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Gene: Zfp462 MGI:107690

Gene Summary

Name:

zinc finger protein 462

Synonyms:

Zfpip, Gt4-2, 9430078C22Rik

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	Allele	Zyg	Life Stage	P Value
edema	Zfp462^em1(IMPC)Tcp	HOM	E15.5	0.00
impaired glucose tolerance	Zfp462^em1(IMPC)Tcp	HET	Early adult	3.40×10^-05
thrombocytopenia	Zfp462^em1(IMPC)Tcp	HET	Early adult	5.71×10^-08
preweaning lethality, complete penetrance	Zfp462^em1(IMPC)Tcp	HOM	Early adult	0.00
increased total body fat amount	Zfp462^em1(IMPC)Tcp	HET	Early adult	1.42×10^-06
abnormal embryo size	Zfp462^em1(IMPC)Tcp	HOM	E15.5	0.00
decreased lean body mass	Zfp462^em1(IMPC)Tcp	HET	Early adult	1.60×10^-10
increased startle reflex	Zfp462^em1(IMPC)Tcp	HET	Early adult	3.49×10^-11

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

96 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

96 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Human diseases associated with Zfp462 (1 diseases)
Human diseases predicted to be associated with Zfp462 (754 diseases)

The table below shows human diseases associated to Zfp462 by orthology or direct annotation.

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

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

Disease	Matching phenotypes	Source
Lipedema	Edema	OMIM:614103
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
L-Ferritin Deficiency	Restless legs, Alopecia	OMIM:615604
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Thumb Deformity And Alopecia	Alopecia, Short stature	OMIM:188150
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Moynahan Syndrome	Sparse hair, Alopecia, Short stature, Cachexia	ORPHA:2574
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed...	OMIM:275400
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease...	ORPHA:2985
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Abnormality of the nail	OMIM:302000
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair	ORPHA:3363
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Kerion Celsi	Alopecia	ORPHA:499
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ...	ORPHA:2251
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy...	ORPHA:1882
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Erythrokeratodermia Variabilis	Alopecia, Short stature, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generali...	ORPHA:317
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to thrive, Th...	OMIM:229050
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of...	ORPHA:2850
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Alopecia, Severe short stature	OMIM:203550
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive	ORPHA:50812
Aicardi-Goutieres Syndrome 3	Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Dystrophic to...	ORPHA:2930
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obes...	ORPHA:3077
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty	OMIM:615704
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Congenital Ichthyosiform Erythroderma	Alopecia, Failure to thrive, Short stature, Abnormality of the nail	ORPHA:79394
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor	OMIM:610539
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
White Sponge Nevus 2	Edema	OMIM:615785
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Holocarboxylase Synthetase Deficiency	Alopecia, Anorexia, Weight loss, Growth delay, Irritability	ORPHA:79242
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive	OMIM:616353
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe failure to thrive, Alopecia, Severe short stature, Rhizomelia	OMIM:215100
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair	ORPHA:177
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased body weight, Depression, Emotional lability, Hirsutism	OMIM:615830
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79312
Wt Limb-Blood Syndrome	Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo...	ORPHA:3051
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Paronychia, Weight l...	ORPHA:37
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Alpha-Heavy Chain Disease	Growth delay, Alopecia	ORPHA:100025
Preeclampsia	Type I diabetes mellitus, Small for gestational age, Thrombocytopenia	ORPHA:275555
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Short stature, Growth delay, Nail dystrophy, Atrichia	ORPHA:1867
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, Growth delay, Thin eyebrow	ORPHA:3242
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Agitation	OMIM:618840
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta	OMIM:614727
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Neutropenia, Choreoathetosis, Anemia, Dystonia, Thrombocytopenia	ORPHA:289916
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair, Failure to thrive	ORPHA:2316
Isolated Agammaglobulinemia	Abnormality of neutrophils, Thrombocytopenia, Cellulitis, Abnormal lymphocyte morphology, Failure...	ORPHA:229717
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Aggressive behavior	OMIM:247100
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation	ORPHA:75389
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Menkes Disease	Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation	OMIM:309400
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Alopecia, Short stature, Depression, Self-injurious behavior	OMIM:601853
Satoyoshi Syndrome	Alopecia, Short stature, Alopecia universalis	OMIM:600705
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Short stature, Sparse hair, Failure to thrive, Fragile nails	OMIM:242150
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615085
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight	OMIM:231000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Short stature, Delayed puberty	OMIM:612079
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly	OMIM:619751
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur...	OMIM:226990
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ...	OMIM:261990
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, B lymphocytopenia, Failure to thrive, Decreased proportio...	OMIM:618048
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Specific Granule Deficiency 2	Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Am...	OMIM:617475
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Choreoathetosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:27
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Propionic Acidemia	Pancytopenia, Hypoglycemia, Neutropenia, Anemia, Dystonia, Failure to thrive, Thrombocytopenia	OMIM:606054
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:858
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Dysphagia, Intrauterine growth retarda...	OMIM:620040
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature	ORPHA:88630
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Flexion contracture	OMIM:618201
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro...	ORPHA:507
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo...	OMIM:616050
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Increased body...	ORPHA:2298
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Tremor, Thrombocytopenia	OMIM:222300
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Tremor, Athetosis, Dystonia, Thrombocytopenia	OMIM:617710
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:613845
Kury-Isidor Syndrome	Growth delay, Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis	OMIM:619762
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla...	ORPHA:544488
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m...	OMIM:301078
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t...	ORPHA:2309
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Flynn-Aird Syndrome	Alopecia, Cachexia	ORPHA:2047
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Anorexia, Nail dystrophy, Nail dysplasia	OMIM:175500
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus	OMIM:184850
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus	ORPHA:290
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus	ORPHA:3198
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive	OMIM:605676
Celiac Disease, Susceptibility To, 1	Alopecia, Short stature, Postnatal growth retardation, Weight loss, Depression, Delayed puberty, ...	OMIM:212750
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia, Short stature, Aggressive behavior	ORPHA:85279
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ...	ORPHA:1005
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Short stature, Weight loss	ORPHA:47
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Gm2 Gangliosidosis, Ab Variant	Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavior, Short stature	ORPHA:309246
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop...	OMIM:614520
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia	ORPHA:3240
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail	OMIM:242100
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha...	OMIM:129400
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip...	ORPHA:85212
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Alopecia	ORPHA:85284
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Rhabdoid Tumor	Thrombocytopenia, Anemia, Weight loss	ORPHA:69077
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Panniculitis, Failure to t...	OMIM:617591
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Lig4 Syndrome	Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,...	OMIM:606593
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Neonatal hypoglycemia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Leuk...	OMIM:616271
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br...	OMIM:308300
Monosomy 18P	Alopecia, Short stature, Low posterior hairline	ORPHA:1598
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251000
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:614857
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Supernumerary nipple	ORPHA:3224
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Alopecia, Fine hair	ORPHA:228390
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Necrotizing Enterocolitis	Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia...	ORPHA:391673
Short Syndrome	Sparse hair, Alopecia, Severe short stature, Weight loss	ORPHA:3163
Smith-Kingsmore Syndrome	Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age	OMIM:616638
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Growth delay, Nail dystrophy, Nail dysplasia, Dysphagia	OMIM:226600
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Johanson-Blizzard Syndrome	Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth retardation, Failure to thrive	ORPHA:2315
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Nail dysplasia, Intr...	OMIM:613990
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Hutchinson-Gilford Progeria Syndrome	Growth delay, Alopecia	OMIM:176670
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Increased body weight, Depression, Abdominal obesity, Emotional lability, Mania, Hirsutism	ORPHA:189427
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Alopecia	ORPHA:453533
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptodactyly, Failure...	ORPHA:79325
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia	OMIM:619644
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Small nail, Intrauterine growth retard...	ORPHA:166035
Macs Syndrome	Alopecia, Short stature, Sparse eyebrow, Decreased body weight, Sparse hair	OMIM:613075
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Postnatal growth retardation, Hypoplastic fingernail	ORPHA:2457
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes	OMIM:610768
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Omenn Syndrome	Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Cog4-Cdg	Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Delayed menarche, Alopecia, Dysphagia	ORPHA:412057
Felty Syndrome	Splenomegaly, Cellulitis, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Throm...	ORPHA:47612
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Pseudo-Torch Syndrome 1	Splenomegaly, Dystonia, Umbilical hernia, Failure to thrive, Thrombocytopenia	OMIM:251290
Vitamin D-Dependent Rickets, Type 2A	Growth delay, Irritability, Failure to thrive, Alopecia universalis	OMIM:277440
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis	ORPHA:3130
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Failure to thrive, Anemia, Camptodactyly	OMIM:608104
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl...	ORPHA:974
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Short stature, Aggressive behavior, Patchy alopecia, Low frustration...	OMIM:300534
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr...	OMIM:606003
Immunodeficiency 22	Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to thrive, Thr...	OMIM:615758
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Small for gestation...	OMIM:268400
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia	OMIM:149400
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Small for gestational age, Short stature, Low posterior hairline, Delayed puberty	ORPHA:2959
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Overlap Myositis	Leukopenia, Diabetes mellitus, Abnormality of connective tissue, Thrombocytopenia	ORPHA:206572
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Adrenoleukodystrophy	Alopecia, Attention deficit hyperactivity disorder	OMIM:300100
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal...	ORPHA:35173
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes	OMIM:137940
Gapo Syndrome	Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Growth delay	ORPHA:2067
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Tremor, Thrombocytopenia, Splenomegaly, Neutropenia, L...	OMIM:214500
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ...	OMIM:614008
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Growth delay	OMIM:608612
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Splenomegaly, Enamel hypoplasia, Failure to thrive, Thrombocytopenia	OMIM:614576
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Small for gestational age, Alopecia totalis	OMIM:618775
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Ane Syndrome	Alopecia, Short stature, Delayed puberty	ORPHA:157954
Sézary Syndrome	Alopecia, Nail dystrophy	ORPHA:3162
Leukodystrophy, Hypomyelinating, 13	Joint contracture, Exaggerated startle response, Failure to thrive	OMIM:616881
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive	ORPHA:169154
Braddock-Carey Syndrome 1	Enamel hypoplasia, Thrombocytopenia, Camptodactyly	OMIM:619980
Cyclic Neutropenia	Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia	ORPHA:2686
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro...	ORPHA:2232
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty	ORPHA:90154
Holocarboxylase Synthetase Deficiency	Irritability, Alopecia	OMIM:253270
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia	ORPHA:169105
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia	OMIM:611126
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Giant Cell Arteritis	Depression, Alopecia, Anorexia, Weight loss	ORPHA:397
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:613989
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp...	ORPHA:464
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Mirage Syndrome	Hypoglycemia, Anemia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopenia, Thrombo...	OMIM:617053
Leigh Syndrome	Alopecia, Growth delay, Dysphagia, Intrauterine growth retardation, Frontal hirsutism, Failure to...	ORPHA:506
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Erythroid hypoplasia, Thromboc...	OMIM:612541
Griscelli Syndrome	Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:381
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Alopecia, Short stature	OMIM:163200
Pediatric-Onset Graves Disease	Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Th...	ORPHA:525731
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:170100
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Wars2-Related Combined Oxidative Phosphorylation Defect	Tremor, Thrombocytopenia, Athetosis, Limb dystonia, Neonatal hypoglycemia	ORPHA:572798
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Flexion contracture	OMIM:609541
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi...	ORPHA:169090
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia, Failure to th...	OMIM:277380
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly...	ORPHA:508542
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal...	ORPHA:79124
Alstrom Syndrome	Truncal obesity, Alopecia, Short stature	OMIM:203800
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Depression, Emotional lability, Abnormality of the nail	ORPHA:428
Immunodeficiency 7	Failure to thrive, Patchy alopecia	OMIM:615387
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia	ORPHA:96181
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Normochromic anemia, Intention tremor, Thrombocytopenia, Action tremor	OMIM:254900
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures	ORPHA:320406
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Short stature	ORPHA:93160
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop...	OMIM:242900
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia	ORPHA:99901
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Arthrogryposis multiplex congenita, Small for gestational age, Thrombocytopenia	OMIM:301056
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Intrauterine growth r...	OMIM:613451
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Breast aplasia	ORPHA:90153
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Failure to thrive, Anemia	ORPHA:3322
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Thrombocytopenia, Decreased proportion of naive CD8...	ORPHA:1830
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Short stature, Obesity	ORPHA:98907
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Short stature, Abnormal ey...	ORPHA:1775
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Leukocytos...	OMIM:610377
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp...	OMIM:230740
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arthrogryposis multiplex congenita, Failure to thrive, Small for gestational age, Thrombocytopenia	OMIM:208085
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive	OMIM:210210
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to ...	OMIM:603553
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Gaucher Disease, Perinatal Lethal	Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Decreased body weight, Arthrogryposis mul...	OMIM:608013
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Patchy alopecia, Spar...	OMIM:302960
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Synophrys, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Flexion contracture, Reticulocytopenia, Anemia, Neutrope...	OMIM:227645
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia	OMIM:267700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Nail dystrophy, Alopecia universalis	OMIM:240300
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Short stature	OMIM:617763
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Postnatal growth retardation, Growth delay, Onychogryposis	OMIM:248370
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Failure to thrive in infancy, Alopecia universalis	OMIM:606367
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Joint contracture, Exaggerated startle response, Failure to thrive	OMIM:617864
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Flexion contracture, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
H Syndrome	Abnormal eyebrow morphology, Alopecia, Short stature, Delayed puberty, Hypertrichosis	ORPHA:168569
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia, Dystonia	OMIM:225750
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Growth delay, Nail dystrophy, Failure to thrive, Onychogryposis	ORPHA:79396
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Nail dystrophy, Failure to thrive, Abnormality of the periungual region	ORPHA:293978
Rothmund-Thomson Syndrome Type 1	Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas...	ORPHA:221008
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Limb joint contracture	OMIM:620327
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism	ORPHA:79330
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Short stature, Small for gestational age, Sparse eyebrow, Sma...	ORPHA:2909
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Failure to thrive, Hypoglycemia, Thrombocytopenia	OMIM:251880
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia	OMIM:617718
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar...	OMIM:617301
Sepsis In Premature Infants	Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Decreased body weight...	ORPHA:90051
Wilson Disease	Hemolytic anemia, Dystonia, Tremor, Splenomegaly, Hand tremor, Anemia, Glycosuria, Limb dystonia,...	OMIM:277900
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Tremor, Thrombocytopenia, Splenomegaly, Vacuolated l...	ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Alg12-Cdg	Recurrent hypoglycemia, Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly, Fai...	ORPHA:79324
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Hirsutism	ORPHA:90795
Noonan Syndrome 4	Thrombocytopenia, Large for gestational age	OMIM:610733
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Juvenile Dermatomyositis	Alopecia, Dysphagia, Weight loss	ORPHA:93672
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Tremor, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:277400
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Hypertrichosis	OMIM:263700
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Farber Disease	Flexion contracture, Hepatosplenomegaly, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:333
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly	OMIM:616737
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Failure to thrive, Short stature, Abnormal hair morphology, Abn...	ORPHA:79474
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Limb dystonia	ORPHA:457351
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Intr...	OMIM:263650
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Failure to thrive in infancy, Anemia, Camptodactyly	ORPHA:261323
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia	ORPHA:37042
Shigellosis	Failure to thrive in infancy, Hypoglycemia, Leukocytosis, Microangiopathic hemolytic anemia, Sple...	ORPHA:810
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Postural tremor, Limb joint contracture, Splenomegaly, Flexion contracture, Truncal obesity, Thro...	OMIM:301072
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Small for gestational age, Postnatal growth retardation, Inappropriate laughter, Attent...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Small for gestational age, Postnatal growth retardation, Inappropriate laughter, Attent...	ORPHA:363958
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ...	OMIM:612394
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:617941
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Failure to thrive, Anemia	OMIM:603467
Proteasome-Associated Autoinflammatory Syndrome 1	Flexion contracture of finger, Lipodystrophy, Camptodactyly of finger, Impaired glucose tolerance...	OMIM:256040
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Rothmund-Thomson Syndrome Type 2	Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas...	ORPHA:221016
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis	ORPHA:158668
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Tremor, Thrombocytopenia, Anemia, Dystonia	OMIM:612199
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Lujo Hemorrhagic Fever	Resting tremor, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Bacterial Toxic-Shock Syndrome	Fasciitis, Increased circulating myelocyte count, Cellulitis, Increased circulating metamyelocyte...	ORPHA:36234
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:230900
Lathosterolosis	Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Short stature, Failure to thrive, ...	OMIM:264090
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Short stature, Failure to thrive in infancy, Hypoplasti...	ORPHA:99413
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Short stature, Failure to thrive in infancy, Hypoplasti...	ORPHA:881
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Short stature, Failure to thrive in infancy, Hypoplasti...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Short stature, Failure to thrive in infancy, Hypoplasti...	ORPHA:99226
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Abn...	ORPHA:2273
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Abnormal odontoid tissue morphology, Hepatosplenomegaly	ORPHA:79255
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Linear Nevus Sebaceus Syndrome	Growth delay, Alopecia	ORPHA:2612
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Short stature, Mild intrauterine growth retardation, Small nail	OMIM:308050
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Dysphagia	ORPHA:90291
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Neonatal alloimmune thrombocytopenia...	ORPHA:51
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227646
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Pterygium of nails, Premature...	OMIM:305000
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss	ORPHA:160
Biotinidase Deficiency	Alopecia	OMIM:253260
Atelis Syndrome 2	Thrombocytopenia, Hyperinsulinemia, Anemia	OMIM:620185
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair, Short stature	OMIM:311200
Neuroleptic Malignant Syndrome	Oculogyric crisis, Tremor, Leukocytosis, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Xeroderma Pigmentosum	Alopecia, Failure to thrive, Short stature	ORPHA:910
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Tay-Sachs Disease	Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia	ORPHA:845
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Splenomegaly, Anemia...	ORPHA:699
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Hernia, Thrombocytopenia	ORPHA:505248
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Splenomeg...	ORPHA:79277
Monosomy 22Q13.3	Hyperactivity, Hypoplastic toenails, Hair-pulling, Obesity, Long eyelashes, Bruxism, Thick eyebrow	ORPHA:48652
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:300972
Lysinuric Protein Intolerance	Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thrive, Thrombocy...	OMIM:222700
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Exaggerated startle response, Failure to thrive	OMIM:617527
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Autosomal Dominant Robinow Syndrome	Alopecia, Severe short stature, Short stature, Curly eyelashes, Long eyelashes, Fingernail dyspla...	ORPHA:3107
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Megaloblastic anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79282
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Failure to thrive, Paronychia, Growth delay, Nail dystrophy, Anonychia, Abnormality of ...	ORPHA:79404
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Alopecia, Short stature, Abdominal obesity	OMIM:619321
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Dystonia, Thrombocytopenia	OMIM:615846
Autosomal Recessive Robinow Syndrome	Disproportionate short-limb short stature, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Bloom Syndrome	Sparse eyelashes, Small for gestational age, Paronychia, Growth delay, Severe postnatal growth re...	ORPHA:125
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Absence of subcutaneous fat, Anemia, Lymphopenia, Thr...	OMIM:620005
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive	OMIM:615574
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Q Fever	Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:781
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia	ORPHA:536532
Tick-Borne Encephalitis	Tremor, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Biotinidase Deficiency	Alopecia	ORPHA:79241
Deeah Syndrome	Decreased hemoglobin concentration, Neonatal hypoglycemia, Thrombocytopenia, Decreased body weight	OMIM:619004
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Flexion contracture	OMIM:253800
Behcet Syndrome	Irritability, Patchy alopecia	OMIM:109650
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Pilomatrixoma, Abnormal fear-indu...	ORPHA:353281
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Colchicine Poisoning	Alopecia	ORPHA:31824
Steinert Myotonic Dystrophy	Alopecia, Oral-pharyngeal dysphagia, Aggressive behavior, Early balding, Depression, Emotional la...	ORPHA:273
Cornelia De Lange Syndrome 1	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Elbow flexion contracture, Throm...	OMIM:122470
Ogden Syndrome	Torticollis, Inguinal hernia, Maternal diabetes, Iron deficiency anemia, Minimal subcutaneous fat...	OMIM:300855
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Short stature, Absent eyel...	OMIM:308205
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Jacobsen Syndrome	Failure to thrive, Flexion contracture, Thrombocytopenia	OMIM:147791
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Microcytic anemia, Splenomegaly, Anemia, Type I diabetes mellitus, Failure to th...	OMIM:619525
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytop...	ORPHA:487796
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Brucellosis	Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Weight lo...	ORPHA:1304
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Loss of eyelashes, Thin eyebrow, Sparse hair, Intrauterine growth...	ORPHA:2636
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Failure to thrive, Thrombocytopenia	ORPHA:2785
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Chronic Graft Versus Host Disease	Alopecia, Anorexia, Weight loss, Onycholysis, Nail dystrophy, Dysphagia	ORPHA:99921
Kikuchi-Fujimoto Disease	Alopecia, Anorexia, Weight loss	ORPHA:50918
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Short stature, Trichiasis, Highly arched eyebrow, Postnatal growth retardation, Pi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Short stature, Trichiasis, Highly arched eyebrow, Postnatal growth retardation, Pi...	ORPHA:353277
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Systemic Lupus Erythematosus	Alopecia, Depression	ORPHA:536
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Diabetes mellitus, Thrombocytopenia	ORPHA:544482
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Woodhouse-Sakati Syndrome	Growth delay, Alopecia, Aplasia/Hypoplasia of the eyebrow, Delayed puberty	ORPHA:3464
Gaucher Disease	Pancytopenia, Tremor, Splenomegaly, Anemia, Arthrogryposis multiplex congenita, Thrombocytopenia	ORPHA:355
Scalp-Ear-Nipple Syndrome	Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi...	OMIM:181270
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormality of thrombocytes, Abnormal dental enamel morphology, Splenomegaly, Ob...	ORPHA:567
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair	ORPHA:548
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Oculocerebrorenal Syndrome Of Lowe	Inguinal hernia, Abnormal dental enamel morphology, Thrombocytopenia, Atypical scarring of skin, ...	ORPHA:534
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Thrombocytopenia	ORPHA:464321
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Umbilical ...	ORPHA:84
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Hypoglycemia, Neutrophilia in presence of infection, Leukopenia, Ab...	ORPHA:99826
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alopecia, Severe failure...	ORPHA:740
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight	ORPHA:340
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro...	ORPHA:2072
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Roberts Syndrome	Progressive flexion contractures, Wrist flexion contracture, Thrombocytopenia, Knee flexion contr...	ORPHA:3103
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia	ORPHA:470
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia	ORPHA:163979
Jacobsen Syndrome	Inguinal hernia, Thrombocytopenia	ORPHA:2308
African Trypanosomiasis	Irritability, Alopecia, Aggressive behavior, Weight loss	ORPHA:3385
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Umbilical hernia, Failure to thrive, Thrombocyto...	OMIM:301068
Osteogenesis Imperfecta	Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Flexion contractur...	ORPHA:666
Ring Chromosome 13 Syndrome	Growth delay, Alopecia	ORPHA:96176
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Liver Disease, Severe Congenital	Inguinal hernia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Hyperinsulinemic hypo...	OMIM:619991
Viss Syndrome	Sparse scalp hair, Alopecia, Short stature, Dysphagia, Failure to thrive, Hirsutism	OMIM:619472
Relapsing Polychondritis	Alopecia	ORPHA:728
Sarcoidosis	Hemolytic anemia, Eosinophilia, Scarring, Increased T cell count, Weight loss, Anemia, Leukopenia...	ORPHA:797
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Umbilic...	OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Weight loss	ORPHA:79078
Acute Liver Failure	Hypoglycemia, Thrombocytopenia	ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Chronic Visceral Acid Sphingomyelinase Deficiency	Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy...	ORPHA:77293
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Rhizomelia, Supernumerary nipple, Mesomelic/rhizom...	OMIM:601803
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Exaggerated startle response, Anemia, Dystonia	ORPHA:438213
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Vascular Ehlers-Danlos Syndrome	Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Aplasia/Hypopl...	ORPHA:286
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy	OMIM:163950
Weiss-Kruszka Syndrome	Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:618619
Leptospirosis	Thrombocytopenia	ORPHA:509
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

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

There is no histopathology data for Zfp462

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp462.

No publications found that use IMPC mice or data for Zfp462.

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

MGI Allele	Allele Type	Produced
Zfp462^{tm459827(L1L2_GT2_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Zfp462^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Zfp462^em1(IMPC)Tcp	Intra-exon deletion	Mice
Zfp462^{tm459785(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Zfp462 MGI:107690

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Morphology Embryo E14.5-E15.5

X-ray

Eye Morphology

MicroCT E14.5-E15.5

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Human diseases caused by Zfp462 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data