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Gene: Acsl4 MGI:1354713

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Gene Summary

Name:
acyl-CoA synthetase long-chain family member 4
Synonyms:
Facl4,  9430020A05Rik,  Lacs4,  ACS4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating chloride level Acsl4tm1a(EUCOMM)Wtsi HET   Early adult 1.31×10-05
thrombocytopenia Acsl4tm1a(EUCOMM)Wtsi HET   Early adult 5.89×10-05
decreased body length Acsl4tm1a(EUCOMM)Wtsi HOM   Early adult 3.10×10-11
decreased body weight Acsl4tm1a(EUCOMM)Wtsi HEM   Early adult 1.14×10-05
decreased lean body mass Acsl4tm1a(EUCOMM)Wtsi HET   Early adult 1.45×10-05
abnormal tibia morphology Acsl4tm1a(EUCOMM)Wtsi HEM Early adult 4.20×10-05
preweaning lethality, incomplete penetrance Acsl4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased body length Acsl4tm1a(EUCOMM)Wtsi HET   Early adult 1.21×10-05

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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 Forepaw

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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Histopathology

Images

2 Images

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Legacy Phenotype Associated Images
Acsl4tm1a(EUCOMM)Wtsi
body, HEMI, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
head, HEMI, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
forearm, HEMI, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
head, HEMI, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
head, HEMI, Male, WTSI

View all 158 images

Acsl4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Acsl4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Acsl4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Acsl4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Acsl4tm1a(EUCOMM)Wtsi
corneal opacity, cornea/lens fusion, HET, Female, WTSI

Human diseases caused by Acsl4 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 Acsl4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Non-Syndromic Intellectual Disability
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Small for gestational age,... ORPHA:777
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal metaphysis morphology, Tapered finger ORPHA:86818
Intellectual Developmental Disorder, X-Linked 63
OMIM:300387

The table below shows human diseases predicted to be associated to Acsl4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Adenomyosis
Dysmenorrhea, Adenomyosis OMIM:600458
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Adrenocorticotropic hormone deficiency, Impotence, Abnormal prolactin le... ORPHA:91348
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hor... ORPHA:90301
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Hypergonadotropic hypogonadism, Primary amenorrhea, Polycystic ovar... ORPHA:90796
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Primary amenorrhea, Breast hypoplasia, Increased circulating gonadotrop... ORPHA:785
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Oligomenorrhea, Infertility ORPHA:280356
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Aromatase Deficiency
Ambiguous genitalia, female, Hyperlipidemia, Female infertility, Hypergonadotropic hypogonadism, ... ORPHA:91
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... ORPHA:2795
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Abnormal v... ORPHA:755
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Gonadal dysgenesis with female... ORPHA:168563
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea OMIM:158330
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... OMIM:615285
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Pri... OMIM:614841
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:613090
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... OMIM:612885
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hemorrhagic ... ORPHA:64739
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... ORPHA:99429
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Secondary amenorrhea, Decreased testicular size, Polycystic ovari... ORPHA:3085
Ovarian Fibrothecoma
Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit... ORPHA:314478
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:602522
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple renal cysts, Cervix cancer ORPHA:2869
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Hypertriglyceridemia, Polycystic ovaries ORPHA:435651
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Increased c... ORPHA:90793
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnorma... ORPHA:3130
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Rabson-Mendenhall Syndrome
Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume ORPHA:769
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Insulin-Resistance Syndrome Type B
Polycystic ovaries, Enlarged ovaries, Enlarged polycystic ovaries, Abnormal salivary gland morpho... ORPHA:2298
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Hypertriglyceridemia, Polycystic ovaries, Abnormal ... ORPHA:435660
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypoplasia of the ovary, Primary amenorrhea, Micropenis OMIM:618841
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism ORPHA:2745
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea OMIM:268020
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatomegaly ORPHA:79084
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Hypertriglyceridemia, Oligomenorrhea, Primary amenorrhea OMIM:604367
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ... OMIM:601678
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... ORPHA:89938
Leprechaunism
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... ORPHA:508
Congenital Generalized Lipodystrophy
Amenorrhea, Precocious puberty in females, Hepatomegaly, Oligomenorrhea, Hypertriglyceridemia, Cl... ORPHA:528
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... ORPHA:95699
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Secondary... ORPHA:243
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ... OMIM:241200
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... OMIM:600785
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Genu valgum, Short foot, Lower limb undergrowth, Obesity, Uln... ORPHA:314795
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Grant Syndrome
Tibial bowing, Down-sloping shoulders OMIM:138930
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Primary amenorrhea, Oligomenorrhea, Hypertriglyceridemi... ORPHA:79083
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Primary Lipodystrophy
Polycystic ovaries, Hyperlipidemia, Menometrorrhagia, Splenomegaly ORPHA:90970
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Precocious puberty, Decreased circulating cortisol level, Premature ... ORPHA:90795
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Hypertriglyceridemia, Secondary amenorrhea, Polycystic ... ORPHA:2348
Weismann-Netter Syndrome
Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared iliac bones OMIM:112350
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Bangstad Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology, Increased c... ORPHA:1227
Tibial Hemimelia
Absent tibia OMIM:275220
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal penis morphology, Irregular menstruation, Abnormality of the menstru... ORPHA:457059
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Preeclampsia
Polycystic ovaries ORPHA:275555
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Distal Monosomy 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Paradoxical increased cortisol secretion on dexamethasone suppression test, Primary... OMIM:610475
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypertriglyceridemia... ORPHA:66628
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ... OMIM:146255
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre... ORPHA:101028
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypertriglyceridemia... ORPHA:179494
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Luscan-Lumish Syndrome
Polycystic ovaries, Irregular menstruation OMIM:616831
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ... OMIM:603554
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Weight loss, Hypochloremia, Hyperkalemia ORPHA:90794
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the uterus, Go... ORPHA:201
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology ORPHA:100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Oligomenorrhea, Hypertriglyceri... ORPHA:370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Oligomenorrhea, Irregular menstruation, Hypertriglyceri... ORPHA:79240
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Gaucher Disease, Type Iii
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hyperammonemia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Bowi... OMIM:600081
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Sengers Syndrome
Thrombocytopenia OMIM:212350
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... OMIM:267700
Hydrocephalus With Associated Malformations
Lower limb undergrowth, Tibial bowing, Short lower limbs OMIM:236640
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Mccune-Albright Syndrome
Precocious puberty, Elevated circulating growth hormone concentration, Increased circulating cort... ORPHA:562
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Oligomenorrhea, Irregular menstruation, Hypertriglyceri... ORPHA:264580
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:168558
Lumbar Syndrome
Myelomeningocele, Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryp... ORPHA:83628
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... OMIM:614857
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:289548
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Failure to thrive in infancy ORPHA:858
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Micropenis, Hypergonadotropic hypogonadism, Hypogonadot... OMIM:241080
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocyt... ORPHA:229717
Gaucher Disease, Type Ii
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Incr... OMIM:618048
Donohue Syndrome
Ovarian cyst, Precocious puberty, Clitoral hypertrophy, Long penis OMIM:246200
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Tombstone-shaped proximal phalanges, Widened d... OMIM:108721
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutrop... OMIM:251110
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial ... OMIM:210720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Absent circulating B cells, Thrombocytopenia OMIM:619693
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Infertility, Impotence, Small pituitary gland, Streak o... ORPHA:2232
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropen... OMIM:251000
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutrop... OMIM:251100
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Elevated serum 1... OMIM:202010
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Brachydactyly, Short phalanx... ORPHA:1427
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Failure to thrive, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Met... OMIM:277380
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Decreased response to growth hormone stimulation test, ... ORPHA:3464
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... OMIM:603553
Propionic Acidemia
Failure to thrive, Hyperammonemia, Pancytopenia, Hyperglycinemia, Neutropenia, Anemia, Thrombocyt... OMIM:606054
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Weight loss, ... ORPHA:3226
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Metaphyseal irregularity, Subperiosteal bone resorption, Tibial bowing, Delaye... OMIM:264700
Lysosomal Acid Lipase Deficiency
Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Leu... OMIM:278000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Kniest Dysplasia
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Flared metaphysis, Genu varum, Flatten... OMIM:156550
Lig4 Syndrome
Failure to thrive, Thrombocytopenia, Pancytopenia OMIM:606593
Cowden Syndrome 6
Hydrocele testis, Varicocele, Ovarian cyst, Goiter OMIM:615109
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma ORPHA:454840
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Anemia, Neutropenia, Weight loss, Thrombocytopenia ORPHA:47
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... OMIM:185070
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio OMIM:150550
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Hypertriglyceridemia, Secondary amenorrhea, Polycystic ... ORPHA:280365
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N... OMIM:304790
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thromb... OMIM:608104
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Bowi... OMIM:241530
Cowden Syndrome 5
Hydrocele testis, Goiter, Ovarian cyst OMIM:615108
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Proteus Syndrome
Ovarian neoplasm, Splenomegaly, Testicular neoplasm, Long penis, Thymus hyperplasia, Renal cyst, ... ORPHA:744
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia, Failure to thrive in infancy OMIM:611209
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Holocarboxylase Synthetase Deficiency
Weight loss, Thrombocytopenia, Hyperammonemia ORPHA:79242
Cystic Echinococcosis
Abnormality of the testis size, Hepatomegaly, Ovarian cyst, Hepatic cysts, Renal cyst ORPHA:400
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Varicocele, Goiter, Ovarian carcinoma OMIM:158350
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Decreased fertility in females, Hypertriglyceridemia, Labial hypertro... OMIM:608594
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Decreased fertility in females, Hypertriglyceridemia, Labial hypertro... OMIM:269700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Metaphyseal irregularity, Subperiosteal bone resorption, Tibial bowing, Delaye... OMIM:277440
Carney Complex
Pituitary growth hormone cell adenoma, Decreased fertility in males, Ovarian cyst, Increased circ... ORPHA:1359
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia ORPHA:90060
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormality of fibula morphology, Bowing of the long bones, Lower l... ORPHA:3035
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Small for gestational age, Limb undergrowth, Broad long bones, Crumpled long bones OMIM:166210
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal... ORPHA:331206
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Griscelli Syndrome
Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, Abnormality of neutrophils, T... ORPHA:381
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Polycystic kidney dysplasia, Aplasia of the... ORPHA:2237
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Hepatomegaly ORPHA:79086
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas OMIM:175200
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Transaldolase Deficiency
Failure to thrive, Splenomegaly, Small for gestational age, Hepatosplenomegaly, Pancytopenia, Ane... OMIM:606003
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Alg8-Cdg
Failure to thrive, Small for gestational age, Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Infantile Systemic Hyalinosis
Polycystic ovaries, Steatorrhea ORPHA:2176
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Pancytopenia... OMIM:614576
Wilson Disease
Failure to thrive, Splenomegaly, Weight loss, Increased body weight, Anemia, Thrombocytopenia ORPHA:905
Fetal Gaucher Disease
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia ORPHA:85212
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Hypertriglyceridemia, Hypercholesterolemia, Polycystic ov... OMIM:151660
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... ORPHA:69085
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... ORPHA:99901
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarp... OMIM:108720
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Mirage Syndrome
Decreased body weight, Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombo... OMIM:617053
Mevalonic Aciduria
Failure to thrive, Elevated circulating C-reactive protein concentration, Leukocytosis, Fluctuati... OMIM:610377
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Unicornuate uterus, Urethral stenosis, Ap... OMIM:614527
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280