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Gene: Stk11 MGI:1341870

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serine/threonine kinase 11
Synonyms:
Lkb1,  Par-4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Stk11 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 Stk11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peutz-Jeghers Syndrome
Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan... ORPHA:2869
Peutz-Jeghers Syndrome
Breast carcinoma, Bloody diarrhea, Ovarian cyst, Intussusception, Gastrointestinal carcinoma, Abd... OMIM:175200
Melanoma, Cutaneous Malignant, Susceptibility To, 1
Cutaneous melanoma, Uveal melanoma, Numerous nevi OMIM:155600
Testicular Germ Cell Tumor
Choriocarcinoma, Teratoma, Embryonal neoplasm, Azoospermia OMIM:273300
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350

The table below shows human diseases predicted to be associated to Stk11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Lynch Syndrome 8
Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis color... OMIM:613244
Lynch Syndrome 4
Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic polyposis, Adenomatous colonic pol... OMIM:610069
Desmoid Disease, Hereditary
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Cowden-Like syndrome
Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma OMIM:612359
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Colorectal Cancer
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... OMIM:114500
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Polymerase Proofreading-Related Adenomatous Polyposis
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... ORPHA:447877
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Muir-Torre Syndrome
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... ORPHA:587
Familial Adenomatous Polyposis 3
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... OMIM:616415
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Colorectal polyposis, Astrocytoma, Adenocar... ORPHA:220460
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Gastric Cancer
Stomach cancer OMIM:613659
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid... ORPHA:157794
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... ORPHA:454840
Spermatogenic Failure 17
Male infertility OMIM:617214
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... OMIM:617100
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Gastric diverticulum, Colorectal polyposis, Bladder ... ORPHA:157798
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis OMIM:246470
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... ORPHA:523
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... ORPHA:247798
Msh3-Related Attenuated Familial Adenomatous Polyposis
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... ORPHA:480536
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Colon cancer, Glioblastoma multiforme, Adenomatous colonic polyposis, Non-Hodgkin ly... OMIM:619101
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Rectal polyposis, Hemato... ORPHA:329971
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Hirschsprung Disease
Diarrhea, Nausea and vomiting, Functional abnormality of the gastrointestinal tract, Aganglionic ... ORPHA:388
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Paraganglioma And Gastric Stromal Sarcoma
Neoplasm of the gastrointestinal tract, Paraganglioma OMIM:606864
Familial Adenomatous Polyposis 1
Duodenal polyposis, Fibroma, Multiple lipomas, Astrocytoma, Medulloblastoma, Odontoma, Adrenocort... OMIM:175100
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Desmoid Tumor
Fibroma, Malabsorption, Abdominal pain, Neoplasm of the skin, Intestinal polyposis, Intestinal ob... ORPHA:873
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Peutz-Jeghers Syndrome
Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan... ORPHA:2869
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... OMIM:193250
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Nausea... ORPHA:44890
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Pten Hamartoma Tumor Syndrome
Papilloma, Breast carcinoma, Thyroid carcinoma, Renal cell carcinoma, Multiple trichilemmomata, G... ORPHA:306498
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention ORPHA:103909
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Familial Adenomatous Polyposis
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... ORPHA:733
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Ganglioneuroma
Episodic abdominal pain, Colorectal polyposis, Abnormal prostate morphology, Multiple intestinal ... ORPHA:251992
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Miscarriage OMIM:136580
Birt-Hogg-Dube Syndrome
Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Renal neopl... OMIM:135150
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting ORPHA:99977
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Burkitt Lymphoma
Abnormality of the liver, Nausea and vomiting, Abdominal pain, Abnormality of the ovary, Neoplasm... ORPHA:543
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... OMIM:150800
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... ORPHA:160148
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... OMIM:266600
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Lymphadenopathy, Splenomegaly, B-cell lymphoma ORPHA:52416
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Wolman Disease
Hepatic failure, Anemia, Nausea and vomiting, Steatorrhea, Abdominal distention, Malnutrition, Bo... ORPHA:75233
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Anemia, Neoplasm of the central nervous system, Nausea and vomiting, Ileus, Sar... ORPHA:83469
Gastrointestinal Stromal Tumor
Neurofibromas, Constipation, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Cronkhite-Canada Syndrome
Stomach cancer, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Intestinal p... ORPHA:2930
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Poor suck, Poor appetite, Nausea and vomiting, Esophageal neoplasm, Abno... ORPHA:2198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Atresia Of Small Intestine
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Intestinal hypoplasia, F... ORPHA:1201
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Neoplasm, Constipation, Peritonitis ORPHA:168829
Pseudomyxoma Peritonei
Nausea and vomiting, Abdominal pain, Inflammation of the large intestine, Constipation, Intestina... ORPHA:26790
Carney-Stratakis Syndrome
Paraganglioma, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Ga... ORPHA:97286
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Neoplasm, Peritonitis, Ileus ORPHA:168811
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Hereditary Breast And Ovarian Cancer Syndrome
Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... ORPHA:145
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, High palate, Osteoma, Hepatoblastoma, Colon cancer, Intestinal bleeding, Desm... ORPHA:261584
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Lynch Syndrome
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... ORPHA:144
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcino... ORPHA:99976
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Diarrhea 12, With Microvillus Atrophy
Vomiting, Dependency on parenteral nutrition, Villous atrophy, Abdominal distention, Microvillus ... OMIM:619445
Cowden Syndrome
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... ORPHA:201
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abdo... ORPHA:206484
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Small place... ORPHA:439167
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Melena OMIM:619182
Congenital Pancreatic Cyst
Vomiting, Abdominal pain, Jaundice, Abdominal distention, Anorexia, Pancreatitis ORPHA:313906
Alpha-Heavy Chain Disease
Lymphoma, Anemia, Malabsorption, Abdominal pain, Lymphadenopathy, Hepatomegaly, Abnormal small in... ORPHA:100025
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Abdominal pain, Abnormality of the ova... ORPHA:314473
Turcot Syndrome With Polyposis
Diarrhea, Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplas... ORPHA:99818
Budd-Chiari Syndrome
Cirrhosis, Malabsorption, Abdominal pain, Jaundice, Elevated hepatic transaminase, Cholecystitis,... ORPHA:131
Carcinoma Of Esophagus
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Dysphagia, Barrett e... ORPHA:70482
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... OMIM:615237
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Cowden Syndrome 7
Papilloma, Breast carcinoma, Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Heman... OMIM:616858
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus OMIM:109350
Peutz-Jeghers Syndrome
Breast carcinoma, Bloody diarrhea, Ovarian cyst, Intussusception, Gastrointestinal carcinoma, Abd... OMIM:175200
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Gonadal calcification, Abdominal pain, Abnormality of the o... ORPHA:314478
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention, B-cell lymphoma ORPHA:48686
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... OMIM:620045
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Hepatocellular carcinoma, Neoplasm of the thyroid gland, Neoplasm of th... ORPHA:440437
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abdominal distention, Cholestasis, Hepa... OMIM:618528
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly OMIM:617068
Ppoma
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... ORPHA:97278
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Muir-Torre Syndrome
Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit... OMIM:158320
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Grfoma
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... ORPHA:97261
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Abdominal d... ORPHA:369
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Enterocolitis, Jejunal atresia, Interface hepatitis, Hematochezia, Intestinal ma... OMIM:243150
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... ORPHA:2929
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, ... OMIM:613662
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... ORPHA:79301
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating alanine aminotransferase concentration, Vomiting, Diarrhea, Elevated circula... OMIM:605911
Waardenburg-Shah Syndrome
Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Constipation, Intestinal ob... ORPHA:897
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Peroxisome Biogenesis Disorder 10A (Zellweger)
Feeding difficulties, High palate, Hepatomegaly OMIM:614882
Somatostatinoma
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... ORPHA:97283
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Breast carcinoma, Macroorchidism, Vomiting, Abnormality of female external genitalia, Jaundice, M... ORPHA:90790
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... OMIM:300048
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomiti... ORPHA:1018
Neuroendocrine Neoplasm Of Appendix
Ileal adenocarcinoma, Episodic abdominal pain, Midgut malrotation, Mechanical ileus, Adenocarcino... ORPHA:100079
Immunodeficiency 104
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
Zollinger-Ellison Syndrome
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... ORPHA:913
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocyt... OMIM:278000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Glossitis, Anorexi... OMIM:175500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Hypospadias, Intestinal polyp, Cryptorchidism, Lactose intolerance, Protuberant abdomen ORPHA:457485
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Abdominal distention OMIM:174050
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia, Abnormality of mesentery ... ORPHA:1198
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Esophageal var... ORPHA:75234
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Glucose/Galactose Malabsorption
Malabsorption, Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the nervous system, Prostate cancer, Genital neoplasm, Neoplasm of the liver, Vaginal... ORPHA:2126
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Neoplasm, Constipation, Peritonitis ORPHA:168816
Pfapa Syndrome
Nausea and vomiting, Malabsorption, Abdominal pain, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Abd... ORPHA:1876
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Coproporphyria, Hereditary
Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Jaundice, Constipation, Hep... OMIM:121300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abnormal intestine morphology, Intestinal obst... OMIM:226300
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Vomiting, Elevated circulating alanine aminotransferase con... ORPHA:90003
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix, Splenomegaly OMIM:613490
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Radiation Proctitis
Abnormal gastrointestinal vascular morphology, Diarrhea, Abnormal rectum morphology, Rectal absce... ORPHA:70475
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly, B-cell lymphoma ORPHA:86893
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,... OMIM:602347
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Basal cell carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Colitis, Chronic diarrhea, Sp... OMIM:619164
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Thrombocytopenia, Hepatomegaly, ... OMIM:133180
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, B-cell lymphoma OMIM:619437
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Cirrhosis, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appeti... ORPHA:298
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Intestinal obstruction, Gastrointestinal... ORPHA:343
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Colorectal polyposis, Cerebellar medulloblastoma, Alveol... ORPHA:276399
Hereditary Amyloidosis With Primary Renal Involvement
Gastroesophageal reflux, Intestinal perforation, Vomiting, Primary testicular failure, Diarrhea, ... ORPHA:85450
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Adenocarcinoma of the small intestine, Astrocytoma, Adenocarcinoma of ... OMIM:276300
Cirrhosis, Familial
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Abdominal distention, Micronodular c... OMIM:215600
Squamous Cell Carcinoma Of The Anal Canal
Papilloma, Abdominal pain, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, An... ORPHA:424019
Congenital Tufting Enteropathy
Elevated fecal osmolality, Vomiting, Abnormal large intestinal mucosa morphology, Villous atrophy... ORPHA:92050
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... OMIM:277320
Thyroid Hemiagenesis
Constipation, Jaundice, Macroglossia, Abdominal distention ORPHA:95719
Glucagonoma
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... ORPHA:97280
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Episodic abdominal pain, Neoplasm of the nervous system, Extrahepatic chol... ORPHA:100086
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Jaundice, Elevated circulating aspartate aminotransferase concen... OMIM:614876
Cholestasis-Lymphedema Syndrome
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver dis... OMIM:214900
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Melanoma, High, narrow palate, Endometrial carcinoma, Breast carcinoma ORPHA:457212
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Diarrhea, Liver abscess, Abdominal pain, Elevated hepatic transaminase, Protract... ORPHA:67
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low posterior hairline, Small placenta, Delayed eruption of teeth ORPHA:73272
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splen... OMIM:614480
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Pyknoachondrogenesis
Stillbirth OMIM:265880
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Peripheral Primitive Neuroectodermal Tumor
Episodic abdominal pain, Precocious puberty, Nausea and vomiting, Neoplasm of the pancreas, Spina... ORPHA:370348
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Abdominal pain, Biliary t... ORPHA:234
Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Cowden Syndrome 1
Breast carcinoma, High palate, Colonic diverticula, Fibroadenoma of the breast, Hydrocele testis,... OMIM:158350
Galactose Epimerase Deficiency
Nausea and vomiting, Jaundice, Hepatomegaly, Feeding difficulties, Splenomegaly ORPHA:79238
Benign Schwannoma
Abnormality of the liver, Abnormal parotid gland morphology, Schwannoma, Intestinal polyposis, Ab... ORPHA:252164
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Colon cancer, Lisch nodules, Glioblastoma multifor... OMIM:619097
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Secondary Intestinal Lymphangiectasia
Lymphoma, Cirrhosis, Vomiting, Increased stool alpha1-antitrypsin concentration, Intussusception,... ORPHA:90363
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Episodic abdominal pain, Neoplasm of the nervous system, Chronic noninfect... ORPHA:100085
Cowden Syndrome 6
Breast carcinoma, High palate, Colonic diverticula, Fibroadenoma of the breast, Hydrocele testis,... OMIM:615109
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Diarrhea, Fat malabsorption, Hepatocellular carcinoma, Intrahep... OMIM:601847
Athyreosis
Constipation, Feeding difficulties, Macroglossia, Abdominal distention ORPHA:95713
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Vomiting, Diarrhea, Abdominal distention, Thrombocytopenia, Cholestasis, Hepatomegaly, De... OMIM:608104
Bannayan-Riley-Ruvalcaba Syndrome
Lymphoma, Narrow palate, Neoplasm of the adrenal cortex, Thyroid carcinoma, Abnormal large intest... ORPHA:109
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction, Clitoral hypertrophy OMIM:150700
Lambert Syndrome
Branchial anomaly ORPHA:1296
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Nausea and vomiting, Abdominal pain, Jaundice, Acholic stools, Bilia... ORPHA:1414
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Intestinal polyposis OMIM:174800
Oligodontia-Colorectal Cancer Syndrome
Breast carcinoma, Colon cancer, Adenomatous colonic polyposis, Fundic gland polyposis OMIM:608615
Congenital Hypothyroidism
Hypogonadism, Feeding difficulties in infancy, Macroglossia, Abdominal distention, Tracheoesophag... ORPHA:442
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... ORPHA:2494
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Polyembryoma
Macroorchidism, Isosexual precocious puberty, Abdominal pain, Gonadal neoplasm, Neoplasm of head ... ORPHA:180229
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Ascites, Jaun... ORPHA:64743
Steinert Myotonic Dystrophy
Cholelithiasis, Nasogastric tube feeding in infancy, Diarrhea, Feeding difficulties in infancy, E... ORPHA:273
Chylomicron Retention Disease
Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Abdominal dist... ORPHA:71
Systemic Primary Carnitine Deficiency
Vomiting, Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, Neoplasm of the breast ORPHA:618
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... ORPHA:158057
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Breast carcinoma, Extrahepatic cholestasis, Intermittent diarrhea, Poo... ORPHA:1333
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Cowden Syndrome 5
Breast carcinoma, High palate, Colonic diverticula, Hydrocele testis, Meningioma, Transitional ce... OMIM:615108
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Malabsorption, Squamous cell carcinoma, Basal cell carcinoma, Intestinal obstructio... OMIM:601675
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Aplasia/Hypoplasia of the colon... ORPHA:3440
Chylous Ascites
Ascites, Abnormal intestine morphology, Neoplasm, Pancreatitis ORPHA:1160
Hodgkin Lymphoma
Lymphoma, Anorexia, Lymphadenopathy, Neoplasm, Hepatomegaly, Splenomegaly ORPHA:98293
Niemann-Pick Disease, Type A
Elevated circulating alanine aminotransferase concentration, Vomiting, Sea-blue histiocytosis, Pr... OMIM:257200
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Abnormal intestine morphology, Villous atrophy, Protracted diarrhea OMIM:251850
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Autoinflammation With Episodic Fever And Lymphadenopathy
Abdominal pain, Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsill... OMIM:618852
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Abdominal distention, Episodic vomiti... ORPHA:100924
Visceral Myopathy 1
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Abdominal pain, Microcolon, Pancreatitis... OMIM:155310
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Acrocephalopolydactyly
Hepatosplenomegaly, Protuberant abdomen ORPHA:221054
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis, Abnormality of the gastrointestinal tract, Nausea and vomiting, Microcolon, Abdo... ORPHA:2241
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... OMIM:607765
Mast Cell Sarcoma
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Hepatocellular carcinoma, Nausea, Constipation OMIM:176000
Juvenile Polyposis Of Infancy
Diarrhea, High, narrow palate, Intussusception, Freckled genitalia, Abdominal pain, Hematochezia,... ORPHA:79076
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Umbilical hernia, Large placenta ORPHA:254534
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Hepatomegaly OMIM:269840
Subependymoma
Vomiting, Neoplasm of the lung, Neoplasm of the liver, Spinal cord tumor, Ependymoma, Supratentor... ORPHA:251639
Ependymoma
Vomiting, Neoplasm of the lung, Neoplasm of the liver, Spinal cord tumor, Ependymoma, Supratentor... ORPHA:251636
Combined Saposin Deficiency
Feeding difficulties, Splenomegaly, Hepatomegaly OMIM:611721
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Splenomegaly, Hepatomegaly, Myeloproliferative disorder OMIM:607685
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Renal oncocytoma, Papillary renal cell carcinoma, Renal cortical adenoma, Neopl... ORPHA:97290
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho... OMIM:235555
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Vomiting, Microvesicular hepatic ste... OMIM:613070
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Abdominal pain, Mult... OMIM:174900
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Wrist flexion contracture, Decr... OMIM:208150
Castleman Disease
Anemia, Abnormality of the gastrointestinal tract, Nausea and vomiting, Abdominal pain, Jaundice,... ORPHA:160
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate ORPHA:2432
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma OMIM:615593
Igg4-Related Aortitis
Abdominal pain, Intestinal obstruction ORPHA:449400
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Permanent Congenital Hypothyroidism
Jaundice, Macroglossia, Abdominal distention, Constipation, Feeding difficulties ORPHA:226292
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Extramedullary hematopoiesis, Hepatomegaly, Chronic diarrhea... OMIM:615285
Currarino Syndrome
Anal fistula, Perianal abscess, Bicornuate uterus, Chronic constipation, Anal atresia, Abdominal ... OMIM:176450
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Abdominal ... ORPHA:90039
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarrhea, Rectovaginal fistula OMIM:270420
Aicardi Syndrome
Gastroesophageal reflux, Multiple lipomas, Precocious puberty, Malabsorption, Feeding difficultie... ORPHA:50
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Galactosemia Iii
Jaundice, Vomiting, Splenomegaly, Hepatomegaly OMIM:230350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Elevated c... OMIM:619868
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Diarrhea... OMIM:613812
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Ambiguous genitalia, Myelodysplasia, Vaginal neoplasm, Acute lymp... ORPHA:1052
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, High palate, Thyroid lymphangiectasia, Ascites, Pulmonary lymphangiectasia, Abdo... OMIM:235255
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Multiple Symmetric Lipomatosis
Multiple lipomas, Hepatomegaly ORPHA:2398
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Hepatocellular Carcinoma
Diarrhea, Elevated hepatic transaminase, Neoplasm, Hepatomegaly, Thrombocytopenia, Abnormal rectu... ORPHA:88673
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, L... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic chol... OMIM:211600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Steatorrhea, Malnutrition, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of i... OMIM:612714
Hereditary Hemorrhagic Telangiectasia
Hepatic failure, Cirrhosis, Visceral angiomatosis, Intestinal polyposis, Cholecystitis, Cavernous... ORPHA:774
Harderoporphyria
Vomiting, Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Prol... OMIM:618892
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Inflammation of the large intestine, Hemophagocytosis, Hepatomegaly, Col... OMIM:300635
Familial Mediterranean Fever
Diarrhea, Orchitis, Nausea and vomiting, Malabsorption, Abdominal pain, Intestinal obstruction, O... ORPHA:342
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea, Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obl... OMIM:619849
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Nausea and vomiting, Malabsorption, Abdominal pain, Intestinal obstructi... ORPHA:183
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Constipation, Prolonged neon... ORPHA:226313
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... ORPHA:822
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Episodic abdominal pain, Peptic ulcer, Nephroblastoma, Pancreatic adenocarcinoma, Parath... ORPHA:99880
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Meckel Syndrome, Type 8
Cleft palate, Enlarged kidney, Abdominal distention OMIM:613885
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma, Unilateral vestibular schwannoma OMIM:603641
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Feedin... OMIM:613489
Primary Biliary Cholangitis
Hepatic failure, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Hepatocellu... ORPHA:186
Qazi-Markouizos Syndrome
Chronic constipation, High, narrow palate, Abdominal distention, Cryptorchidism ORPHA:3010
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, High palate, Pulmonary lymphangiectasia, Abdominal distention, Hepatosplenomegal... ORPHA:1655
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Dysphagia ORPHA:77260
Lysosomal Acid Lipase Deficiency
Diarrhea, Elevated hepatic transaminase, Hepatosplenomegaly, Bone-marrow foam cells, Decreased li... ORPHA:275761
Parathyroid Carcinoma
Fibroma, Episodic abdominal pain, Peptic ulcer, Nephroblastoma, Pancreatic adenocarcinoma, Thyroi... ORPHA:143
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Caroli Disease
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated cir... ORPHA:53035
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... OMIM:269600
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Nau... OMIM:618549
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia ORPHA:281090
Sclerosing Cholangitis, Neonatal
Hepatic failure, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Cancer-Associated Retinopathy
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... ORPHA:71505
Sepsis In Premature Infants
Anemia, Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tract, ... ORPHA:90051
Mpi-Cdg
Hepatic fibrosis, Vomiting, Diarrhea, Gastrointestinal hemorrhage, Hepatomegaly, Decreased liver ... ORPHA:79319
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Neoplasm of head and neck, Colon cancer, Follicular thyroid carci... ORPHA:319487
Immunodeficiency 61
Malabsorption, Colon cancer, Frequent Giardia lamblia infestation OMIM:300310
Sanjad-Sakati Syndrome
Hypoplasia of penis, Intestinal obstruction, Cryptorchidism ORPHA:2323
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Porphyria Variegata
Abnormality of the liver, Abdominal pain, Hepatocellular carcinoma, Elevated hepatic transaminase... ORPHA:79473
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thrombocytopenia, Splenom... OMIM:613101
Shigellosis
Intestinal perforation, Bloody diarrhea, Vomiting, Hepatic failure, Paralytic ileus, Abdominal pa... ORPHA:810
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic failure, Vomiting, Hepatic fibrosis, Diarrhea, Villous atrophy, Cirrhos... OMIM:602579
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... ORPHA:436252
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Vomiting, Elevated circulating alanine aminotransferase concentration, Diarrhea,... OMIM:256810
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Feeding difficulties, Splenomegaly OMIM:615010
Immunodeficiency 69
Anemia, Diarrhea, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Hepatomegaly ORPHA:1759
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:615158
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Pyloric stenosis, Abdominal distention OMIM:256300
Hepatic Veno-Occlusive Disease
Jaundice, Abdominal pain, Elevated hepatic transaminase, Hepatomegaly, Ascites ORPHA:890
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Classic Hodgkin Lymphoma
Lymphoma, Poor appetite, Anorexia, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepato... ORPHA:391
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Knee flexion contracture, Camptodactyly, Pulmonary artery stenosis, Ankle flexion contracture, Br... ORPHA:435938
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Abdominal distention, Anorexia, Nausea, Leukocytosis, Recurrent infection of the ... ORPHA:51890
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Abdominal pain, Cholangiocarcinoma, Lymphadenopathy, Hepatome... ORPHA:99978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Hepatitis, Villous atrophy, Chronic diarrhea OMIM:304790
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Nasogastric tube feeding in infancy, High palate, Poor suck, Abnormality of the liver, Macrogloss... ORPHA:254864
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Stomach cancer, Breast carcinoma, Adenocarcinoma of the small intestin... ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... OMIM:301045
Letterer-Siwe Disease
Anemia, Jaundice, Abdominal distention, Hepatosplenomegaly, Thrombocytopenia, Neutropenia OMIM:246400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Diarrhea, Lymphopenia, Autoimmune thrombocytopenia, Autoimmu... OMIM:616100
Neuroendocrine Tumor Of The Rectum
Bloody diarrhea, Abdominal pain, Atypical pulmonary carcinoid tumor, Hypoactive bowel sounds, Ele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bloody diarrhea, Abdominal pain, Atypical pulmonary carcinoid tumor, Hypoactive bowel sounds, Ele... ORPHA:100082
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Diarrhea, Hepatomegaly OMIM:261750
Spermatogenic Failure 77
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia OMIM:620103
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormality of the pulmonary artery, Webbed neck, Branchial anomaly ORPHA:1131
Mirizzi Syndrome
Vomiting, Abdominal colic, Cholesterol gallstones, Abdominal pain, Jaundice, Elevated hepatic tra... ORPHA:521219
Acute Intermittent Porphyria
Diarrhea, Nausea and vomiting, Pseudobulbar paralysis, Abdominal pain, Hepatocellular carcinoma, ... ORPHA:79276
Immunodeficiency, Common Variable, 2
Lymphoma, Diarrhea, Lymphadenopathy, Follicular hyperplasia, Neoplasm, Hepatomegaly, Splenomegaly OMIM:240500
Aa Amyloidosis
Vomiting, Malabsorption, Enlarged kidney, Abdominal pain, Malnutrition, Nausea, Hepatomegaly, Chr... ORPHA:85445
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Polyhydramnios, Fetal akinesia sequence, Broad neck, Joint contracture ... OMIM:256520
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, M... ORPHA:254528
Medulloblastoma
Medulloblastoma, Cerebellar medulloblastoma, Nausea and vomiting, Spinal cord tumor, Elevated hep... ORPHA:616
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Abdominal pain, Atypical pulmonary carcinoid tumor, Hypoactive bowel sounds, Ele... ORPHA:100080
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Protuberant abdomen OMIM:618272
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Cirrhosis, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Hepatomegaly, ... OMIM:614602
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... OMIM:616828
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:613313
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... OMIM:619658
Adenocarcinoma Of The Anal Canal
Abdominal pain, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal ad... ORPHA:424016
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Indolent Systemic Mastocytosis
Abdominal cramps, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hemato... ORPHA:98848
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Constipation, Ileus ORPHA:52503
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Feeding difficulties i... OMIM:616050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Celiac Disease, Susceptibility To, 1
Lymphoma, Recurrent aphthous stomatitis, Vomiting, Diarrhea, Abdominal pain, Elevated hepatic tra... OMIM:212750
Combined Oxidative Phosphorylation Deficiency 53
Hypochromic microcytic anemia, Abdominal distention, Hepatomegaly OMIM:619423
Alpha-Thalassemia
Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog... ORPHA:846
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Hepatomegaly, Portal vein thrombosis ORPHA:33402
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Abdominal pain, Jaundice, Abdominal distention, Chronic hepatic failure, Naus... ORPHA:469
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vomiting, Diarrhea, Abdominal pain, Constipation, Intestinal obstruction, Orchitis, Peritonitis ORPHA:32960
Pediatric Systemic Lupus Erythematosus
Leukopenia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Abdominal pain, Microa... ORPHA:93552
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Feeding difficulties in infancy, Elevated hepatic transaminase, Generalized lymph... ORPHA:3260
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Elevated hepatic transaminase, Hepatic steatosis, Constipation, Hepatomegaly, D... OMIM:613327
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Feeding difficulties in infancy, Hepatomegaly OMIM:614870
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune throm... OMIM:300853
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Chronic diarrhea OMIM:600802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Thyroid Hypoplasia
Constipation, Jaundice, Macroglossia, Abdominal distention ORPHA:95720
Restrictive Dermopathy
Patent ductus arteriosus, Polyhydramnios, Camptodactyly of finger, Ascending tubular aorta aneury... ORPHA:1662
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Abdominal pain, Tufted angioma, Microangiopathic hemolytic anemia, Capillary ... ORPHA:2330
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Hepatomegaly, ... OMIM:610333
Biliary Atresia, Extrahepatic
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Scleros... OMIM:619662
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Pancreatoblastoma
Abnormal lymph node morphology, Pancreatic calcification, Vomiting, Diarrhea, Abdominal pain, Jau... ORPHA:677
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Juvenile gastrointestinal polypos... OMIM:175050
Intrinsic Factor Deficiency
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... OMIM:261000
Wilson Disease
Hepatic failure, Vomiting, Elevated circulating alanine aminotransferase concentration, Cirrhosis... OMIM:277900
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Episodic abdominal pain, Bloody diarrhea, Intermittent dia... ORPHA:100075
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... OMIM:214950
Sialuria
High palate, Macroglossia, Hepatomegaly, Splenomegaly, Protuberant abdomen OMIM:269921
Mungan Syndrome
Barrett esophagus, Hypoperistalsis, Megaduodenum, Abdominal pain, Intestinal pseudo-obstruction, ... OMIM:611376
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Inflammat... OMIM:232220
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Branchiootic Syndrome 1