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Gene: Cadps2 MGI:2443963

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Gene Summary

Name:
Ca2+-dependent activator protein for secretion 2
Synonyms:
Caps2,  A230044C21Rik,  cpd2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal salivary gland morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal pancreas morphology Cadps2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal duodenum morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal circulating alkaline phosphatase level Cadps2em1(IMPC)Rbrc HOM Late adult 1.50×10-05
enlarged lymph nodes Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal mean corpuscular hemoglobin Cadps2em1(IMPC)Rbrc HOM   Late adult 3.68×10-06
abnormal lymph node morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
increased circulating amylase level Cadps2em1(IMPC)Rbrc HOM   Early adult 8.54×10-05
abnormal jejunum morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal pancreas morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal ileum morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

17 Images

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Gross Pathology and Tissue Collection

Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Human diseases caused by Cadps2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Cadps2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anem... ORPHA:100025
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... ORPHA:543
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Hyperactivity, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive be... OMIM:604317
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Mucocutaneous Ulceration, Chronic
Ileitis, Oral ulcer OMIM:618287
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hypogonadism, Diabetes... ORPHA:79230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia, Delayed so... OMIM:618677
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy OMIM:608971
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Hepatic amyloidosis, Abnormal salivary gland morphology, Gastrointesti... ORPHA:314652
Juvenile Huntington Disease
Ataxia, Cerebellar vermis atrophy, Hyperactivity, Progressive cerebellar ataxia, Depression, Chor... ORPHA:248111
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Lissencephaly 1
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band heterotop... OMIM:607432
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Bi... OMIM:615710
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Failure to thrive, Periventricular heterotopia, Poor eye contact, Periventricular nodular heterot... OMIM:608097
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Depression, Men... OMIM:605361
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Depression, Memory impairment, Cerebellar atrophy, Dementia OMIM:604121
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Lymphadenopathy ORPHA:42642
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy OMIM:618852
Spinocerebellar Ataxia 12
Action tremor, Axial dystonia, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ataxia, Hyperactivity, Cerebellar atrophy OMIM:613402
Jejunal Atresia
Jejunal atresia OMIM:243600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Developmental And Epileptic Encephalopathy 44
Failure to thrive, Poor eye contact, Athetosis, Cerebellar atrophy, Dystonia, Irritability OMIM:617132
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simplified gyral ... ORPHA:1083
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Cerebellar vermis atrophy, Poor eye contact, Hyperactivity, Progressive language deterior... ORPHA:163681
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Igg4-Related Submandibular Gland Disease
Sialadenitis, Abnormal pancreas morphology, Eosinophilia, Xerostomia, Abnormal salivary gland mor... ORPHA:449432
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... ORPHA:97290
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia OMIM:604213
Lissencephaly 3
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissenceph... OMIM:611603
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... ORPHA:319487
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Cachexia, Mental deterioration, Anxiety, Chorea, Tremor, Gait atax... OMIM:618093
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... OMIM:243150
Refractory Celiac Disease
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proport... ORPHA:398063
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Poor eye contact, Anxiety, Tremor, Dystonia OMIM:619651
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Poor eye contact, Aplasia/Hypoplasia of the cerebellar vermis, Intention tremor, Partial ... ORPHA:137831
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... ORPHA:79493
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... ORPHA:424019
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Poor eye contact, Tremor, Aggressive behavior OMIM:300983
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Pancreatic Lipase Deficiency
Hypolipidemia, Fat malabsorption, Steatorrhea OMIM:614338
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Poor eye contact, Cerebellar atrophy, Dystonia, Irritability OMIM:618237
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Action tremor, Depression, Anxiety, Chorea, Tremor, Aggressive behavior, Cerebellar atrop... OMIM:619738
Niemann-Pick Disease Type C
Narcolepsy, Ataxia, Cerebellar vermis atrophy, Abnormal social behavior, Mental deterioration, Ch... ORPHA:646
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Inflammation of the large intestine, Abnormality of the ... ORPHA:26790
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... ORPHA:444002
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Duodenal atresia, Intestinal atresia ORPHA:3405
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Resting tremor, Depression, Mental deterioration, Head tremor, Memory impairm... ORPHA:314404
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... ORPHA:848
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia, Polysplenia OMIM:619608
Dopa-Responsive Dystonia
Arm dystonia, Agoraphobia, Leg dystonia, Abnormal social behavior, Depression, Oculogyric crisis,... ORPHA:255
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Feingold Syndrome
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Oral cleft, Esophageal atresia ORPHA:1305
Al Amyloidosis
Hepatomegaly, Macroglossia, Increased circulating NT-proBNP concentration, Xerostomia, Abnormalit... ORPHA:85443
