banner
Genes Phenotypes Help, News, Blog

Gene: Raly MGI:97850

Log in to follow

Gene Summary

Name:
hnRNP-associated with lethal yellow
Synonyms:
Merc

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 pancreas morphology Ralyem2(IMPC)Tcp HOM Early adult 0.00
increased circulating triglyceride level Ralyem2(IMPC)Tcp HOM Early adult 4.00×10-05
abnormal lung morphology Ralyem2(IMPC)Tcp HOM Early adult 0.00
short tibia Ralyem2(IMPC)Tcp HOM Early adult 7.46×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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.

Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Eye Morphology

Images Ophthalmoscopy

5 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View 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
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Glycogen Storage Disease Vi
Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H... OMIM:232700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased HDL choles... OMIM:607616
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... 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
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly OMIM:300484
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Micrognathia, Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... OMIM:615703
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Hepat... OMIM:613101
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Recurrent sinusitis, Hypertriglyceridemia, Recurrent lower respiratory tract infect... OMIM:620282
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice ORPHA:75234
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... OMIM:612526
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Arachnodactyly, Hypertri... OMIM:619013
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries, Calf muscle hypertrophy, Hypertriglyceri... ORPHA:280356
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery ORPHA:1203
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Short tibia, Sanda... OMIM:607143
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Temple Syndrome
Small hand, Clinodactyly, Decreased testicular size, Micrognathia, Cryptorchidism, Hypercholester... OMIM:616222
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Jaundice, Foot polydactyly, Polycystic liver disease, Bile duct prolifera... OMIM:208500
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia OMIM:258865
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia OMIM:177000
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... ORPHA:139507
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, R... OMIM:620603
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Tibial Hemimelia
Absent tibia OMIM:275220
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Calf muscle hypertrophy, Hypertriglyceridemi... ORPHA:435651
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Respiratory tract infection, Peritonit... ORPHA:567548
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:613027
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c... OMIM:609441
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxi... OMIM:615503
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchid... OMIM:616300
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat... ORPHA:247585
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... ORPHA:158057
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Hepatic fibrosis, Postaxial polysyndactyly of foot, Preaxial hand polyd... OMIM:263520
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Hypertriglyceridemia, Cirrhosis, Decreased ... OMIM:604367
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Perlman Syndrome
Hepatomegaly, Micrognathia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Atelosteogenesis Type I
Rhizomelia, Pulmonary hypoplasia, Abnormal pancreatic duct morphology, Micrognathia, Talipes equi... ORPHA:1190
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Hypertriglyceridemia OMIM:618010
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:363400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia ORPHA:364
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Cryptorchidism, Short hume... OMIM:258315
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Splenomegaly, Cirrhosis, Pancreatitis, Hype... ORPHA:79083
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o... ORPHA:3035
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Smith-Magenis Syndrome
Pes planus, Hypercholesterolemia, Brachydactyly, Hypertriglyceridemia, Short palm OMIM:182290
Congenital Generalized Lipodystrophy
Long foot, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Large hands, H... ORPHA:528
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Pancreatic Agenesis 2
Steatorrhea, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Micrognathia, Hepatic steatosis, Cryptorchidism, Hypertriglyceridemia, Hepatomegaly OMIM:615381
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy... ORPHA:412
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Cone-shaped epiphysis, Microretrognathia, Slender... OMIM:617253
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased testicular size, Hypoplasia of the ovary,... ORPHA:66628
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypoplasia, Short ri... OMIM:617925
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased testicular size, Hypoplasia of the ovary,... ORPHA:179494
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Pleural effusion OMIM:603278
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Microtriplication 11Q24.1
Small hand, Genu valgum, Hyperlipidemia, Talipes equinovarus, Metatarsus adductus, Clinodactyly o... ORPHA:289522
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Cirrhosis,... ORPHA:369
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Abnormal spleen morphology, Abnormal lung morphology, Aplasia/H... ORPHA:2470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Micrognathia, Short clavicles, Acroosteolysis of dis... ORPHA:2457
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Hypomagnesemia, Micrognathia, Pleu... OMIM:618183
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Elevated circulating creatine kinase concentration, Hypert... ORPHA:435660
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hyper... ORPHA:79086
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Hand polydactyly, Pes planus, Hypercholesterolemia, Brachydactyly, ... ORPHA:819
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Increased hepatic glycogen content, Bowing of the long bones, ... ORPHA:2088
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Bronchiolitis obl... OMIM:619802
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Elevated circula... ORPHA:264580
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomeg... ORPHA:158061
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Foot joint contracture, Abnormal foot morphology, Talipes equinovalgu... ORPHA:456312
