Gene: Ahsg MGI:107189

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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 1.71×10-18
abnormal auditory brainstem response Ahsgtm1.1(KOMP)Vlcg HOM   Early adult 7.30×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images homozygote 100% (1 of 1)
Aorta  Wholemount images homozygote 100% (1 of 1)
Brain  Wholemount images homozygote 100% (1 of 1)
Cecum  Wholemount images homozygote 100% (1 of 1)
Cerebellum  Wholemount images homozygote 100% (1 of 1)
Chest bone  Wholemount images homozygote 100% (1 of 1)
Colon  Wholemount images homozygote 100% (1 of 1)
Diaphragm  Section images heterozygote 66.67% (2 of 3)
Diaphragm  Wholemount images homozygote 100% (1 of 1)
Duodenum  Wholemount images homozygote 100% (1 of 1)
Epididymis  Section images heterozygote 33.33% (1 of 3)
Esophagus  Wholemount images homozygote 100% (1 of 1)
Eye  Wholemount images homozygote 100% (1 of 1)
Gall bladder  Wholemount images homozygote 100% (1 of 1)
Gonadal fat pad  Wholemount images heterozygote 33.33% (1 of 3)
Harderian gland  Wholemount images homozygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (3 of 3)
Ileum  Wholemount images homozygote 100% (1 of 1)
Jejunum  Section images heterozygote 66.67% (2 of 3)
Jejunum  Wholemount images homozygote 100% (1 of 1)
Kidney  Section images heterozygote 66.67% (2 of 3)
Kidney  Wholemount images homozygote 100% (1 of 1)
Liver  Section images heterozygote 100% (3 of 3)
Liver  Wholemount images homozygote 100% (1 of 1)
Lung  Wholemount images homozygote 100% (1 of 1)
Mesenteric adipose tissue  Wholemount images homozygote 100% (1 of 1)
Mesenteric lymph node  Wholemount images homozygote 100% (1 of 1)
Midbrain  Wholemount images homozygote 100% (1 of 1)
Olfactory lobe  Wholemount images homozygote 100% (1 of 1)
Ovary  Wholemount images heterozygote 33.33% (1 of 3)
Oviduct  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Pancreas  Wholemount images homozygote 100% (1 of 1)
Pituitary gland  Wholemount images homozygote 100% (1 of 1)
Prostate gland  Section images heterozygote 33.33% (1 of 3)
Prostate gland  Wholemount images homozygote 100% (1 of 1)
Quadriceps  Wholemount images homozygote 100% (1 of 1)
Skin  Wholemount images homozygote 100% (1 of 1)
Spinal cord  Wholemount images homozygote 100% (1 of 1)
Spleen  Wholemount images homozygote 100% (1 of 1)
Stomach  Wholemount images homozygote 100% (1 of 1)
Testis  Wholemount images homozygote 100% (1 of 1)
Thymus  Wholemount images homozygote 100% (1 of 1)
Tongue  Section images heterozygote 66.67% (2 of 3)
Tongue  Wholemount images homozygote 100% (1 of 1)
Trachea  Wholemount images homozygote 100% (1 of 1)
Urinary bladder  Wholemount images homozygote 100% (1 of 1)
Uterus  Wholemount images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Wholemount images homozygote 100% (1 of 1)
Vesicular gland  Wholemount images homozygote 100% (1 of 1)
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)
Blood N/A homozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A homozygote Not available
Brain N/A heterozygote 33.33% (1 of 3)
Brainstem N/A heterozygote Not available
Brainstem N/A homozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cartilage tissue N/A homozygote 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
Cerebral cortex N/A homozygote 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)
Epididymis N/A homozygote 100% (1 of 1)
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
Gonadal fat pad N/A homozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 33.33% (1 of 3)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindlimb N/A heterozygote Not available
Hindlimb N/A homozygote Not available
Hippocampus N/A heterozygote Not available
Hippocampus N/A homozygote Not available
Hypothalamus N/A heterozygote Not available
Hypothalamus N/A homozygote Not available
Large intestine N/A heterozygote Not available
Large intestine N/A homozygote Not available
Lower urinary tract N/A heterozygote Not available
Lower urinary tract N/A homozygote Not available
Lung N/A heterozygote 33.33% (1 of 3)
Lymph node N/A heterozygote Not available
Lymph node N/A homozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A homozygote Not available
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)
Ovary N/A homozygote Not available
Oviduct N/A homozygote Not available
Pancreas N/A heterozygote 33.33% (1 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A homozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A homozygote Not available
Penis N/A heterozygote 0.0% (0 of 3)
Penis N/A homozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote Not available
Peripheral nervous system N/A homozygote Not available
Peyer's patch N/A heterozygote Not available
Peyer's patch N/A homozygote 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)
Sciatic nerve N/A homozygote Not available
Skeletal muscle N/A heterozygote Not available
Skeletal muscle N/A homozygote Not available
Skin N/A heterozygote 33.33% (1 of 3)
Small intestine N/A heterozygote Not available
Small intestine N/A homozygote Not available
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 pyloric region N/A homozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Striatum N/A homozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Sublingual gland N/A homozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A homozygote Not available
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)
Thyroid gland N/A homozygote Not available
Trachea N/A heterozygote 33.33% (1 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A homozygote Not available
Urinary bladder N/A heterozygote 33.33% (1 of 3)
Uterus N/A homozygote Not available
Vagina N/A heterozygote 0.0% (0 of 3)
Vagina N/A homozygote Not available
Vascular system N/A heterozygote Not available
Vascular system N/A homozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
White adipose tissue N/A homozygote 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

53 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 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
Macrotia, Split hand, Hearing impairment, EEG abnormality, Brachydactyly 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
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601382
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset truncal obesit... ORPHA:71529
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Tibial Hemimelia
Absent tibia OMIM:275220
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Cupped ear, Hand monodactyly, Split foot, Patellar aplasi... OMIM:119100
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Micrognathia, Posteriorly rotated ears, Fibular hypoplasia, Clinod... OMIM:201170
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Familial Tumoral Calcinosis
Calcification of muscles ORPHA:53715
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Hearing impairment, Abnormal auditory evoked potentials, Decreased ner... OMIM:601455
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Abnormality of the pinna, Short humerus, Sanda... OMIM:607143
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mell... ORPHA:280356
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Cysticercosis
Calcification of muscles, Abnormal skeletal muscle morphology, Cerebral calcification ORPHA:1560
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, EEG with focal epi... ORPHA:356961
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Acrocraniofacial Dysostosis
Conductive hearing impairment, Short 1st metacarpal, Metatarsus adductus, Abnormal auditory evoke... OMIM:201050
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foot morphology OMIM:236640
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Conductive hearing impairment, Aplasia/Hypoplasia ... ORPHA:2502
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Conductive hearing impairm... OMIM:171480
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Low-set, posteriorly rotated ears, Adducted thum... ORPHA:3320
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Overfolded helix, Flared iliac wing, Spli... OMIM:609945
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment, Coxa valga OMIM:109120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Weismann-Netter Syndrome
Squared iliac bones, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing OMIM:112350
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for g... ORPHA:79237
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent Achilles reflex, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorin... ORPHA:1215
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemia ORPHA:2126
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, H... OMIM:604367
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Omodysplasia 1
Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus, Limited knee flexio... OMIM:258315
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:3085
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Abnormality of the pinna, Hypoplastic pubic bone, Sh... OMIM:617925
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Precocious pube... ORPHA:528
Mohr-Tranebjaerg Syndrome
Ankle clonus, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal coc... ORPHA:52368
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Ap... ORPHA:1788
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance ORPHA:363400
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Camptodactyly, Flexion contracture of toe, Hearing impairment, Abnormal audit... OMIM:193700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Clinodactyly of t... ORPHA:96334
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Tibial bowing, Bowing of the legs, Abnorm... OMIM:307800
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Short th... OMIM:304120
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Abnormality of th... ORPHA:3035
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Low-set, posteriorly rotated ear... ORPHA:958
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairment, Optic... OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic ... ORPHA:206443
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... OMIM:608612
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Severe failure to thrive, Hyp... OMIM:246200
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Trisomy 10P
Flexion contracture of thumb, Low voltage EEG, Abnormal hip joint morphology, Macrotia, Camptodac... ORPHA:171929
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Adult Krabbe Disease
Pes cavus, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:276152
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Hearing impa... ORPHA:140
Charcot-Marie-Tooth Disease Type 1F
Proximal lower limb amyotrophy, Absent brainstem auditory responses, Sensorineural hearing impair... ORPHA:101085
Occipital Horn Syndrome
Hip dysplasia, Genu valgum, Large iliac wing, Absent tibia, Humerus varus, Pes planus, Down-slopi... ORPHA:198
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperglycemia,... OMIM:248370
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Failure to thrive, Insulin resistance OMIM:613327
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:79086
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Abnormality of the pi... OMIM:210600
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Cerebrotendinous Xanthomatosis
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormality of finger, Abnormal... ORPHA:909
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Upper limb undergrowth, Preaxial hand polydactyly, Duplication of pha... OMIM:236680
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ankle clonus, Hearing impairment, Decreased nerve... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Mend Syndrome
Overlapping fingers, Hand polydactyly, Overlapping toe, 2-3 toe syndactyly, Broad hallux, Abnorma... ORPHA:401973
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Femoral bowing, Hypoplasia of the radius, Long ear,... OMIM:276820
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Cockayne Syndrome Type 1
Macrotia, Contractures involving the joints of the feet, Hearing impairment, Absent brainstem aud... ORPHA:90321
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Syn... ORPHA:90652
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Cockayne Syndrome A
Square pelvis bone, Hypoplastic pelvis, Hypoplastic iliac wing, Abnormality of the pinna, Abnorma... OMIM:216400
Cockayne Syndrome B
Square pelvis bone, Hypoplastic pelvis, Hypoplastic iliac wing, Abnormality of the pinna, Abnorma... OMIM:133540
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Hypoketotic hypoglycemia, Small for gestational age, Increased circulating free fatty... ORPHA:26793
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Prader-Willi Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure to thrive in infa... OMIM:176270
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Small earlobe, Short metatarsal, Toe syndactyly, Overfolding of... OMIM:211910
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Short sternum, Aplasia of the ulna, Abnormality of the... OMIM:266910
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Overfolded helix, Conductive hearing impairment, Camptodactyly, Flexion contract... OMIM:300373
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:608594
Cranioectodermal Dysplasia 1
Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short humerus, Short distal phalanx of fi... OMIM:218330
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:269700
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Neoplasm of ... ORPHA:79474
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic ... ORPHA:273
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short sternum, Mesomelia, Sho... ORPHA:3404
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Conductive hearing impairment, Low-set, posteriorly rotated ears, Cupped ear, He... ORPHA:444077
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99413
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99226
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Hip dislocation, ... OMIM:619297
Alopecia-Intellectual Disability Syndrome
Macrotia, Split hand, Hearing impairment, EEG abnormality, Brachydactyly ORPHA:2850
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadi... ORPHA:64
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Elevated... 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(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ahsgtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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