Gene Summary

Name:
zinc finger protein 462
Synonyms:
Zfpip,  Gt4-2,  9430078C22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Zfp462em1(IMPC)Tcp HET Early adult 3.09×10-11
thrombocytopenia Zfp462em1(IMPC)Tcp HET Early adult 5.71×10-08
increased total body fat amount Zfp462em1(IMPC)Tcp HET Early adult 3.80×10-07
preweaning lethality, complete penetrance Zfp462em1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Zfp462em1(IMPC)Tcp HOM E15.5 0.00
impaired glucose tolerance Zfp462em1(IMPC)Tcp HET Early adult 3.40×10-05
decreased lean body mass Zfp462em1(IMPC)Tcp HET Early adult 3.74×10-10
edema Zfp462em1(IMPC)Tcp HOM E15.5 0.00
abnormal retina blood vessel morphology Zfp462em1(IMPC)Tcp HET   Early adult 6.93×10-05
abnormal retina vasculature morphology Zfp462em1(IMPC)Tcp HET   Early adult 7.04×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Eye Morphology

Images Ophthalmoscopy

96 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Zfp462 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 Zfp462 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Weiss-Kruszka Syndrome
Downslanted palpebral fissures, Epicanthus, Highly arched eyebrow, Ptosis OMIM:618619

The table below shows human diseases predicted to be associated to Zfp462 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Moynahan Syndrome
Alopecia, Cachexia, Sparse hair, Short stature ORPHA:2574
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Oliver-Mcfarlane Syndrome
Severe short stature, Sparse hair, Alopecia, Small for gestational age, Long eyelashes, Delayed p... OMIM:275400
Pseudoprogeria Syndrome
Failure to thrive, Decreased body weight, Absent eyebrow, Sparse hair, Short stature, Alopecia, S... ORPHA:2985
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Severe short stature OMIM:302000
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
L-Ferritin Deficiency
Alopecia OMIM:615604
Candidiasis, Familial, 1
Alopecia OMIM:114580
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair ORPHA:1008
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lymphatic Malformation 2
Lymphedema OMIM:611944
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Kerion Celsi
Alopecia ORPHA:499
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Short stature, Brittle hair, Sparse eyelashes, Absent p... OMIM:129500
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, ... ORPHA:2251
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Alopecia OMIM:604931
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Trichotillomania
Hair-pulling, Alopecia OMIM:613229
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Short stature, Dystrophic toenail, Fine hair, Dystro... ORPHA:1882
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... OMIM:615285
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Optic atrophy, Neutropenia, Sideroblastic anemia, Diabete... OMIM:598500
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... OMIM:613573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Chilblain Lupus 2
Edema OMIM:614415
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Short stature, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:2850
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... OMIM:180080
Erythrokeratodermia Variabilis
Generalized hirsutism, Alopecia, Short stature, Weight loss, Abnormality of the nail, Abnormal ha... ORPHA:317
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Malaria
Retinopathy, Anemia, Thrombocytopenia ORPHA:673
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... ORPHA:2325
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megalo... OMIM:229050
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Severe short stature, Alopecia OMIM:203550
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Brittle hair, Alopecia, Short stature, Intrauterine growth retardation ORPHA:50812
Porphyria Cutanea Tarda
Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mell... OMIM:249270
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Abnormal hair morphology, Patchy alopecia ORPHA:346
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Retinal dystrophy, Optic atrophy, Diabetes mellitus, Thrombocytopenia ORPHA:49827
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Abnormal macular morphology, Thrombocytopenia, Anemia, Bone... OMIM:607616
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Alopecia, Sparse hair, Short stature OMIM:617763
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... ORPHA:129
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Dystonia OMIM:610329
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow OMIM:104100
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Hermansky-Pudlak Syndrome 9
Ocular albinism, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Hypopigmentation of... OMIM:614171
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Self-injurious behavior, Abnormal toenail morphology, Alopecia ORPHA:494
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619302
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Growth delay, Delayed puberty, Alopecia OMIM:615704
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Abnormality of the nail, Short stature ORPHA:79394
White Sponge Nevus 2
Edema OMIM:615785
Skin Fragility-Woolly Hair Syndrome
Failure to thrive, Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:607655
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619301
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocyto... ORPHA:79312
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Intention tremor, Action tremor, Postural tremor, Thrombocytopenia OMIM:254900
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:67048
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Alopecia OMIM:612079
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Dyskeratosis Congenita, Autosomal Recessive 6
Failure to thrive, Sparse hair, Alopecia, Nail dystrophy, Intrauterine growth retardation OMIM:616353
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia OMIM:136300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Severe short stature, Severe failure to thrive, Alopecia OMIM:215100
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Alopecia, Depression, Emotional lability, Increased body weight OMIM:615830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia ORPHA:289916
Cronkhite-Canada Syndrome
Hypoplastic toenails, Patchy alopecia, Alopecia, Sparse body hair, Cachexia, Aplasia/Hypoplasia o... ORPHA:2930
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Alopecia totalis, Nail dystrophy OMIM:212360
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Short stature, Rhizomelia, Growth delay ORPHA:177
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy ORPHA:141184
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Anemia, Hepatosplenomegaly, Optic atrophy, Optic disc pallor, Reticulocytosis, Thro... OMIM:611490
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Irritability, Alopecia ORPHA:79242
Congenital Toxoplasmosis
Anemia, Abnormality of retinal pigmentation, Failure to thrive in infancy, Thrombocytopenia ORPHA:858
Wolfram Syndrome 1
Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Tremor, Diabetes m... OMIM:222300
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Absent eyelashes, Abnormality of the nail OMIM:607823
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Alopecia, Short stature, Nail dystrophy, Growth delay ORPHA:1867
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia, Thrombocytopenia ORPHA:27
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Nicolaides-Baraitser Syndrome
Severe short stature, Sparse hair, Alopecia, Abnormal hair pattern, Curly eyelashes, Long eyelash... ORPHA:3051
Renpenning Syndrome
Abnormal hairshaft morphology, Severe short stature, Alopecia, Cachexia, Thin eyebrow, Growth delay ORPHA:3242
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Splenomegaly, Type I diabetes mellitus, Anemia, Thrombocytop... ORPHA:290
Wt Limb-Blood Syndrome
Hypoplastic anemia, Joint contracture of the 5th finger, Pancytopenia, Thrombocytopenia, Leukemia OMIM:194350
Stt3B-Cdg
Optic atrophy, Failure to thrive, Thrombocytopenia ORPHA:370924
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Alopecia ORPHA:337
Alpha-Heavy Chain Disease
Growth delay, Alopecia ORPHA:100025
Preeclampsia
Thrombocytopenia, Type I diabetes mellitus, Small for gestational age ORPHA:275555
Johnson Neuroectodermal Syndrome
Failure to thrive, Severe short stature, Absent eyebrow, Sparse hair, Alopecia, Absent eyelashes ORPHA:2316
Lipoid Proteinosis Of Urbach And Wiethe
Aggressive behavior, Patchy alopecia OMIM:247100
Idiopathic Trachyonychia
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... ORPHA:79153
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta OMIM:614727
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Failure to thrive, Thrombocytopenia OMIM:615597
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Aicardi-Goutieres Syndrome 4
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Dystonia OMIM:610333
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Acrodermatitis Enteropathica
Failure to thrive, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Ridged finge... ORPHA:37
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Rod-cone dystrophy, Athetosis, Optic atrophy, Tremor, Hypoglycemia, Thrombocytopenia, Dystonia OMIM:617710
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Sparse eyebrow, Sparse eyelashes, Alopecia, Nail dystrophy, Scarring alopecia of ... OMIM:612843
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy OMIM:614594
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Alopecia, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation ORPHA:75389
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Ret... ORPHA:552
Isolated Agammaglobulinemia
Failure to thrive, Cellulitis, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia... ORPHA:229717
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Menkes Disease
Sparse hair, Brittle hair, Alopecia, Short stature, Intrauterine growth retardation OMIM:309400
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Alopecia, Depression, Short stature, Bipolar affective disorder OMIM:601853
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Sea-Blue Histiocytosis
Retinopathy, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Abnormal Hair, Joint Laxity, And Developmental Delay
Pili torti, Impulsivity, Alopecia, Fragile nails, Trichorrhexis nodosa, Aggressive behavior, Spar... OMIM:261990
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Short stature OMIM:600705
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Sparse hair, Alopecia, Short stature, Fragile nails OMIM:242150
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Abnormality o... ORPHA:3226
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Lymphatic Malformation 10
Lymphedema OMIM:619369
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Gaucher Disease, Type Iii
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Johnson Neuroectodermal Syndrome
Absent eyebrow, Sparse hair, Alopecia, Short stature, Absent eyelashes, Growth delay OMIM:147770
Sengers Syndrome
Thrombocytopenia OMIM:212350
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, B lymphocytopenia, Lipodystrophy, Increased CD4:CD8 ratio, Thrombocytopenia, D... OMIM:618048
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse body hair, Absent eyelashes ORPHA:69735
Epidermolysis Bullosa, Junctional 1A, Intermediate
Fragile nails, Nail dystrophy, Patchy alopecia OMIM:226650
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Amelogenesis imperfecta, Absent neutrop... OMIM:617475
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Sparse hair, Nail dystrophy, Alopecia OMIM:242300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, T... OMIM:304790
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Celiac Disease, Susceptibility To, 1
Failure to thrive, Short stature, Depression, Alopecia, Anxiety, Delayed puberty, Postnatal growt... OMIM:212750
Pelger-Huet Anomaly
Failure to thrive, Neutropenia, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils... OMIM:169400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp... ORPHA:2298
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Classic Mycosis Fungoides
Abnormality of the nail, Alopecia ORPHA:2584
Alg8-Cdg
Failure to thrive, Small for gestational age, Retinopathy, Camptodactyly, Optic atrophy, Abnormal... ORPHA:79325
Hypomelanosis Of Ito
Alopecia OMIM:300337
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Pancytopenia, Anemia, Thro... ORPHA:507
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Aggressive behavior, Patchy alopecia, Short stature ORPHA:85279
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Propionic Acidemia
Failure to thrive, Hypoglycemia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Dystonia OMIM:606054
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer c... OMIM:616050
Flynn-Aird Syndrome
Cachexia, Alopecia ORPHA:2047
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Sparse hair, Alopecia, Moderate postnatal growth retardation, Abnormal toen... ORPHA:1005
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Gaucher Disease, Type Ii
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Atrophic, patchy alopecia, Sparse pubic hair, Dystrophic toenail, Nail dyst... ORPHA:251393
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Pachyonychia Congenita
Failure to thrive, Alopecia, Paronychia, Onychogryposis of fingernail, Fingernail dysplasia, Onyc... ORPHA:2309
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Optic atrophy, Pancytopenia, Anemia, Thrombocyt... OMIM:259710
X-Linked Agammaglobulinemia
Alopecia, Failure to thrive, Weight loss, Short stature ORPHA:47
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hermansky-Pudlak Syndrome 5
Ocular albinism, Hypoplasia of the fovea, Impaired ADP-induced platelet aggregation, Absent plate... OMIM:614074
Omenn Syndrome
Failure to thrive, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia... OMIM:603554
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response, Flexion contracture OMIM:609541
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volu... ORPHA:86839
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse scalp hair, Hypoplastic toenails, Self-injurious behavior, Absent eyebrow, Sparse eyebrow,... ORPHA:544488
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Leukopenia, Diabetes mellitus, Anemia, Thrombocytopenia OMIM:613845
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne... OMIM:301078
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Growth delay, Abnormal hair morphology, Thin nail, Small nail OMIM:242100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Dyskeratosis Congenita, Digenic
Failure to thrive, Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth... OMIM:620040
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Bresek Syndrome
Growth delay, Intrauterine growth retardation, Alopecia ORPHA:85284
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Alopecia, Short stature, Fine hair, Growth delay, Premature graying of hair, Intr... OMIM:613990
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Thick hair, Sparse hair, Sparse eyelashes OMIM:607626
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Chediak-Higashi Syndrome
Neutropenia, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia... OMIM:214500
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia, Failure to thrive in infancy, Camptodactyly OMIM:611209
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Pili torti, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Synophr... ORPHA:3253
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia ORPHA:69077
Monosomy 18P
Alopecia, Low posterior hairline, Short stature ORPHA:1598
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Bathing Suit Ichthyosis
Sparse hair, Nail dystrophy, Alopecia ORPHA:100976
Lichen Planopilaris
Abnormal fingernail morphology, Onycholysis, Alopecia ORPHA:525
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Smith-Kingsmore Syndrome
Hypoglycemia, Thrombocytopenia, Large for gestational age, Umbilical hernia OMIM:616638
Fetal Gaucher Disease
Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multiplex congenita,... ORPHA:85212
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Rod-cone dystrophy, Thrombocytopenia ORPHA:96181
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Truncal obesity, Alopecia ORPHA:3224
Short Syndrome
Weight loss, Severe short stature, Sparse hair, Alopecia ORPHA:3163
Adult Syndrome
Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Fingernail dysplasia, Hypoplastic ... ORPHA:978
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Fine hair, Alopecia ORPHA:228390
Incontinentia Pigmenti
Nail dysplasia, Sparse hair, Supernumerary nipple, Alopecia, Short stature, Coarse hair, Atrophic... OMIM:308300
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Flexion contracture, Splenomegaly, Lipodystrophy, Anemia, Thrombo... OMIM:617591
Gaucher Disease, Type I
Splenomegaly, Macular atrophy, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Inguinal hernia, Neutropenia, Thrombocytopenia, Normochromic anemia OMIM:614857
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Absent circulating B cells, Thrombocytopenia OMIM:619693
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Opisthotonus, Leukopenia, Tremor, Choreoathetosis, Neutropenia, Neonatal hyp... OMIM:616271
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Hutchinson-Gilford Progeria Syndrome
Growth delay, Alopecia OMIM:176670
Rapp-Hodgkin Syndrome
Progressive alopecia, Sparse hair, Short stature, Decreased number of sweat glands, Fine hair, Pi... OMIM:129400
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Leukopenia, Hypoglycemia, Neutropenia, Thrombocytopenia OMIM:251000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Umbilical hernia, Neutropenia, Anemia, Thrombocytop... OMIM:614520
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Anxiety, Alopecia OMIM:600142
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Johanson-Blizzard Syndrome
Failure to thrive, Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth retardation ORPHA:2315
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Head titubation ORPHA:3240
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Keutel Syndrome
Alopecia, Short stature ORPHA:85202
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Growth delay, Hirsutism, Alopecia, Depression, Emotional lability, Increased b... ORPHA:189439
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Splenomegaly, Optic atrophy, Enamel hypoplasia, Pancytopenia, Thrombocytopenia OMIM:614576
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Abnormal glucose homeostasis, Neutropenia, Thrombocytope... ORPHA:391673
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Cachexia, Nail dystrophy, Alopecia OMIM:175500
Kury-Isidor Syndrome
Growth delay, Hypertrichosis, Alopecia OMIM:619762
Macs Syndrome
Decreased body weight, Sparse hair, Sparse eyebrow, Alopecia, Short stature OMIM:613075
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Hirsutism, Alopecia, Depression, Emotional lability, Increased body weight ORPHA:189427
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Intrauterine growth retardation, Small... ORPHA:166035
Lig4 Syndrome
Failure to thrive, Thrombocytopenia, Pancytopenia OMIM:606593
Mandibuloacral Dysplasia
Postnatal growth retardation, Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio OMIM:150550
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Splenomegaly, Optic atrophy, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Pancytopenia, Tremor, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Alopecia ORPHA:39041
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Mevalonic Aciduria
Failure to thrive, Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Hepatos... OMIM:610377
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Congenital Disorder Of Glycosylation, Type Im
Sparse eyelashes, Failure to thrive, Sparse eyebrow, Alopecia OMIM:610768
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Multiple Carboxylase Deficiency
Alopecia ORPHA:148
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased propor... OMIM:614700
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Felty Syndrome
Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Anemia, Throm... ORPHA:47612
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Growth delay, Alopecia universalis, Irritability OMIM:277440
Wars2-Related Combined Oxidative Phosphorylation Defect
Rod-cone dystrophy, Athetosis, Tremor, Limb dystonia, Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Adams-Oliver Syndrome
Failure to thrive, Sparse hair, Alopecia, Absent fingernail, Hypoplastic fingernail, Aplastic/hyp... ORPHA:974
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Hypoplastic fingernail, Alopecia ORPHA:257
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Satoyoshi Syndrome
Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology, Short stature ORPHA:3130
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Anemia, Thrombocytopenia, Camptodactyly OMIM:608104
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Nail dystrophy OMIM:308205
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia OMIM:253270
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal... ORPHA:331206
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Rothmund-Thomson Syndrome, Type 2
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Short stature, Small for gestational ag... OMIM:268400
Pseudo-Torch Syndrome 1
Failure to thrive, Splenomegaly, Umbilical hernia, Thrombocytopenia, Dystonia OMIM:251290
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Short stature, Small for gestational age, Delayed puberty, Low posterior hairline ORPHA:2959
Autosomal Dominant Hypocalcemia
Alopecia, Depression, Anxiety, Abnormal fingernail morphology, Emotional lability, Abnormality of... ORPHA:428
Transaldolase Deficiency
Failure to thrive, Splenomegaly, Small for gestational age, Hepatosplenomegaly, Pancytopenia, Ane... OMIM:606003
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Thrombocytopenia, Normochromic anemia, Small for gestational age OMIM:618775
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Alopecia OMIM:616367
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Gapo Syndrome
Sparse eyebrow, Alopecia, Short stature, Sparse eyelashes, Early balding, Growth delay ORPHA:2067
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Alopecia universalis, Anonychia, Alopecia totalis OMIM:609638
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Sparse eyelashes, Severe postnatal growth retardation, Short stature, Coarse hair... ORPHA:35173
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Wilson Disease
Failure to thrive, Splenomegaly, Weight loss, Increased body weight, Anemia, Thrombocytopenia ORPHA:905
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Onychogryposis, Alopecia ORPHA:79395
Gapo Syndrome
Nail dysplasia, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoplastic nipples, Bre... OMIM:230740
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Macular edema, Retinal neovascularization, Normocytic anemi... ORPHA:247691
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Thrombocytopenia, Optic atrophy, Tremor, Anemia, Exudative retinopathy, D... OMIM:612199
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Splenomegaly, Leukopenia, Chorioretinal hypopigmentation, Optic atrophy, Neu... OMIM:617303
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy ORPHA:263501
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Sparse hair, Brittle hair, Alopecia OMIM:608612
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Sparse hair, Alopecia, Ridged nail, Nail dystrophy, Nail pits OMIM:127550
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:251880
Overlap Myositis
Leukopenia, Thrombocytopenia, Abnormality of connective tissue, Diabetes mellitus ORPHA:206572
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Abnormality of the periungual region, Alopecia, Alopecia totalis, Nail dystrophy ORPHA:293978
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Tremor, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:274150
Sézary Syndrome
Nail dystrophy, Alopecia ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia ORPHA:169154
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia ORPHA:412057
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Growth delay, Nail dystrophy, Alopecia OMIM:226600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Sparse eyebrow, Alopecia, Sparse facial hair, Sparse pubic hair, Bre... ORPHA:2232
Braddock-Carey Syndrome 1
Enamel hypoplasia, Thrombocytopenia, Camptodactyly OMIM:619980
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Failure to thrive, Pigmentary retinopathy, Tremor, Neutropenia, Thrombocyto... OMIM:277400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Decreased body weight, Thick eyebrow, Patchy alopecia, Short stature, Aggressi... OMIM:300534
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Alopecia, Absent eyelashes OMIM:137940
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Nail dystrophy, Delayed puberty, Abnormal hair morphology ORPHA:90154
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Ocular albinism, Splenomegaly, Hepatosplenomegaly, Thrombocytop... OMIM:608233
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Ane Syndrome
Alopecia, Delayed puberty, Short stature ORPHA:157954
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Optic nerve hypoplasia, Leukopenia, Arthrogryposis multiplex congenita... OMIM:301056
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Failure to thrive, Sparse eyebrow, Alopecia, Short stature, Sparse eyelashes, ... OMIM:614008
Cyclic Neutropenia
Lymphopenia, Cellulitis, Cyclic neutropenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity, Abnormal hair quantity, Alopecia ORPHA:457059
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Small for gestational a... OMIM:557000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Monocyto... OMIM:612541
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Diffuse Alveolar Hemorrhage
Weight loss, Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Lysosomal Acid Lipase Deficiency
Failure to thrive, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-m... OMIM:278000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Umbilical hernia OMIM:149400
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Growth delay, Short stature OMIM:163200
Farber Disease
Failure to thrive, Cherry red spot of the macula, Flexion contracture, Macular degeneration, Hepa... ORPHA:333
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Tremor, Th... ORPHA:525731
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies