Gene Summary

Name:
BICD family like cargo adaptor 1
Synonyms:
Ccdc64,  BICDR-1,  2210403N09Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
unresponsive to tactile stimuli Bicdl1tm2b(EUCOMM)Wtsi HOM E18.5 0.00
decreased vertical activity Bicdl1tm2b(EUCOMM)Wtsi HOM   Early adult 2.43×10-06
preweaning lethality, incomplete penetrance Bicdl1tm2b(EUCOMM)Wtsi HOM   Early adult 0.00
unresponsive to tactile stimuli Bicdl1tm2b(EUCOMM)Wtsi HET E18.5 0.00
cardiovascular system phenotype Bicdl1tm2b(EUCOMM)Wtsi HET Early adult 2.61×10-05
abnormal spleen morphology Bicdl1tm2b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged spleen Bicdl1tm2b(EUCOMM)Wtsi HOM Early adult 0.00
increased heart rate variability Bicdl1tm2b(EUCOMM)Wtsi HET Early adult 9.31×10-05
short tibia Bicdl1tm2b(EUCOMM)Wtsi HOM Early adult 1.74×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.58% (3 of 515)
aorta 0.19% (1 of 518)
bone 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 5.57% (19 of 341)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
esophagus 1.9% (7 of 368)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 499)
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
mesenteric lymph node 0.36% (1 of 277)
olfactory lobe 0.39% (2 of 519)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 521)
peyers patch 0.0%
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
skeletal muscle 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
striatum 0.58% (3 of 521)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
trachea 0.58% (3 of 520)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 528)
vas deferens 4.65% (16 of 344)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 0.0%
axial skeleton 0.0%
brain 1.05% (3 of 285)
central nervous system ganglion 0.0%
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.33% (1 of 303)
embryo 0.0%
external ear 2.13% (1 of 47)
eye 0.33% (1 of 304)
femur pre-cartilage condensation 0.0%
footplate 0.0%
forearm 0.58% (1 of 172)
forebrain 0.34% (1 of 297)
forelimb 0.0%
fronto-nasal process 0.0%
gut 0.0%
handplate 0.0%
head 1.04% (3 of 289)
head mesenchyme 0.0%
heart 0.0%
heart ventricle 0.0%
hindbrain 2.01% (6 of 299)
hindlimb 0.0%
humerus pre-cartilage condensation 2.17% (1 of 46)
inner ear 2.5% (1 of 40)
intestine 3.03% (1 of 33)
liver 0.33% (1 of 306)
lower leg 0.54% (1 of 184)
lung 0.34% (1 of 296)
mandibular process 0.0%
maxillary process 0.33% (1 of 301)
mesonephros of female 0.0%
mesonephros of male 3.23% (1 of 31)
metanephros 0.0%
midbrain 0.0%
nasal septum 0.0%
nose 0.0%
notochord 0.0%
oral cavity 0.0%
outflow tract 0.0%
pancreas 0.0%
pericardium 0.0%
pharynx 0.0%
radius-ulna pre cartilage condensation 0.0%
rib pre-cartilage condensation 3.03% (1 of 33)
skeleton 2.38% (1 of 42)
skin 0.0%
spinal cord 2.27% (1 of 44)
stomach 0.0%
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation 3.12% (1 of 32)
tongue 3.23% (1 of 31)
trachea 3.03% (1 of 33)
trunk mesenchyme 2.78% (1 of 36)
umbilical artery embryonic part 2.86% (1 of 35)
umbilical vein embryonic part 2.56% (1 of 39)
upper arm 0.0%
upper leg 0.0%
urinary system 2.94% (1 of 34)
vibrissa 2.22% (1 of 45)

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

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

MicroCT E18.5

Embryo reconstruction

9 Images

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Bicdl1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bicdl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acromesomelic Dysplasia 2A
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Bowing of the lon... ORPHA:1802
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... OMIM:601376
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Talipes equinovarus, Splenomegaly, Gait ataxia, Hepatic fibrosis OMIM:616719
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Hepatomegaly, Splenomegaly ORPHA:417
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
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
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
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Narrow greate... OMIM:602557
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... ORPHA:1505
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morp... ORPHA:2585
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... OMIM:227270
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Narrow greater sciatic notch, Splenomegaly, Short femoral neck, Rhizomelia, Proximal f... OMIM:602271
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Sandhoff Disease
Ataxia, Hepatomegaly, Splenomegaly ORPHA:796
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... OMIM:615631
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Anemia, Thrombocytopenia, H... OMIM:610539
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Slc35A2-Cdg
Inability to walk, Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the ex... ORPHA:356961
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Dysplastic Cortical Hyperostosis
Limb undergrowth, Hepatomegaly, Abnormality of limb bone morphology, Splenomegaly ORPHA:2204
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reticulocytosis OMIM:612126
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Micrognathia, Abnormality of fibula morphology, Abnor... ORPHA:3035
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Tibial Hemimelia
Absent tibia OMIM:275220
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Ataxia, Splenomegaly, Spontaneous hemolytic cris... OMIM:613470
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Lethargy, Splenomegaly OMIM:602390
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Hyperextensibility of the finger joints, Limitation of knee mobility,... OMIM:228000
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Preaxial polydacty... OMIM:617925
Adams-Oliver Syndrome 6
Splenomegaly, Brachydactyly, Syndactyly, Hepatic fibrosis, Portal hypertension, Foot oligodactyly OMIM:616589
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Micrognathia, Sandal gap, Anemia, Ascites ORPHA:1046
Roifman Syndrome
Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Eosinophilia, Brachydactyl... OMIM:616651
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand ... OMIM:263520
Free Sialic Acid Storage Disease
Ataxia, Hepatomegaly, Splenomegaly, Athetosis, Gait disturbance, Abnormal foot morphology, Ascites ORPHA:834
Mevalonic Aciduria
Ataxia, Splenomegaly ORPHA:29
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia,... ORPHA:79312
Immunodeficiency 32B
Splenomegaly OMIM:226990
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Hepatomegaly, Tal... OMIM:618641
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... OMIM:616828
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Splenomegaly, Short ribs, Brach... OMIM:615630
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Opsismodysplasia
Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Hypoplastic pubic bone, Brachydactyly, ... ORPHA:2746
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Neonatal death, Pancytopenia, Thrombocytop... ORPHA:85212
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Classic Hodgkin Lymphoma
Ataxia, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Griscelli Syndrome
Ataxia, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hep... ORPHA:381
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Boomerang Dysplasia
Neonatal death, Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Dysmetria, Splenomegaly, Epiphyseal stippling, Bone-marrow ... OMIM:256550
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Splenomegaly, Athetosis, Microcytic anem... OMIM:257200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... OMIM:617394
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Syndactyly, Schistocyt... OMIM:224120
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Omenn Syndrome
Short toe, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology... ORPHA:39041
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Lymphangioma, Splenomegaly, Fractures of the long bones, Abnorma... ORPHA:464329
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Polycys... OMIM:208500
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Fibrochondrogenesis 1
Short palm, Stillbirth, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs,... OMIM:228520
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Hypoplastic vertebral bodies, Hepatomegaly, Ataxia, Splenomegaly, Limb un... OMIM:230600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Hip dysplasia, Abnorm... ORPHA:198
Wolman Disease
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Gaucher Disease, Type I
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Pancytopenia, Anemia, Throm... OMIM:230800
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepatitis, Difficulty w... ORPHA:905
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation OMIM:613027
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Camurati-Engelmann Disease
Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... ORPHA:1328
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Enlarged kidney, Hepatic cysts, ... OMIM:263200
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Hereditary Spherocytosis
Cholelithiasis, Ataxia, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, ... ORPHA:822
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... ORPHA:131
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... OMIM:607765
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Ataxia, Hepatomegaly, Splenomegaly, Gait ataxia, Prolonged neonatal jaund... OMIM:257220
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Camptoda... OMIM:602782
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Sarcoidosis, Susceptibility To, 2
Clubbing, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Mucopolysaccharidosis Type 7
Splenomegaly, Abnormal hip bone morphology, Hepatitis, Diaphyseal thickening, Metatarsus adductus... ORPHA:584
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Multiple Sulfatase Deficiency
Ataxia, Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Broad hallux, Broad thumb OMIM:272200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Splenomegaly, Syndactyly, Brachydactyly, Hypersplenism OMIM:616028
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Chediak-Higashi Syndrome
Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impair... OMIM:214500
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short toe, Hepatomegaly, Periportal fibrosis, Splenomegaly, Short ribs, Bowin... OMIM:269860
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Ankle clonus, Scleros... OMIM:308230
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... OMIM:603903
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... ORPHA:77259
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Bradykinesia, Splenomegaly, Polycythemia, Dysdiadochokinesi... ORPHA:309854
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Finger swelling, Anemia, Lymphadenopathy OMIM:617591
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Lower limb asymmetry, Splenomegaly OMIM:612918
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Pes cavus, Pancytopenia, Cardiomegaly OMIM:231005
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenom... ORPHA:158048
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233710
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... ORPHA:567983
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hepatomegaly, Short ribs, Short humerus, Brachydactyly... OMIM:218330
Hereditary Orotic Aciduria
Anemia, Hip dysplasia, Splenomegaly ORPHA:30
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233690
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Micrognathia, Hepatospleno... ORPHA:731
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... ORPHA:2753
Charge Syndrome
Absent tibia, Lymphopenia, Bilateral talipes equinovarus, Micrognathia, Down-sloping shoulders, S... OMIM:214800
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Hepatomegaly, Short ribs, Splenomegaly, Postaxial polydactyly, Cone-shaped epiph... OMIM:617088

Histopathology

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

There is no histopathology data for Bicdl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bicdl1.

No publications found that use IMPC mice or data for Bicdl1.

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MGI Allele Allele Type Produced
Bicdl1tm2e(EUCOMM)Wtsi