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Gene: Bloc1s4 MGI:1929230

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Gene Summary

Name:
biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Synonyms:
Blos4,  2610101N07Rik,  Cno

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
increased monocyte cell number Bloc1s4em1(IMPC)Mbp HOM Early adult 4.63×10-11
abnormal coat/hair pigmentation Bloc1s4em1(IMPC)Mbp HOM Early adult 3.09×10-21
decreased circulating total protein level Bloc1s4em1(IMPC)Mbp HOM Early adult 6.41×10-06
abnormal skin morphology Bloc1s4em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Bloc1s4em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bloc1s4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bloc1s4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon... OMIM:614072
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ... OMIM:614076
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Abnormal bleedin... OMIM:155100
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnorm... OMIM:614171
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Albinism, Epistaxis, Fair hair, Bruising susceptibility, Ocular albinism, Mela... OMIM:619172
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit... OMIM:607624
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggregation, H... OMIM:614074
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Nephronophthisis
Anemia, Renal insufficiency, Abnormality of retinal pigmentation ORPHA:655
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo... OMIM:620478
Glutathione Synthetase Deficiency
Reduced glutathione synthetase level, Pigmentary retinopathy, Neutropenia, Ataxia, Increased leve... OMIM:266130
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from ... OMIM:614077
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Hermansky-Pudlak Syndrome 6
Urinary incontinence, Epistaxis, Hypopigmentation of the skin, Bruising susceptibility, Ocular al... OMIM:614075
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Bleeding Disorder, Platelet-Type, 21
Alopecia, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaire... OMIM:617443
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Homocarnosinosis
Carnosinuria, Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Gemignani Syndrome
Impaired pain sensation, Hypoplasia of penis, Hypopigmented skin patches, Ataxia ORPHA:2074
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Hypopigmentation of the skin, Bruising susceptibility... OMIM:203300
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis OMIM:257800
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Fair hair, Enlarged platelet dense granules, Ocular albinism, ... OMIM:608233
Phenylketonuria
Hypopigmentation of the skin, Tremor, Phenylalaninuria, Hyperphenylalaninemia, Ataxia ORPHA:716
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Tietz Albinism-Deafness Syndrome
Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Blue irides... OMIM:103500
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia ORPHA:1178
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia OMIM:610798
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Retinopath... ORPHA:158029
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Paresthe... ORPHA:3318
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Ataxia... ORPHA:2585
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Alopecia, Central heterochromia, Long eyelashes, Retinal degeneration, Lo... OMIM:275400
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... OMIM:601399
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling, Generalized dystonia, Ataxia OMIM:619389
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality of retinal ... ORPHA:3156
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph... OMIM:603554
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaund... ORPHA:167
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Abnormality of retinal pigmentation, Hep... ORPHA:858
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Neutropenia, Ataxia, Hepatomegaly, Jaundice, Giant mel... OMIM:214500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, R... ORPHA:79476
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Long eyelashes, Retinal degenerati... ORPHA:3363
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy, Ataxia OMIM:610951
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia OMIM:551500
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Abnormality of ... OMIM:614307
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, R... OMIM:264470
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:256710
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,... ORPHA:381
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Fair hair, Increased level of hippuric acid i... OMIM:261600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Increased circulating lactate dehydrogenase c... OMIM:210250
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time ORPHA:638
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Chorea, Tremor, Dysmetria, Progressi... OMIM:164500
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... OMIM:251270
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Abnormal circulating calcium-phosphate regulating hormone concentration, Chorioretin... ORPHA:2196
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Bruising susceptibi... ORPHA:3226
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hypopigmentation of the skin, Fair hair, Splenomegaly, Hepatomegaly, Vacuolat... OMIM:269920
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hypopigment... ORPHA:101330
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:617613
