Gene Summary

Name:
embigin
Synonyms:
Gp70

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
preweaning lethality, incomplete penetrance Embtm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal liver morphology Embtm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Human diseases caused by Emb 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 Emb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia OMIM:613124
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypoplasia OMIM:619003
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Intrauterine growth retardation, Elevated circulating alkaline phosphatase concentration OMIM:616917
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Nphp3-Related Meckel-Like Syndrome
Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia ORPHA:3032
Renal Tubular Dysgenesis
Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia ORPHA:3033
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Oligohydramnios, Postnatal growth retardation, Pulmonary hypoplasia OMIM:616733
Lethal Congenital Contracture Syndrome 1
Edema, Neonatal death, Pulmonary hypoplasia OMIM:253310
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Pulmonary hypoplasia OMIM:614096
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase OMIM:618879
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Elevated circulating alkaline phosphatase concentration, Elevat... OMIM:613489
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Growth delay, Fatal liver failure in inf... ORPHA:263501
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Ascites OMIM:174050
Hypophosphatasia, Childhood
Short stature, Low alkaline phosphatase OMIM:241510
Cholestasis-Lymphedema Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:214900
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:329475
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia, Edema ORPHA:93296
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:615198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Elevated circulating alkaline phosphatase concentration, Abnormality of alkaline phosphatase leve... OMIM:620375
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Growth delay, Polyhydramnios, Elevated circulating alkaline phosphatase concentration OMIM:616809
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:122860
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Disproportionate short-limb short stature, Low alkaline phosphatase, ... OMIM:241500
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Pulmonary hypoplasia OMIM:616867
Thanatophoric Dysplasia
Polyhydramnios, Disproportionate short-limb short stature, Increased nuchal translucency, Pulmona... ORPHA:2655
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:312150
Lethal Congenital Contracture Syndrome Type 1
Short stature, Polyhydramnios, Pulmonary hypoplasia ORPHA:1486
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Elevated circulati... ORPHA:330001
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine a... OMIM:619658
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Recurrent respiratory infections, Hydrops fetalis, Pulmonary hypoplasia OMIM:255320
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:253290
Serkal Syndrome
Growth delay, Oligohydramnios, Pulmonary hypoplasia ORPHA:139466
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death, Pulmonary hypoplasia, Oligohydramnios OMIM:236500
Tafro Syndrome
Pleural effusion, Ascites, Increased circulating lactate dehydrogenase concentration, Anasarca, E... ORPHA:457077
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Eleva... OMIM:617093
Primary Pulmonary Hypoplasia
Pneumothorax, Pulmonary hypoplasia, Intrauterine growth retardation, Recurrent respiratory infect... ORPHA:2257
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Facial edema, Polyhydramnios, Pulmonary hypoplasia ORPHA:86822
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia ORPHA:994
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia OMIM:256050
Cystic Echinococcosis
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal subpleural morphology... ORPHA:400
Vitamin D-Dependent Rickets, Type 3
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:619073
Renal Tubular Dysgenesis
Oligohydramnios, Pulmonary hypoplasia OMIM:267430
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Elevated circulating hepatic transaminase concentration, Pleural empyema, Pleural e... ORPHA:67
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Pulmonary hypoplasia, Intrauterine gr... OMIM:616897
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Oligohydramnios OMIM:615415
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Xq12-Q13.3 Duplication Syndrome
Short stature, Recurrent upper respiratory tract infections, Low alkaline phosphatase ORPHA:314389
Thanatophoric Dysplasia, Type I
Polyhydramnios, Disproportionate short-limb short stature, Neonatal death, Pulmonary hypoplasia, ... OMIM:187600
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Abnormality of alkaline phosphatase level OMIM:618010
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Respiratory infections in early life, Pulmonary hypoplasia, Intraut... ORPHA:96179
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Disproportionate short-limb short stature ORPHA:85166
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating hepatic transaminase concentration, Peau d'orange, Growth delay, Elevated ga... OMIM:614576
Glycosylphosphatidylinositol Biosynthesis Defect 25
Short stature, Low alkaline phosphatase OMIM:619985
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3035
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia OMIM:263210
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Oligohydramnios, Neonatal death, Pulmonary hypoplasia OMIM:251230
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ... ORPHA:79303
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Severe short stature, Disproportionate short-limb short sta... OMIM:224410
Tonne-Kalscheuer Syndrome
Short stature, Pulmonary hypoplasia, Growth delay OMIM:300978
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration OMIM:239100
Trichorhinophalangeal Syndrome, Type I
Short stature, Recurrent respiratory infections, Abnormality of alkaline phosphatase level, Growt... OMIM:190350
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Matthew-Wood Syndrome
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Specific Granule Deficiency 1
Recurrent pneumonia, Low neutrophil alkaline phosphatase OMIM:245480
Pallister-Hall-Like Syndrome
Short stature, Pulmonary hypoplasia OMIM:241800
Alg3-Cdg
Decreased liver function, Pulmonary hypoplasia, Abnormal circulating enzyme concentration or acti... ORPHA:79321
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration OMIM:174810
Renal Hypodysplasia/Aplasia 1
Oligohydramnios, Pulmonary hypoplasia OMIM:191830
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ascites, Neonatal death, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Intraut... OMIM:608013
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Elevated circu... OMIM:619484
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Stillbirth, Polyhydramnios, Rhizomelia, Pulmonary hypoplasia OMIM:151210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:615716
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Neonatal death, Pulmonary hypoplasia OMIM:314390
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elev... OMIM:235555
Nephronophthisis 2
Oligohydramnios, Pulmonary hypoplasia OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Portal hypertension, Neonatal death, Pulmonary hypoplasia, Oligohydramnios OMIM:263200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Growth delay, Peripheral pulmonary artery stenosis, Elevated circulating alkaline phosphatase con... OMIM:614749
Gorham-Stout Disease
Edema, Elevated alkaline phosphatase of bone origin, Pleural effusion ORPHA:73
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia ORPHA:171430
Diaphanospondylodysostosis
Increased nuchal translucency, Pulmonary hypoplasia, Disproportionate short-trunk short stature, ... OMIM:608022
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Pulmonary artery atresia, Short stature, Neonatal death, Agenesis of pul... OMIM:601186
Agnathia-Otocephaly Complex
Polyhydramnios, Pulmonary hypoplasia OMIM:202650
Cholesteryl Ester Storage Disease
Portal hypertension, Reduced lysosomal acid lipase activity, Increased circulating lactate dehydr... OMIM:278000
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution computed tomog... ORPHA:85443
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Oligohydramnios, Hydrops fetalis, Pulmonary hypoplasia OMIM:617022
1Q41Q42 Microdeletion Syndrome
Short stature, Pulmonary hypoplasia, Growth delay ORPHA:250999
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Odontochondrodysplasia 1
Short stature, Recurrent respiratory infections, Pulmonary hypoplasia, Mesomelic short stature OMIM:184260
Camurati-Engelmann Disease, Type 2
Delayed puberty, Elevated circulating alkaline phosphatase concentration OMIM:606631
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Macular edema, Elevated circulating alkaline phosphatase concentration, Elevated gamma... ORPHA:247691
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Acute hepatitis, Chronic hepat... ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration,... OMIM:601847
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspar... ORPHA:79302
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Oligohydramnios, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:958
Aggressive Systemic Mastocytosis
Decreased liver function, Elevated total serum tryptase, Ascites, Portal hypertension, Elevated c... ORPHA:98850
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of hepatic... ORPHA:100085
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Elevated circulating alkaline phosphatase concentration ORPHA:52430
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:193100
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Atelectasis, Ascites, Neonatal death, Pulmonary hypoplasia, Intrauterine growth r... OMIM:269860
Raine Syndrome
Pulmonary hypoplasia, Neonatal death, Elevated circulating alkaline phosphatase concentration, Sh... OMIM:259775
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Polyhydramnios, Ascites, Intra... OMIM:617156
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration OMIM:605479
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia OMIM:618316
Bile Acid Synthesis Defect, Congenital, 3
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Elev... OMIM:613812
Achondrogenesis, Type Ia
Stillbirth, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Pulmonary hypoplasia,... OMIM:200600
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Oligohydramnios, Pulmonary hypoplasia OMIM:616866
Marden-Walker Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hypoplasia OMIM:248700
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pulmonary hypoplasia, Neonatal death OMIM:231680
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Elevated alkaline phosphatase of bone origin, Elevated circulating h... OMIM:616828
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Polyhydramnios, Pulmonary hypoplasia OMIM:615503
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hydrops fetalis, Pulmonary hypoplasia, Ascites OMIM:614091
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Polyhydramnios, Pulmonary hypoplasia ORPHA:1190
Calvarial Doughnut Lesions With Bone Fragility
Elevated circulating alkaline phosphatase concentration, Severe short stature OMIM:126550
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Elevated circulating alkaline phosphatase concentration OMIM:620366
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine a... OMIM:619662
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:613312
Epiphyseal Chondrodysplasia, Miura Type
Elevated alkaline phosphatase of bone origin OMIM:615923
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration ORPHA:210110
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... ORPHA:69665
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Ascites, Growth delay, Recurrent pneumonia, Pulmonary hypoplasia, Periorb... OMIM:613177
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Pulmonary hypoplasia, Severe short stature ORPHA:1865
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Elevated circulating alkaline phosphatase concentration ORPHA:89937
Kagami-Ogata Syndrome
Polyhydramnios, Pulmonary hypoplasia OMIM:608149
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Growth delay, Elevated circulating a... ORPHA:2088
Teebi Hypertelorism Syndrome 1
Short stature, Pulmonary hypoplasia OMIM:145420
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration OMIM:615422
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin OMIM:167320
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Dehydration, Aspiration pneumonia, Incre... ORPHA:94093
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Jaundice, Elevated circulating alanine aminotransferase concentration, Increased... OMIM:614866
Vacterl With Hydrocephalus
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia ORPHA:3412
Renal Agenesis, Bilateral
Oligohydramnios, Pulmonary hypoplasia ORPHA:1848
Hyperphosphatasia-Intellectual Disability Syndrome
Growth delay, Oligohydramnios, Elevated circulating alkaline phosphatase concentration ORPHA:247262
Meckel Syndrome 14
Pneumothorax, Oligohydramnios, Pulmonary hypoplasia, Increased nuchal translucency OMIM:619879
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration OMIM:600785
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:241530
Caroli Disease
Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration, Asci... ORPHA:53035
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Pulmonary sequestration, Pulmonary artery hypoplasia, Abnormal l... ORPHA:185
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:612530
Achondroplasia
Neonatal short-limb short stature, Rhizomelia, Polyhydramnios, Pulmonary hypoplasia OMIM:100800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Elevated circulating alkaline phosphatase concentration, Elevated circulating hepa... OMIM:616026
Meacham Syndrome
Stillbirth, Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Neonatal death... OMIM:608978
Fanconi-Bickel Syndrome
Postnatal growth retardation, Intrahepatic cholestasis, Elevated circulating alanine aminotransfe... OMIM:227810
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Hydrops fetalis, Rhizomelia, Polyhydramnios, Disproportionate... OMIM:215140
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:277440
Renal-Hepatic-Pancreatic Dysplasia 1
Oligohydramnios, Neonatal death, Pulmonary hypoplasia, Portal hypertension OMIM:208540
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... ORPHA:263455
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Growth del... OMIM:605814
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Renal Agenesis
Oligohydramnios, Pulmonary hypoplasia ORPHA:411709
Fanconi Renotubular Syndrome 1
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:134600
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Ascites, Extrapulmonary lobar sequestration OMIM:200995
Lathosterolosis
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:607330
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration OMIM:167250
Hypophosphatasia, Adult
Low alkaline phosphatase OMIM:146300
Congenital Myopathy 17
Pulmonary hypoplasia, Polyhydramnios, Respiratory tract infection OMIM:618975
Osteogenesis Imperfecta, Type Xi
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:610968
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Gallbladder Disease 1
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:600803
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Dehydration ORPHA:2260
Developmental And Epileptic Encephalopathy 80
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:618580
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated gamma-glutamyltransfe... OMIM:613095
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Pleural effusion, Ascites, Pulmonary hypoplasia, Nonimmune hydrops fetalis OMIM:620369
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Stillbirth, Pulmonary hypoplasia, Mild intrauterine growth retardation OMIM:308050
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, Low alkaline phosphatase ORPHA:369837
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia ORPHA:2671
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Elevated alkaline phosphatase of bone origin, Postnatal growth retardation, Elevat... ORPHA:289157
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Autosomal Recessive Multiple Pterygium Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Short stature ORPHA:2990
Lethal Congenital Contracture Syndrome 9
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia OMIM:616503
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration OMIM:135100
Mosaic Trisomy 1
Pulmonary hypoplasia, Polyhydramnios, Pulmonary artery atresia, Increased nuchal translucency ORPHA:1692
Mosaic Trisomy 16
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Fetal Akinesia Deformation Sequence 1
Stillbirth, Polyhydramnios, Increased nuchal translucency, Nonimmune hydrops fetalis, Pulmonary h... OMIM:208150
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... OMIM:259700
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Polyhydramnios, Rhizomelia, Hydrops fetalis, Pulmonary hypoplasia ORPHA:50945
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Genitopatellar Syndrome
Short stature, Pulmonary hypoplasia ORPHA:85201
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Short stature, Pulmonary hypoplasia, Intrauterine growth r... OMIM:601559
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:307800
Isolated Biliary Atresia
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:30391
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Low alkaline phosphatase OMIM:201100
Craniometadiaphyseal Dysplasia
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:269300
Atelosteogenesis Type Ii
Rhizomelia, Polyhydramnios, Pulmonary hypoplasia, Rhizomelic arm shortening ORPHA:56304
Absence Of The Pulmonary Artery
Pulmonary edema, Growth delay, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurre... ORPHA:980
Metaphyseal Chondrodysplasia, Jansen Type
Elevated circulating alkaline phosphatase concentration, Severe short stature OMIM:156400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:614207
Osteogenesis Imperfecta, Type Vi
Elevated circulating alkaline phosphatase concentration OMIM:613982
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Dehy... ORPHA:275761
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:619148
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Atelectasis, Repeated pneumothoraces, Pulmonary hypoplasia, Oligohy... ORPHA:536467
Parenteral Nutrition-Associated Cholestasis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:567983
Primary Biliary Cholangitis
Jaundice, Elevated circulating alkaline phosphatase concentration, Ascites, Portal hypertension, ... ORPHA:186
Developmental And Epileptic Encephalopathy 95
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase OMIM:618143
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Rhizomelia, Pulmonary hypoplasia OMIM:616300
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P... ORPHA:3384
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Oligohydramnios, Pulmonary hypoplasia OMIM:200980
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Elevated circulating alkaline phosphatase concentration OMIM:239300