Developmental And Epileptic Encephalopathy 98
Attention deficit hyperactivity disorder, Perisylvian polymicrogyria, Poor eye contact, Cerebella... OMIM:619605
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadocho... ORPHA:208513
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... ORPHA:2070
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Small for gestational age, Depression, Anxiety, Increased body ma... OMIM:300957
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Tes... ORPHA:83469
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Cerebellar hypoplasia ORPHA:521258
Kerion Celsi
Lymphadenopathy ORPHA:499
Cyclic Neutropenia
Periodontitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenopathy, Perit... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadeni... OMIM:618935
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, I... OMIM:601847
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Diarrhea 9
Villous atrophy OMIM:618168
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive, Ataxia, Cognitive impairment ORPHA:1314
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Abnormality of upper lip, Open m... ORPHA:2849
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Hyperactivity, Tremor, Aggressive behavior, Simplified gyral pattern OMIM:619470
Duodenal Atresia
Duodenal atresia OMIM:223400
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Protein-losing enteropathy, Hypo... ORPHA:103910
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... OMIM:608184
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Hypocalcemia, Euthyroid goiter, Nodular goiter,... ORPHA:64744
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Leukopenia, Abnormal macrophage morp... ORPHA:507
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Low ... ORPHA:95427
Fanconi Anemia, Complementation Group W
Duodenal atresia, Polysplenia, Decreased response to growth hormone stimulation test OMIM:617784
Muir-Torre Syndrome
Neoplasm of the liver, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer, Neoplasm of the s... ORPHA:587
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior, Cerebellar atrophy OMIM:271980
Unilateral Focal Polymicrogyria
Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment, Attention def... ORPHA:268947
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Cirrhosis, Villous atrophy, Protein-losing enteropathy, Hepatic fibros... OMIM:602579
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Cirrhosis, Hyp... OMIM:607765
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Decreased serum thromboxane B2, Esophageal ulceration, De... OMIM:618372
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Gamma-Heavy Chain Disease
Abnormal palate morphology, Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Thro... ORPHA:100026
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior ORPHA:101039
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Protein-losing enteropathy OMIM:619063
Melioidosis
Splenic abscess, Abnormality of the spleen, Liver abscess, Hepatitis, Abnormal parotid gland morp... ORPHA:31202
Cln5 Disease
Ataxia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Anxiety, Truncal atax... ORPHA:228360
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Hypoplasia of the pons... ORPHA:300573
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy OMIM:609924
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... OMIM:609425
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Dysmetria, Hyperactivity, Cerebellar atrophy OMIM:618090
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Microhydranencephaly
Poor eye contact, Self-mutilation, Cerebellar hypoplasia, Athetosis, Pachygyria, Hydranencephaly OMIM:605013
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Fat malabsorption, Cholestasis, Biliary tract abnormality ORPHA:79168
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... ORPHA:263455
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Recurrent infection of the gastrointestinal tract OMIM:605258
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Bile duct prol... ORPHA:79302
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased prop... OMIM:615559
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Cerebellar hypoplasia OMIM:300979
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... OMIM:619827
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Recurrent apht... OMIM:611762
Beta-Thalassemia Intermedia
Cholelithiasis, Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular v... ORPHA:231222
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the liver, Abnormal parotid g... ORPHA:252164
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Colitis, Lymphopenia, Enterocolitis, Hemophagocytos... OMIM:619802
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Fat malabso... OMIM:211600
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstr... OMIM:300048
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cerebellar vermis atrophy, Hyperactivity, Polymicrogyria, Tremor, Gait ataxia,... OMIM:300354
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ... OMIM:619750
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Ileal ulcer, Hemolytic anemia, Oral ulcer, Thrombocytopenia OMIM:616744
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:300067
Adenylosuccinase Deficiency
Happy demeanor, Poor eye contact, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Aggr... OMIM:103050
Immunodeficiency 31C
Autoimmune hemolytic anemia, Villous atrophy, Lymphopenia, Abnormal intestine morphology OMIM:614162
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Combined Immunodeficiency Due To Zap70 Deficiency
Colitis, Recurrent infection of the gastrointestinal tract, Lymphocytosis, Abnormality of the lym... ORPHA:911
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... OMIM:614034
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Lymphocyti... OMIM:616100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... OMIM:617718
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O... ORPHA:352682
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Shyness, Cerebellar atrophy ORPHA:280763
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Anemia, Abnormal... ORPHA:90362
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... OMIM:615237
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Thrombocytopenia, Abnormality of the submandibula... ORPHA:79078
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Reduced C-peptide l... OMIM:260370
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy ORPHA:69077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar ... OMIM:613153
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... OMIM:612840
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions OMIM:619445
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Hematochezia, Glossitis, Pr... OMIM:175500
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Eosi... ORPHA:449563
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Follicu... ORPHA:160
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Self-injurious behavior, Chorea, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis OMIM:200100
Aggressive Systemic Mastocytosis
Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thro... ORPHA:98850
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Thrombocytopeni... ORPHA:381
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... OMIM:616531
Ck Syndrome
Slender build, Hyperactivity, Polymicrogyria, Aggressive behavior, Pachygyria, Irritability ORPHA:251383
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... ORPHA:210122
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Intrahepatic cholestasis, Fat malabsorpti... OMIM:214950
Hereditary Amyloidosis With Primary Renal Involvement
Gastroesophageal reflux, Hepatomegaly, Abnormality of the lymph nodes, Anemia, Decreased circulat... ORPHA:85450
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Cerebellar atrophy ORPHA:369939
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Cerebellar vermis hypoplasia, Subc... OMIM:615191
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Dilated fourth ventricle, I... ORPHA:370022
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavio... ORPHA:3077
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Everted lower lip vermilion, Tracheoesophageal f... OMIM:164280
Alg6-Cdg
Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropathy, Hypoalbuminemi... ORPHA:79320
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pancreatic c... OMIM:167800
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Rhombencephalos... OMIM:601853
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Gray matter heterotopia, Cerebellar atrophy, Pachygyria ORPHA:370980
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Ex... ORPHA:1333
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Hsd10 Disease
Tremor, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Beta-Thalassemia Major
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... ORPHA:231214
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Pancreatic fibrosis, Cirrhosis, Hyperechogeni... OMIM:208540
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Ck Syndrome
Slender build, Hyperactivity, Polymicrogyria, Aggressive behavior, Pachygyria, Irritability OMIM:300831
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m... ORPHA:945
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia OMIM:615924
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Hepatic fibrosis, ... OMIM:246200
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Protein-losing enteropathy, Portal hypertension, Hypoalbuminemia,... ORPHA:79319
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Ne... OMIM:150550
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... ORPHA:2298
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Inflammation of the large intestine, Abn... OMIM:181000
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:50918
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Lennox-Gastaut Syndrome
Mental deterioration, Personality disorder, Hyperactivity, Aggressive behavior ORPHA:2382
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, H... OMIM:235255
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Long philtrum, Cholestasis, Elevated circulating creatinine concent... OMIM:608104
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Hiatus hernia, Persistence of primary teeth, Persistence of hemoglobin F... OMIM:619769
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Malabsorption, Neutropenia, Sideroblastic anemia, Exocrine pancreatic insuffi... OMIM:557000
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Impulsivity, Depression, Polymicrogyria, Chorea, Dystonia ORPHA:88616
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation ORPHA:115
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:267700
Infantile Neuroaxonal Dystrophy
Ataxia, Impulsivity, Hyperactivity, Cerebellar gliosis, Mental deterioration, Psychomotor deterio... ORPHA:35069
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Pleural Mesothelioma
Dysphagia, Lymphadenopathy, Hepatomegaly ORPHA:50251
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity, Poor eye contact, Self-biting OMIM:300624
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Depression, Anxiety, Tremor, Cerebellar dysplasia, Overweight ORPHA:457240
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Cholestatic liver disease, H... ORPHA:540
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice ORPHA:858
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Oral ulcer, Pa... OMIM:615122
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Plasminogen Deficiency, Type I
Gingival overgrowth, Periodontitis, Duodenal ulcer, Gingivitis, Decreased level of plasminogen OMIM:217090
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:615960
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... ORPHA:79477
Neurodegeneration With Brain Iron Accumulation 2B
Impulsivity, Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis... OMIM:610217
Igg4-Related Kidney Disease
Sialadenitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Eosinophilia, ... ORPHA:449395
Lig4 Syndrome
Malabsorption, Hepatomegaly, Leukocytosis, Thin vermilion border, Pancytopenia, Cryptorchidism, L... ORPHA:99812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... OMIM:615895
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Agranulocytosi... OMIM:301078
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Luscan-Lumish Syndrome
Anxiety, Shyness, Chiari malformation, Aggressive behavior, Obesity OMIM:616831
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Wide mouth, C... ORPHA:2059
Acquired Hypertrichosis Lanuginosa
Glossitis, Lymphadenopathy, Ovarian neoplasm, Macroglossia ORPHA:2221
Medullary Thyroid Carcinoma
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Lymphadenopathy, Abnorm... ORPHA:1332
Colonic Atresia
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... ORPHA:1198
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Re... ORPHA:424016
Stromme Syndrome
Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Accessory spleen, Jejunal atr... OMIM:243605
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Lack of peer relationships, Tremor, Atte... ORPHA:1942
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis... ORPHA:79303
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Progressive language deterioration, Aggressive behavior, Impaired social i... OMIM:610042
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Hyperactivity, Mental deterioration, Anxiety, Motor deterioration, Aggressive behavior, C... ORPHA:168491
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Fat ma... ORPHA:71
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Vil... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of the large intestine, B lympho... OMIM:614700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Type II lissencepha... OMIM:615181
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Diamond-Blackfan Anemia 6
Cleft upper lip, Increased mean corpuscular volume, Cleft palate, Persistence of hemoglobin F, Bi... OMIM:612561
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Poor eye contact, Cerebellar hypoplasia, Irritability OMIM:615182
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Oligodontia, Protein-losing enteropathy, ... OMIM:618440
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Anaplastic Thyroid Carcinoma
Nodular goiter, Tracheoesophageal fistula, Dysphagia, Goiter, Lymphadenopathy ORPHA:142
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... ORPHA:277
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice ORPHA:99978
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intention tremor, Me... ORPHA:309271
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly... ORPHA:1655
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Decreased proportion of naive T cells, Colitis, Gastritis, Elevated circulating ... OMIM:619381
Fanconi Anemia, Complementation Group F
Duodenal atresia, Decreased response to growth hormone stimulation test, Cryptorchidism, Leukopen... OMIM:603467
Hypoplasminogenemia
Gingival overgrowth, Periodontitis, Duodenal ulcer, Gingivitis, Decreased level of plasminogen, A... ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia OMIM:608840
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Poor eye contact, Hyperactivity, Depression, Anxiety, Attention deficit ... ORPHA:449291
Shwachman-Diamond Syndrome 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancrea... OMIM:617941
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Pancreatic calcification, Jaundice, Abnormality of the... ORPHA:677
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability, Simplified gyral pattern, Enlarged cerebellum OMIM:620047
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia ORPHA:79327
Chronic Granulomatous Disease
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Mediastinal lymphadenopathy... ORPHA:379
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Ataxia, Hyperactivity, Obesity, Inappropriate laughter ORPHA:411515
Optic Atrophy 11
Ataxia, Hyperactivity, Cerebellar hypoplasia, Dysmetria OMIM:617302
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Amelogenesis imperfecta, Thrombocytopenia OMIM:612783
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Progressive cerebellar ataxia, Depression, Anxiety, Chore... ORPHA:485350
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Gray matter heterotopia, Cerebellar atr... OMIM:617622
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Intestinal obstruction, Recurrent aphthous stomatitis, Gastrointestina... ORPHA:343
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormal pancreas morphology, Aceruloplasminemia, H... ORPHA:48818
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simplified gyral ... OMIM:616212
Thyroid Lymphoma
Dysphagia, Goiter, Lymphadenopathy ORPHA:97285
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Chorea, Gait ataxia, Aggressive behavior, Impaired pain sensation, Dy... ORPHA:500180
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior OMIM:300978
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
U-Shaped upper lip vermilion, Abnormal hemoglobin, Gastroesophageal reflux, Macroglossia, Everted... ORPHA:847
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:603553
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Microform Holoprosencephaly
Duodenal atresia, Cleft palate, Short philtrum, Panhypopituitarism, Oral cleft, Solitary median m... ORPHA:280200
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attention deficit hyperacti... ORPHA:1929
47,Xyy Syndrome
Hydrocephalus, Impulsivity, Hyperactivity, Dysgenesis of the cerebellar vermis, Attention deficit... ORPHA:8
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Supernumerary nipple, Macroglossia, Reduced alpha/beta synthesis ratio, Long philtru... OMIM:141750
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Young-Onset Parkinson Disease
Apathy, Impulsivity, Cognitive impairment, Depression, Anxiety, Panic attack, Frontal lobe dement... ORPHA:2828
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Cerebellar atrophy ORPHA:89844
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, Progressive ga... ORPHA:309263
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar ... ORPHA:101070
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Delayed eruption o... ORPHA:811
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Attention deficit hyperactivity d... ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Retrocerebellar cyst, Self-mutilation, Cerebellar hypoplasia, Cerebellar vermis hy... OMIM:300486
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Achalasia, Lymphadenopathy, Aganglionic megacolon ORPHA:3386
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Long philtrum, Downturned corners of mouth, Thin upper ... OMIM:616651
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Self-injurious behavior, Depression, Aggressive behavior, Emotional lability, Obesity... ORPHA:293987
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Duodenal stenosis ORPHA:1759
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia ORPHA:1020
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Fanconi Anemia, Complementation Group B
Duodenal atresia, Tracheoesophageal fistula, Aplastic anemia, Thrombocytopenia, Esophageal atresia OMIM:300514
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron, Villous atrophy OMIM:614602
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Malrotation of small bowel, ... OMIM:601095
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Steatorrhea ORPHA:3217
Periventricular Nodular Heterotopia 1