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Aceruloplasminemia
Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased circulating cop... ORPHA:48818
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic ataxia, Jerky head ... ORPHA:251282
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Congenital Rubella Syndrome
Splenomegaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Hepatomegaly, ... ORPHA:290
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- ... OMIM:601706
Porphyria Variegata
Chronic kidney disease, Hypopigmentation of the skin, Elevated circulating hepatic transaminase c... ORPHA:79473
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia ORPHA:411515
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Nephrolithiasis, Generalized hirsutism,... ORPHA:1816
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... ORPHA:895
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Ataxia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycopro... OMIM:603585
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Leber Congenital Amaurosis 1
Hyperthreoninuria, Pigmentary retinopathy, Attenuation of retinal blood vessels, Hyperthreoninemi... OMIM:204000
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela... ORPHA:79399
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hydroureter, Sideroblastic anemia, Tremor, Hydronephrosis,... OMIM:222300
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Wolfram Syndrome 2
Optic atrophy, Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Decreased circulating ant... OMIM:604928
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Subcutaneous hemorrhage, Chorioretina... ORPHA:448237
Eem Syndrome
Sparse body hair, Abnormality of retinal pigmentation, Retinopathy, Absent eyebrow, Macular dystr... ORPHA:1897
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Red hair, Hyperinsulinemia, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Red hair, Hyperinsulinemia, Hypopigmentation of the skin ORPHA:71526
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Recurrent urinary tract infections, Impaired vibration sen... OMIM:609033
Johanson-Blizzard Syndrome
Anemia, Abnormal hair pattern, Alopecia, Hypoproteinemia ORPHA:2315
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Abnormality of chromosome stability, Pre... ORPHA:100
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Nail dystrophy, Splenomegaly, Elevated circulating creatine kinase concentration, A... OMIM:615895
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... ORPHA:816
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:480
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Chorea, Ataxia, Dystonia, Athetosis ORPHA:382
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Pigmentary retinopathy, Functional abnormality of the bladder, Hand... ORPHA:100996
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Hematuria, Internal hemorrhage, Hepatomegaly, Pro... ORPHA:90308
Jeune Syndrome
Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Abnormality of reti... ORPHA:474
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Abno... ORPHA:79430
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Hematochezia, Pigmentary retinopathy, Giant cell hepatitis, Cholelithi... ORPHA:79095
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Hyper... ORPHA:436271
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Elevated circulating creatine kinase concentration, Tremor, Ataxia OMIM:619473
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Narp Syndrome
Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Progressive gait ataxia, Rod-... ORPHA:644
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Reduced renal corticomedullary differentiation, Splenomegaly, Hepat... OMIM:618541
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hypertrichosis OMIM:235255
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, Increased circul... ORPHA:71212
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Hyper... OMIM:220110
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Positive Romberg sign, Cirrhosis, Rod-cone... ORPHA:14
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Azoospermia, Hypopigmentation of the skin, Hepatic failure ORPHA:261519
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Renal insufficiency, Abnormality of retinal pigmentati... ORPHA:2715
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation,... ORPHA:79133
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia... ORPHA:906
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Hepatocellular necrosis, Hypertrichosis, Ataxia, Dystonia OMIM:256000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Abnormal renal tubule mor... ORPHA:2720
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Abnormality of retinal pigmentation ORPHA:1117
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Long eyelashes, Hirsutism, Hypoplastic nipple... ORPHA:79329
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary aminoisobutyric acid, Elevated ... OMIM:614105
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Methylmalonic acidemia, Hom... OMIM:277400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Dysmetria, Tremor, Ataxia, Dystonia, Dysdiadochokinesis ORPHA:96
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Ataxia, Truncal ataxia, Dystonia OMIM:252011
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology... ORPHA:2584
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Vici Syndrome
Optic atrophy, Decreased circulating IgG level, Hypopigmentation of the skin, Abnormal macular mo... ORPHA:1493
Relapsing Fever
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Abnormal bleeding, Increased c... ORPHA:91547
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypoproteinemia ORPHA:1655
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Acute Radiation Syndrome
Hypopigmentation of the skin, Abnormal bleeding, Lymphopenia, Hyperpigmentation of the skin, Thro... ORPHA:454831
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperpigmentation of the s... ORPHA:75563
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow, Ataxia OMIM:617121
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Proximal tubulopathy, Mottled pigmentation of photoexposed areas, Polyuri... OMIM:560000
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Cholelithiasis, Hypertrichosis, Elevated circulating urop... OMIM:263700
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Laurence-Moon Syndrome
Micropenis, Pigmentary retinopathy, Chorioretinal atrophy, Ataxia OMIM:245800
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Trichohepatoenteric Syndrome 1
Cholestasis, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundice, Sparse hair, Hypospadia... OMIM:222470
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia, Tremor ORPHA:79254
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Abno... ORPHA:324636
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Ret... ORPHA:3437
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic s... OMIM:615980
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Pigmentary retinopathy, Elevated circulating creatine kinase concentration ORPHA:370968
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Abnorma... ORPHA:247815
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Alopecia, Leukopenia, Splenomegaly, Purpura, Hepatomega... ORPHA:809
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Pigmentary retinopathy, Macrovesicular hepatic steatosis OMIM:618234
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... OMIM:620565
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation, Hyperuricemia ORPHA:2801
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Impaired vibratory sensation, Hypocholesterolemia, Abnorma... ORPHA:96180
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Nephronophthisis, Stage 5 chronic kidney disease, ... OMIM:608629
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Menkes Disease
Alopecia, Hypopigmentation of the skin, Decreased circulating ceruloplasmin concentration, Brittl... OMIM:309400
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Abnormality of retinal pigmentation, Uncombable hair ORPHA:1264
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Gastrointestinal hemorrhage, Abnormality ... ORPHA:873
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnorm... OMIM:301000
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Pigmentary retinopathy, Impaired vibration sensation in the lower limbs, Posi... ORPHA:88628
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Abnormality of the upp... ORPHA:1807
Ramon Syndrome
Generalized hirsutism, Abnormality of retinal pigmentation ORPHA:3019
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Al-Raqad Syndrome
Hypopigmentation of the skin, Gait ataxia OMIM:616459
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Retinitis Pigmentosa 51
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613464
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Bloom Syndrome
Decreased circulating IgG level, Chromosome breakage, Hypopigmentation of the skin, Abnormality o... OMIM:210900
Alg3-Cdg
Dystonia, Hypopigmentation of the skin, Decreased liver function, Abnormal circulating enzyme con... ORPHA:79321
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia, Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1173
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia ORPHA:411511
Refsum Disease
Renal insufficiency, Splenomegaly, Abnormality of retinal pigmentation, Retinopathy, Nail dysplas... ORPHA:773
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Progressive gait ataxia, Blue irides, Limb tremor, Ataxia OMIM:105830
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal localization of kidney, Hypopigmented skin patches ORPHA:1825
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypochromic anemia, Increased circulating ferritin concentration, Microcy... OMIM:600462
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches, Hepatitis, Hypocalcemia, Agammaglobulinemia, Thrombocytopen... ORPHA:47
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Limb dysmetria ORPHA:329336
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Bardet-Biedl Syndrome 3
Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Abnormality of retinal pigmentation ORPHA:3085
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Reduced haptoglobin level, Poikilocytosis, Unconjugated hyperbilirubinemia... ORPHA:79277
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism, Generalized hypopigmentation ORPHA:352723
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Retinal pigment epithelial mottling, Abnormal macula... ORPHA:364055
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of the liver, Abnormality of retinal pigmentation ORPHA:44
Prolidase Deficiency
Abnormal fingernail morphology, White forelock, Splenomegaly, Abnormality of retinal pigmentation... ORPHA:742
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Limb ataxia, Distal sensory impairment, Tremor, Dysmetria, Elevated circu... OMIM:617675
Syndromic Diarrhea
Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dysplasia, ... ORPHA:84064
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Bone marrow hypocellularity, Decreased circulating IgG level, Hyp... ORPHA:505248
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Elevated circulating hepatic transaminase concentration, Pigmentary retinopathy, Sparse hair, Rod... OMIM:268020
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Macular coloboma, Methylmalonic acidemia, Renal... ORPHA:79282
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Nephrocalcinosis, Pigmentary retinopathy, Alopecia, Cholelithiasis, Vitilig... OMIM:240300
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopath... ORPHA:5
Noonan Syndrome
Coarse hair, Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Bruising susceptib... ORPHA:648
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Hypopigmentation of the skin, Hepatic steatosis, Reduced cyst... OMIM:236200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Tremor, Ataxia, Hypopigmentation of hair ORPHA:98794
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Jerky head movements, Ataxia, Dystonia, Choreoathetosis OMIM:245348
Progressive Supranuclear Palsy-Corticobasal Syndrome
Focal dystonia, Jerky head movements, Somatic sensory dysfunction, Tremor ORPHA:240103
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Increased circulating antibody l... ORPHA:91500
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Slc35A2-Cdg
Hypopigmentation of the skin, Elevated circulating hepatic transaminase concentration, Elevated c... ORPHA:356961
Multiple Sulfatase Deficiency
Optic atrophy, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Splenomegaly, Muc... ORPHA:585
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Hepatoerythropoietic Porphyria
Red-brown urine, Hypopigmentation of the skin, Abnormal bleeding, Facial hypertrichosis, Purple u... ORPHA:95159
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Small nail, Cholestasis, Hepatosplenomegaly, Elevated c... OMIM:614866
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen... ORPHA:3322
Huntington Disease-Like 3
Abnormal head movements, Chorea, Progressive gait ataxia, Urinary incontinence, Dystonia ORPHA:157946
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, R... ORPHA:90321
Mulibrey Nanism
Hepatomegaly, Pigmentary retinopathy, Iris coloboma, Nephroblastoma OMIM:253250
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Huntington Disease-Like 1
Abnormal head movements, Chorea, Gait ataxia, Dysmetria, Jerky head movements ORPHA:157941
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Kearns-Sayre Syndrome
Pigmentary retinopathy, Sideroblastic anemia, Renal tubular acidosis, Renal Fanconi syndrome, Ataxia OMIM:530000
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Hyperalaninemia, Hyperglycinemia OMIM:619059
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan... OMIM:309900
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Pigmentary retinopathy, Elevated circulating long chain fatty acid concentration, ... OMIM:214110
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:613156
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Renal cell carcinoma ORPHA:122
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Decreased liver function, Chorea, Abnormal circulating enzyme concentration... ORPHA:70472
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Hypopigmentation of the skin, Hirsutism, Opisthotonus, Ataxia, Micropenis, Choreoa... OMIM:614969
Macs Syndrome
Alopecia, Sparse eyebrow, Bruising susceptibility, Sparse hair, Prolonged bleeding time, Urethral... OMIM:613075
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Elevated circulating he... OMIM:609015
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Abnormal circulating enzyme concentration or activity,... ORPHA:79264
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi... OMIM:301068
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Pigmentary retinopathy, Chorea, Craniofacial dystonia, Ataxia, Opti... OMIM:617282
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Heimler Syndrome 1
Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the skin, Hypopigmentation... OMIM:242840
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Limb dystonia, Leg dystonia, Retin... ORPHA:157850
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Vesicoureteral reflux, Ataxia ORPHA:3208
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Renal insufficiency, Retinal degeneration, Bone spicule pig... OMIM:615986
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Somatic sensory dysfunction, Mildly elevated creatine kinase, Tremor, Dys... ORPHA:502423
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Retinal degeneration, Cone/cone-rod dystrophy, Renal cyst, Bone s... OMIM:615994
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Cohen Syndrome
Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h... ORPHA:193
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Optic atrophy, Hypoalbuminemia, Hypopigmentation of the skin,... OMIM:251300
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Optic atrophy, Pigmentary retinopathy, Hepatic failure, Chorea, Abnormality of Krebs cycl... ORPHA:255210
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Abnormal head movements OMIM:300624
Hypomelanosis Of Ito
Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Generalized dystonia, Opisthotonus, Rod-cone dystrophy, Optic disc pallor ORPHA:216866
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Ataxia ORPHA:578
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers in DNA, Renal ag... OMIM:227650
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi... OMIM:203100
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce... OMIM:613070
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Laryngeal dystonia, Low urinar... ORPHA:79443
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Liver Disease, Severe Congenital
Dry hair, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomeg... OMIM:619991
Jalili Syndrome