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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
decreased lean body mass	Zfp462^em1(IMPC)Tcp	HET	Early adult	1.14×10^-10
preweaning lethality, complete penetrance	Zfp462^em1(IMPC)Tcp	HOM	Early adult	0.00
thrombocytopenia	Zfp462^em1(IMPC)Tcp	HET	Early adult	5.71×10^-08
impaired glucose tolerance	Zfp462^em1(IMPC)Tcp	HET	Early adult	3.40×10^-05
increased total body fat amount	Zfp462^em1(IMPC)Tcp	HET	Early adult	1.55×10^-06
abnormal embryo size	Zfp462^em1(IMPC)Tcp	HOM	E15.5	0.00
increased startle reflex	Zfp462^em1(IMPC)Tcp	HET	Early adult	1.24×10^-07

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Eye Morphology

Images Ophthalmoscopy

96 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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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Gross Pathology and Tissue Collection

Images

8 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 (2 diseases)
Human diseases predicted to be associated with Zfp462 (777 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, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures	ORPHA:502430
Weiss-Kruszka Syndrome		Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures	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 universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Angioedema, Hereditary, 6	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619363
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
L-Ferritin Deficiency	Alopecia, Restless legs	OMIM:615604
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
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, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Thumb Deformity And Alopecia	Short stature, Alopecia	OMIM:188150
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
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 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair, Short stature	ORPHA:2574
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Trichotillomania	Compulsive behaviors, Alopecia, Hair-pulling	OMIM:613229
Oliver-Mcfarlane Syndrome	Severe short stature, Alopecia, Long eyelashes, Delayed puberty, Long eyebrows, Sparse hair, Smal...	OMIM:275400
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Abnormality of the nail	OMIM:302000
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb...	ORPHA:2985
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Long eyelashes, Sparse hair, Growth delay, Small for gestational age	ORPHA:3363
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Kerion Celsi	Alopecia	ORPHA:499
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dyspl...	ORPHA:2251
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Macular Dystrophy, Dominant Cystoid	Edema, Cystoid macular edema	OMIM:153880
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Short stature, S...	ORPHA:1882
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut...	OMIM:615285
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Short stature, Abnormalit...	ORPHA:317
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Growth delay, Spars...	ORPHA:2850
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Severe short stature, Severe postnatal growth retardation, Alopecia	OMIM:203550
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutrope...	OMIM:229050
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Failure to thrive, Intrauterine growth retardation, Brittle hair, Short stature	ORPHA:50812
Pontocerebellar Hypoplasia, Type 15	Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Aicardi-Goutieres Syndrome 3	Dystonia, Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Thrombocytopenia, Dystonia, Hemolytic anemia	OMIM:615010
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Pontocerebellar Hypoplasia, Type 14	Dystonia, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Delayed puberty, Growth delay	OMIM:615704
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex...	ORPHA:3077
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Anorexia, Hypopla...	ORPHA:2930
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus	OMIM:598500
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia, Failure to thrive, Hypoglycemia	ORPHA:67048
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Congenital Ichthyosiform Erythroderma	Short stature, Alopecia, Abnormality of the nail, Failure to thrive	ORPHA:79394
Alopecia Totalis	Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails	ORPHA:700
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
White Sponge Nevus 2	Edema	OMIM:615785
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Holocarboxylase Synthetase Deficiency	Alopecia, Irritability, Weight loss, Anorexia, Growth delay	ORPHA:79242
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor	OMIM:610539
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Failure to thrive, Intrauterine growth retardation, Nail dystrophy, Sparse hair	OMIM:616353
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Severe failure to thrive, Alopecia, Rhizomelia	OMIM:215100
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Nail dysplasia	OMIM:212360
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Depression, Emotional lability, Hirsutism, Increased body weight	OMIM:615830
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Immunodeficiency 46	Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Sparse body hair, Short stature, Growth delay	ORPHA:177
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Nicolaides-Baraitser Syndrome	Severe short stature, Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal ...	ORPHA:3051
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Failure to thrive, Abnormal eyebrow morphology, Ridged nail, Emotion...	ORPHA:37
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis	ORPHA:79312
Alpha-Heavy Chain Disease	Alopecia, Growth delay	ORPHA:100025
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Short stature, Growth delay, Congenital abnormal hair pattern	ORPHA:1867
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Renpenning Syndrome	Severe short stature, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Cachexia, Growth delay	ORPHA:3242
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Agitation	OMIM:618840
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Failure to thrive, Thrombocytopenia	OMIM:614727
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia	OMIM:610333
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis	ORPHA:289916
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia	ORPHA:49827
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Patchy alopecia	OMIM:247100
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ...	OMIM:612843
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Johnson Neuroectodermal Syndrome	Severe short stature, Alopecia, Failure to thrive, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2316
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Isolated Agammaglobulinemia	Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormal...	ORPHA:229717
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Brittle hair, Short stature	ORPHA:75389
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophili...	OMIM:304790
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Satoyoshi Syndrome	Short stature, Alopecia universalis, Alopecia	OMIM:600705
Menkes Disease	Alopecia, Intrauterine growth retardation, Brittle hair, Short stature, Sparse hair	OMIM:309400
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Failure to thrive, Short stature, Sparse hair, Fragile nails	OMIM:242150
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Alopecia, Depression, Hyperactivity, Short stature	OMIM:601853
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Aggressive behavior, Pili tor...	OMIM:261990
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Short stature, Alopecia, Delayed puberty	OMIM:612079
Alopecia Universalis	Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail	ORPHA:701
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia	OMIM:249270
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Stuve-Wiedemann Syndrome 2	Camptodactyly, Thrombocytopenia	OMIM:619751
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased body weight	OMIM:231000
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Osteopetrosis, Autosomal Recessive 8	Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia	OMIM:615085
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocy...	OMIM:226990
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Dyskeratosis Congenita, Digenic	Alopecia, Failure to thrive, Intrauterine growth retardation, Nail dystrophy, Sparse eyelashes, S...	OMIM:620040
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lipodystrophy, Thrombocytopenia, B lym...	OMIM:618048
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Short stature, Alopecia	ORPHA:88630
Specific Granule Deficiency 2	Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia...	OMIM:617475
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Thrombocytopenia, Anemia, Choreoathetosis	ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thro...	OMIM:169400
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy	OMIM:242300
Propionic Acidemia	Failure to thrive, Hypoglycemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia, Dystonia	OMIM:606054
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Failure to thrive, Exaggerated startle response	OMIM:618201
Congenital Toxoplasmosis	Anemia, Failure to thrive in infancy, Thrombocytopenia	ORPHA:858
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight loss, Thrombocytop...	ORPHA:507
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Thrombocytopeni...	OMIM:616050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Self-injurious behavior, Alopecia, Sparse eyebrow, Small nail, Large for gestational age, Hypopla...	ORPHA:544488
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Kury-Isidor Syndrome	Attention deficit hyperactivity disorder, Alopecia, Growth delay, Hypertrichosis	OMIM:619762
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Tremor, Thrombocytopenia, Dystonia, Athetosis	OMIM:617710
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair	ORPHA:1839
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ...	ORPHA:552
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Stiff-Person Syndrome	Anemia, Opisthotonus, Diabetes mellitus, Exaggerated startle response	OMIM:184850
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Failure to thrive, Onychogryposis of toenails, Fingernail...	ORPHA:2309
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Failure to thrive, Nail dystrophy, Sparse eyelashes, Woolly hair	OMIM:605676
Stiff Person Spectrum Disorder	Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus	OMIM:613845
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary...	ORPHA:251393
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia, Cachexia, Anorexia	OMIM:175500
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Immunodeficiency 98 With Autoinflammation, X-Linked	Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom...	OMIM:301078
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Aggressive behavior, Patchy alopecia	ORPHA:85279
Flynn-Aird Syndrome	Alopecia, Cachexia	ORPHA:2047
Wolfram Syndrome 1	Sideroblastic anemia, Tremor, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	OMIM:222300
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
X-Linked Agammaglobulinemia	Short stature, Alopecia, Weight loss, Failure to thrive	ORPHA:47
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Celiac Disease, Susceptibility To, 1	Alopecia, Depression, Failure to thrive, Postnatal growth retardation, Weight loss, Delayed puber...	OMIM:212750
Congenital Rubella Syndrome	Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia	ORPHA:290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia	OMIM:620365
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Alopecia, Moderate postnatal growth retardation, Intrauterine growth retard...	ORPHA:1005
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Gm2 Gangliosidosis, Ab Variant	Short stature, Postnatal growth retardation, Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, Neutropenia, An...	OMIM:614520
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Small nail, Abnormal hair morphology, Thin nail, Growth delay	OMIM:242100
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:101028
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Onycholysis	ORPHA:525
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Bresek Syndrome	Intrauterine growth retardation, Alopecia, Growth delay	ORPHA:85284
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Flexion contracture, Art...	ORPHA:85212
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Head titubation, Hypochromic microcytic anemia, Vestibular areflexia	ORPHA:3240
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co...	ORPHA:3226
Lig4 Syndrome	Failure to thrive, Pancytopenia, Type II diabetes mellitus, Thrombocytopenia, Acute lymphoblastic...	OMIM:606593
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy	ORPHA:100976
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Anemia, Flexion co...	OMIM:617591
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Monosomy 18P	Low posterior hairline, Alopecia, Short stature	ORPHA:1598
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Preeclampsia	Type I diabetes mellitus, Small for gestational age, Thrombocytopenia	ORPHA:275555
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H...	ORPHA:978
Rhabdoid Tumor	Anemia, Weight loss, Thrombocytopenia	ORPHA:69077
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Tremor, Opisthotonus, Thrombocytopenia, Neutropenia, Dystonia, Neonatal hypoglycemia,...	OMIM:616271
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Truncal obesity, Supernumerary nipple	ORPHA:3224
Keutel Syndrome	Short stature, Alopecia	ORPHA:85202
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Growth delay, Nail dystrophy, Nail dysplasia, Dysphagia	OMIM:226600
Hutchinson-Gilford Progeria Syndrome	Alopecia, Growth delay	OMIM:176670
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Inguinal hernia, Thrombocytopenia, Neutropenia, Normochromic anemia	OMIM:614857
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Short stature, Alopecia	OMIM:620651
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Alopecia, Fine hair	ORPHA:228390
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Short Syndrome	Severe short stature, Alopecia, Sparse hair, Weight loss	ORPHA:3163
Johanson-Blizzard Syndrome	Alopecia, Failure to thrive, Intrauterine growth retardation, Abnormal hair pattern, Short stature	ORPHA:2315
Adams-Oliver Syndrome 2	Alopecia, Small nail, Low anterior hairline	OMIM:614219
Smith-Kingsmore Syndrome	Thrombocytopenia, Large for gestational age, Hypoglycemia, Umbilical hernia	OMIM:616638
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Alopecia	ORPHA:453533
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Depression, Emotional lability, Hirsutism, Increased body weight, Abdominal obesity, Mania	ORPHA:189427
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Splenomeg...	OMIM:614700
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Intrauterine growth retardation, Absent eyelashes, Absent eyebrow, Short st...	ORPHA:166035
Macs Syndrome	Alopecia, Sparse eyebrow, Decreased body weight, Short stature, Sparse hair	OMIM:613075
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Camptodactyly, Thrombocytopenia, Anemi...	ORPHA:79325
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:614594
Mandibuloacral Dysplasia	Postnatal growth retardation, Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Pseudo-Torch Syndrome 1	Failure to thrive, Umbilical hernia, Splenomegaly, Thrombocytopenia, Dystonia	OMIM:251290
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Failure to thrive, Sparse eyelashes	OMIM:610768
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Omenn Syndrome	Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:251000
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Hyperekplexia 2	Hiatus hernia, Exaggerated startle response	OMIM:614619
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Growth delay, Failure to thrive, Irritability	OMIM:277440
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Delayed menarche, Alopecia, Dysphagia	ORPHA:412057
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Thrombocytopenia	ORPHA:263501
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia	OMIM:608104
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Felty Syndrome	Cellulitis, Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutrope...	ORPHA:47612
Satoyoshi Syndrome	Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes, Short stature	ORPHA:3130
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Failure to thrive, Thick eyebrow, Low frustration tolerance, Decreased body weight, Aggressive be...	OMIM:300534
