Gene Summary

Name:
excision repair cross-complementing rodent repair deficiency, complementation group 5
Synonyms:
Xpg

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
increased mean corpuscular hemoglobin Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
decreased hematocrit Ercc5tm2b(EUCOMM)Hmgu HET Early adult 1.87×10-24
preweaning lethality, complete penetrance Ercc5tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased fasting circulating glucose level Ercc5tm2b(EUCOMM)Hmgu HET Early adult 8.03×10-05
thrombocytosis Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
decreased erythrocyte cell number Ercc5tm2b(EUCOMM)Hmgu HET Early adult 1.41×10-38
increased mean corpuscular hemoglobin concentration Ercc5tm2b(EUCOMM)Hmgu HET Early adult 2.74×10-36

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
Kidney  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem 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 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract 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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin 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)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 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 Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 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 100% (2 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 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote 100% (2 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 Ambiguous
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 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 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 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 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left fundus

16 Images

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Ercc5 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 Ercc5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Intrauterine growth retardation OMIM:616570
Xeroderma Pigmentosum
Thin skin, Short stature ORPHA:910
Cofs Syndrome
Intrauterine growth retardation, Short stature ORPHA:1466
Xeroderma Pigmentosum, Complementation Group G
Growth delay OMIM:278780
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature ORPHA:220295

The table below shows human diseases predicted to be associated to Ercc5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocythemia 3
Thrombocytosis OMIM:614521
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Lymphadenopathy, Growth delay, Hepatomegaly, Abnormal small intestine morp... ORPHA:100025
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... ORPHA:3032
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly OMIM:604416
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Diarrhea, Short stature, Fat malabsorption, Hepatocellular carc... OMIM:601847
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay, Absence of intrinsic factor OMIM:243320
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... OMIM:619079
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:618858
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea OMIM:613291
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea OMIM:251850
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Chronic diarrhea, Malabsorption, Nausea, Abnormal small intestinal mucosa morphology, D... ORPHA:103907
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Pruritus, Periportal fibrosis, Hyp... ORPHA:64743
Carcinoma Of Esophagus
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Lymphadenopathy, Dys... ORPHA:70482
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... ORPHA:79301
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c OMIM:610582
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Fat malabsorption, Elevated hepatic transaminase, Biliary tract abnorma... ORPHA:79168
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea, Exocrine pa... ORPHA:309108
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Diarrhea, Short stature, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Pr... OMIM:211600
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:606176
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Jejunal Atresia
Jejunal atresia OMIM:243600
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix, Splenomegaly OMIM:613490
Atresia Of Small Intestine
Vomiting, Jejunal atresia, Short stature, Intestinal malrotation, Intestinal hypoplasia, Intraute... ORPHA:1201
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy OMIM:615863
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Projectile vom... OMIM:615237
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Heme Oxygenase 1 Deficiency
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis OMIM:614034
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... OMIM:607765
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy, Intractable diarrhea OMIM:613217
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Diarrhea, Malabsorpt... OMIM:615710
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,... OMIM:602347
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic fibrosis, Vomiting, Cirrhosis, Diarrhea, Villous atrophy, Hepatic failu... OMIM:602579
Cholestasis-Lymphedema Syndrome
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestat... OMIM:214900
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... OMIM:619350
Feingold Syndrome 2
Intestinal atresia, Short stature, Postnatal growth retardation OMIM:614326
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mpi-Cdg
Hepatic fibrosis, Vomiting, Diarrhea, Gastrointestinal hemorrhage, Hepatomegaly, Decreased liver ... ORPHA:79319
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Pyloric stenosis, Abnormal intestine morpho... ORPHA:2978
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis OMIM:237800
Eosinophilic Gastroenteritis
Anemia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea... ORPHA:2070
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Fat mala... ORPHA:79302
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Serrated Polyposis Syndrome
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Neoplasm of the large inte... ORPHA:157798
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Delayed puberty, Postnatal growth retardation OMIM:618985
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hypercholanemia, Familial 1
Fat malabsorption, Pruritus, Steatorrhea OMIM:607748
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... OMIM:601346
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Anemia, Thrombocytosis OMIM:226300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Congenital Tufting Enteropathy
Elevated fecal osmolality, Vomiting, Abnormal large intestinal mucosa morphology, Villous atrophy... ORPHA:92050
Diarrhea 12, With Microvillus Atrophy
Vomiting, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Microvillar PAS-positive s... OMIM:619445
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea OMIM:277175
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Pyloric stenosis, Increased mean platelet volume,... OMIM:300048
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Beta-Thalassemia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:848
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Short stature, Skin ra... OMIM:616050
Refractory Celiac Disease
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... ORPHA:398063
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption, Cholestatic liver disease, Portal hypertension ORPHA:83620
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Immunodeficiency 31C
Recurrent vulvovaginal candidiasis, Diarrhea, Villous atrophy, Chronic oral candidiasis, Intussus... OMIM:614162
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... ORPHA:234
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Interface hepatitis, L... OMIM:243150
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Thrombocytosis, Lymphopenia OMIM:615934
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Cirrhosis, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Hepatomegaly, ... OMIM:614602
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Elevated hepatic tran... ORPHA:79303
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Short stature, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eosinop... OMIM:618999
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Thrombocytosis, Leukocytosis ORPHA:134
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly, Postnatal growth... OMIM:232700
Chylomicron Retention Disease
Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Hepatic steato... ORPHA:71
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... OMIM:300835
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Hepatomegaly ORPHA:1759
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Budd-Chiari Syndrome
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Cholecystitis, Intestinal obst... ORPHA:131
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... OMIM:214950
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Thrombocytosis, Leukocytosis ORPHA:20
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... ORPHA:44890
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Type I diabetes mellitus, Thrombocytosis, Macrocytic anemia OMIM:212750
Ornithine Transcarbamylase Deficiency
Hepatic failure, Pyloric stenosis, Splenomegaly ORPHA:664
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... ORPHA:263665
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Vomiting, Diarrhea, Thrombocytopenia, Cholestasis, Hepatomegaly, Decreased liver function... OMIM:608104
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia OMIM:616744
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Poems Syndrome
Thrombocytosis, Diabetes mellitus, Polycythemia ORPHA:2905
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Alg6-Cdg
Jaundice, Protein-losing enteropathy, Abnormality of the liver, Macroglossia ORPHA:79320
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Achalasia, Short stature, Neutropenia in presence of anti-neutropil antibodies, Eczema, Hepatospl... OMIM:615952
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... ORPHA:2494
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia, Abnormality of mesentery morphology, Abdominal ... ORPHA:1198
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Alg1-Cdg
Decreased liver function, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, ... ORPHA:79327
Intrinsic Factor Deficiency
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... OMIM:261000
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Pruritus, Periportal fibrosis, Fat malabsorption, Jaundice, Eleva... ORPHA:30391
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Vomiting, Chronic diarrhea, T lymphocytopenia, Villous atrophy... OMIM:619510
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology, Diarrhea, Dysphagia ORPHA:1332
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Intrauterine growth retard... OMIM:615190
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis OMIM:300367
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Biliary tract abnormality, Protracted diarrhea, Viral hepatitis, ... OMIM:209920
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thro... OMIM:615688
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Glossitis, Xerostomia, Ham... OMIM:175500
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:612653
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Hepatic fibrosis, Microvesicular hepatic steatosis, Pruritus, Villous ... OMIM:619377
Mednik Syndrome
Hepatic fibrosis, Cirrhosis, Jejunal atresia, Diarrhea, Volvulus, Microcolon, Cholestasis, Growth... OMIM:609313
Hepatocellular Carcinoma
Anemia, Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Thrombocytopenia ORPHA:88673
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... OMIM:301074
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea ORPHA:103910
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Erythroderma, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Eczema, Autoi... OMIM:304790
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Chronic Granulomatous Disease
Malabsorption, Liver abscess, Pyloric stenosis, Eczema, Abnormality of neutrophils, Tracheoesopha... ORPHA:379
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Short stature, Acute leukemia ORPHA:281090
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Skin rash, Jaundice, Xero... ORPHA:779
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Int... ORPHA:1876
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Microvillus Inclusion Disease
Pruritus, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,... OMIM:112200
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Villous atrophy, Jaundice, Ele... ORPHA:567983
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Diamond-Blackfan Anemia 1
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... OMIM:105650
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Mednik Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:171851
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Elevated ... ORPHA:101330
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Hardikar Syndrome
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... OMIM:301068
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Chronic diarrhea, Chronic oral candidiasis, Villous atrophy, T lymphocyt... OMIM:606367
Bronchogenic Cyst
Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:182900
Proprotein Convertase 1/3 Deficiency
Malabsorption, Diarrhea, Villous atrophy OMIM:600955
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Oculoskeletodental Syndrome
Short stature, Macroglossia, Hepatomegaly, Protein-losing enteropathy, Splenomegaly OMIM:618440
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... ORPHA:231222
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Dysphagia ORPHA:89844
Visceral Myopathy 1
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Microcolon, Pancreatitis, Constipation, ... OMIM:155310
Primary Intestinal Lymphangiectasia
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... ORPHA:90362
Mungan Syndrome
Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Gastroparesis OMIM:611376
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
Irida Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:209981
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphang... ORPHA:1655
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... ORPHA:436252
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, Prot... ORPHA:731
Dextrocardia
Pancreatic hypoplasia, Webbed neck, Abnormality of abdominal situs, Intestinal malrotation, Mecke... ORPHA:1666
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Atrophic gastritis, Chronic diarrhea, Villous atrophy, Erythema nodosum, B l... OMIM:614700
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Splenomegaly OMIM:222470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, High palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic ly... OMIM:235255
Cog8-Cdg
Protein-losing enteropathy, Elevated hepatic transaminase ORPHA:95428
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Recurrent skin infections, Abnormal lar... ORPHA:90291
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... ORPHA:210122
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Netherton Syndrome
Hypereosinophilia, Villous atrophy, Abnormal intestine morphology, Erythroderma, Intestinal atresia OMIM:256500
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Juvenile Polyposis Of Infancy
Rectal prolapse, Anemia, Diarrhea, Short stature, High, narrow palate, Intussusception, Intestina... ORPHA:79076
Mirage Syndrome
Gastroesophageal reflux, Leukopenia, Esophageal stricture, Achalasia, Anemia, Short stature, Lymp... OMIM:617053
Scleroderma
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intes... ORPHA:801
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Cat Eye Syndrome
Biliary atresia, Rectal fistula, Short stature, Volvulus, Anal atresia, Intestinal malrotation, M... OMIM:115470
Brucellosis
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly ORPHA:1304
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Anemia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenosis, Annular pancre... ORPHA:2470
Trichothiodystrophy 3, Photosensitive
Short stature, Pyloric stenosis, Lymphopenia, Meckel diverticulum, Neutropenia, Intrauterine grow... OMIM:616395
Metachromatic Leukodystrophy
Intussusception, Abnormal duodenum morphology, Abnormal stomach morphology, Bowel incontinence, N... ORPHA:512
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus, Short stature ORPHA:3004
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Diarrhea, Villous atrophy, Inflammatory abnormality of the skin, Hepatitis, Short ... ORPHA:391487
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... ORPHA:2538
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... ORPHA:2929
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Immunodeficiency 17
Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell morphology, Decreased proportion of ... OMIM:615607
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Anemia, Villous atrophy, Reticulocytopenia, Malabsorption, Refractory ... OMIM:557000
Abcd Syndrome
Polycythemia OMIM:600501
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Mild postnatal growth retardation, Delayed puberty, Hepatomeg... ORPHA:456312
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Hyperinsulinemic hypoglycem... ORPHA:2968
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevated hepatic trans... ORPHA:811
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Gracile Bone Dysplasia
Ankyloglossia, Hypoplastic spleen, Short stature, Asplenia OMIM:602361
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Mild postnatal growth retard... OMIM:235510
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia, High palate, Webbed neck, Intestinal malrotation, Cleft pala... ORPHA:99776
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Congenital Disorder Of Glycosylation, Type Id
Vomiting, High palate, Diarrhea, Villous atrophy, Bifid uvula OMIM:601110
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepat... OMIM:619573
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, H... ORPHA:699
Diaphanospondylodysostosis
Abnormal liver lobulation, Webbed neck, Cleft palate, Disproportionate short-trunk short stature,... OMIM:608022
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Duodenal Atresia
Duodenal atresia OMIM:223400
Zygomycosis
Diarrhea, Gastritis, Colitis, Hematemesis, Splenic abscess, Unusual gastrointestinal infection, E... ORPHA:73263
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Scedosporiosis
Abnormal jejunum morphology, Unusual skin infection ORPHA:449280
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyperglycemia, Thrombocytopenia, Neutropenia ORPHA:391673
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Diarrhea, T lymphocytopenia, B lymph... OMIM:619313
Immunodeficiency 55
Diarrhea, Short stature, Absent natural killer cells, Eczema, Lymphopenia, Lymphadenopathy, Recur... OMIM:617827
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, T lymphocytopenia, Gastritis, Colitis, Recurrent skin infections, Splenomegaly, Villous... OMIM:619381
Insulin-Resistance Syndrome Type B
Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes melli... ORPHA:2298
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Diarrhea, Short stature, Fat malabsorption, Abnormal erythrocyte morphology, Post... ORPHA:96180
Argininemia
Vomiting, Portal fibrosis, Episodic vomiting, Micronodular cirrhosis, Cholestasis, Hepatomegaly, ... OMIM:207800
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Morphological abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:2847
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Thrombocytopenia, Hypoplastic spleen OMIM:185070
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... ORPHA:288
Whim Syndrome
Lymphadenitis, Abnormality of neutrophil morphology, Lymphopenia, Parotitis, Abnormal small intes... ORPHA:51636
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia OMIM:226730
Liver Disease, Severe Congenital
Diarrhea, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Eczema, Hepatic steato... OMIM:619991
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... ORPHA:90041
Abetalipoproteinemia
Hepatic fibrosis, Vomiting, Cirrhosis, Anemia, Fat malabsorption, Elevated hepatic transaminase, ... ORPHA:14
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum, Rhizomelia, Short stature OMIM:602613
Doors Syndrome
Thrombocytosis ORPHA:79500
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Anemia, Hypoglycemia OMIM:609069
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Constipation, Abnormality of mesentery morphology, Recur... ORPHA:2953
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia ORPHA:330015
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Congenital shortened small intestine, Esophageal atresia, Pulmonary lymphangiectasia, A... OMIM:265380
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Tarp Syndrome
Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Extramedullary hematopoiesis, Cleft p... ORPHA:2886
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Hepatic failure, Maculopapular exanthema, Anemia, Hem... ORPHA:797
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Secretory diarrhea, Hematochezia OMIM:618183
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Meier-Gorlin Syndrome 7
High palate, Short stature, Anal atresia, Duodenal stenosis, Anteriorly placed anus, Growth delay... OMIM:617063
Fryns Syndrome
Esophageal atresia, Aganglionic megacolon, Polysplenia, Anal atresia, Ectopic pancreatic tissue, ... OMIM:229850
Fanconi Anemia
Leukopenia, Anemia, High palate, Abnormality of the liver, Short stature, Pyridoxine-responsive s... ORPHA:84
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia, Recurrent skin infections ORPHA:79403
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Abnormal duodenum morphology, Intestinal malrotation, Constipation, Recurrent skin i... OMIM:601776
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Anemia, Short stature, Hepatosplenomegaly, Meckel diverticulum, Eosinophilia, L... OMIM:274000
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Intrauterine growth retardation, Short stature OMIM:601186
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Webbed neck, Malrotation of small bowel, Short stature, Biliary tract ab... OMIM:194190
Trisomy 8P
Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Constipation, Ann... ORPHA:264450
Mosaic Trisomy 16
Anteriorly placed anus, Meckel diverticulum, Intrauterine growth retardation, Abnormality of the ... ORPHA:1708
Autosomal Recessive Cutis Laxa Type 1
Severe short stature, Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation ORPHA:90349
Fraser Syndrome 1
Abnormality of the thymus, Cleft palate, Abnormal small intestine morphology, Abnormality of the ... OMIM:219000
Autosomal Dominant Cutis Laxa
Vomiting, Small bowel diverticula, Postnatal growth retardation, Intrauterine growth retardation ORPHA:90348
Down Syndrome
Short stature, Acute megakaryocytic leukemia, Aganglionic megacolon, Anal atresia, Macroglossia, ... OMIM:190685
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Viss Syndrome
Bifid tongue, Cleft soft palate, Chronic constipation, Bifid uvula, Eczema, Submucous cleft soft ... OMIM:619472
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Polysplenia, Anal atresia, Macroglossia, Hepatob... OMIM:312870
Genitopatellar Syndrome
Malrotation of small bowel, Anal atresia, Anteriorly placed anus, Dysphagia, Anal stenosis OMIM:606170
Pmm2-Cdg
Hepatic fibrosis, Vomiting, High palate, Impaired neutrophil chemotaxis, Elevated hepatic transam... ORPHA:79318