banner
Genes Phenotypes Help, News, Blog

Gene: Dtnbp1 MGI:2137586

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating glucose level Dtnbp1tm1b(EUCOMM)Hmgu HOM   Early adult 5.32×10-05
increased fasting circulating glucose level Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 6.50×10-06
increased lymphocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.31×10-05
increased neutrophil cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 3.77×10-12
abnormal coat/hair pigmentation Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 5.14×10-19
abnormal uterus morphology Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased lymphocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.28×10-07
abnormal iris pigmentation Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 1.91×10-18
decreased grip strength Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 7.40×10-05
increased leukocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 5.23×10-08
abnormal retina morphology Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 1.42×10-12
decreased exploration in new environment Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 9.02×10-05
increased circulating phosphate level Dtnbp1tm1b(EUCOMM)Hmgu HOM   Early adult 3.24×10-05

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.

Combined SHIRPA and Dysmorphology

Images

19 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

15 Images

View images
X-ray

XRay Images Skull Lateral Orientation

15 Images

View images
X-ray

XRay Images Hind Leg and Hip

15 Images

View images
Histopathology

Images

4 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Eye Morphology

Images Ophthalmoscopy

10 Images

View images
Eye Morphology

Images Slit Lamp

4 Images

View images

Human diseases caused by Dtnbp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dtnbp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hermansky-Pudlak Syndrome 7
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... OMIM:614076

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Post-partum he... OMIM:619130
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Prolo... OMIM:619267
Glanzmann Thrombasthenia 1
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Gingi... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Glanzmann Thrombasthenia
Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... ORPHA:849
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Platelet Signal Processing Defect
Epistaxis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggre... OMIM:173590
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Abnormality of the kidney, Bruising susceptibility, Impaired epinephrine-i... OMIM:155100
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, M... OMIM:124900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal bleeding, Spl... ORPHA:231393
Athrombia, Essential
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time, Abnormal blee... OMIM:209050
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Abnormal bleeding, Impaired platelet aggregation,... OMIM:187800
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Bruising susceptibility, Albinism, Abnormal bleeding, Hypopigmentation of the ... OMIM:614072
Hermansky-Pudlak Syndrome 7
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... OMIM:614076
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Epistaxis, Bruising susceptibility, Abnormal pl... OMIM:614201
Immunodeficiency 20
Recurrent respiratory infections, BCGitis, Recurrent oral herpes, Reduced natural killer cell act... OMIM:615707
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the fundus, Abnormal platelet aggregation, Hypopigmentation of th... OMIM:614171
Bernard-Soulier Syndrome
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Prolo... OMIM:231200
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Recurrent tonsillitis, Melanin pigment aggregation in... OMIM:214450
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding after dental extraction, Bruising susceptibility, Impaired epinephrine-induced... OMIM:615888
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Epistaxis, Bruising susceptibility, Albinism, Impaired ADP-induced plate... OMIM:614074
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding OMIM:608404
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Reduced platelet dense granules, Gingival bleeding, Epistaxis, Impaired ... OMIM:619172
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage OMIM:618462
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 21
Menorrhagia, Alopecia, Impaired platelet aggregation, Thrombocytopenia, Impaired ADP-induced plat... OMIM:617443
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Albinism, Abnormal platelet granules, Ecchymosis, Hypopigmentation of th... OMIM:614075
Bleeding Disorder, Platelet-Type, 8
Bruising susceptibility, Persistent bleeding after trauma, Ecchymosis, Prolonged bleeding after s... OMIM:609821
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding OMIM:173420
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections OMIM:614493
Nephronophthisis
Renal insufficiency, Anemia, Abnormality of retinal pigmentation ORPHA:655
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent viral infections, Rec... OMIM:308220
Von Willebrand Disease, Type 3
Bruising susceptibility, Persistent bleeding after trauma, Menorrhagia, Joint hemorrhage, Prolong... OMIM:277480
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Myh9-Related Disease
Proteinuria, Bruising susceptibility, Congenital thrombocytopenia, Renal insufficiency, Nephropat... ORPHA:182050
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Bleeding Disorder, Platelet-Type, 17
Macrothrombocytopenia, Epistaxis, Bruising susceptibility, Impaired epinephrine-induced platelet ... OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Bruising susceptibility, Abnormal alpha granule content, Impaired plate... OMIM:601399
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Bruising susceptibility, Hemolytic anemia, Reduced platelet alpha granules, Incr... OMIM:314050
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Bruising susceptibility, Menorrhagia, ... OMIM:139090
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis, Bruising susceptibility OMIM:188000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Prolonged bleeding after den... OMIM:153670
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Recurrent bacterial meningitis, Decreased circulating IgA level,... OMIM:300400
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Bruising susceptibility,... OMIM:614009
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia OMIM:606574
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Tietz Albinism-Deafness Syndrome
Blue irides, Hypopigmentation of the fundus, Generalized hypopigmentation, White eyelashes, White... OMIM:103500
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Slc35A1-Cdg
Abnormal platelet granules, Giant platelets, Thrombocytopenia, Abnormal bleeding, Pulmonary hemor... ORPHA:238459
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Recurrent... OMIM:607624
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation o... OMIM:126070
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... OMIM:615008
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Thr... OMIM:601709
Hermansky-Pudlak Syndrome 8
Blue irides, Hypoplasia of the fovea, Gingival bleeding, Epistaxis, Bruising susceptibility, Gene... OMIM:614077
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding OMIM:188025
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... OMIM:619191
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Ectodermal Dysplasia And Immunodeficiency 1
Aplasia of the eccrine sweat glands, Increased circulating IgA level, Severe cytomegalovirus infe... OMIM:300291
Oliver-Mcfarlane Syndrome
Cryptorchidism, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Alopecia, Hypoplas... OMIM:275400
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections ORPHA:90023
Bernard-Soulier Syndrome
Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Gingival bleeding, Impaired risto... ORPHA:274
Chorea, Benign Hereditary
Anxiety, Dementia, Gait disturbance OMIM:118700
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... OMIM:619165
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Abnormal reticulocyte morphology, Macr... OMIM:300835
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Congenital stationary night blindness, Macular atrophy, Attenuation of re... OMIM:613830
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia, Melanocytic nevus ORPHA:3319
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia, Menorrhagia, Spontaneous hematomas, Thrombocytopenia, Abnormal ble... OMIM:616176
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Joint hemorrhage, Impaired platelet aggregation, Intestinal bleeding, Me... OMIM:605735
Von Willebrand Disease, Type 1
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... OMIM:193400
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:612712
Choroideremia
Granular macular appearance, Hypopigmentation of the fundus, Retinal pigment epithelial mottling,... OMIM:303100
3-Methylglutaconic Aciduria Type 4
Cataract, Thrombocytopenia, Iris hypopigmentation, Hypoglycemia ORPHA:67048
Homocarnosinosis
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hermansky-Pudlak Syndrome 1
Freckling, Gingival bleeding, Hematochezia, Bruising susceptibility, Renal insufficiency, Albinis... OMIM:203300
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria ORPHA:2134
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Phenylketonuria
Blue irides, Cataract, Self-mutilation, Hyperphenylalaninemia, Generalized hypopigmentation, Mate... OMIM:261600
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Freckles in sun-exposed are... OMIM:203200
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Aberrant melanosome maturation, Generalized hypopigm... OMIM:608233
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Hematuria, Abnormal bleeding OMIM:314000
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Oculocutaneous Albinism Type 1
Depigmented fundus, Hypoplasia of the fovea, Blue irides, Iris hypopigmentation, Generalized hypo... ORPHA:352731
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism, R... ORPHA:79476
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Candida esophagitis, Reduced na... OMIM:619281
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Gray Platelet Syndrome
Bruising susceptibility, Thrombocytopenia, Abnormal bleeding, Epistaxis, Splenomegaly, Abnormalit... ORPHA:721
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Huntington Disease-Like 1
Unsteady gait, Restlessness, Anxiety, Dementia, Aggressive behavior, Depression, Dysmetria OMIM:603218
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia OMIM:146200
Malaria
Retinopathy, Thrombocytopenia, Acute kidney injury, Anemia ORPHA:673
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bruising susceptibility, Bone marrow hypocellularity, ... ORPHA:3226
Giant platelet syndrome with thrombocytopenia
Prolonged bleeding after dental extraction, Bruising susceptibility, Giant platelets, Gastrointes... OMIM:137560
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoac... OMIM:603585
Storage Pool Platelet Disease
Acute leukemia, Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding OMIM:185050
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Factor V Deficiency
Prolonged prothrombin time, Bruising susceptibility, Menorrhagia, Abnormal bleeding, Epistaxis, P... OMIM:227400
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Transcobalamin Deficiency
Decreased circulating total IgM, Acute kidney injury, Decreased circulating IgA level, Lymphopeni... ORPHA:859
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... OMIM:193510
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Multiple cafe-au-lait spots, Thrombocytopenia, Neutropenia OMIM:614082
Griscelli Syndrome
Abnormal circulating lipid concentration, Iris hypopigmentation, Leukopenia, Abnormal eyelash mor... ORPHA:381
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormal calcium-phosphate regulating hormone level, Nephropathy, Abnormality of retinal pigmenta... ORPHA:2196
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... ORPHA:98879
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Chronic hemolytic anemia, Giant platelets, Im... OMIM:210250
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Absent isohemagglutinin level, Increased circulating antibody... OMIM:615559
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy, Hemolytic anemia, Neutro... OMIM:266130
Forsythe-Wakeling Syndrome
Thrombocytopenia, Nephrotic syndrome OMIM:613606
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hair quantity, Polycystic ovaries, Cognitive impairment, Hyperphosphatemia, Alopecia, Mu... ORPHA:457059
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:613554
Autoimmune Hypoparathyroidism
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Conjunct... ORPHA:36913
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Essential Thrombocythemia
Acute leukemia, Abnormal platelet morphology, Prolonged bleeding time, Splenomegaly, Abnormality ... ORPHA:3318
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Optic nerve misrouting, Generalized hypopigmentati... ORPHA:79433
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... ORPHA:79432
Bothnia Retinal Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Macular degeneration, Retinal degene... ORPHA:85128
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Microscopic hematuria, Prolonged bleeding after dental extraction, An... ORPHA:325
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time ORPHA:638
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytop... ORPHA:158029
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Anxiety, Motor deterioration... ORPHA:412066
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding ORPHA:1059
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentatio... ORPHA:177910
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Meningitis, Reduced natural killer cell activity, Increased cir... OMIM:308240
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... OMIM:613101
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Abnormal bleeding ORPHA:517
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Pseudohypoparathyroidism, Type Ic
Cataract, Hypogonadism, Cognitive impairment, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany OMIM:612462
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Wolfram Syndrome 2
Neurogenic bladder, Optic neuropathy, Decreased circulating antibody level, Optic atrophy, Abnorm... OMIM:604928
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Enlarged ... OMIM:615285
Linear Verrucous Nevus Syndrome
Cataract, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the fovea, Mental deterioration,... ORPHA:2611
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Chediak-Higashi Syndrome
Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel... OMIM:214500
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Joint hemorrhage, Ecchymo... OMIM:613679
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocytopenia, ... ORPHA:231401
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Absent axillary hair, Sea-blue histiocytosis OMIM:269600
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Abnormality of retinal ... ORPHA:3156
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Oculocutaneous Albinism
Hypoplasia of the fovea, Iris hypopigmentation, Hypopigmentation of the fundus, Iris coloboma, Ge... ORPHA:55
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Cognitive impairment, Synophrys, Abnormality of retinal pig... ORPHA:1390
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Tonne-Kalscheuer Syndrome
Blue irides, Decreased testicular size, Cryptorchidism, Micropenis, Fine hair, Anxiety, Concave n... OMIM:300978
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Pseudohypoparathyroidism, Type Ia
Cataract, Hypogonadism, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Usher Syndrome Type 3
Cataract, Astigmatism, Anxiety, Iris hypopigmentation ORPHA:231183
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Optic disc pallor, Retinal thinning OMIM:618970
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Gingival bleeding, Hemophagocytosis, Large clumps of pigment irregularly ... ORPHA:167
Ataxia-Telangiectasia
Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Cognitive impairment, Lymphopen... ORPHA:100
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Acquired Partial Lipodystrophy
Generalized hirsutism, Lymphocytosis, Insulin resistance ORPHA:79087
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Cryptorchidism, Diabetes mellitus, Red hair, Fair hair, Hypospadias OMIM:614613
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Thrombotic Thrombocytopenic Purpura
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... ORPHA:54057
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Optic ... OMIM:598500
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Choroidal Atrophy-Alopecia Syndrome
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abn... ORPHA:1433
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... ORPHA:448237
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Autosomal Dominant Hypocalcemia
Emotional lability, Irregular hyperpigmentation, Anxiety, Abnormality of the nail, Hyperphosphate... ORPHA:428
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Happy demeanor ORPHA:411515
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Riboflavin Transporter Deficiency
Iris hypopigmentation, Hypogonadism, Optic disc pallor, Abnormality of macular pigmentation, Aggr... ORPHA:97229
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... OMIM:251270
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Kenny-Caffey Syndrome, Type 2
Anemia, Papilledema, Retinal calcification, Hyperphosphatemia, Transient hypophosphatemia, Hypoca... OMIM:127000
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Wiskott-Aldrich Syndrome
Gingival bleeding, Acute leukemia, Glomerulopathy, Hemolytic anemia, Intracranial hemorrhage, Epi... ORPHA:906
Wt Limb-Blood Syndrome
Irregular hyperpigmentation, Leukemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia OMIM:194350
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Freckling, Abnormal macular morphology, Iris hypopigmentation, Astigmati... ORPHA:54
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:617871
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Abnormality of retinal pigmentation ORPHA:858
Usher Syndrome Type 1
Cataract, Anxiety, Iris hypopigmentation ORPHA:231169
Thrombocytopenia 5
Epistaxis, Bruising susceptibility, Anemia, Increased mean corpuscular volume, Thrombocytopenia, ... OMIM:616216
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Niemann-Pick Disease, Type B
Abnormal macular morphology, Anemia, Bone-marrow foam cells, Sea-blue histiocytosis, Thrombocytop... OMIM:607616
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Hematuria, Internal hemorrhage, Prolonged bleedin... ORPHA:90308
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disea... OMIM:612925
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Eem Syndrome
Sparse body hair, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystrophy, Retinop... ORPHA:1897
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Intracrani... ORPHA:324636
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Waardenburg-Shah Syndrome
Abnormal macular morphology, Abnormal eyebrow morphology, Synophrys, Premature graying of hair, A... ORPHA:897
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Anxiety, Hyperphosphatemia, Elevated circulating creatine kinase con... ORPHA:94093
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Vogt-Koyanagi-Harada Disease
Abnormal eyelash morphology, Vitiligo, Hypopigmented skin patches, Abnormal eyebrow morphology, C... ORPHA:3437
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Systemic Lupus Erythematosus 17
Optic neuritis, Leukopenia, Autoimmune thrombocytopenia, Alopecia, Lymphopenia, Thrombocytopenia OMIM:301080
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Premature graying of hair, Hypopigmentation of the skin, Hypopi... ORPHA:33445
Immune Thrombocytopenia
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Thrombocytopenia, Gastr... ORPHA:3002
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Iris hypopigmentation, Generalized hypopigmentation, Hypochromic anemia, Abnormality of... ORPHA:2720
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... ORPHA:96369
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Paget Disease Of Bone 5, Juvenile-Onset
Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Retinal degeneration, Angioid streaks of the... OMIM:239000
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Synophrys, Premature graying of hair, Partial albinism, ... OMIM:148820
Polycythemia Vera
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Gastrointestinal ... OMIM:263300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612926
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypertrichosis, Postprandial hyperglycemia, Clitoral hypertrophy, Hyperinsu... OMIM:262190
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Waardenburg Syndrome, Type 2E
Blue irides, Iris hypopigmentation, Hypopigmentation of the fundus, Hypopigmented skin patches, P... OMIM:611584
Hemochromatosis, Type 3
Elevated transferrin saturation, Anemia, Lymphopenia, Hyperpigmentation of the skin, Increased se... OMIM:604250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612924
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Preeclampsia
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Thrombocytop... ORPHA:275555
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Pigmentary retinopathy, Macular degeneration, Cystoid m... ORPHA:411527
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Pseudohypoparathyroidism Type 1B
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Conjunct... ORPHA:94089
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Renal insufficiency, Renal tubular dysfunction, Thrombocytopenia, Optic atrophy, Neutropenia ORPHA:289916
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... ORPHA:79431
Sanjad-Sakati Syndrome
Cryptorchidism, Astigmatism, Hyperphosphatemia, Hypoplasia of penis, Corneal opacity, Hypocalcemia ORPHA:2323
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Congenital Rubella Syndrome
Anemia, Abnormality of retinal pigmentation, Thrombocytopenia, Aplasia/Hypoplasia of the iris, Sp... ORPHA:290
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Self-mutilation, Aggressive behavior OMIM:615516
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Anemia, Papilledema, Retinal calcification, Hypocalcemic seizures, Hyp... ORPHA:93325
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Progressive language deterioratio... ORPHA:168782
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Wolfram Syndrome 1
Hydronephrosis, Megaloblastic anemia, Neurogenic bladder, Hydroureter, Pigmentary retinopathy, Si... OMIM:222300
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Decreased testicular size, Self-mutilation, Micropenis, External genital hypoplasia,... ORPHA:3041
Idiopathic Aplastic Anemia
Gingival bleeding, Anemia, Bone marrow hypocellularity, Neutropenia, Reticulocytopenia, Ecchymosi... ORPHA:88
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina OMIM:172870
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Hyperpigmentation of the skin, Thrombocytopenia,... OMIM:619151
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Wiskott-Aldrich Syndrome
Gingival bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific... OMIM:301000
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... ORPHA:999
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Cryptorchidism, Hypogonadism, Hyperphosphatemia, Optic atrophy, Melanocytic nevus OMIM:101800
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Relapsing Fever
Prolonged prothrombin time, Acute kidney injury, Leukocytosis, Leukopenia, Anemia, Thrombocytopen... ORPHA:91547
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Cryptorchidism, Hypogonadism, Diabetes mellitus, Hyperphosphatemia, Red hair, Fair h... ORPHA:280651
Fetal And Neonatal Alloimmune Thrombocytopenia
Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intracranial hemorrhage, Ecchymosi... ORPHA:853
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Bruising susceptibility, Persistent bleeding after trauma, Congenital thrombocytopenia, Anemia of... OMIM:300367
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Retinal degeneration, Sideroblastic anemia, Thrombocytopenia, Thiamine-r... OMIM:249270
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
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, Attenuation of retinal blood vessels,... OMIM:601718
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Thrombocytopenia, Renal hypoplasia/aplasia, Anemia ORPHA:2123
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal col... OMIM:601706
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Waardenburg Syndrome, Type 1
Blue irides, Hypopigmentation of the fundus, Synophrys, Premature graying of hair, Hypoplastic ir... OMIM:193500
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Hyperphosphatemia, Angioid streaks of the fundus, Calcin... OMIM:211900
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204100
Tufted Angioma
Anemia, Purpura, Thrombocytopenia, Petechiae, Hypertrichosis ORPHA:1063
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Deafness-Hypogonadism Syndrome
Cognitive impairment, Hypergonadotropic hypogonadism, Congenital stationary night blindness, Abno... ORPHA:90646
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Cerebellar hemorrhage, H... OMIM:243500
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Chronic neutropenia, Curly hair, Short eyelashes, Concave ... OMIM:258360
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Albinism, Oculocutaneous, Type Ia
Blue irides, Hypoplasia of the fovea, Astigmatism, Albinism, White hair, Hypopigmentation of hair... OMIM:203100
Dyskeratosis Congenita, Autosomal Dominant 3
Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Fine hair, Bone marro... OMIM:613990
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hoyeraal-Hreidarsson Syndrome
Anemia, Premature graying of hair, Bone marrow hypocellularity, Thrombocytopenia, Nail dystrophy,... ORPHA:3322
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Spondylo-Ocular Syndrome
Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Retinal detachment, Low posterior h... ORPHA:85194
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Optic disc pallor, Thrombocytopenia, Petechiae, Optic atrophy, Splenomegaly OMIM:611490
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Nephropathy, Alopecia, Purpura, Gastrointestinal hemorrhage, Prolon... ORPHA:809
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Hyperthreoninuria, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204000
Pseudohypoparathyroidism Type 1C
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypergonadotropic hypo... ORPHA:79444
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Abnormality of retinal pigmentation ORPHA:1117
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Noonan Syndrome 13
Blue irides, Head-banging, Multiple lentigines, Cryptorchidism, Anxiety, Low posterior hairline, ... OMIM:619087
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cataract, Brushfield spots, Cryptorchidism, Clitoral hypertrophy, Pigme... OMIM:214110
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Dyskeratosis Congenita, Autosomal Dominant 2
Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Premature graying of ... OMIM:613989
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:616108
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Nail ... OMIM:613987
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Low posterior hairline, Hirsutism, Generalized hirsutism ORPHA:1895
Piebaldism
Piebaldism, Hypopigmented skin patches, Synophrys, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Hemolytic-uremic syndrome OMIM:614727
Mgat2-Cdg
Long eyelashes, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, ... ORPHA:79329
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Reduced natural ki... OMIM:614172
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... OMIM:618697
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabet... OMIM:618858
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Synophrys, Hy... ORPHA:3440
Classic Phenylketonuria
Motor deterioration, Memory impairment, Self-injurious behavior, Mental deterioration, Hypopigmen... ORPHA:79254
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia OMIM:612783
Fanconi Anemia, Complementation Group T
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Acute myeloid leukemia OMIM:616435
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Rhabdoid Tumor
Renal neoplasm, Anemia, Thrombocytopenia, Hematuria, Internal hemorrhage ORPHA:69077
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Multiple cafe-au-lai... ORPHA:3214
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia OMIM:610539
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperuricemia, Polycystic ovaries, Hyperinsulinemia, Hyperglycemia, Hypertrigl... OMIM:604367
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Thrombocytopenia, Optic atrophy, Splenomegaly, Neutropenia ORPHA:79312
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... OMIM:613835
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy ORPHA:27
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Aggressive behavior, Hyperinsulinemia ORPHA:329249
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... ORPHA:398063
Free Sialic Acid Storage Disease
Iris hypopigmentation, Splenomegaly, Abnormality of skin pigmentation ORPHA:834
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Hermansky-Pudlak Syndrome
Cataract, Iris hypopigmentation, Long eyelashes, Astigmatism, Hypopigmentation of the skin, Hypop... ORPHA:79430
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Atelis Syndrome 1
Irregular hyperpigmentation, Leukopenia, Anemia, Cafe-au-lait spot, Thrombocytopenia OMIM:620184
Waardenburg Syndrome, Type 4C
Blue irides, Cryptorchidism, Hypogonadism, Hypopigmented skin patches, Premature graying of hair,... OMIM:613266
Acute Promyelocytic Leukemia
Gingival bleeding, Leukocytosis, Diffuse alveolar hemorrhage, Bruising susceptibility, Leukopenia... ORPHA:520
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Hyperinsulinemia, Hypoplasia of penis, Abnormality of retin... ORPHA:791
Leigh Syndrome With Leukodystrophy
Hypertrichosis, Pigmentary retinopathy, Optic atrophy, Anemia ORPHA:255241
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albinism ORPHA:2786
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hirsutism, Hyperinsulinemic hypoglycemia, Insulin-res... ORPHA:2298
Pseudohypoparathyroidism Type 1A
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Band keratopathy, Hypergonadotropic ... ORPHA:79443
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Polycystic ovaries, Abnormal pupil morphology, Retinal det... ORPHA:2969
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Jeune Syndrome
Renal insufficiency, Nephropathy, Nephronophthisis, Abnormality of retinal pigmentation ORPHA:474
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Thrombocytopenia, Megaloblastic anemia, Retinal dystrophy ORPHA:49827
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Lupus nephritis, Thrombocytopenia, Nephritis OMIM:152700
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Zellweger Syndrome
Cataract, Brushfield spots, Cryptorchidism, Clitoral hypertrophy, Cognitive impairment, Posterior... ORPHA:912
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Monocytosis, Renal insufficiency... OMIM:619644
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair, Abnormality of retinal pigmentation ORPHA:1264
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabet... OMIM:606176
Babesiosis
Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia, Splenomegaly ORPHA:108
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia OMIM:616576
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Thrombocytopenia, Splenomegaly, Anemia OMIM:615085
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Decreased circulating antibody... OMIM:618116