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Hyperphosphatemia, Hypogonadism, Melanocytic nevus, Cryptorchidism OMIM:101800
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Isovaleric Acidemia
Hyperglycinuria, Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Th... OMIM:243500
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... ORPHA:999
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Hypoplasia o... OMIM:611584
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Alopecia, Retinopathy, Leukopenia, Aplastic anemia, Fine hair, Pancytopenia, Bone... OMIM:613990
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Mixed Connective Tissue Disease
Splenomegaly, Alopecia, Leukopenia, Nephropathy, Hemolytic anemia, Purpura, Gastrointestinal hemo... ORPHA:809
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Hyperglycemia OMIM:618970
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Mgat2-Cdg
Hirsutism, Decreased circulating IgG level, Abnormal bleeding, Hypoplastic nipples, Impaired lymp... ORPHA:79329
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Noonan Syndrome 13
Generalized hirsutism, Hypertrichosis, Head-banging, Blue irides, Broad eyebrow, Anxiety, Multipl... OMIM:619087
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Hemolytic-uremic syndrome OMIM:614727
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia, Hypoplasia of the iris OMIM:612783
Edinburgh Malformation Syndrome
Generalized hirsutism, Hirsutism, Synophrys, Brushfield spots, Low posterior hairline ORPHA:1895
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Pigmentary retinopathy, Hyperglycemia OMIM:520000
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Generalized hyperpig... ORPHA:3322
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Irritability, Hypergonadotropic hypogonadism, Anxiety, Hypocalcemic tetany, Hyperph... ORPHA:79444
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormal vagina morphology, Hypopigmentation of hair, Abnormality of... ORPHA:3440
Rhabdoid Tumor
Renal neoplasm, Hematuria, Internal hemorrhage, Anemia, Thrombocytopenia ORPHA:69077
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Abnormality of retinal pigmentation ORPHA:1117
Jeune Syndrome
Abnormality of retinal pigmentation, Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Reticulated skin pig... OMIM:613987
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Optic atrophy, Renal insufficiency, Anemia, Thrombocytopenia ORPHA:27
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Retinitis Pigmentosa
Hyperinsulinemia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypo... ORPHA:791
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Leukopenia, Aplastic anemia, Urethral stricture, Pancytopenia, Nail dystrophy, Ne... OMIM:613989
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Classic Phenylketonuria
Self-injurious behavior, Mental deterioration, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:79254
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Hyperpigm... ORPHA:3214
Leigh Syndrome With Leukodystrophy
Optic atrophy, Anemia, Hypertrichosis, Pigmentary retinopathy ORPHA:255241
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Developmental cataract, Transient hypophosphatemia, Anemia OMIM:127000
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Aminoaciduria OMIM:614946
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... ORPHA:98754
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Waardenburg Syndrome, Type 4C
Blue irides, Cryptorchidism, White eyebrow, White eyelashes, Heterochromia iridis, White forelock... OMIM:613266
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Alopecia, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopen... ORPHA:169154
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation, Splenomegaly ORPHA:834
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... ORPHA:98793
X-Linked Recessive Ocular Albinism
Ocular albinism, Abnormal pupil morphology, Astigmatism, Giant melanosomes in melanocytes, Iris h... ORPHA:54
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Fingernail dysplasia ORPHA:1259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... ORPHA:177904
Waardenburg Syndrome, Type 1
Aplasia of the vagina, Hypoplastic iris stroma, Thick eyebrow, Blue irides, Partial albinism, Whi... OMIM:193500
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... ORPHA:177901
Acute Promyelocytic Leukemia
Petechiae, Leukocytosis, Bruising susceptibility, Abnormal bleeding, Diffuse alveolar hemorrhage,... ORPHA:520
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy ORPHA:49827
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature graying of hair, Reticular hyperpigmentation, Lymphopenia, Sparse hair, Alop... OMIM:127550
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Hemolytic anemia, Lupus nephritis, Thrombocytopenia OMIM:152700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level, Alopecia OMIM:616576
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia ORPHA:108
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Membranoprol... OMIM:619644
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Band keratopathy, Irritability, Hypergonadotropic hypogonadism, Anxiety, Hypocalcem... ORPHA:79443
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Enlarged kidney, Optic atrophy, Long eyelashes, Proteinuria, Bone marrow hypocellula... OMIM:617303
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus OMIM:614162
Noonan Syndrome 4
Blue irides, Sparse eyebrow, Bruising susceptibility, Abnormal bleeding, Ureteral duplication, Hy... OMIM:610733
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus, Opacification... OMIM:214110
Transaldolase Deficiency