Mckusick-Kaufman Syndrome
Edema, Pulmonary hypoplasia, Pedal edema OMIM:236700
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:239000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia OMIM:616546
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ... ORPHA:247598
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Recurrent respiratory infections, Jaundice, Pulmonary hypoplasia OMIM:208500
Congenital Disorder Of Glycosylation, Type Iiaa
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated circulating as... OMIM:620454
Eiken Syndrome
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:600002
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine aminotransf... OMIM:280000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Atelectasis, Pulmonary artery atresia, Short stature, Pulmonary hypoplasia, Cere... OMIM:620371
Fryns Syndrome
Polyhydramnios, Pulmonary hypoplasia ORPHA:2059
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Ascites, Portal hypertension, Spontaneous pneumothorax, Growth delay, Oligohydramnios, ... ORPHA:731
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Pulmonary hypoplasia OMIM:614080
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Polyhydramnios, Elevated circulating alkaline phosphatase concentration OMIM:618268
Esophageal Atresia
Polyhydramnios, Bronchitis, Growth delay, Pulmonary hypoplasia, Recurrent respiratory infections ORPHA:1199
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Elevated circulating alkaline phosphatase concentration OMIM:618590
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Severe postnatal growth retardation, Por... OMIM:620005
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Growth delay, Pulmonary hypoplasia, Severe short stature, Intrauterine g... ORPHA:2753
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration OMIM:602080
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Elevated circulating alkaline phosphatase concentration OMIM:618188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Oligohydramnios, Pulmonary hypoplasia OMIM:619351
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Oligohydramnios, Pulmonary hypoplasia OMIM:271520
Restrictive Dermopathy 1
Stillbirth, Polyhydramnios, Neonatal death, Pulmonary hypoplasia, Intrauterine growth retardation... OMIM:275210
Biliary, Renal, Neurologic, And Skeletal Syndrome
Jaundice, Polyhydramnios, Recurrent lower respiratory tract infections, Ascites, Elevated circula... OMIM:619534
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Polyhydramnios, Elevated circulating alkaline phosphatase concentration OMIM:618548
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona... ORPHA:99050
Peroxisome Biogenesis Disorder 1A (Zellweger)
Prolonged neonatal jaundice, Pulmonary hypoplasia OMIM:214100
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Oligohydramnios, Pulmonary hypoplasia ORPHA:1112
Tarp Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2886
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... ORPHA:84081
Alg9-Cdg
Abnormal lung lobation, Hydrops fetalis, Rhizomelia, Pericardial effusion, Pulmonary hypoplasia, ... ORPHA:79328
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Neu-Laxova Syndrome 1
Stillbirth, Polyhydramnios, Generalized edema, Neonatal death, Pulmonary hypoplasia, Intrauterine... OMIM:256520
Primary Sclerosing Cholangitis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase ... ORPHA:171
Oncogenic Osteomalacia
Elevated circulating alkaline phosphatase concentration ORPHA:352540
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Elevated alkaline phosphatase of bone origin, Growth delay ORPHA:157215
Combined Oxidative Phosphorylation Deficiency 58
Elevated circulating alkaline phosphatase concentration OMIM:620451
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Distal Deletion 15Q
Postnatal growth retardation, Short stature, Growth delay, Pulmonary hypoplasia, Intrauterine gro... ORPHA:1596
Multiple Pterygium Syndrome, Escobar Variant
Short stature, Hydrops fetalis, Pulmonary hypoplasia OMIM:265000
Ogden Syndrome
Postnatal growth retardation, Pulmonary edema, Jaundice, Lymphedema, Pulmonary artery stenosis, S... OMIM:300855
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery hypoplasia OMIM:620025
Pagod Syndrome
Abnormality of the pulmonary artery, Pulmonary hypoplasia, Short stature, Pulmonary artery hypopl... ORPHA:991
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Polyhydramnios, Rhizomelia, Increased nuchal translucency, Short stature,... ORPHA:818
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elevated circulating alkaline phosphatase concentration OMIM:618162
Fibrous Dysplasia Of Bone
Short stature, Elevated circulating alkaline phosphatase concentration ORPHA:249
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Neonatal death... OMIM:124000
Fontaine Progeroid Syndrome
Pneumothorax, Short stature, Neonatal death, Recurrent aspiration pneumonia, Pulmonary hypoplasia... OMIM:612289
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Caroli Syndrome
Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentration, Port... ORPHA:480520
Mirizzi Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... ORPHA:521219
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Interface hepatitis, Elevated circulatin... ORPHA:562639
Fryns Syndrome
Chylothorax, Stillbirth, Polyhydramnios, Pulmonary hypoplasia OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Pulmonary hypoplasia OMIM:263520
Meier-Gorlin Syndrome 7
Short stature, Pulmonary hypoplasia, Growth delay OMIM:617063
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Elevated circulating alkaline phosphatase concentration OMIM:211900
Ulbright-Hodes Syndrome
Pneumothorax, Postnatal growth retardation, Severe intrauterine growth retardation, Pulmonary hyp... ORPHA:3404
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin OMIM:619543
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Elevated circulating alkaline phosphatase concentration OMIM:300868
Dpagt1-Cdg
Pulmonary hypoplasia, Anasarca, Elevated circulating hepatic transaminase concentration ORPHA:86309
Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Lymphedema, Pulmonary hypoplasia ORPHA:536471
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Ascites, Elevated gamma-g... ORPHA:100086
Estrogen Resistance
Delayed puberty, Elevated alkaline phosphatase of bone origin OMIM:615363
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated circulating hepatic transaminase concentration OMIM:137920
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase ORPHA:785
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:619525
Meckel Syndrome, Type 1
Intrauterine growth retardation, Oligohydramnios, Pulmonary hypoplasia OMIM:249000
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hypoplasia ORPHA:83617
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
X-Linked Hypophosphatemia
Disproportionate short stature, Elevated circulating alkaline phosphatase concentration, Growth d... ORPHA:89936
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Polyhydramnios, Pulmonary artery stenosis, Short stature, Growth de... ORPHA:96334
Restrictive Dermopathy
Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia ORPHA:1662
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Short stature, Growth delay, Pulmonary hypoplasia, Intrauterine growth re... OMIM:270400
Penile Agenesis
Oligohydramnios, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Reynolds Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:613471
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Osteogenesis Imperfecta
Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:666
Cardiac-Urogenital Syndrome
Pericardial effusion, Scimitar anomaly, Pulmonary hypoplasia, Partial anomalous pulmonary venous ... OMIM:618280
Tetrasomy 9P
Intrauterine growth retardation, Jaundice, Pulmonary hypoplasia ORPHA:3310
Metaphyseal Dysplasia, Braun-Tinschert Type
Elevated alkaline phosphatase of bone origin ORPHA:85188
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Juvenile Nephropathic Cystinosis
Growth delay, Elevated alkaline phosphatase of bone origin, Dehydration ORPHA:411634
Hypomagnesemia 3, Renal
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:248250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Pulmonary hypoplasia, Disproportionate short-limb short stature ORPHA:93271
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Spondyloepimetaphyseal Dysplasia, X-Linked
Disproportionate short-trunk short stature, Abnormality of alkaline phosphatase level OMIM:300106
Autosomal Recessive Hypophosphatemic Rickets
Short stature, Elevated alkaline phosphatase of bone origin, Growth delay ORPHA:289176
Genitopatellar Syndrome
Polyhydramnios, Pulmonary hypoplasia OMIM:606170
Fraser Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Cardiac total anomalous pulmonary venou... ORPHA:99125
Pallister-Killian Syndrome
Stillbirth, Polyhydramnios, Rhizomelia, Mesomelic/rhizomelic limb shortening, Growth delay, Pulmo... OMIM:601803
Generalized Arterial Calcification Of Infancy
Elevated alkaline phosphatase of bone origin, Hydrops fetalis, Polyhydramnios, Ascites, Pericardi... ORPHA:51608
Microphthalmia, Syndromic 1
Growth delay, Pulmonary hypoplasia OMIM:309800
Craniofacial Microsomia 1
Pulmonary hypoplasia OMIM:164210

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 Emb

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 Emb.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23ahl. iScience (September 2023) Embtm1b(KOMP)Wtsi PMC10579432
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Embtm1b(KOMP)Wtsi PMC5638796

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
Embtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Embtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Embtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter