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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
abnormal skin morphology Bloc1s4em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Bloc1s4em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/hair pigmentation Bloc1s4em1(IMPC)Mbp HOM Early adult 4.16×10-21

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of the skin, Hypopigmentation of hair, Spontaneous, recurrent... OMIM:614072
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental extraction, Albinism, Ocular ... OMIM:614076
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Abnormality of... OMIM:155100
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa... OMIM:614075
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Hermansky-Pudlak Syndrome 9
Ocular albinism, Abnormal platelet aggregation, Leukopenia, Hypopigmentation of the fundus, Hypop... OMIM:614171
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platele... OMIM:619172
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... OMIM:607624
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi... OMIM:614074
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency, Anemia ORPHA:655
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet ... OMIM:187800
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Myh9-Related Disease
Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal i... ORPHA:182050
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Optic atrophy, Premature... ORPHA:33445
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine... OMIM:266130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... OMIM:614077
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Gemignani Syndrome
Hypoplasia of penis, Ataxia, Impaired pain sensation, Hypopigmented skin patches, Abnormal testis... ORPHA:2074
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg... OMIM:617443
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... OMIM:277480
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Athetosis, Hypopigmentation of the skin OMIM:257800
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed a... OMIM:203300
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Hepatome... OMIM:608233
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Hypoplasia of penis, Long eyebrows, Cryptorchidism, Pigmentary r... OMIM:275400
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia ORPHA:1178
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Hyperpigmentation of the skin, Petechiae, Splenomegaly, Sea-blue... ORPHA:158029
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia OMIM:610798
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, A... ORPHA:2585
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Ataxia, Cryptorchidism, Pigmentary retinopathy, Long eyelashes, Sparse hair, Micropenis... ORPHA:3363
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Generalized dystonia, Ataxia, Optic disc pallor OMIM:619389
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia, Congenital hepatic fibrosis, Chro... ORPHA:3156
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Chediak-Higashi Syndrome
Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy... OMIM:214500
Congenital Toxoplasmosis
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Anemi... ORPHA:858
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Griscelli Syndrome Type 1
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iri... ORPHA:79476
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia OMIM:610951
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom... OMIM:153670
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time, Cryptorchidism ORPHA:638
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... ORPHA:381
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Dystonia, Dif... OMIM:264470
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Phenylketonuria
Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Elevated urinary phenylp... OMIM:261600
Anonychia With Flexural Pigmentation
Macular telangiectasia, Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyper... ORPHA:69125
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism ORPHA:2786
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate de... OMIM:210250
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Abnorma... OMIM:614307
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Spinocerebellar Ataxia 7
Tremor, Chorea, Optic atrophy, Dysmetria, Pigmentary retinopathy, Progressive cerebellar ataxia, ... OMIM:164500
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia OMIM:551500
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli... ORPHA:274
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide... ORPHA:79477
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Abnormal circu... ORPHA:2196
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Nephrotic synd... OMIM:269920
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair OMIM:113750
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:617613
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch... OMIM:619374
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... ORPHA:48818
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Somatic sensory dysfunction, Neurogenic bladder, Hyp... ORPHA:79473
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of ... ORPHA:290
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... OMIM:277580
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... ORPHA:2885
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock, Chorioretinal co... OMIM:601706
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Decreased serum thromboxane B2, Bruising suscepti... OMIM:614158
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation ORPHA:411515
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi... ORPHA:352731
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Opti... OMIM:222300
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... ORPHA:251282
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Generalized hypop... ORPHA:1816
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy... ORPHA:1433
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin... ORPHA:895
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Subcutaneous hemorrhage, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, ... OMIM:603585
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Leber Congenital Amaurosis 1
Hepatomegaly, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Hyper... OMIM:204000
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Subcutaneous hemorrhage, Retinal pigment epithelial mottl... ORPHA:448237
Eem Syndrome
Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino... ORPHA:1897
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... OMIM:277400
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hyperinsulinemia, Hypopigmentation of the skin, Cholestasis ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hyperinsulinemia, Hypopigmentation of the skin, Cholestasis ORPHA:71526
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Abnormality of chromosome stability, Ata... ORPHA:100
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Recurrent urinary tract infections, Ataxia, Urinary inco... OMIM:609033
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop... ORPHA:816
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Ataxia, Chorea, Athetosis, Dystonia ORPHA:382
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:480
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom... ORPHA:1390
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Jeune Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Abnormality of the liver, Nephronophthi... ORPHA:474
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Functional abnormality of the bladder, Hand tremor, Pigmentary reti... ORPHA:100996
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Microcytic anemia, Hematuria,... ORPHA:90308
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, H... ORPHA:791
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... ORPHA:436271
Cln3 Disease
Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating andr... ORPHA:228346
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Elevate... OMIM:613313
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Pa... ORPHA:79430
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiat... OMIM:618541
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... OMIM:220110
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... ORPHA:644
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... ORPHA:14
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal r... ORPHA:2715
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Hepatic failure, Hypopigmentation of the skin, Low posterior hairline ORPHA:261519
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Wolfram Syndrome 2
Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating ant... OMIM:604928
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Truncal ataxia, Pigmentary retinopathy, Dystonia OMIM:252011
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,... ORPHA:411527
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Reduced level of N... ORPHA:79329
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Dystonia ORPHA:96
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Abnormality of retinal pigmentation ORPHA:1117
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hyperpigmentation of the skin, Increased circulating ferritin conc... OMIM:604250
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Ataxia, Abnormality of neutrophils, White hair, Ocular albinism... ORPHA:2720
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Hypopigmented skin patches, Irregular hyperpigmentation, Ab... ORPHA:2584
Vici Syndrome
Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Ureteral at... ORPHA:1493
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Relapsing Fever
Abnormal bleeding, Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C... ORPHA:91547
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly, Abnormality of iron h... ORPHA:75563
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Joubert Syndrome 28
Pigmentary retinopathy, Ataxia, Optic disc pallor, Highly arched eyebrow OMIM:617121
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Micropenis, Elevated circulating creatine kinase concentration, Cryptorch... ORPHA:370968
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Acute Radiation Syndrome
Abnormal bleeding, Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation... ORPHA:454831
Laurence-Moon Syndrome
Pigmentary retinopathy, Micropenis, Ataxia, Chorioretinal atrophy OMIM:245800
Leigh Syndrome
Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Hypertrichosis OMIM:256000
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Polyuria, Mottled pigmentation of photoexposed areas, Pigmentary retinopath... OMIM:560000
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Hepatomegaly, Splenome... OMIM:263700
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... ORPHA:2884
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Trichohepatoenteric Syndrome 1
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increase... OMIM:222470
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Alopecia, Hepatomegaly, S... ORPHA:809
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Elevated circulating creatine kinase concentration, Hyperlipidemia,... OMIM:615980
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Retinal detachment, Poliosis, Abnormal eyelash mo... ORPHA:3437
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating crea... ORPHA:96180
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottli... OMIM:614105
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Decreased testicular size, Cryptorchidism ORPHA:3085
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus ORPHA:2801
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Menkes Disease
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Intracranial hemorrhag... OMIM:309400
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... ORPHA:247815
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Nephropathy, Prolonged bleed... OMIM:301000
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Impaired vibration sensation... ORPHA:88628
Joubert Syndrome 3
Retinal dystrophy, Ataxia, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigmentary reti... OMIM:608629
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Ramon Syndrome
Abnormality of retinal pigmentation, Generalized hirsutism ORPHA:3019
Bloom Syndrome
Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Hepati... OMIM:210900
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology 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
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of ... ORPHA:873
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormality of the upper ur... ORPHA:1807
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Ataxia, Splenomegaly, Nail dysplasia, R... ORPHA:773
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation ORPHA:411511
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Hypopigmentation of the skin, Decreased li... ORPHA:79321
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Angelman Syndrome
Ataxia, Blue irides, Limb tremor, Progressive gait ataxia, Fair hair, Hypopigmentation of the skin OMIM:105830
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Rod-con... OMIM:613464
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Supernumerary nipple ORPHA:1173
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches, Abnormal localization of kidney ORPHA:1825
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... ORPHA:699
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Limb dysmetria ORPHA:329336
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... OMIM:600462
Congenital Erythropoietic Porphyria
Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Red-brown... ORPHA:79277
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches, Hepatitis, Anemia, Agammaglobulinemia, Hypocalcemia, Neutro... ORPHA:47
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti... ORPHA:364055
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia,... OMIM:203800
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Paresthesia, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy ORPHA:44
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Retinal degeneration, ... ORPHA:79282
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Syndromic Diarrhea
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... ORPHA:84064
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypopigmentation, Bruising susceptibility ORPHA:352723
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia OMIM:600151
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Thick hair, Tremor, Dysmetria, Limb a... OMIM:617675
Prolidase Deficiency
Abnormality of retinal pigmentation, Recurrent cystitis, Hepatomegaly, Abnormal fingernail morpho... ORPHA:742
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Ataxia, Tremor, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio... ORPHA:64743
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Somatic sensory dysfunction, Jerky head movements, Focal dystonia ORPHA:240103
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Thick hair, Heparan sulfate excretion in urine,... ORPHA:505248
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Chronic active hepatitis, Decreased circulating parathyroid hormone level, Asplenia, Ne... OMIM:240300
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin... ORPHA:5
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... ORPHA:91500
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy, Elevated hepatic transaminase OMIM:268020
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Abnormal bleeding, Abnormal circulating enzyme concentra... ORPHA:95159
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic... OMIM:614866
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Micropenis, Elevated circulating creatine kinase concentration, Cryptorch... OMIM:613156
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Ataxia, Hypermelanotic macule, ... ORPHA:90321
Mulibrey Nanism
Pigmentary retinopathy, Nephroblastoma, Iris coloboma, Hepatomegaly OMIM:253250
Slc35A2-Cdg
Elevated hepatic transaminase, Increased circulating thyroglobulin level, Elevated circulating th... ORPHA:356961
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc... ORPHA:3322
Huntington Disease-Like 1
Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Jerky head movements ORPHA:157941
Kearns-Sayre Syndrome
Sideroblastic anemia, Ataxia, Renal tubular acidosis, Pigmentary retinopathy, Renal Fanconi syndrome OMIM:530000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... OMIM:214110
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Coarse hair, Muco... ORPHA:585
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cryptorchidism, Synophrys, Optic atrophy, Opisthotonus, Choreoathetosis, Micropenis, Hypo... OMIM:614969
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Huntington Disease-Like 3
Abnormal head movements, Urinary incontinence, Chorea, Progressive gait ataxia, Dystonia ORPHA:157946
Macs Syndrome
Prolonged bleeding time, Alopecia, Sparse eyebrow, Cryptorchidism, Urethral stenosis, Sparse hair... OMIM:613075
Noonan Syndrome
Abnormal hair quantity, Abnormal bleeding, Hepatomegaly, Cryptorchidism, Abnormality of the splee... ORPHA:648
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... OMIM:145350
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia OMIM:619059
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Brittle hair, Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethion... OMIM:236200
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, A... OMIM:300624
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... OMIM:618372
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Renal cell carcinoma ORPHA:122
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Generalized dyst... ORPHA:70472
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:609015
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Abnormal circulating enzyme conc... ORPHA:79264
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Chorea, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Athetosi... OMIM:617282
Obesity And Hypopigmentation
Red hair OMIM:620195
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen... OMIM:612095
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Papilledema, Hepatomegaly, Decreased iduronate sulfatase lev... OMIM:309900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Anterior synechiae of the anterior chamber,... ORPHA:3214
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Heimler Syndrome 1
Beau's lines, Retinal pigment epithelial mottling, Leukonychia, Macular dystrophy OMIM:234580
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Rod-cone dystrophy, Optic... ORPHA:157850
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho... ORPHA:193
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degener... OMIM:615986
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Pigmentary retinopathy, Ataxia ORPHA:3208
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Vici Syndrome
Decreased circulating IgG level, Hypopigmentation of hair, Elevated circulating creatine kinase c... OMIM:242840
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Stag... OMIM:615994
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Thick hair, Tremor, Dysmetria, Pigmentary retinop... ORPHA:502423
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Chr... OMIM:227650
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Ataxia, Proteinuria, Optic atrophy, Hypoplasia ... OMIM:251300
Pseudohypoparathyroidism Type 1A
Calcinosis, Reduced circulating prolactin concentration, Elevated circulating calcitonin concentr... ORPHA:79443
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia, Iris coloboma OMIM:300337
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Ataxia, Leukocoria, Nail pits, Fine hair, E... OMIM:268130
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Ataxia ORPHA:578
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Ataxia, Abnormality of Krebs cycle metabolism, Chorea, L... ORPHA:255210
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:612572
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re... OMIM:193220
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... ORPHA:79396
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Elevated hepatic transaminase, Nodular ... ORPHA:404454
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Optic atrophy, Abnormal... ORPHA:2510
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Cockayne Syndrome
Dry hair, Urinary incontinence, Progressive gait ataxia, Retinal arteriolar constriction, Retinal... ORPHA:191
Angelman Syndrome
Optic disc pallor, Ataxia, Tremor, Optic atrophy, Fair hair, Hypopigmentation of the skin, Iris h... ORPHA:72
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Paresthesia, Hypopigmented skin patches ORPHA:2875
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Onycholysis ORPHA:525
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnorma... ORPHA:79456
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hyperphosphaturia, Horseshoe kidney, Hypophosphatemic rickets, Hypopigmentation of the ... OMIM:163200
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Acute hepatitis, Diffuse hepatic stea... ORPHA:2137
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo... ORPHA:1775
Werner Syndrome
Abnormality of retinal pigmentation, Sparse scalp hair, Renal neoplasm, Abnormal hair whorl, Prem... ORPHA:902
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged prothro... ORPHA:49566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:613154
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... ORPHA:99901
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... OMIM:216550
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Ataxia, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Decreased circulating IgG l... ORPHA:125
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Elevated hepatic transami... OMIM:603553
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... ORPHA:300298
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney... OMIM:268315
Ocular Motor Apraxia
Jerky head movements, Nephronophthisis OMIM:257550
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Proteinuria, Tremor, Rod-cone dystrophy, Dys... OMIM:212065
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxi... ORPHA:636
Crouzon Syndrome
Iris coloboma, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Hyperlipidemia, Joint h... ORPHA:35909
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Atrichia, Na... ORPHA:1867
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Urinary incontinence, Acanthocytosis, Tremor, Optic atrophy, Choreoathetosis, Pigmentary ... OMIM:234200
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Abnormal bleeding, Recurrent urinary tract infections, Glomerulonephritis... ORPHA:2968
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Congenital Fibrinogen Deficiency
Abnormal bleeding, Abnormality of the subungual region, Internal hemorrhage, Splenic rupture, Opi... ORPHA:335
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Rothmund-Thomson Syndrome
Calcinosis, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperp... ORPHA:2909
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Horseshoe kidney, Low posterior hairline... OMIM:300860
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Abnormal blood inorganic cation concentrat... ORPHA:309854
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Hartnup Disease
Abnormal urinary color, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Neutral ... ORPHA:2116
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Retinal pi... OMIM:251260
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Prolonged... OMIM:616271
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Sandifer Syndrome
Hematemesis, Abnormal head movements, Torticollis, Anemia ORPHA:71272
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormality of chromosome stability, Hepatomegaly, Sparse ey... ORPHA:175
Prader-Willi Syndrome
Hypopigmentation of hair, Impaired pain sensation, Cryptorchidism, Hyperinsulinemia, Frontal upsw... OMIM:176270
Melas
Ataxia, Proteinuria, Nephropathy, Optic atrophy, Pigmentary retinopathy, Focal segmental glomerul... ORPHA:550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev... ORPHA:98754
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Ogden Syndrome
Abnormal head movements, Torticollis, Cryptorchidism, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin, Defective DNA repair after ultraviolet radiation damage OMIM:278720
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev... ORPHA:98793
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair OMIM:614613
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev... ORPHA:177904
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... OMIM:276700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev... ORPHA:177901
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... ORPHA:411629
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Hypospadias, Brushfield spots, ... OMIM:214100
Rothmund-Thomson Syndrome Type 1
Calcinosis, Aplastic anemia, Alopecia totalis, Cryptorchidism, Anemia, Sparse or absent eyelashes... ORPHA:221008
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Chorioretinal hypopigme... ORPHA:398079
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Retinal dystrophy, Th... OMIM:617052
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... OMIM:613266
Acrofrontofacionasal Dysostosis
Hypospadias, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the e... ORPHA:1784
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hypospadias, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot, Decreased... ORPHA:457485
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ureteral stenosis, Ataxia, Cryptorchidism, Ocular albinism, Athetosis, ... ORPHA:2719
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Blue irides, Mega... OMIM:604292
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal... OMIM:300578
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Cockayne Syndrome B
Hepatomegaly, Dry hair, Renal insufficiency, Ataxia, Proteinuria, Tremor, Splenomegaly, Cryptorch... OMIM:133540
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Sparse scal... ORPHA:394
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Hypoesthesia, Impair... OMIM:607459
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Sp... ORPHA:30391
Mosaic Trisomy 8
Cryptorchidism, Hypopigmented skin patches, Hydronephrosis, Vesicoureteral reflux, Hypopigmentati... ORPHA:96061
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Highly arched eyebrow, Trichiasis, Renal hypoplasia, Renal cyst, Pigmentary... OMIM:618460
Cockayne Syndrome A
Hepatomegaly, Dry hair, Retinal atrophy, Ataxia, Renal insufficiency, Proteinuria, Tremor, Retina... OMIM:216400
Alagille Syndrome 1
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular... OMIM:118450
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Ruvalcaba Syndrome
Cryptorchidism, Hypopigmented skin patches, Abnormal localization of kidney, Hematuria, Generaliz... ORPHA:3121
Degcags Syndrome
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Abnormality of skin pigmentation, P... OMIM:619488
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Pigmentary retinopathy, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepatic fai... ORPHA:746
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Ataxia, Pigmentary retinopathy OMIM:610651
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Rothmund-Thomson Syndrome Type 2
Calcinosis, Aplastic anemia, Alopecia totalis, Cryptorchidism, Anemia, Sparse or absent eyelashes... ORPHA:221016
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin ORPHA:35125
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Usher Syndrome
Abnormality of retinal pigmentation, Vestibular areflexia, Ataxia ORPHA:886
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalc... ORPHA:534
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Sarcoidosis
Hemolytic anemia, Alopecia, Renal insufficiency, Hepatomegaly, Eosinophilia, Hypercalcemia, Porta... ORPHA:797
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Squalene Synthase Deficiency
Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Bilateral cryp... OMIM:618156
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Incontinentia Pigmenti
Retinal detachment, Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Eosinophili... ORPHA:464
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Ataxia, Splenomegaly, Hypopi... ORPHA:163746
Intellectual Disability And Myopathy Syndrome
Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, White eyebrow, Ataxia, Portal hypertension, Cryptorchidism, Hypopig... OMIM:609136
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Abnormality of nail color ORPHA:1824
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:617049
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Chorior... ORPHA:2526
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Prolonged prothro... OMIM:616483
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophil... ORPHA:183
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorr... ORPHA:99147
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Ataxia, Iron deficiency anemia, Prolo... OMIM:212750
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Abnormal circulating calciu... ORPHA:3453
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Ataxia, Retinal dystrophy, Abnormality of the kidney, Hy... OMIM:209900
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Chorioretinal hypopigme... ORPHA:398069
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... ORPHA:233
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ureterocele, Vesicoureteral reflux, Sparse hair, Micropenis, Sparse eyebrow, Cryptorchidism, Blue... OMIM:129900
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hepatic steatosis, Reti... ORPHA:79474
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ... OMIM:610842
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Prolonged p... ORPHA:367
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Reduced circulating prolactin concentrati... ORPHA:2235
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Abnormality of the kidney, Stellate iris, Hypopigmentation of the skin,... ORPHA:177907
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... ORPHA:470
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Frontal upsweep of hair OMIM:612582
Fanconi Anemia
Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver, Hypospadias, Cryptorchidi... ORPHA:84
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Abnormality of retinal pigmentation, Somatic sensory dysfunction, U... ORPHA:466768
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Prolonged prothrom... OMIM:618329
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Mucopolysaccharidosis Type 3
Hepatomegaly, Ataxia, Thick hair, Retinal degeneration, Heparan sulfate excretion in urine, Splen... ORPHA:581
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Synophrys, Abnormality of skin pigmentation, Chorioretinal coloboma, Micropenis, Hepatic steatosi... OMIM:619475
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Cryptorchidism, Hypopigmented skin patches, Iris coloboma ORPHA:1647
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Retinal pigment epithelial mottling, Choriore... OMIM:618733
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho... ORPHA:293173
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, Jaundice, Lipid acc... ORPHA:20
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin, Leukemia OMIM:276300
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating uraci... OMIM:311250
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat... OMIM:614921
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Prader-Willi Syndrome
Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev... ORPHA:739
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Low alkaline phosphatase, Nephro... ORPHA:369837
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Increased serum beta-hexosaminid... OMIM:252500
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Coffin-Lowry Syndrome
Hyperconvex fingernails, Abnormality of retinal pigmentation, Optic atrophy, Hypoplastic fingernail ORPHA:192
Retinitis Pigmentosa 74
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Abnormal renal morphology OMIM:616562
Eec Syndrome
Slow-growing hair, Hypospadias, Renal hypoplasia/aplasia, Sparse eyebrow, Nail pits, Fine hair, U... ORPHA:1896
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Synophrys, Hypoplasia of penis, Hypopigmented skin patches, Aplastic/hypoplastic toenail ORPHA:1295
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypopigmented skin patc... ORPHA:2067
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin, Optic neuropathy OMIM:620237
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasi... OMIM:619321
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Optic atrophy, Hypopigmented skin patches,... ORPHA:206436
Alg12-Cdg
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Elevated hepatic ... ORPHA:79324
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity OMIM:613988
Tetragametic Chimerism
Blood group antigen abnormality, Cryptorchidism, Hypopigmented skin patches, Perineal hypospadias... ORPHA:199310
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hypopigmented skin patches ORPHA:2115
Aicardi Syndrome
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal ... ORPHA:2556
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism,... ORPHA:678
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, ... OMIM:607944
Trisomy 18
Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Cryptorchidism, Hydr... ORPHA:3380
Short Stature With Microcephaly And Distinctive Facies
Sparse scalp hair, Sparse eyebrow, Anisopoikilocytosis, Spotty hypopigmentation, Spotty hyperpigm... OMIM:615789
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Multiple lentigines, Red hair, Freckling, Prof... OMIM:160980
Cog8-Cdg
Elevated hepatic transaminase, Spontaneous hematomas, Prolonged prothrombin time, Ataxia ORPHA:95428
Noonan Syndrome 9
Curly hair, Hydroureter, Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time OMIM:616559
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Elevated hepatic transaminase, Epistaxis, Cerebral hemorrhage, Prolonged proth... OMIM:277450
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Absent fingernail, Cho... OMIM:305600
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Recurrent urinary tract infections, Renal duplication, Hypospadias, Testicular neoplasm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Recurrent urinary tract infections, Renal duplication, Hypospadias, Testicular neoplasm... ORPHA:363958
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Hyperpigmentation of the skin, Dysuria,... ORPHA:95455
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Synophrys, Hepatosplenomegaly, Cholecystitis, Cholelithiasis, Hypopigmentation of t... OMIM:301066
Yellow Fever
Abnormal bleeding, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinas... ORPHA:99829
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Anemia, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of... ORPHA:2637
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hypopigmented skin patches, Hepatomegaly ORPHA:53715
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... ORPHA:171
Kasabach-Merritt Syndrome
Reticulocytosis, Purpura, Petechiae, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, He... ORPHA:2330
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Chol... ORPHA:3166
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Localized Scleroderma
Abnormal skin adnexa morphology, Abnormality of the kidney, Hypopigmented skin patches, Patchy al... ORPHA:90289
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Papilledema, Abnormal circulating enzyme concentration or ac... ORPHA:217085
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Thymus... ORPHA:744
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Papilledema, Abnormal circulating enzyme concentration or ac... ORPHA:217093
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Micropenis, Cryptorchidism OMIM:614230
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Systemic Sclerosis
Alopecia, Renal insufficiency, Proteinuria, Nail bed telangiectasia, Elevated circulating creatin... ORPHA:90291
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... ORPHA:99826
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmo... OMIM:618280
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Elevated hepatic transaminase... ORPHA:90062
Monosomy 13Q34
Epistaxis, Hypercalcemia, Fetal pyelectasis, Hematochezia, Prolonged prothrombin time, Horizontal... ORPHA:96168
Xeroderma Pigmentosum
Alopecia, Ataxia, Hypermelanotic macule, Cryptorchidism, Optic atrophy, Hypopigmented skin patche... ORPHA:910
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Hypospadias, Cryptorchidism, Abnormal hair whorl, Patchy hypo- and hyperpi... ORPHA:163956
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Papilledema, Hepatomegaly, Abnormal foveal morphology, Splen... ORPHA:580
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented skin patches, Nail dystr... ORPHA:2907
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Polyuria, Dysmetria, Gait ataxia, Distal sensory impairm... OMIM:606721
Mosaic Trisomy 20
Abnormality of the kidney, Cryptorchidism, Depigmentation/hyperpigmentation of skin, Horseshoe ki... ORPHA:1724
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Tremor, Synophrys, Wide penis, Vesicoureteral reflux, Sparse hair, Dilatat... ORPHA:3455
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Pigmentary retinopathy, Chordee, Micropenis, Iris coloboma OMIM:309801
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Abnormality of thrombocytes, Impaired T cell function, ... ORPHA:567
Childhood Absence Epilepsy
Jerky head movements, Urinary incontinence ORPHA:64280
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Thrombocytopenia OMIM:617941
Chromomycosis
Hypopigmented skin patches ORPHA:182
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst OMIM:272460
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Classical Ehlers-Danlos Syndrome
Bladder diverticulum, Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Pitt-Hopkins Syndrome
Ataxia, Supernumerary nipple, Cryptorchidism, Hypopigmented skin patches, Gait ataxia, Micropenis ORPHA:2896
Brittle Cornea Syndrome
Retinal detachment, Bruising susceptibility, Abnormality of hair pigmentation ORPHA:90354
Cowden Syndrome
Abnormal penis morphology, Ataxia, Abnormality of the kidney, Hypopigmented skin patches, Melanoc... ORPHA:201
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Chorea, Intracranial hemorrhage, Spontaneo... ORPHA:565
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor, Hypertrichosis OMIM:266270
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... OMIM:210720
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Prolonged prothr... OMIM:619055
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Synophrys, Patchy hypo- and hyperpig... ORPHA:3063
Kindler Syndrome
Ridged nail, Phimosis, Urethral stenosis, Spotty hypopigmentation, Spotty hyperpigmentation OMIM:173650
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Cancer-Associated Retinopathy
Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove... ORPHA:71505
Mend Syndrome
Cryptorchidism, Crossed fused renal ectopia, Macular hypoplasia, Spotty hypopigmentation OMIM:300960
Mend Syndrome
Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty hypopigmentation ORPHA:401973
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Hypospadias, Supernumerary nipple, Sparse eyebrow,... OMIM:601803
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818

Histopathology

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

There is no histopathology data for Bloc1s4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bloc1s4.

No publications found that use IMPC mice or data for Bloc1s4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Bloc1s4em1(IMPC)Mbp Deletion Mice, Tissue
Bloc1s4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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