Gene Summary

Name:
alpha-2-HS-glycoprotein
Synonyms:
fetuin-A

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
short tibia Ahsgtm1.1(KOMP)Vlcg HOM Early adult 4.26×10-17
abnormal auditory brainstem response Ahsgtm1.1(KOMP)Vlcg HOM   Early adult 6.04×10-06

Download data as:  TSV  XLS

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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
Diaphragm  Section images heterozygote 66.67% (2 of 3)
Epididymis  Section images heterozygote 33.33% (1 of 3)
Gonadal fat pad  Wholemount images heterozygote 33.33% (1 of 3)
Ileum  Section images heterozygote 100% (3 of 3)
Jejunum  Section images heterozygote 66.67% (2 of 3)
Kidney  Section images heterozygote 66.67% (2 of 3)
Liver  Section images heterozygote 100% (3 of 3)
Ovary  Wholemount images heterozygote 33.33% (1 of 3)
Oviduct  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images heterozygote 33.33% (1 of 3)
Tongue  Section images heterozygote 66.67% (2 of 3)
Uterus  Wholemount images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 33.33% (1 of 3)
Adrenal gland N/A heterozygote 33.33% (1 of 3)
Aorta N/A heterozygote 33.33% (1 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 33.33% (1 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebellum N/A heterozygote 33.33% (1 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote 33.33% (1 of 3)
Colon N/A heterozygote 33.33% (1 of 3)
Duodenum N/A heterozygote 33.33% (1 of 3)
Esophagus N/A heterozygote 33.33% (1 of 3)
Eye N/A heterozygote 33.33% (1 of 3)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 33.33% (1 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 33.33% (1 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 33.33% (1 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 33.33% (1 of 3)
Mesenteric lymph node N/A heterozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 33.33% (1 of 3)
Olfactory lobe N/A heterozygote 33.33% (1 of 3)
Pancreas N/A heterozygote 33.33% (1 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 33.33% (1 of 3)
Quadriceps N/A heterozygote 33.33% (1 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 33.33% (1 of 3)
Small intestine N/A heterozygote 100% (3 of 3)
Spinal cord N/A heterozygote 33.33% (1 of 3)
Spleen N/A heterozygote 33.33% (1 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 33.33% (1 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 33.33% (1 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 33.33% (1 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
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 0.56% (3 of 534)
aorta 0.19% (1 of 540)
blood 0.0%
bone marrow 0.0%
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cecum 4.65% (16 of 344)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
chest bone Unavailable
colon 13.11% (16 of 122)
diaphragm 0.0%
duodenum 4.13% (5 of 121)
epididymis 14.18% (19 of 134)
esophagus 1.63% (6 of 369)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.83% (1 of 121)
heart 0.19% (1 of 522)
hindlimb 0.0%
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
ileum 14.75% (18 of 122)
jejunum 8.59% (11 of 128)
kidney 4.79% (26 of 543)
large intestine 5.31% (28 of 527)
liver 0.0%
lower urinary tract 0.19% (1 of 529)
lung 0.37% (2 of 536)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.35% (1 of 282)
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.18% (1 of 543)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.19% (1 of 529)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 541)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 533)
small intestine 5.01% (27 of 539)
spinal cord 0.55% (3 of 543)
spleen 0.38% (2 of 531)
stomach 3.77% (20 of 530)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 0.78% (1 of 128)
testis 1.13% (6 of 530)
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
tongue 4.07% (5 of 123)
trachea 0.56% (3 of 535)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.82% (17 of 353)
vascular system 0.0%
vesicular gland 0.0%
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

24 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Hind Leg and Hip

9 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Ahsg mutations

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

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

The table below shows human diseases associated to Ahsg by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alopecia-Intellectual Disability Syndrome
EEG abnormality, Brachydactyly, Macrotia, Split hand, Hearing impairment ORPHA:2850
Alopecia-Mental Retardation Syndrome 1
OMIM:203650

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia... OMIM:601382
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Tibial Hemimelia
Absent tibia OMIM:275220
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... OMIM:119100
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal motor evoked potentials, Pes cavus, Abnormal auditory ... ORPHA:320401
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... OMIM:601560
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Familial Tumoral Calcinosis
Calcification of muscles ORPHA:53715
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Talipes cavus equinovarus, Decreased nerve conduction velocity, Abnormal audi... OMIM:601455
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Short ribs, Hyp... OMIM:607143
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Cysticercosis
Cerebral calcification, Calcification of muscles, Abnormal skeletal muscle morphology ORPHA:1560
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Slc35A2-Cdg
Sensorineural hearing impairment, Talipes equinovarus, EEG with focal epileptiform discharges, Sh... ORPHA:356961
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Short 1st metacarpal, Micrognath... OMIM:201050
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Charcot-Marie-Tooth Disease, Type 4C
Talipes equinovarus, Decreased motor nerve conduction velocity, Facial palsy, Pes cavus, Hammerto... OMIM:601596
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Large earlobe, Clinodactyly... ORPHA:1106
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Low-set ears, ... OMIM:119800
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Hypertriglyceridemia, Insulin-res... OMIM:604367
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Broad phalanx, Metaphyseal dysplasia, Bowing of the legs, Metaphys... ORPHA:2502
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Microtia, Mesomelic arm shortenin... OMIM:171480
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Overfolded helix, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... OMIM:609945
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Microtia, Short femur, Micrognat... ORPHA:1988
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger,... ORPHA:3320
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Pes cavus, Temporal optic ... ORPHA:1215
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Coxa valga, Abnormal auditory evoked potentials OMIM:109120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Weismann-Netter Syndrome
Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared iliac bones OMIM:112350
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Low-set ears, Fibular hypoplasi... OMIM:113470
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear, Cone-shaped epiphyses of the phalanges of the hand... ORPHA:2751
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertriglyceridemia, Hyperch... ORPHA:528
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... ORPHA:2457
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Narrow greater sciatic notch, Microtia, Short ribs, Micrognathia, Post... OMIM:617925
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Microt... ORPHA:1788
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Arthrogryposis, Distal, Type 2A
Talipes equinovarus, Adducted thumb, Camptodactyly, Ulnar deviation of the hand or of fingers of ... OMIM:193700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Irregular epiphyses, Abnormal auditory evoke... OMIM:619260
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Micrognathia, Abnormality of fibula morphology, Abnormality of the ... ORPHA:3035
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Pes cavus, Decreased nerve conduction velocity, P... ORPHA:206443
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Low-set, posteriorly rota... ORPHA:958
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Short toe, Talipes equinovarus, Micrognathia... ORPHA:171929
Fibrochondrogenesis 1
Short palm, Abnormal pinna morphology, Clinodactyly of the 5th finger, Narrow greater sciatic not... OMIM:228520
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... OMIM:246200
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Protruding ear, Radial bowing, Hand oligodactyly, Hypoplasia o... ORPHA:2879
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... OMIM:260660
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Steatorrhea OMIM:602579
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Adult Krabbe Disease
Pes cavus, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Campomelic Dysplasia
Low-set ears, Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowin... ORPHA:140
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Acquired Generalized Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mel... OMIM:151660
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Infantile Krabbe Disease
Decreased nerve conduction velocity, Ankle clonus, Optic atrophy, Hearing impairment, Prolonged b... ORPHA:206436
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormality of femur morphology, Abnormality of finger, Abnormal motor evoked p... ORPHA:909
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Failure to thrive OMIM:613327
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Micrognathia, Overlapping fingers, Long fingers, Broad hallu... ORPHA:401973
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper l... OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Abnormal pinna morphology, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the ph... OMIM:276820
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... OMIM:248370
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Foot joint contracture, Macrotia, Abnormality... ORPHA:90321
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... OMIM:208500
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Hypoketotic hypoglycemia, Increased circulating free fatty acid level,... ORPHA:26793
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Overlapping... ORPHA:79330
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:216400
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Insulin r... ORPHA:508
Camptodactyly Syndrome, Guadalajara, Type I
Short palm, Absent ethmoidal sinuses, Short metatarsal, Microtia, Overfolding of the superior hel... OMIM:211910
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hypertr... OMIM:608594
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Orofaciodigital Syndrome Type 4
Conductive hearing impairment, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Split hand, Ab... ORPHA:2753
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased serum leptin, Insulin-resistant diabetes m... OMIM:269700
Osteopathia Striata With Cranial Sclerosis
Conductive hearing impairment, Clinodactyly of the 5th finger, Talipes equinovarus, Paranasal sin... OMIM:300373
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Glycosuria... ORPHA:79474
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Protruding ear, Short toe, Short ribs, Short humerus, Brachydacty... OMIM:218330
Charge Syndrome
Sensorineural hearing impairment, Low-set ears, Absent tibia, Aplasia of the semicircular canal, ... OMIM:214800
Kinsship Syndrome
Dislocated radial head, Micrognathia, Polydactyly, Mesomelia, Pes planus, Fibular hypoplasia, Hip... OMIM:619297
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99226
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hypoplasia of proximal radius, T... ORPHA:444077
Alopecia-Intellectual Disability Syndrome
EEG abnormality, Brachydactyly, Macrotia, Split hand, Hearing impairment ORPHA:2850
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Decre... ORPHA:64
Pmm2-Cdg
Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonad... ORPHA:79318
Alopecia-Mental Retardation Syndrome 1
OMIM:203650

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 Ahsg

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 Ahsg.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ahsgtm1.1(KOMP)Vlcg PMC5638796

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MGI Allele Allele Type Produced
Ahsgtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ahsgtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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