Gene: Gga1 MGI:2146207

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Gene Summary

Name:
golgi associated, gamma adaptin ear containing, ARF binding protein 1
Synonyms:
4930406E12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Gga1tm1.1(KOMP)Vlcg HOM   Early adult 3.65×10-06
abnormal testis morphology Gga1tm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Gga1tm1.1(KOMP)Vlcg HOM Early adult 0.00
male infertility Gga1tm1.1(KOMP)Vlcg HOM Early adult 0.00

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (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 Forepaw

9 Images

Adult LacZ

LacZ Images Section

51 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Hind Leg and Hip

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Gga1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gga1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis, Bilateral sensorineural heari... OMIM:611102
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Short Stature Due To Ghsr Deficiency
Growth delay, Abnormality of body weight, Decreased body weight, Hypoglycemia, Delayed puberty, S... ORPHA:314811
Deafness-Infertility Syndrome
Male infertility, Sensorineural hearing impairment, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, H... OMIM:232700
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Pituitary dwarfism, Hypoglycemia OMIM:262400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature, Hypoglycemia ORPHA:366
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hypoglycemia OMIM:262700
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Growth delay, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Hearing impairment, Abnormal sperm morphology OMIM:608653
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypoglycemia OMIM:616113
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Hypoglycemia, Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation OMIM:617156
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Failure to thrive in infancy, Hypoglycemia, Abnormal circulating leucine concentr... ORPHA:6
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy, Failure to thrive OMIM:610768
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine growth retardation, Hyp... OMIM:613370
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Growth delay, Hypoglycemia OMIM:616111
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Postnatal growth retardation, Hypoglycemia, Decreased body weight, Small f... ORPHA:231140
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-pepti... ORPHA:276556
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hyperalaninemia, Small for gestational age, Hypoglycemia OMIM:614702
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Short stature, Hypoglycemia OMIM:618120
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:276575
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hyperamylasemia, Death in infancy, Hypoglycemia, Hyperalaninemia, Elevated circu... OMIM:619386
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia, Intrauterine growt... OMIM:601410
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Short stature, H... ORPHA:2089
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hypoglycemia, Intr... OMIM:231100
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Elevated circula... OMIM:618835
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Short stature, Hyperlipidemia, Hypoglycemia OMIM:232400
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Elevated circula... OMIM:618839
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Small for gestational age, Hypoglycemia ORPHA:231147
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Growth delay, Death in infancy, Hypoglycemia, Neonatal death, Death in childhood... OMIM:245400
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Hypoglycemia OMIM:614736
2P21 Microdeletion Syndrome
Hypocalcemia, Growth delay, Failure to thrive, Hypoglycemia ORPHA:163693
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Failure to thrive, Intrauterine g... OMIM:619048
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Failure to thrive, Intrau... ORPHA:26792
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration ORPHA:79159
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Mehmo Syndrome
Hypoglycemia, Delayed puberty, Birth length less than 3rd percentile, Small for gestational age, ... OMIM:300148
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia OMIM:617872
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Death in adolescence, Death in infancy, Hypoglycemia, Intrauterine growth ... OMIM:619055
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Failure to thrive, Methylmalonic acidemia, Hypoglycemia ORPHA:289504
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Abdominal obesity, Elevated circula... OMIM:615980
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Intrauterine growth retardation OMIM:618838
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Postnatal growth retardation, Hypoglycemia, Severe intrauterine growth retard... ORPHA:73272
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hypoglycemia, Delayed puberty, Short stature, Failure to thrive, Hyperlipidemia ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Failure to thrive, Hypoglycemia OMIM:617049
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Impaired gluconeogenesis, Hypoglycemia, Failure to th... OMIM:212140
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Glycerol Kinase Deficiency
Growth delay, Hypoglycemia, Hypertriglyceridemia, Small for gestational age, Short stature OMIM:307030
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hyperammonemia, Hypoglycemia OMIM:618253
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Short stature, Large for gestational age, Diabetes mellitus OMIM:616026
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia OMIM:614741
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Short stature OMIM:262600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased serum pyruvate, Death in infancy, Hyperalaninemia, Failure to th... OMIM:619046
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Hyperisoleucinemia, Hypog... ORPHA:2394
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi... ORPHA:79237
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mpi-Cdg
Hypoglycemia ORPHA:79319
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Temple Syndrome
Postnatal growth retardation, Small for gestational age, Type II diabetes mellitus, Short stature... ORPHA:254516
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Small for gestational age, Short stature, Hypoglycemia ORPHA:231137
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:618958
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Increased serum pyruva... OMIM:619355
Laron Syndrome
Hypercholesterolemia, Severe short stature, Hypoglycemia, Delayed puberty, Truncal obesity ORPHA:633
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoglycemia OMIM:618329
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia, Delayed puberty, Failure to thrive, Short stature ORPHA:95496
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypoglycemia ORPHA:48431
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperammonemia, Failure to thrive, Hypoglycemia OMIM:614739
Silver-Russell Syndrome 2
Intrauterine growth retardation, Neonatal hypoglycemia, Short stature OMIM:618905
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Hypoglycemia, Cachexia, Elevated circulating creatine kinase co... ORPHA:42
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Hyperammonemia OMIM:600649
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Reduced C-peptide level, Hypoglycemia, Hypoinsulinemia, Weight loss, Re... ORPHA:2126
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Failure to thrive, Hypoglycemia OMIM:210200
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketotic hypoglycemi... ORPHA:97279
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia OMIM:261680
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Hyperammonemia, Tra... OMIM:255120
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperuricemia, Hypoglycemia, Death in childhood, Hyperammonemia OMIM:246450
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Pancreatic And Cerebellar Agenesis
Death in infancy, Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:220111
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Proportionate short stature, Hypoglycemia, Decreased body weight, Delayed puberty, Small for gest... ORPHA:391408
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Hypoglycemia OMIM:615751
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Short stature, Hypoglycemia OMIM:256810
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Small for gestational... OMIM:609015
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, G... ORPHA:2088
Infantile Liver Failure Syndrome 2
Hyperammonemia, Hypoglycemia OMIM:616483
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hyponatremia, Neonatal hypoglycemia ORPHA:199296
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Growth delay, Hypoglycemia, Hypertriglyceridemia, Del... ORPHA:264580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Nonketotic hypoglycemia, Death in infancy, Elevated circulating creat... OMIM:201475
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Postnatal growth retardation,... OMIM:246200
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Delayed puberty, Short stature, Hypoglycemia OMIM:614921
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Failure to thrive OMIM:606407
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:251880
Propionic Acidemia
Hyperglycinemia, Hypoglycemia, Failure to thrive, Short stature, Hyperammonemia OMIM:606054
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Growth delay, Hypertriglyceridemia OMIM:613027
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Growth delay, Delayed puberty, Small for gestational age, Short stature, Intrauterine growth reta... OMIM:616817
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Hyperammonemia, Neonatal hypoglycemia, Hypogl... OMIM:212138
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Maple Syrup Urine Disease
Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine concentration, ... OMIM:248600
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity OMIM:600955
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia OMIM:231670
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, Hypogly... ORPHA:397590
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Neonatal hyperbilirubin... ORPHA:348
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Postnatal growth retardation, Hypoglycemia, Type II diabetes mellitus ORPHA:453533
Pyruvate Carboxylase Deficiency
Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Elev... ORPHA:228305
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Fai... ORPHA:99901
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Neonatal death, Hypoglycemia, Glycosuria OMIM:231680
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Post-Traumatic Pituitary Deficiency
Growth delay, Hypoglycemia, Delayed puberty ORPHA:95619
Adult Krabbe Disease
Erectile dysfunction, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay OMIM:231530
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiolog... OMIM:609136
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Sensorineural hearing impairment, Diabetes mellitus, Diabetes... OMIM:222300
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Hypoglycemia OMIM:616638
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia, Hypoglycemia OMIM:619075
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Small for gestational age, I... ORPHA:26793
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Hypoketotic hypoglycemia, Elevated creatine kin... ORPHA:159
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Short stature ORPHA:436174
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Mental Retardation, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Hypoglycemia OMIM:201450
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Failure to thrive, Hypoglycemia OMIM:210210
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Hypoglycemia, Intrauterine growth retardation, Short stature, Failure to thrive, El... OMIM:608779
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperuricemia, Weight loss, Hypoglycemia, Hyperglycemia ORPHA:134
Hsd10 Disease, Infantile Type
Hyperammonemia, Hypoglycemia ORPHA:391428
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Sensorineural hearing imp... OMIM:157640
Visceral Steatosis, Congenital
Hypocalcemia, Neonatal death, Hypoglycemia OMIM:228100
Silver-Russell Syndrome
Insulin resistance, Postnatal growth retardation, Failure to thrive in infancy, Cachexia, Short s... ORPHA:813
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Erectile dysfunction, Abnormal autonomic ... ORPHA:99027
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemia, Elevated circulating acylcarnitine concentration, Eleva... ORPHA:26791
Mirage Syndrome
Hyponatremia, Hypoglycemia, Decreased body weight, Short stature, Intrauterine growth retardation... OMIM:617053
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Macrotia, Hearing impairment, Absent brainstem auditory respon... ORPHA:90321
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypoglycemia, Weight loss, Hypercalcemia, Type I diabetes mellitus, ... ORPHA:199299
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated... ORPHA:480864
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Weight loss, Delaye... ORPHA:95409
Silver-Russell Syndrome 1
Intrauterine growth retardation, Fasting hypoglycemia, Small for gestational age OMIM:180860
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Growth dela... ORPHA:3337
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Elevated circulating creatin... ORPHA:230
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Growth delay, Hypertriglyceridemia, Delayed puberty, ... ORPHA:370
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Weight loss, Failure to thrive, Hyperk... ORPHA:361
Isolated Complex I Deficiency
Increased serum pyruvate, Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Diabe... ORPHA:2609
Cockayne Syndrome A
Cryptorchidism, Thymic hormone decreased, Irregular menstruation, Abnormality of the pinna, Abnor... OMIM:216400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Failure to thrive, Short stature, Hypoglycemia OMIM:618005
Tyrosinemia, Type I
Hypertyrosinemia, Hypophosphatemic rickets, Hypermethioninemia, Elevated alpha-fetoprotein, Hypog... OMIM:276700
Addison Disease
Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Weight loss, Delaye... ORPHA:85138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hyponatremia, Hypoglycemia ORPHA:90790
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circulating acylcarn... OMIM:616878
Glycogen Storage Disease Ia
Hyperuricemia, Hypoglycemia, Delayed puberty, Short stature, Hyperlipidemia OMIM:232200
Glycogen Storage Disease Ib
Hyperuricemia, Hypoglycemia, Delayed puberty, Short stature, Hyperlipidemia OMIM:232220
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hypoglycemia, Glycosuria, Bicarbonaturia, Fa... OMIM:229600
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Elev... ORPHA:157
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Failure to thrive, Hyperk... ORPHA:90791
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Cholera
Hypocalcemia, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Hypoglycemia, Intrauterine growth retardation, Hypomethioninemia, Methylmalonic aci... ORPHA:79282
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Nonketotic hypoglycemia, Decreased p... OMIM:608836
Trisomy 10P
Low voltage EEG, Macrotia, Absent gallbladder, EEG with burst suppression, Posteriorly rotated ea... ORPHA:171929
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight, Postnatal growth retardation, Short stature, Intrau... OMIM:300867
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Growth delay, Hyperuricemia, Reactive hypoglycemia ORPHA:469
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Elev... ORPHA:228308
Dilated Cardiomyopathy With Ataxia
Intrauterine growth retardation, Elevated circulating glutaric acid concentration, Growth delay, ... ORPHA:66634