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:251110
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, A...	ORPHA:974
Necrotizing Enterocolitis	Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia, Small f...	ORPHA:391673
Hyperekplexia 3	Hiatus hernia, Exaggerated startle response	OMIM:614618
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Exaggerated startle response	OMIM:149400
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystrophy, ...	OMIM:613990
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye...	OMIM:268400
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Low posterior hairline, Delayed puberty, Short stature, Small for gestational age	ORPHA:2959
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Nail dystrophy, Sparse eyelashes, Short stature, Gro...	OMIM:614008
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Smal...	OMIM:606003
Adrenoleukodystrophy	Attention deficit hyperactivity disorder, Alopecia	OMIM:300100
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Tremor, Schistocytosis, Thrombocytopenia	OMIM:274150
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Tremor, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Immunodeficiency 22	Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia,...	OMIM:615758
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:137940
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Severe postnatal growth retardation, Patchy alopec...	ORPHA:35173
Gapo Syndrome	Early balding, Alopecia, Sparse eyebrow, Sparse eyelashes, Short stature, Growth delay	ORPHA:2067
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Overlap Myositis	Leukopenia, Diabetes mellitus, Thrombocytopenia, Abnormality of connective tissue	ORPHA:206572
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia	ORPHA:210136
Wilson Disease	Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thrombocytopenia, Anemia	ORPHA:905
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:616881
Ane Syndrome	Short stature, Alopecia, Delayed puberty	ORPHA:157954
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Growth delay, Brittle hair	OMIM:608612
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive	ORPHA:169154
Sézary Syndrome	Alopecia, Nail dystrophy	ORPHA:3162
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Alopecia, Sparse hair	ORPHA:659
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Intrauterine growth retardation, Small for gestational age	OMIM:618775
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Abnormal dense gra...	OMIM:214500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Good Syndrome	Anemia, Diabetes mellitus, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
Prolidase Deficiency	Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia	OMIM:170100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Pancytopenia, Splenomegaly, Enamel hypoplasia, Thrombocytopenia	OMIM:614576
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158310
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ...	ORPHA:464
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Umbilical hernia, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Intrauterine growth retardation, Absent toenail, Absent...	ORPHA:158687
Giant Cell Arteritis	Depression, Alopecia, Weight loss, Anorexia	ORPHA:397
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le...	ORPHA:86839
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Braddock-Carey Syndrome 1	Camptodactyly, Enamel hypoplasia, Thrombocytopenia	OMIM:619980
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia, Hypoglycemia	OMIM:611126
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Decreased body weight, Thrombocytopenia, Anemia, Hypoplast...	OMIM:617053
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Decreased eosinophil count	ORPHA:2686
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Holocarboxylase Synthetase Deficiency	Alopecia, Irritability	OMIM:253270
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Leigh Syndrome	Alopecia, Failure to thrive, Hypertrichosis, Intrauterine growth retardation, Dysphagia, Frontal ...	ORPHA:506
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Failure to thrive, Sideroblastic anemia, Pancytopenia, Refractory sider...	OMIM:557000
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Nail dystrophy, Delayed puberty, Short stature	ORPHA:90154
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Obesity, Emotional lability, Hirsutism, Abdominal obesity	OMIM:219090
Cholesteryl Ester Storage Disease	Failure to thrive, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia,...	OMIM:278000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Inguinal hernia, Er...	OMIM:612541
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Exaggerated startle response	OMIM:609541
Griscelli Syndrome	Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia	ORPHA:381
Immunodeficiency 7	Patchy alopecia, Failure to thrive	OMIM:615387
Schimmelpenning-Feuerstein-Mims Syndrome	Short stature, Alopecia, Growth delay	OMIM:163200
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia	ORPHA:3453
Pediatric-Onset Graves Disease	Failure to thrive, Splenomegaly, Tremor, Thrombocytopenia, Neutropenia in presence of anti-neutro...	ORPHA:525731
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic anemia	OMIM:254900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane...	ORPHA:508542
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Autosomal Dominant Hypocalcemia	Alopecia, Depression, Abnormal fingernail morphology, Emotional lability, Abnormality of the nail	ORPHA:428
Wars2-Related Combined Oxidative Phosphorylation Defect	Athetosis, Limb dystonia, Tremor, Thrombocytopenia, Neonatal hypoglycemia	ORPHA:572798
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto...	ORPHA:79124
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Alopecia	ORPHA:93160
Dyskeratosis Congenita	Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnormal eyebrow...	ORPHA:1775
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcification of dental enamel, Hemo...	ORPHA:169090
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:259700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Intrauterine growth retardation, Sparse eyelashes, S...	OMIM:613451
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Sma...	OMIM:277380
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia	ORPHA:96181
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia	ORPHA:99901
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Thrombocytopenia, Exaggerated startle response, Dystonia	OMIM:620423
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Arthrogryposis multiplex congenita, Small for gestational age, Thrombocytopenia	OMIM:301056
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Short stature	ORPHA:90153
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia, Sma...	OMIM:242900
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Pancyto...	ORPHA:811
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia...	OMIM:260400
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Decreased proportion of...	ORPHA:1830
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Sparse hair, Nail pits	OMIM:127550
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Failure to thrive, Alopecia totalis, Nail dystrophy, Abnormality of the periungual region	ORPHA:293978
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple...	OMIM:230740
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Agitation	ORPHA:100924
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:600901
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, ...	OMIM:603553
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Hoyeraal-Hreidarsson Syndrome	Anemia, Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Irritability, Dysphagia, Hyperactivity, Motor stereotypy, Synophrys	ORPHA:447997
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia	ORPHA:1647
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Failure to thrive in infancy, Camptodactyly, Thrombocytopenia, Anemia	OMIM:611209
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Arthrogryposis multiplex congenita, Small for gestational age, Thrombocytopenia	OMIM:208085
Hepatoportal Sclerosis	Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:64743
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Rhizomelia, Failure to thrive, Postnatal growth retardation, Sparse eyelashes, Pa...	OMIM:302960
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:617864
Drug-Induced Lupus Erythematosus	Anemia, Thrombocytopenia	ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:267700
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy	OMIM:616393
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Patchy alopecia, Sparse hair	OMIM:617763
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive	OMIM:210210
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Opisthotonus, Thrombocytopenia, Anemia, ...	OMIM:608013
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Proportionate short stature, Abnorm...	ORPHA:2108
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Nail dystrophy	OMIM:240300
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Alopecia universalis, Patchy alopecia	OMIM:606367
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227650
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Flexion contrac...	OMIM:227645
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
H Syndrome	Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Delayed puberty, Short stature	ORPHA:168569
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Weiss-Kruszka Syndrome	Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures	ORPHA:502430
Mogs-Cdg	Long eyelashes, Alopecia, Fair hair, Hirsutism	ORPHA:79330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Failure to thrive, Nail dystrophy, Growth delay, Onychogryposis	ORPHA:79396
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Tremor, Exaggerated startle response	OMIM:620327
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Postnatal growth retardation, Growth delay, Sparse scalp hair, Onychogryposis	OMIM:248370
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Flexion contracture	OMIM:617303
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Cornelia De Lange Syndrome 6	Highly arched eyebrow, Sparse eyebrow, Intrauterine growth retardation, Frontal upsweep of hair, ...	OMIM:620568
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia	OMIM:615577
Aicardi-Goutieres Syndrome 1	Dystonia, Splenomegaly, Thrombocytopenia	OMIM:225750
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar...	OMIM:617301
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Inguinal hernia, Thrombocytopen...	OMIM:620654
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Attention deficit hyperactivity dis...	ORPHA:221008
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Hemolytic anemia	OMIM:308230
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia	OMIM:617718
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Rothmund-Thomson Syndrome	Sparse eyebrow, Small for gestational age, Small nail, Alopecia totalis, Sparse eyelashes, Nail d...	ORPHA:2909
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Short stature, Alopecia, Hirsutism	ORPHA:90795
Down Syndrome	Polycythemia, Umbilical hernia, Obesity, Type II diabetes mellitus, Acute megakaryocytic leukemia...	ORPHA:870
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:457077
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Decreased body weight, Thrombocytopenia, Neutropenia, Anemia, Small f...	ORPHA:90051
Alg12-Cdg	Failure to thrive, Recurrent hypoglycemia, Thrombocytopenia, B lymphocytopenia, Camptodactyly, Ab...	ORPHA:79324
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Failure to thrive, Splenomegaly, Hypoglycemia	OMIM:251880
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Depression, Head-banging, Bruxism, Emotional lability, Irri...	ORPHA:2388
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Neutral Lipid Storage Disease With Ichthyosis	Short stature, Alopecia	ORPHA:98907
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Noonan Syndrome 4	Large for gestational age, Thrombocytopenia	OMIM:610733
Juvenile Dermatomyositis	Alopecia, Weight loss, Dysphagia	ORPHA:93672
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Gaucher Disease Type 1	Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp...	ORPHA:77259
Porphyria, Congenital Erythropoietic	Alopecia, Hypertrichosis, Loss of eyelashes, Absent eyebrow, Short stature	OMIM:263700
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Avian Influenza	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:454836
Takenouchi-Kosaki Syndrome	Camptodactyly, Inguinal hernia, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Alopecia, Cachexia, Nail dystrophy	ORPHA:37042
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Failure to thrive, Premature graying of hair, Abnormal hair morpho...	ORPHA:79474
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Farber Disease	Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Anemia, Flexion contracture	ORPHA:333
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Bartsocas-Papas Syndrome 1	Alopecia, Small nail, Alopecia totalis, Intrauterine growth retardation, Absent eyelashes, Absent...	OMIM:263650
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair, Slender build, Postnatal growth retardation, Inappropriate laughter, Overfri...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair, Slender build, Postnatal growth retardation, Inappropriate laughter, Overfri...	ORPHA:363958
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Thrombocytopenia	ORPHA:457351
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Obesity, Thrombocytopenia	OMIM:620072
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc...	OMIM:259720
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Shigellosis	Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Sple...	ORPHA:810
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Failure to thrive in infancy, Camptodactyly, Thrombocytopenia	ORPHA:261323
Bcard Syndrome	Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 3rd finger, C...	OMIM:612394
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Failure to thrive, Neutropenia	OMIM:617941
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec...	ORPHA:244242
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:603467
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Camptodactyly of finger, Microcytic anemia, Elbow flexion contracture, Loss of...	OMIM:256040
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Failure to thrive, Nail dystrophy, Short stature, Sparse hair	ORPHA:158668
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Postural tremor, Splenomegaly, Truncal obesity, Thrombocytopenia, Limb joint contracture, Flexion...	OMIM:301072
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Tremor, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Small for gestati...	OMIM:277400
Lujo Hemorrhagic Fever	Resting tremor, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:319213
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Depression, Abnormal fingernail morphology, Hyperconvex fingernails, Failure to thrive ...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Depression, Abnormal fingernail morphology, Hyperconvex fingernails, Failure to thrive ...	ORPHA:99228
Monosomy X	Alopecia, Depression, Abnormal fingernail morphology, Hyperconvex fingernails, Failure to thrive ...	ORPHA:99226
Turner Syndrome	Alopecia, Depression, Abnormal fingernail morphology, Hyperconvex fingernails, Failure to thrive ...	ORPHA:881
Bacterial Toxic-Shock Syndrome	Cellulitis, Fasciitis, Increased circulating myelocyte count, Thrombocytopenia, Increased circula...	ORPHA:36234
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Gaucher Disease, Type Ii	Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia	OMIM:230900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Dystonia, Tremor, Thrombocytopenia	OMIM:612199
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:221016
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Dystonia, Failure to thrive, Exaggerated startle response	ORPHA:521426
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Lathosterolosis	Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphoc...	ORPHA:391487
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch...	OMIM:106260
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Alopecia, Small nail, Failure to thrive, Intrauterine growth retardation, Alopeci...	OMIM:264090
Dyskeratosis Congenita, X-Linked	Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail, Intrauterine growth retarda...	OMIM:305000
Alstrom Syndrome	Short stature, Alopecia, Obesity, Truncal obesity	OMIM:203800
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Neuroblastoma	Anemia, Weight loss, Thrombocytopenia	ORPHA:635
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Alopecia, Failure to thrive, Hypoplastic fingernail, Abnormal hair morpholo...	ORPHA:2273
Congenital Syphilis	Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:499009
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Castleman Disease	Anemia, Decreased mean corpuscular volume, Weight loss, Thrombocytopenia	ORPHA:160
Wilson Disease	Chondrocalcinosis, Glycosuria, Hand tremor, Limb dystonia, Splenomegaly, Tremor, Thrombocytopenia...	OMIM:277900
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair, Short stature	OMIM:311200
Linear Nevus Sebaceus Syndrome	Alopecia, Growth delay	ORPHA:2612
Systemic Sclerosis	Nail bed telangiectasia, Alopecia, Dysphagia	ORPHA:90291
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Alopecia, Mild intrauterine growth retardation, Small nail	OMIM:308050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia, Exaggerated startle response	OMIM:620451
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:363618
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227646
Monosomy 22Q13.3	Bruxism, Long eyelashes, Thick eyebrow, Obesity, Hypoplastic toenails, Hair-pulling, Hyperactivity	ORPHA:48652
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Multiple joint contractures, Tremor, Ch...	ORPHA:51
Biotinidase Deficiency	Alopecia	OMIM:253260
Xeroderma Pigmentosum	Short stature, Alopecia, Failure to thrive	ORPHA:910
Systemic Lupus Erythematosus	Depression, Alopecia, Weight loss, Anorexia	ORPHA:536
Neuroleptic Malignant Syndrome	Oculogyric crisis, Leukocytosis, Tremor, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Nail dysplasia, Hypoplastic nipples, Bil...	ORPHA:69085
Gm1 Gangliosidosis Type 1	Abnormal odontoid tissue morphology, Hepatosplenomegaly, Exaggerated startle response	ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Failure to thrive, Exaggerated startle response	OMIM:617527
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Failure to thrive, Nail dystrophy, Anonychia, Growth delay, Abnormality of the nail, Pa...	ORPHA:79404
Atelis Syndrome 2	Anemia, Hyperinsulinemia, Thrombocytopenia	OMIM:620185
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Leukopenia, Hernia, Thrombocytopenia, Anemia, Flexion contracture	ORPHA:505248
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Pearson Syndrome	Glycosuria, Pancytopenia, Reticulocytosis, Splenomegaly, Hypoplastic spleen, Neutropenia, Thrombo...	ORPHA:699
Autosomal Dominant Robinow Syndrome	Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dyspl...	ORPHA:3107
Sandhoff Disease	Hepatosplenomegaly, Exaggerated startle response	OMIM:268800
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Thrombocytopenia, Truncal obesity,...	OMIM:222700
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:300972
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Increased connect...	ORPHA:79277
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Intrauterine growth retardation, Alopecia, Abdominal obesity	OMIM:619321
Aicardi-Goutieres Syndrome 7	Pancytopenia, Splenomegaly, Weight loss, Thrombocytopenia, Anemia, Dystonia, Hemolytic anemia	OMIM:615846
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Bloom Syndrome	Intrauterine growth retardation, Sparse eyelashes, Severe postnatal growth retardation, Patchy al...	ORPHA:125
Autosomal Recessive Robinow Syndrome	Long eyelashes, Fingernail dysplasia, Alopecia, Disproportionate short-limb short stature	ORPHA:1507
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hypoglycemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	ORPHA:79282
Asparagine Synthetase Deficiency	Failure to thrive, Tremor, Exaggerated startle response	OMIM:615574
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Absence of subcutaneous fat, Thrombocyto...	OMIM:620005
Biotinidase Deficiency	Alopecia	ORPHA:79241
Orofaciodigital Syndrome Type 1	Alopecia, Sparse hair, Coarse hair, Brittle hair	ORPHA:2750
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ...	ORPHA:3260
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Q Fever	Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia	ORPHA:781
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Weight loss, Thrombocytopenia	ORPHA:36426
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia	ORPHA:536532
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia	ORPHA:90038
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Exaggerated startle response	OMIM:253800
Deeah Syndrome	Neonatal hypoglycemia, Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619004
Behcet Syndrome	Patchy alopecia, Irritability	OMIM:109650
Tick-Borne Encephalitis	Tremor, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Colchicine Poisoning	Alopecia	ORPHA:31824
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la...	ORPHA:353281
Steinert Myotonic Dystrophy	Alopecia, Depression, Oral-pharyngeal dysphagia, Emotional lability, Obsessive-compulsive trait, ...	ORPHA:273
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Throm...	OMIM:122470
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Paroxysmal Nocturnal Hemoglobinuria	Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyt...	ORPHA:447
Ogden Syndrome	Polycythemia, Umbilical hernia, Inguinal hernia, Iron deficiency anemia, Maternal diabetes, Throm...	OMIM:300855
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti...	OMIM:620330
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Failure to thrive, Microcytic anemia, Splenomegaly, Inguinal hernia, Th...	OMIM:619525
Chronic Graft Versus Host Disease	Alopecia, Nail dystrophy, Onycholysis, Weight loss, Anorexia, Dysphagia	ORPHA:99921
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Thrombocytopenia, Camptodactyly, Flexion contracture, Increased mean platelet vo...	ORPHA:487796
Jacobsen Syndrome	Flexion contracture, Failure to thrive, Thrombocytopenia	OMIM:147791
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Woodhouse-Sakati Syndrome	Alopecia, Sparse hair, Fine hair	OMIM:241080
Dermatomyositis	Alopecia, Weight loss, Abnormal hair quantity, Dysphagia, Abnormality of the nail	ORPHA:221
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Alopecia, Thin eyebrow, Intrauterine growth retardation, Loss of eyelashes,...	ORPHA:2636
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Alopecia, Subungual hyperkeratosis, Atrichia, Nail dystrophy, Absent eyelashes, Nail dysplasia, D...	OMIM:308205
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Brucellosis	Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Weight loss, Thrombocyt...	ORPHA:1304
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Kikuchi-Fujimoto Disease	Alopecia, Weight loss, Anorexia	ORPHA:50918
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Highly arched eyebrow, Trichiasis, Failure to thrive, Abnormal fear-indu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Highly arched eyebrow, Trichiasis, Failure to thrive, Abnormal fear-indu...	ORPHA:353277
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Diabetes mellitus, Thrombocytopenia, Leukocytosis	ORPHA:544482
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thromb...	OMIM:620376
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Scalp-Ear-Nipple Syndrome	Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha...	OMIM:181270
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia	ORPHA:2785
Woodhouse-Sakati Syndrome	Growth delay, Alopecia, Delayed puberty, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Tremor, Splenic rupture, Thrombocytop...	ORPHA:355
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Thrombocytopenia	ORPHA:464321
Leprosy	Loss of eyelashes, Alopecia, Absent eyebrow, Sparse body hair	ORPHA:548
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Fanconi Anemia	Umbilical hernia, Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine-responsive sidero...	ORPHA:84
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology...	ORPHA:534
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Failure to thrive, Umbilical hernia, Abnormal dental enamel morpholo...	ORPHA:567
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Alopecia totalis, Delayed menarche, Loss of eyelashes, Dystrophic fingernails...	ORPHA:740
Caroli Syndrome	Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:480520
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoglycemia, Lymphopenia, Abnormal lymphocyte morphology,...	ORPHA:99826
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Tangier Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:31150
Hemorrhagic Fever-Renal Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Decreased body weight	ORPHA:340
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Cachexia, Thrombocytop...	ORPHA:2072
Roberts Syndrome	Wrist flexion contracture, Progressive flexion contractures, Thrombocytopenia, Knee flexion contr...	ORPHA:3103
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:470
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia	ORPHA:163979
Jacobsen Syndrome	Inguinal hernia, Thrombocytopenia	ORPHA:2308
African Trypanosomiasis	Aggressive behavior, Alopecia, Weight loss, Irritability	ORPHA:3385
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Ring Chromosome 13 Syndrome	Alopecia, Growth delay	ORPHA:96176
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphology, Inguinal hernia, ...	ORPHA:666
Viss Syndrome	Alopecia, Failure to thrive, Hirsutism, Short stature, Dysphagia, Sparse scalp hair	OMIM:619472
Hardikar Syndrome	Failure to thrive, Umbilical hernia, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Thrombocyto...	OMIM:301068
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Relapsing Polychondritis	Alopecia	ORPHA:728
Liver Disease, Severe Congenital	Failure to thrive, Umbilical hernia, Leukopenia, Splenomegaly, Inguinal hernia, Lymphocytosis, Hy...	OMIM:619991
Sarcoidosis	Leukopenia, Increased T cell count, Eosinophilia, Weight loss, Scarring, Thrombocytopenia, Anemia...	ORPHA:797
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia	ORPHA:99827
Digeorge Syndrome	Umbilical hernia, Obesity, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Thrombocytope...	OMIM:188400
Pallister-Killian Syndrome	Sparse eyebrow, Alopecia, Rhizomelia, Supernumerary nipple, Sparse anterior scalp hair, Obesity, ...	OMIM:601803
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss, Thrombocytopenia	ORPHA:79078
Acute Liver Failure	Thrombocytopenia, Hypoglycemia	ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism	ORPHA:731
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy...	ORPHA:77293
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Dystonia, Uterine prolapse, Exaggerated startle response	ORPHA:438213
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Vascular Ehlers-Danlos Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair texture, Abnormal eyelash morpho...	ORPHA:286
Yellow Fever	Leukocytosis, Thrombocytopenia, Neutrophilia	ORPHA:99829
Weiss-Kruszka Syndrome	Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures	OMIM:618619
Noonan Syndrome 1	Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
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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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

X-ray

MicroCT E14.5-E15.5

X-ray

Eye Morphology

Eye Morphology

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

Gross Pathology and Tissue Collection

Human diseases caused by Zfp462 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data