Gene Summary

Name:
hnRNP-associated with lethal yellow
Synonyms:
Merc

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pancreas morphology Ralyem2(IMPC)Tcp HOM Early adult 0.00
abnormal lung morphology Ralyem2(IMPC)Tcp HOM Early adult 0.00
short tibia Ralyem2(IMPC)Tcp HOM Early adult 7.46×10-07
increased circulating triglyceride level Ralyem2(IMPC)Tcp HOM Early adult 4.00×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Raly 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 Raly by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol... OMIM:232700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Decreased HDL cho... OMIM:607616
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Recurrent aspiration pneumonia, Syndactyly OMIM:300484
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia, Hepatic steatosis ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosple... OMIM:613101
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Recurrent sinusitis, Splenome... OMIM:620282
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Increased cir... OMIM:300635
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Arachnodactyly, Hepatosplenomeg... OMIM:619013
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... OMIM:605814
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle hypertrophy, Hepatic fibrosis, Hepatic steatosis, Polycystic ov... ORPHA:280356
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas ORPHA:1203
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Pancreatitis, Hereditary
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici... OMIM:167800
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, Cryptorchidism, Short... OMIM:607143
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Temple Syndrome
Hypertriglyceridemia, Decreased testicular size, Micrognathia, Clinodactyly, Cryptorchidism, Hype... OMIM:616222
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia OMIM:258865
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis OMIM:177000
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis OMIM:608600
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog... ORPHA:356961
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Splenomegaly, I... OMIM:620603
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Tibial Hemimelia
Absent tibia OMIM:275220
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Calf muscle hypertrophy, Polycystic ovaries, He... ORPHA:435651
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... OMIM:214900
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora... OMIM:620076
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Steatorrhea, Decreased HDL cholesterol concentrati... OMIM:278000
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis OMIM:615238
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Respiratory tract infection, Peri... ORPHA:567548
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Femoral bowing, Short ribs, Short long bone, Acetabular spurs, Postaxial po... OMIM:615503
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:158057
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Polycyst... OMIM:604367
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Perlman Syndrome
Micrognathia, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Abnormal pancreatic duct morphology, Short long bone, Mic... ORPHA:1190
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:79085
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger OMIM:618010
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:363400
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Calf muscle pseudohyp... ORPHA:79083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia ORPHA:364
Smith-Magenis Syndrome
Hypertriglyceridemia, Short palm, Brachydactyly, Pes planus, Hypercholesterolemia OMIM:182290
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Long foot, Hepatomegaly, Cirrhosis, Hypercholesterolemia, Increased C-pepti... ORPHA:528
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Micrognathia, Cryptorchidism, Hepatic steatosis OMIM:615381
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Seckel Syndrome 10
Hypertriglyceridemia, Slender long bone, Acute pancreatitis, Metaphyseal widening, Elevated circu... OMIM:617253
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz... ORPHA:66628
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... ORPHA:314795
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Pancreatic Agenesis 2
Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit... ORPHA:444490
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz... ORPHA:179494
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steat... ORPHA:2348
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Pleural effusion OMIM:603278
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly OMIM:618398
Microtriplication 11Q24.1
Genu valgum, Clinodactyly of the 5th finger, Hyperlipidemia, Metatarsus adductus, Short foot, Tal... ORPHA:289522
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Pleural effusion, Hyponatremia, Micrognathia, Hypomagnesemia,... OMIM:618183
Mandibuloacral Dysplasia
Hypertriglyceridemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Mi... ORPHA:2457
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepatocellular carc... ORPHA:369
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, Tibial bo... OMIM:307800
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Polycysti... ORPHA:435660
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Calf mus... ORPHA:79086
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polysplenia, Polycystic liver disease OMIM:211890
Smith-Magenis Syndrome
Hypertriglyceridemia, Clinodactyly of the 5th finger, Hand polydactyly, Micrognathia, Brachydacty... ORPHA:819
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Hepatosplenomegaly, Recurrent sinopulmonary infections, Splenomegaly, Bronc... OMIM:619802
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Hyperchol... ORPHA:264580
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ulnar deviation of the 3rd finger, Abnormal liver parenchyma morphology, Abnormal foot morphology... ORPHA:456312
Prader-Willi Syndrome
Hypertriglyceridemia, Acromicria, Decreased response to growth hormone stimulation test, Radial d... OMIM:176270
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... OMIM:619418
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplastic spleen, Hypoplasi... OMIM:619313
Feingold Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Deviation of the 2nd finger, Micrognathia, Abno... ORPHA:1305
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Reduced C-peptide l... OMIM:260370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, ... ORPHA:79240
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Pes cavus, Hyperlipidemia, Elevated circulating creatin... OMIM:615980
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal lung lobation, Finger syndactyly, Spli... ORPHA:958
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponat... OMIM:603553
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Osteolytic defects o... ORPHA:280365
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Abnormal foot morphology, Hammertoe, Sandal gap, Hallux valgus, Shoulder di... ORPHA:536532
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Absent... OMIM:615710
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Hypoalbumi... ORPHA:540
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Decreased testicular size, Palmoplantar keratoderma, Palmoplantar hyperhidr... OMIM:610644
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism OMIM:617575
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Abnor... ORPHA:470
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Postaxial hand polydactyly, Micromelia, Pulmona... OMIM:200995
Shwachman-Diamond Syndrome 2
Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, Metaphyseal widening, Exocrine pancreatic ins... OMIM:617941
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Recurrent... OMIM:613327
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
H Syndrome
Hypertriglyceridemia, Recurrent pharyngitis, Camptodactyly, Decreased testicular size, Hepatosple... ORPHA:168569
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Cryptorchidism, Mesomelic leg shortening, Syndactyly, Preaxial hand polydact... OMIM:603671
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:617591
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Steatorrhea, Hepatomegaly, Proximal placement of thumb, Ulnar deviation of the 2nd finger, Long f... OMIM:616263
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Abnormal... ORPHA:77293
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Rocker bottom foot, Annular pancreas, Clinodactyly of the 5th finger, Knee flexion contracture, C... ORPHA:488642
Xp21 Deletion Syndrome
Hypertriglyceridemia, Calf muscle hypertrophy, Finger clinodactyly, Elevated circulating creatine... ORPHA:261476
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly ... OMIM:618162
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co... OMIM:610717
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase ... ORPHA:98907
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Alstrom Syndrome
Polydactyly, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatom... OMIM:203800
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Abnormal pancreas morphology, Decreased circul... ORPHA:48818
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Emphysema, Abnormality of the pulmonary artery, Abnormal intrahepatic bile ... ORPHA:363618
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Jaundice, Large iliac wing, Abnormal pubi... ORPHA:198
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, Hypertriglyceridemia, Hypoparathyroidism, Slender long bone, Upper limb u... ORPHA:369837
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, I... ORPHA:86816
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Trisomy 8P
Abnormal lung lobation, Clinodactyly of the 5th toe, Annular pancreas, Clinodactyly of the 5th fi... ORPHA:264450
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis, Accessory spleen, Upper limb undergrowth, Posta... OMIM:236680
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... ORPHA:1827
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Genu valgum, Osteolytic defects of the phalanges of the hand, Macrovesicula... OMIM:619127
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Alagille Syndrome 1
Hypoplasia of the ulna, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatocellular car... OMIM:118450
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Abnormal pituitary gland mo... ORPHA:64744
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hyperchole... ORPHA:79259
Glycogen Storage Disease Ib
Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia,... OMIM:232220
Bohring-Opitz Syndrome
Deep plantar creases, Hyperechogenic pancreas, Dislocated radial head, Mesomelic/rhizomelic limb ... OMIM:605039
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Elevated circulating C-reactive protein concentration, Recurr... ORPHA:676
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Hyperkalemia, Microvesicular hepatic st... ORPHA:275761
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Campomelia, Cumming Type
Hepatomegaly, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly, Pancreatic c... ORPHA:1318
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Abnormal circulating creatine kinase co... ORPHA:98908
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:79477
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Long foot, Cirrhosis, Hepatomegaly, Acute pancreatitis, Large hands, Spleno... OMIM:608594
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Long foot, Cirrhosis, Hepatomegaly, Acute pancreatitis, Large hands, Spleno... OMIM:269700
19P13.12 Microdeletion Syndrome
Deep plantar creases, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Hyperlipidem... ORPHA:254346
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Flexion contracture ... OMIM:256040
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Jaundice, Hypoproteinemia, Pleural effusion, Hyponatremia, Hepatosplenomega... ORPHA:167
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal femur morphology, Fractures of the long bones, Abnormal spl... ORPHA:464329
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hyperproteinemia, Increased circulating ferriti... ORPHA:158048
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Congenital hip dislocation, Micrognathia, Metaphyseal dysplasia, Exocrin... OMIM:617052
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Long foot, Talipes equinovarus, Slender long bone, Recurrent respiratory in... OMIM:264090
Senior-Loken Syndrome 8
Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Atypical Werner Syndrome
Rocker bottom foot, Hypertriglyceridemia, Osteolytic defects of the phalanges of the hand, Ovaria... ORPHA:79474
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Aplasia/Hypop... ORPHA:90154
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Finger syndactyly, Monorchism, Postaxial hand polydactyly, Split hand, M... ORPHA:2753
Glycerol Kinase Deficiency
Hypertriglyceridemia, Cryptorchidism, Chronic pancreatitis, Hyperglycerolemia OMIM:307030
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pleural effusion, Hyperlipidemia, Respiratory tract infection, Hypoalbuminemia, Pedal edema, Hydr... ORPHA:567546
Meckel Syndrome
Talipes, Accessory spleen, Postaxial hand polydactyly, Bowing of the long bones, Asplenia, Crypto... ORPHA:564
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, C... OMIM:266920
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Short clavicles, Osteolytic defects of the distal phalanges of the hand... OMIM:248370
Jacobsen Syndrome
Annular pancreas, Talipes, Recurrent respiratory infections, Finger syndactyly, Missing ribs, Toe... ORPHA:2308
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hepatomegaly, Recurrent respiratory i... OMIM:218330
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Congenital hip dislocation, Short palm, Micrognathia, Short thumb, Cryptorchidi... OMIM:268400
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Pleural effusion, Spontaneous pneumothorax, Recurrent pancreatitis, Hyperch... OMIM:606721
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Portal hypertension, Pulmonary hypoplasia, Splenomegaly, Hepat... OMIM:263200
Feingold Syndrome 1
Annular pancreas, Accessory spleen, 2-3 toe syndactyly, 4-5 toe syndactyly, Asplenia, Micrognathi... OMIM:164280
Fanconi Anemia, Complementation Group D2
Annular pancreas, Absent radius, Aplasia of the 1st metacarpal, Partial duplication of thumb phal... OMIM:227646
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Chylothorax, Prominent fingertip pads, Camptodac... OMIM:229850
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Aplasia/H... ORPHA:90153
Alveolar Echinococcosis
Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Biliary cirrhosis, Abnormal pel... ORPHA:284
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Finger syndactyly, Hypoplasia of t... ORPHA:110
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Short ph... OMIM:608612
Distal Deletion 12Q
Long foot, Annular pancreas, Clinodactyly of the 5th finger, Biliary atresia, 2-3 toe syndactyly,... ORPHA:96149
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Missing ribs, Micrognathia, Brachydactyly, Recu... OMIM:147791
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Abnormal femoral head morphology, Hyperlipidemia, Hypoplastic pelvis, Shallow aceta... ORPHA:1830
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct morphology, Jaund... ORPHA:731
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Steatorr... ORPHA:699
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Aapoaiv Amyloidosis
Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasm... ORPHA:157
Glycogen Storage Disease Ic
Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli... OMIM:232240
Aromatase Deficiency
Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hyperlipidemia, Enlar... ORPHA:91
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:228308
Schinzel-Giedion Syndrome
Annular pancreas, Hypoplastic pubic bone, Tibial bowing, Camptodactyly, Micrognathia, Recurrent p... ORPHA:798
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Macronodular cirrhosis, Exocrine pancreatic insuff... OMIM:557000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Hyperlipidemia, Primary hyperparathyroidism, Pituitary adenoma,... ORPHA:189427
Glycogen Storage Disease Ia
Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia OMIM:232200
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Increased circulatin... ORPHA:3455
Familial Multiple Lipomatosis
Hyperlipidemia, Bowing of the long bones ORPHA:199276
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pan... OMIM:137920
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... OMIM:610199
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Annular pancreas, Pleural effusion, Pulmonary artery dilatation, Asplenia... OMIM:265380
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hyper... ORPHA:93111
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoamylasemia, Pancreatic aplasia, Aplasia/Hypoplasia of the phalanges of the thumb, Absent gall... ORPHA:556955
Charge Syndrome
Hypoplasia of the ulna, Decreased response to growth hormone stimulation test, Hypoparathyroidism... OMIM:214800
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Metacarpophalangeal joint contracture, Micrognathia, Recurrent ... ORPHA:97297
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Ulbright-Hodes Syndrome
Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradi... ORPHA:3404
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Pheochromocyto... OMIM:193300
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Hyperlipidemia, Elevated circulating creatine kinase concentration, S... ORPHA:565612
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Hip dysplasia, Crypto... OMIM:616975
1P36 Deletion Syndrome
Annular pancreas, Clinodactyly of the 5th finger, 11 pairs of ribs, Lower limb asymmetry, Foot po... ORPHA:1606
Beckwith-Wiedemann Syndrome
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Exocrine pancreatic insuffi... ORPHA:116
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Alström Syndrome
Hypertriglyceridemia, Hyperlipidemia, Recurrent sinusitis, Splenomegaly, Hepatic steatosis, Short... ORPHA:64
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Abnormal femur morphology, Emphysema ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Recurrent lower respiratory tract infectio... ORPHA:293987
Woodhouse-Sakati Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test, Streak ovary, H... ORPHA:3464
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia OMIM:241080
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665

Histopathology

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

There is no histopathology data for Raly

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Ralyem2(IMPC)Tcp Exon Deletion Mice, Tissue

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