Leigh Syndrome
Growth delay, Hypoglycemia, Hyperalaninemia, Failure to thrive, Intrauterine growth retardation ORPHA:506
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Failure to thrive in infancy ORPHA:746
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia OMIM:124000
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Cockayne Syndrome B
Cryptorchidism, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hear... OMIM:133540
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Nonketotic hypoglycemia, Hyperuricemia, Weight loss, Recurrent hypoglycemia ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypercholesterolemia, Growth delay, Hyperuricemia, Hypoglycemia, Hypertrig... ORPHA:79259
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Postnatal growth retardation, Severe intrauterine growt... ORPHA:96182
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:565624
Cerebrotendinous Xanthomatosis
Hypothyroidism, Abnormal motor evoked potentials, Cholelithiasis, Abnormal auditory evoked potent... ORPHA:909
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Weight loss, Hypokalemia, Hypercalcemia, Hypoalbu... ORPHA:88673
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Hearing impairment, Male infertility OMIM:227650
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia, Failure to thrive ORPHA:293978
Sheehan Syndrome
Hyponatremia, Hypoglycemia, Obesity ORPHA:91355
Glycogen Storage Disease Ic
Delayed puberty, Hyperlipidemia, Hyperuricemia, Hypoglycemia OMIM:232240
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Mend Syndrome
Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Failure to thrive, Hypoglycemia OMIM:252010
3-Methylglutaconic Aciduria Type 7
Growth delay, Neonatal hypoglycemia ORPHA:445038
Deeah Syndrome
Neonatal hypoglycemia, Death in adolescence, Death in infancy, Decreased body weight, Death in ch... OMIM:619004
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia, Hypoglycemia ORPHA:109
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Delayed puberty, Failure ... ORPHA:168558
X-Linked Intellectual Disability, Snyder Type
Small earlobe, Thickened helices, Cryptorchidism, Asymmetry of the ears, Abnormality of the Leydi... ORPHA:3063
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Delayed puberty, Failure ... ORPHA:289548
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Holoprosencephaly
Diabetes mellitus, Hyponatremia, Hypoglycemia, Failure to thrive in infancy ORPHA:2162
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Primary Ciliary Dyskinesia
Conductive hearing impairment, Female infertility, Hearing impairment, Abnormal sperm motility, M... ORPHA:244
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Hypoglycemia OMIM:131100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Failure to thrive, Methylmalonic acidemia, Hypoglycemia ORPHA:17
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Male infertility OMIM:244400
Primary Hyperoxaluria Type 1
Abnormality of circulating enzyme level, Calcinosis, Hyperoxaluria, Failure to thrive ORPHA:93598
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Bannayan-Riley-Ruvalcaba syndrome
Postnatal growth retardation, Hypoglycemia OMIM:153480
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia ORPHA:786
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Menkes Disease
Intrauterine growth retardation, Hypoglycemia ORPHA:565
Non-Acquired Panhypopituitarism
Growth delay, Hypoglycemia, Delayed puberty, Pituitary dwarfism, Short stature ORPHA:90695
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Growth delay, Overweight, Pituitary dwarfism, Hypoglycemia ORPHA:226307
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Elevated alpha-fetoprotein, Hypoglycemia, Large for gestational age, Obesity ORPHA:116
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hypoglycemia ORPHA:373
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Neonatal hypoglycemia ORPHA:457359
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Hyponatremia, Weight loss, Short stature, Hypochloremia, Failure to thrive... ORPHA:90794
Costello Syndrome
Failure to thrive, Short stature, Hypoglycemia OMIM:218040
Noonan Syndrome 1
Cryptorchidism, Low-set, posteriorly rotated ears, Hearing impairment, Sensorineural hearing impa... OMIM:163950
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Acute Liver Failure
Hyperammonemia, Hypoglycemia ORPHA:90062
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Pituitary dwarfism, Hypoglycemia, Growth delay ORPHA:95494
Cystinosis, Nephropathic
Male hypogonadism, Delayed puberty, Primary hypothyroidism, Diabetes mellitus, Male infertility OMIM:219800
Holoprosencephaly 1
Short stature, Hypoglycemia OMIM:236100
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia OMIM:130650
Cystic Fibrosis
Male infertility OMIM:219700
Sotos Syndrome
Hypercalcemia, Neonatal hypoglycemia ORPHA:821

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 Gga1

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 Gga1.

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) Gga1tm1.1(KOMP)Vlcg PMC5638796

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MGI Allele Allele Type Produced
Gga1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Gga1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Gga1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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