Prader-Willi Syndrome
Small hand, Radial deviation of finger, Clinodactyly, Decreased HDL cholesterol concentration, De... OMIM:176270
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Pes cavus, Hyperlipidemia, Hepatic steatosis, Elevated ... OMIM:615980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Microretrognathia, Polysplenia, Exocrine pancreatic ... OMIM:619418
Feingold Syndrome
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Microgn... ORPHA:1305
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypoplastic spleen, Increased circulating ferritin concentration, Hyper... OMIM:619313
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hyporeflexia of lower limbs, Increased LDL cholesterol concentration, Elevated circulating creati... ORPHA:98855
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase concentr... ORPHA:79240
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Reduced C-peptide level, Pancreatic hypoplasia, Pancreatic apl... OMIM:260370
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Abnormal lung lobation, Micrognathia... ORPHA:958
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hepatos... OMIM:603553
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Micrognathia, Hepatic steatosis, Splenomegaly, Polycysti... ORPHA:280365
Classical-Like Ehlers-Danlos Syndrome Type 2
Sandal gap, Knee dislocation, Abnormal foot morphology, Micrognathia, Equinus calcaneus, Hypertri... ORPHA:536532
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbladder, Bil... OMIM:615710
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Decreased testicular size, Palmoplantar hyperhidrosis, Hypercholesterol... OMIM:610644
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Increased circulating ferritin concentration, Splenom... ORPHA:540
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Reni Syndrome
Hypoalbuminemia, Cryptorchidism, Hypertriglyceridemia OMIM:617575
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... ORPHA:470
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Metaphyseal widening, S... OMIM:617941
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Micromelia, Polysplenia, Pancreatic fibrosis, Postaxial hand polydactyly, Hepat... OMIM:200995
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes, Talipes equinovarus, Aplas... OMIM:108720
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase concen... OMIM:613327
H Syndrome
Decreased testicular size, Hepatosplenomegaly, Hypertriglyceridemia, Hallux valgus, Pes planus, R... ORPHA:168569
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Hepatic s... OMIM:616263
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd... OMIM:603671
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Finger swelling, Splenomegaly, Hypertriglyceridemia OMIM:617591
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Microretrognathia, Rocker bottom foot, Clinodactyly, Annular pancreas, Overlapping to... ORPHA:488642
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas, Irregular epiphyses, Delayed pubic bone ossification, Knee flexion ... OMIM:618162
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Finger clinodactyly,... ORPHA:261476
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... ORPHA:77293
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase conce... OMIM:610717
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Hy... ORPHA:98907
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Decreased HDL ... OMIM:151660
Alstrom Syndrome
Recurrent pneumonia, Decreased HDL cholesterol concentration, Decreased response to growth hormon... OMIM:203800
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery, Abnormal intrahepatic bile duct morphology, Hyper... ORPHA:363618
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Recurrent lower respiratory tract infectio... ORPHA:86816
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Absent nipple, Rudimentary fibula, Micrognathia, Rudimentar... OMIM:200980
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Cryptorchidism... OMIM:164745
Occipital Horn Syndrome
Aplastic clavicle, Hepatitis, Cholestasis, Humerus varus, Genu valgum, Avascular necrosis of the ... ORPHA:198
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Slender long bone, Abnormal lung lobation, Upper limb undergrowth, Micrognathia, Hypertriglycerid... ORPHA:369837
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Hepatic steatosis, Portal hypertension, Splenom... ORPHA:567983
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Trisomy 8P
Short fifth metatarsal, Recurrent upper respiratory tract infections, Peripheral pulmonary artery... ORPHA:264450
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Abnormal lung lobation, Micr... OMIM:236680
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... OMIM:211350
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... ORPHA:1827
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Decreased fibular diameter, Dysplasia of the femoral head, Micrognathia, Genu valgum,... OMIM:619127
Alagille Syndrome 1
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Cholestasis, Exocrine pancr... OMIM:118450
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Pancreatic fibrosis... ORPHA:64744
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Increased hepa... ORPHA:79259
Bohring-Opitz Syndrome
Short toe, Deep plantar creases, Supernumerary nipple, Overlapping toe, Micrognathia, Mesomelic/r... OMIM:605039
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Pancreatic fibrosis, Hepa... OMIM:232220
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop... OMIM:228520
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Pancreatic calcification, Recurrent pancre... ORPHA:676
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Microvesicular hepatic steatosi... ORPHA:275761
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Hepatomegaly, Pancreatic c... ORPHA:1318
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Hepatic steatosis, Chol... ORPHA:98908
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Sandal gap, Deep plantar creases, Finger syndactyly, Hyperlipidemia, Cryptorchi... ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 1
Long foot, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Large hands, Hypertrig... OMIM:608594
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Cryptorchidism, Fibular hypoplasia, Short rib... ORPHA:3144
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Lipodystrophy, Congenital Generalized, Type 2
Long foot, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Large hands, Hypertrig... OMIM:269700
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Recurrent upper respiratory tract infections, Camptodactyl... OMIM:256040
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Pleural effusion, Splenomegaly,... ORPHA:167
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Gaisböck Syndrome
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre... ORPHA:90041
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphol... ORPHA:464329
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, H... ORPHA:158048
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Exocrine pancreatic insufficiency, Micrognathia, Cryptorchidism, Hype... OMIM:617052
Immunodeficiency 87 And Autoimmunity
Cholestasis, Pleural effusion, Hepatic steatosis, Hypokalemia, Hepatomegaly, Hypertriglyceridemia... OMIM:619573
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Hyperlipidemia, Apla... ORPHA:90154
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Hypoplastic ilia, Clinodactyly, Slender long bone, Long foot, Micrognathia, Hypertrigl... OMIM:264090
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts, Polydactyly OMIM:616307
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Atypical Werner Syndrome
Neoplasm of the lung, Finger clinodactyly, Micrognathia, Hypertriglyceridemia, Abnormality of the... ORPHA:79474
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Pleural effusion, Respiratory tract infection, Hydrocele testis,... ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Micrognathia, Hyperlipidemia, Down-sloping shoulders, Short clavi... OMIM:248370
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Pulmonary hypoplasia, Finger syndactyly, Micromelia, Preaxial ha... ORPHA:2753
Glycerol Kinase Deficiency
Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Hypertriglyceridemia OMIM:307030
Meckel Syndrome
Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Micrognathia, Cryptorchi... ORPHA:564
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg... OMIM:266920
Jacobsen Syndrome
Toe clinodactyly, Toe syndactyly, Annular pancreas, Finger syndactyly, Short toe, Long hallux, Cr... ORPHA:2308
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Short distal phalanx of finger, Rhizomelia, Hepatic fib... OMIM:218330
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Micrognathia, Cryptorchidi... OMIM:268400
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Meckel Syndrome, Type 7
Postaxial foot polydactyly, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertensi... OMIM:267010
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Pleural effusion, Pulmonary arteriovenous malformation, Recurrent pancr... OMIM:606721
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Breast aplasia, Hyperlipidemia, Aplasia/Hypoplasia of the clavicl... ORPHA:90153
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Hyperlipidemia, Short clavicles, Acroosteolysis of distal phalanges (feet), Osteoly... OMIM:608612
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Short thumb, Short toe, Polysplenia, Micrognathia, 2-3 toe sy... OMIM:164280
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Annular pancreas, Preaxial hand polydactyly, Partial duplication of th... OMIM:227646
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Hypoplastic pelvis, Hyperlipidemia, Abnormal femoral head morphology, ... ORPHA:1830
Fryns Syndrome
Short distal phalanx of finger, Microretrognathia, Chylothorax, Short thumb, Prominent fingertip ... OMIM:229850
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cy... ORPHA:284
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Hepatic fibrosis, Finger syndactyly, Decreased testicul... ORPHA:110
Distal Deletion 12Q
Annular pancreas, Broad hallux, Pituitary adenoma, Long foot, Unilateral cryptorchidism, Overlapp... ORPHA:96149
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Jacobsen Syndrome
Annular pancreas, Micrognathia, Cryptorchidism, Missing ribs, Brachydactyly, Clinodactyly of the ... OMIM:147791
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Micrognathia, Hypersplenism, Congenital hepatic fibrosis, Increa... ORPHA:731
Aapoaiv Amyloidosis
Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Pearson Syndrome
Hypomagnesemia, Decreased response to growth hormone stimulation test, Exocrine pancreatic insuff... ORPHA:699
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Glycogen Storage Disease Ic
Recurrent upper respiratory tract infections, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, ... OMIM:232240
Aromatase Deficiency
Delayed epiphyseal ossification, Genu valgum, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, ... ORPHA:91
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma OMIM:232200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Macronodular adrenal... ORPHA:189427
Familial Multiple Lipomatosis
Bowing of the long bones, Hyperlipidemia ORPHA:199276
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hyperbilirubinemia, Hepatomegaly, Macronodular cirrhosis, Panc... OMIM:557000
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Recurrent pneumonia, Short 1st metacarpal, Annular pancreas, Over... ORPHA:798
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Increased circulating prolactin concentration, Camptodactyly of finger, Decreas... ORPHA:3455
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated circulating creatinine concent... OMIM:137920
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Annular pancreas, Abnormal lung lobation, Alveolar capillary dysplas... OMIM:265380
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Hyperuricemia, Aplasia/Hypoplasia... ORPHA:93111
Charge Syndrome
Bifid femur, Parathyroid hypoplasia, Short thumb, Decreased response to growth hormone stimulatio... OMIM:214800
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoamylasemia, Absent gallbladder, Reduced C-peptide level, Aplasia/Hypoplasia of the phalanges ... ORPHA:556955
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Recurrent respiratory infections, Micrognathia, Metacarpophalan... ORPHA:97297
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Ulbright-Hodes Syndrome
Pulmonary hypoplasia, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradi... ORPHA:3404
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, A... ORPHA:565612
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pulmonary capillary hemangiomatosis, Hepatic hemangioma, Pancreatic cysts, Neop... OMIM:193300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Micrognathia, Cryptorchidism, Hip dysplasia, Clinodactyly of the 5th finger, Sy... OMIM:616975
1P36 Deletion Syndrome
Lower limb asymmetry, Annular pancreas, Camptodactyly of finger, Abnormality of the spleen, 11 pa... ORPHA:1606
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Pseudohypoparath... ORPHA:116
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Alström Syndrome
Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, Pes planus, Cirrh... ORPHA:64
Fabry Disease
Emphysema, Abnormal femur morphology, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Increased circulating prolactin concentration, Decr... ORPHA:293987
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter