Gene Summary

zinc finger protein 462
Zfpip,  Gt4-2,  9430078C22Rik

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Zfp462em1(IMPC)Tcp HET Early adult 3.49×10-11
increased total body fat amount Zfp462em1(IMPC)Tcp HET Early adult 1.42×10-06
abnormal embryo size Zfp462em1(IMPC)Tcp HOM E15.5 0.00
preweaning lethality, complete penetrance Zfp462em1(IMPC)Tcp HOM   Early adult 0.00
decreased lean body mass Zfp462em1(IMPC)Tcp HET Early adult 1.60×10-10
edema Zfp462em1(IMPC)Tcp HOM E15.5 0.00
thrombocytopenia Zfp462em1(IMPC)Tcp HET Early adult 5.71×10-08
impaired glucose tolerance Zfp462em1(IMPC)Tcp HET Early adult 3.40×10-05

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

96 Images

Eye Morphology

Images Slit Lamp

96 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Zfp462 mutations

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

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Edema OMIM:614103
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
L-Ferritin Deficiency
Restless legs, Alopecia OMIM:615604
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Moynahan Syndrome
Sparse hair, Alopecia, Short stature, Cachexia ORPHA:2574
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed... OMIM:275400
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... ORPHA:2985
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Abnormality of the nail OMIM:302000
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Candidiasis, Familial, 1
Alopecia OMIM:114580
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair ORPHA:3363
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Kerion Celsi
Alopecia ORPHA:499
Lymphatic Malformation 2
Lymphedema OMIM:611944
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... ORPHA:2251
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... ORPHA:1882
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Erythrokeratodermia Variabilis
Alopecia, Short stature, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generali... ORPHA:317
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to thrive, Th... OMIM:229050
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:2850
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia OMIM:619302
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Alopecia, Severe short stature OMIM:203550
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia OMIM:615010
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive ORPHA:50812
Aicardi-Goutieres Syndrome 3
Dystonia, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Dystrophic to... ORPHA:2930
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obes... ORPHA:3077
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty OMIM:615704
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Congenital Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Short stature, Abnormality of the nail ORPHA:79394
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor OMIM:610539
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
White Sponge Nevus 2
Edema OMIM:615785
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Holocarboxylase Synthetase Deficiency
Alopecia, Anorexia, Weight loss, Growth delay, Irritability ORPHA:79242
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive OMIM:616353
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Alopecia, Severe short stature, Rhizomelia OMIM:215100
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Thrombocytopenia ORPHA:141184
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair ORPHA:177
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased body weight, Depression, Emotional lability, Hirsutism OMIM:615830
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79312
Wt Limb-Blood Syndrome
Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo... ORPHA:3051
Anemia, Thrombocytopenia ORPHA:673
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Paronychia, Weight l... ORPHA:37
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Alpha-Heavy Chain Disease
Growth delay, Alopecia ORPHA:100025
Type I diabetes mellitus, Small for gestational age, Thrombocytopenia ORPHA:275555
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Short stature, Growth delay, Nail dystrophy, Atrichia ORPHA:1867
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, Growth delay, Thin eyebrow ORPHA:3242
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Agitation OMIM:618840
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Aicardi-Goutieres Syndrome 4
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia OMIM:610333
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta OMIM:614727
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Choreoathetosis, Anemia, Dystonia, Thrombocytopenia ORPHA:289916
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair, Failure to thrive ORPHA:2316
Isolated Agammaglobulinemia
Abnormality of neutrophils, Thrombocytopenia, Cellulitis, Abnormal lymphocyte morphology, Failure... ORPHA:229717
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Aggressive behavior OMIM:247100
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation ORPHA:75389
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation OMIM:309400
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Alopecia, Short stature, Depression, Self-injurious behavior OMIM:601853
Satoyoshi Syndrome
Alopecia, Short stature, Alopecia universalis OMIM:600705
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Short stature, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia OMIM:615085
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Short stature, Delayed puberty OMIM:612079
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Lymphatic Malformation 10
Lymphedema OMIM:619369
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... OMIM:226990
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ... OMIM:261990
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, B lymphocytopenia, Failure to thrive, Decreased proportio... OMIM:618048
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Am... OMIM:617475
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Choreoathetosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:27
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Propionic Acidemia
Pancytopenia, Hypoglycemia, Neutropenia, Anemia, Dystonia, Failure to thrive, Thrombocytopenia OMIM:606054
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Dysphagia, Intrauterine growth retarda... OMIM:620040
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Short stature ORPHA:88630
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... ORPHA:507
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... OMIM:616050
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Increased body... ORPHA:2298
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Tremor, Thrombocytopenia OMIM:222300
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Hypomelanosis Of Ito
Alopecia OMIM:300337
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Tremor, Athetosis, Dystonia, Thrombocytopenia OMIM:617710
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:613845
Kury-Isidor Syndrome
Growth delay, Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis OMIM:619762
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... ORPHA:544488
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... OMIM:301078
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... ORPHA:2309
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Flynn-Aird Syndrome
Alopecia, Cachexia ORPHA:2047
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Nail dystrophy, Nail dysplasia OMIM:175500
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus OMIM:184850
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus ORPHA:290
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Postnatal growth retardation, Weight loss, Depression, Delayed puberty, ... OMIM:212750
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Short stature, Aggressive behavior ORPHA:85279
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... ORPHA:1005
X-Linked Agammaglobulinemia
Alopecia, Failure to thrive, Short stature, Weight loss ORPHA:47
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Gm2 Gangliosidosis, Ab Variant
Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavior, Short stature ORPHA:309246
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... OMIM:614520
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia ORPHA:3240
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail OMIM:242100
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Failure to thrive, Thrombocytopenia ORPHA:370924
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... OMIM:129400
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip... ORPHA:85212
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Bresek Syndrome
Growth delay, Intrauterine growth retardation, Alopecia ORPHA:85284
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Rhabdoid Tumor
Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Panniculitis, Failure to t... OMIM:617591
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Lig4 Syndrome
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,... OMIM:606593
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
3-Methylglutaconic Aciduria, Type Viib
Dystonia, Neonatal hypoglycemia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Leuk... OMIM:616271
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br... OMIM:308300
Monosomy 18P
Alopecia, Short stature, Low posterior hairline ORPHA:1598
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614857
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Alopecia, Fine hair ORPHA:228390
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... ORPHA:391673
Short Syndrome
Sparse hair, Alopecia, Severe short stature, Weight loss ORPHA:3163
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age OMIM:616638
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Growth delay, Nail dystrophy, Nail dysplasia, Dysphagia OMIM:226600
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Johanson-Blizzard Syndrome
Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth retardation, Failure to thrive ORPHA:2315
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Keutel Syndrome
Alopecia, Short stature ORPHA:85202
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Nail dysplasia, Intr... OMIM:613990
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Hutchinson-Gilford Progeria Syndrome
Growth delay, Alopecia OMIM:176670
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased body weight, Depression, Abdominal obesity, Emotional lability, Mania, Hirsutism ORPHA:189427
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptodactyly, Failure... ORPHA:79325
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:619644
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Small nail, Intrauterine growth retard... ORPHA:166035
Macs Syndrome
Alopecia, Short stature, Sparse eyebrow, Decreased body weight, Sparse hair OMIM:613075
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Postnatal growth retardation, Hypoplastic fingernail ORPHA:2457
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes OMIM:610768
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Sengers Syndrome
Thrombocytopenia OMIM:212350
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Omenn Syndrome
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia, Dysphagia ORPHA:412057
Felty Syndrome
Splenomegaly, Cellulitis, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Throm... ORPHA:47612
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Pseudo-Torch Syndrome 1
Splenomegaly, Dystonia, Umbilical hernia, Failure to thrive, Thrombocytopenia OMIM:251290
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Irritability, Failure to thrive, Alopecia universalis OMIM:277440
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis ORPHA:3130
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Failure to thrive, Anemia, Camptodactyly OMIM:608104
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl... ORPHA:974
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Patchy alopecia, Low frustration... OMIM:300534
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr... OMIM:606003
Immunodeficiency 22
Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to thrive, Thr... OMIM:615758
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Small for gestation... OMIM:268400
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Small for gestational age, Short stature, Low posterior hairline, Delayed puberty ORPHA:2959
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Overlap Myositis
Leukopenia, Diabetes mellitus, Abnormality of connective tissue, Thrombocytopenia ORPHA:206572
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Alopecia, Attention deficit hyperactivity disorder OMIM:300100
Wilson Disease
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia ORPHA:905
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Tremor, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes OMIM:137940
Gapo Syndrome
Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Growth delay ORPHA:2067
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Tremor, Thrombocytopenia, Splenomegaly, Neutropenia, L... OMIM:214500
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ... OMIM:614008
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Growth delay OMIM:608612
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Enamel hypoplasia, Failure to thrive, Thrombocytopenia OMIM:614576
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Small for gestational age, Alopecia totalis OMIM:618775
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Ane Syndrome
Alopecia, Short stature, Delayed puberty ORPHA:157954
Sézary Syndrome
Alopecia, Nail dystrophy ORPHA:3162
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response, Failure to thrive OMIM:616881
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive ORPHA:169154
Braddock-Carey Syndrome 1
Enamel hypoplasia, Thrombocytopenia, Camptodactyly OMIM:619980
Cyclic Neutropenia
Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia ORPHA:2686
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... ORPHA:2232
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty ORPHA:90154
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia OMIM:253270
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia ORPHA:169105
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Giant Cell Arteritis
Depression, Alopecia, Anorexia, Weight loss ORPHA:397
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... ORPHA:158687
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:613989
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp... ORPHA:464
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Mirage Syndrome
Hypoglycemia, Anemia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopenia, Thrombo... OMIM:617053
Leigh Syndrome
Alopecia, Growth delay, Dysphagia, Intrauterine growth retardation, Frontal hirsutism, Failure to... ORPHA:506
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Erythroid hypoplasia, Thromboc... OMIM:612541
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Alopecia, Short stature OMIM:163200
Pediatric-Onset Graves Disease
Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Th... ORPHA:525731
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia OMIM:170100
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Thrombocytopenia, Athetosis, Limb dystonia, Neonatal hypoglycemia ORPHA:572798
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... ORPHA:169090
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Hemochromatosis, Type 1
Alopecia OMIM:235200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia, Failure to th... OMIM:277380
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly... ORPHA:508542
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... ORPHA:79124
Alstrom Syndrome
Truncal obesity, Alopecia, Short stature OMIM:203800
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Depression, Emotional lability, Abnormality of the nail ORPHA:428
Immunodeficiency 7
Failure to thrive, Patchy alopecia OMIM:615387
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia ORPHA:96181
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Normochromic anemia, Intention tremor, Thrombocytopenia, Action tremor OMIM:254900
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature ORPHA:93160
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop... OMIM:242900
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... OMIM:260400
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic h