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 concentration Ercc5tm2b(EUCOMM)Hmgu HET Early adult 2.74×10-36
increased fasting circulating glucose level Ercc5tm2b(EUCOMM)Hmgu HET Early adult 8.02×10-05
preweaning lethality, complete penetrance Ercc5tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased hematocrit Ercc5tm2b(EUCOMM)Hmgu HET Early adult 1.87×10-24
thrombocytosis Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
increased mean corpuscular hemoglobin Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
decreased erythrocyte cell number Ercc5tm2b(EUCOMM)Hmgu HET Early adult 1.41×10-38

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 294)
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vas deferens 4.49% (16 of 356)
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 2.04% (1 of 49)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
external ear 2.13% (1 of 47)
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.28% (1 of 358)
forearm 0.0%
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
heart ventricle 0.0%
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
humerus pre-cartilage condensation 0.0%
inner ear 0.0%
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lower leg 0.0%
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
mesonephros of female 3.12% (1 of 32)
mesonephros of male 0.0%
metanephros 2.63% (1 of 38)
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
outflow tract 0.0%
pancreas 2.44% (1 of 41)
pericardium 2.38% (1 of 42)
pharynx 2.78% (1 of 36)
radius-ulna pre cartilage condensation 2.33% (1 of 43)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
stomach 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.38% (1 of 42)
trachea 2.17% (1 of 46)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
upper arm 0.48% (1 of 210)
upper leg 0.49% (1 of 204)
urinary system 0.0%
vibrissa 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left fundus

16 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Intrauterine growth retardation, Cleft palate 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
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
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
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocythemia 3
Thrombocytosis OMIM:614521
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Growth delay, Anem... ORPHA:100025
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... ORPHA:3032
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Intrahe... OMIM:601847
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Immunodeficiency 31C
Lymphopenia, Short stature, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis,... OMIM:614162
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor, Growth delay OMIM:243320
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Esophagiti... OMIM:619079
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased fecal bile acid OMIM:613291
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:209950
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... ORPHA:79301
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... OMIM:602347
Disorder Of Bile Acid Synthesis
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... ORPHA:79168
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea, Fat malabsorption... OMIM:211600
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Jejunal Atresia
Jejunal atresia OMIM:243600
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Atresia Of Small Intestine
Short stature, Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejunal atresia, Intraute... ORPHA:1201
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix OMIM:613490
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, Abnormal peristalsi... OMIM:615237
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Thrombocytosis, Coombs-positive hemolytic anemia, Asplenia OMIM:614034
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Cirrhosis, Diarrh... OMIM:607765
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Eczema, Intrauterine growth retardation OMIM:233810
Cholestasis-Lymphedema Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepatic transaminase, ... OMIM:214900
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Villous atrophy, Prote... OMIM:602579
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Mpi-Cdg
Decreased liver function, Hepatomegaly, Diarrhea, Vomiting, Protein-losing enteropathy, Hepatic f... ORPHA:79319
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... OMIM:619445
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... ORPHA:2978
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastroi... ORPHA:2070
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the large intestine, Colorectal polyposis, Biliary tra... ORPHA:157798
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Diarr... OMIM:615710
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, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Splenomegaly, Short stature, Episodic vomiting, Villous atrophy, Pancyt... OMIM:616050
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Celiac disease OMIM:618985
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... OMIM:261000
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Hypercholanemia, Familial 1
Fat malabsorption, Pruritus, Steatorrhea OMIM:607748
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ... OMIM:614602
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Acanthocytosis, Elevated hepatic transaminase, Increased hepatoc... ORPHA:71
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Increased proportion of HLA DR+ T cells, Nor... ORPHA:398063
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Vomiting, Pyloric stenosis, Increased mean platelet volume, Intestinal ps... OMIM:300048
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Enteric Anendocrinosis
Malabsorption, Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension ORPHA:83620
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Postnatal growth retardation, ... OMIM:232700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia OMIM:226300
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormalit... ORPHA:234
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Lymphopenia, Leukopenia OMIM:615934
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic failure, Steatorrhea, E... ORPHA:79303
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intrauterine growth retardation, Duodenal atresia, Bloody diarrhea, Lymphopenia, Intestinal atres... OMIM:243150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Hepatosplenomegaly, Eosinophil... OMIM:618999
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Beta-Ketothiolase Deficiency
Hypoglycemia, Thrombocytosis, Leukocytosis, Hyperglycemia ORPHA:134
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... ORPHA:131
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... ORPHA:324636
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Duodenal stenosis ORPHA:1759
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Eczema, Vomiting, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-po... OMIM:619510
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous atrophy, Protracted d... OMIM:209920
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Protein-losing enteropat... OMIM:608104
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis OMIM:614328
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Intestinal polyp, Diar... ORPHA:263665
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Episodic vomiting, Ileoileal intussusception, Cholestasis, Vill... OMIM:619377
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Ileal ulcer, Hemolytic anemia, Thrombocytopenia OMIM:616744
Poems Syndrome
Polycythemia, Thrombocytosis, Diabetes mellitus ORPHA:2905
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Nonketotic hypoglycemia, Thrombocytosis, Recurrent hypoglycemia, Anemia ORPHA:20
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Type I diabetes mellitus, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Autoimmune thrombocytopenia, Throm... OMIM:304790
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Alg6-Cdg
Abnormality of the liver, Protein-losing enteropathy, Jaundice, Macroglossia ORPHA:79320
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Short st... OMIM:615952
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Colonic Atresia
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... ORPHA:1198
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Medullary Thyroid Carcinoma
Dysphagia, Diarrhea, Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Microvillus Inclusion Disease
Pruritus, Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology ORPHA:2290
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... ORPHA:30391
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Type I d... OMIM:615688
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Alg1-Cdg
Abnormality of the gastrointestinal tract, Decreased liver function, Protein-losing enteropathy, ... ORPHA:79327
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:612653
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Postnatal growth retardati... OMIM:615190
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis, Protein-losing enteropath... OMIM:175500
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Diarrhea, Cholestasis, Hepatic fibrosis, Jejunal atresia, Growth delay, Microcolon, Vo... OMIM:609313
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Chronic Granulomatous Disease
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Eczema, Mediastinal lymphad... ORPHA:379
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Cystic Fibrosis
Malabsorption, Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Reduced natural killer cell count, Decreas... OMIM:301074
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Enlarged tonsils, Eczema, Hepatosplenomega... OMIM:606367
Hepatocellular Carcinoma
Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Anemia, Thrombocytopenia ORPHA:88673
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Short stature ORPHA:281090
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Skin rash, Cirrhosis, ... ORPHA:779
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Diarrhea OMIM:600955
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Blue Rubber Bleb Nevus
Abnormality of the liver, Intestinal bleeding, Intussusception, Iron deficiency anemia, Rectal pr... OMIM:112200
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Anemia, Abnormal lymphatic vessel morphology, Reduced proportio... ORPHA:90362
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hep... ORPHA:101330
Mednik Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:171851
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Gly... ORPHA:552
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Esophageal varix, Pruritus, Prolonged neona... OMIM:301068
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of ... OMIM:614700
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185000
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Oculoskeletodental Syndrome
Hepatomegaly, Macroglossia, Short stature, Splenomegaly, Protein-losing enteropathy OMIM:618440
Netherton Syndrome
Intestinal atresia, Villous atrophy, Hypereosinophilia, Erythroderma, Abnormal intestine morphology OMIM:256500
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Visceral Myopathy 1
Constipation, Pancreatitis, Diarrhea, Vomiting, Dysphagia, Megaduodenum, Intestinal pseudo-obstru... OMIM:155310
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum ORPHA:2357
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Mungan Syndrome
Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Gastroparesis OMIM:611376
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Irida Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:209981
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Bloody diarrhea, Intestinal atresia, Intestinal malrotation, Hyp... ORPHA:436252
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplen... ORPHA:1655
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Gastrointes... ORPHA:731
Dextrocardia
Webbed neck, Intestinal malrotation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormalit... ORPHA:1666
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis ORPHA:84064
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Enterocolitis, Neutropenia in presence of anti... ORPHA:391487
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatomegaly, Cleft palate, Hepatic failure, Splenomegaly, Pulmonary lymphangiectasi... OMIM:235255
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Neutropenia, ... OMIM:557000
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Rec... ORPHA:90291
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... ORPHA:210122
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Congenital Disorder Of Glycosylation, Type Id
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Short stature, Leukopenia, Esophageal stricture, Hypoplasti... OMIM:617053
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Cat Eye Syndrome
Anal atresia, Rectal fistula, Cleft palate, Short stature, Intestinal malrotation, Biliary atresi... OMIM:115470
Brucellosis
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism ORPHA:1304
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia, Polysplenia OMIM:619608
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Abnorma... ORPHA:512
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Diarrhea, Hematochezia, Rectal... OMIM:174900
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Hepatomegaly, Intestinal malrotation, Trach... ORPHA:2538
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Vomitin... ORPHA:79240
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Short stature, Pyloric stenosis, Neutropenia, Intrauterine growth retardation, Mecke... OMIM:616395
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Short stature, Aplasia of the thymus ORPHA:3004
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... ORPHA:2929
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary tract abnormality,... OMIM:156810
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Abcd Syndrome
Polycythemia OMIM:600501
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Anemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... OMIM:619573
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thromb... ORPHA:2968
Immunodeficiency 17
Recurrent gastroenteritis, Chronic oral candidiasis, Eczema, T lymphocytopenia, Decreased proport... OMIM:615607
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... ORPHA:811
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Mild postnat... ORPHA:456312
Gracile Bone Dysplasia
Ankyloglossia, Hypoplastic spleen, Asplenia, Short stature OMIM:602361
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Diaphanospondylodysostosis
Cleft palate, Abnormal liver lobulation, Disproportionate short-trunk short stature, Webbed neck,... OMIM:608022
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Intestinal malrotation, Webbed neck, Intrau... ORPHA:99776
Harrod Syndrome
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Aganglionic megac... OMIM:601095
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Mild postnatal growth retardation, Thyroid lymphangiectasia, Erysipelas, Rectal pr... OMIM:235510
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Decreased proportion of naive T cells, Colitis,... OMIM:619381
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... ORPHA:699
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Duodenal Atresia
Duodenal atresia OMIM:223400
Necrotizing Enterocolitis
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Thrombocytopenia, Hyperglycemia ORPHA:391673
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Immunodeficiency 55
Neutropenia, Lymphopenia, Recurrent skin infections, Short stature, Eczema, Diarrhea, Absent natu... OMIM:617827
Zygomycosis
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Hematoch... ORPHA:73263
Scedosporiosis
Unusual skin infection, Abnormal jejunum morphology ORPHA:449280
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp... ORPHA:2298
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Diarrhea, Acanthocytosis, Fat malabsorption, Postnatal growth retardation, Abnorma... ORPHA:96180
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte tra... OMIM:619313
Argininemia
Hepatomegaly, Micronodular cirrhosis, Postnatal growth retardation, Episodic vomiting, Vomiting, ... OMIM:207800
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Whim Syndrome
Lymphopenia, Lymphadenitis, Abnormality of the small intestine, Neutropenia, Parotitis, Abnormali... ORPHA:51636
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Eczema, Diar... OMIM:619991
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia OMIM:226730
Abetalipoproteinemia
Hepatomegaly, Steatorrhea, Anemia, Cirrhosis, Vomiting, Acanthocytosis, Elevated hepatic transami... ORPHA:14
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Rhizomelia, Meckel diverticulum, Short stature OMIM:602613
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Doors Syndrome
Thrombocytosis ORPHA:79500
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis ORPHA:330015
Musculocontractural Ehlers-Danlos Syndrome
High palate, Constipation, Cleft palate, Recurrent skin infections, Malrotation of small bowel, A... ORPHA:2953
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Protein-losing enteropathy, Hematochezia OMIM:618183
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... OMIM:265380
Sarcoidosis
Decreased liver function, Hepatomegaly, Hepatic failure, Abnormality of the lymph nodes, Maculopa... ORPHA:797
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Cleft palate, Short stature, Anal stenosis, Duodenal stenosis, Growth ... OMIM:617063
Tarp Syndrome
Cleft palate, Glossoptosis, Extramedullary hematopoiesis, Abnormal duodenum morphology, Tongue no... ORPHA:2886
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Storm Syndrome
Fat malabsorption OMIM:185069
Alg9-Cdg
Gastroesophageal reflux, Periportal fibrosis, Hepatomegaly, Diarrhea, Vomiting, Bifid uvula, Hepa... ORPHA:79328
Fanconi Anemia
High palate, Anal atresia, Abnormality of the liver, Intrauterine growth retardation, Cleft palat... ORPHA:84
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia