Gene Summary

Name:
glutamate receptor, metabotropic 3
Synonyms:
mGluR3,  Gprc1c,  0710001G23Rik,  mGlu3

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
microphthalmia Grm3tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating HDL cholesterol level Grm3tm1b(KOMP)Wtsi HOM   Early adult 5.31×10-05
increased circulating triglyceride level Grm3tm1b(KOMP)Wtsi HOM   Early adult 1.21×10-05
impaired glucose tolerance Grm3tm1b(KOMP)Wtsi HOM Early adult 5.00×10-05
abnormal bone structure Grm3tm1b(KOMP)Wtsi HOM   Early adult 3.48×10-05
decreased lean body mass Grm3tm1b(KOMP)Wtsi HOM Early adult 2.23×10-05
increased circulating cholesterol level Grm3tm1b(KOMP)Wtsi HOM   Early adult 3.81×10-05
increased total body fat amount Grm3tm1b(KOMP)Wtsi HOM Early adult 3.36×10-06
decreased bone mineral content Grm3tm1b(KOMP)Wtsi HOM Early adult 2.77×10-06

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote Not available
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote Not available
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Human diseases caused by Grm3 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 Grm3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 1
Depression OMIM:125480
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Hypercholesterolem... OMIM:610947
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Geniospasm 1
Anxiety OMIM:190100
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Familial Alzheimer-Like Prion Disease
Anxiety, Emotional lability, Depression ORPHA:280397
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
Chorea, Benign Hereditary
Anxiety OMIM:118700
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression OMIM:614296
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
Myoclonus-Dystonia Syndrome
Panic attack, Anxiety, Depression, Personality disorder ORPHA:36899
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Large for gestational age OMIM:248110
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Dystonia 11, Myoclonic
Agoraphobia, Anxiety, Depression OMIM:159900
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, Insulin-resista... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Increased... ORPHA:79085
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Generalized Lipodystrophy
Bone cyst, Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tissue loss, Hypercholes... ORPHA:528
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Osteoporosis, Hypertriglyceridemia, Diabetes mellitus, Flexion... OMIM:615381
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior OMIM:619031
Glycerol Kinase Deficiency
Osteoporosis, Hypoglycemia, Hypertriglyceridemia, Small for gestational age OMIM:307030
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Diabetes melli... ORPHA:77296
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Nanophthalmos 4
Microphthalmia OMIM:615972
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia ORPHA:254531
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Huntington Disease-Like 2
Anxiety, Irritability, Apathy, Depression OMIM:606438
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Rickets, Failure to thrive, Impaired glucose tolerance, Hypophosphatemia, G... ORPHA:2088
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... ORPHA:79237
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita OMIM:616570
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age ORPHA:2432
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resi... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Lipoatrophy, Dia... ORPHA:2348
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... ORPHA:280365
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating creatine kinase concentration, Failure to thrive, Lipody... OMIM:613327
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Failure to thrive, Osteoporosis, Arthrogryposis multiplex congenita, Joint contra... OMIM:214150
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation ORPHA:208441
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporosis, Ketotic h... ORPHA:79240
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Failure to thrive, Osteoporosis, Osteopenia ORPHA:369
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Overweight ORPHA:401923
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia, Abnormal circulating lipid concentration, Obesity, Ing... ORPHA:3191
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cigarette-paper scars, Bilateral microphthalmos, Inguinal hernia OMIM:608763
Nanophthalmos
Microphthalmia ORPHA:35612
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Hypertriglyceridemia ORPHA:66628
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia ORPHA:291
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Hypertriglyceridemia ORPHA:179494
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Osteoporosis, Microphthalmia, Camptodactyly of finger ORPHA:48431
2Q24 Microdeletion Syndrome
Failure to thrive, Microphthalmia, Small for gestational age, Camptodactyly of finger ORPHA:1617
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Failure t... ORPHA:264580
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small for gestational age, Camptodactyly of finger OMIM:610756
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microphthalmia OMIM:274270
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:608594
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Microphthalmia, Syndromic 12
Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia OMIM:615524
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Alstrom Syndrome
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Truncal obesity, Hy... OMIM:203800
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Hypoplasia of the iris, Osteopenia OMIM:249310
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Decreased body weight... ORPHA:444490
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Failure to thri... OMIM:278000
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypoplasia of the iris, Osteopenia ORPHA:2479
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:269700
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Warburg Micro Syndrome 1
Failure to thrive, Osteoporosis, Microphthalmia OMIM:600118
Mmep Syndrome
Microphthalmia ORPHA:3434
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Obesity, Diabetes mellitus, Overweight ORPHA:69663
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Irritability, Abnormal aggressive, i... ORPHA:3077
Pierpont Syndrome
Abnormal subcutaneous fat tissue distribution, Microphthalmia, Small for gestational age ORPHA:487825
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceridemia, Reduced b... ORPHA:261476
Cofs Syndrome
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly of finger ORPHA:1466
Seckel Syndrome 10
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Diabetes mellitu... OMIM:617253
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis, Microphthalmia OMIM:218670
H Syndrome
Lipodystrophy, Hernia, Hypertriglyceridemia, Diabetes mellitus, Camptodactyly, Osteolysis ORPHA:168569
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia OMIM:232400
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Craniotelencephalic Dysplasia
Craniosynostosis, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Panniculitis, Hypertriglyceridemia, Flexion contracture OMIM:617591
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Microphthalmia, Decreased skull ossification ORPHA:93267
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Biemond Syndrome Type 2
Obesity, Microphthalmia ORPHA:141333
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hype... ORPHA:370
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microphthalmia, Hypoalbuminemia OMIM:618805
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Smith-Magenis Syndrome
Hypercholesterolemia, Obesity, Failure to thrive in infancy, Hypertriglyceridemia ORPHA:819
Warburg Micro Syndrome 4
Microphthalmia, Flexion contracture OMIM:615663
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Cholestasis-Lymphedema Syndrome
Reduced bone mineral density, Hyperlipidemia, Multiple lipomas ORPHA:1414
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia OMIM:210250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Gaisböck Syndrome
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglycer... ORPHA:90041
Pierpont Syndrome
Failure to thrive, Decreased body weight, Microphthalmia OMIM:602342
Classical-Like Ehlers-Danlos Syndrome Type 2
Umbilical hernia, Inguinal hernia, Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Ventral h... ORPHA:536532
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Failure to thrive,... ORPHA:90674
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Microphthalmia, Osteopenia ORPHA:2788
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Failure to thrive, Decreased skull ossification, Hypocalcemia OMIM:602361
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Acroosteolysis of dist... ORPHA:90154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Microphthalmia OMIM:613153
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Microphthalmia, Joint contracture of the hand, Pericallosal lipoma, Cam... OMIM:136760
Ring Chromosome 10 Syndrome
Cachexia, Microphthalmia, Hypocalcemia ORPHA:1438
Primary Pigmented Nodular Adrenocortical Disease
Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, Dorsocervical fat pad, Abnormal s... ORPHA:189439
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Failure to thrive, Osteoporosis, Hyperuricemia, Hypercholesterolemi... ORPHA:79259
Hartsfield Syndrome
Craniosynostosis, Microphthalmia ORPHA:2117
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Microphthalmia OMIM:617306
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Lipoatrophy ORPHA:90970
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hernia OMIM:602501
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Rickets, Failure to thrive, Elevated maternal serum alpha-fetoprotein, Joint cont... OMIM:309000
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus ORPHA:290
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Glucose intolerance, Dorsocervical fat pad, Increased circulating cortisol level,... ORPHA:189427
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:199276
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Elevated 8(9)-cholestenol, Microphthalmia, Epiphyseal stippling, Failure to thr... OMIM:302960
Spondylo-Ocular Syndrome
Osteoporosis, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Atypical Werner Syndrome
Chondrocalcinosis, Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia,... ORPHA:79474
Warburg Micro Syndrome 3
Microphthalmia, Flexion contracture OMIM:614222
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Congenital Toxoplasmosis
Failure to thrive in infancy, Microphthalmia ORPHA:858
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Inguinal hernia ORPHA:1135
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Small for gestational age, Thickened cortex of long bones, Increased bone mineral... OMIM:127000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Flexion contracture, Elevated circulating creatine kinase... OMIM:615249
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Osteoporosis, Delayed epiphyseal o... ORPHA:91
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Anterior rib punctate calcifications, Scarring alopecia of ... ORPHA:35173
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Flexion contracture OMIM:614833
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Microphthalmia OMIM:612530
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Microphthalmia, Increased bone mineral density, Delayed patellar ossi... ORPHA:163649
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... ORPHA:137902
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Generalized lipodystrophy, Osteopenia, Elevated hemoglobin A1c, Flexion cont... OMIM:619127
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Multiple lipomas, Lipomas of eyelids OMIM:167730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia, Multiple lipomas, Lipomas of eyelids ORPHA:2399
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Craniosynostosis, Osteopenia, Hypertriglyceridemia, Obesity ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Flexion contracture of toe, Failure to thrive, Panniculi... OMIM:256040
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Decreased skull ossification, Microphthalmia OMIM:300863
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... ORPHA:275761
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Microphthalmia OMIM:601794
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Microphthalmia ORPHA:363741
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance, Osteolytic defects of the distal phalanges of the hand, Acroo... ORPHA:90153
Temtamy Syndrome
Microphthalmia ORPHA:1777
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Gm2 Gangliosidosis, Ab Variant
Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior ORPHA:309246
Trisomy 13
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris, Hernia ORPHA:3378
Seckel Syndrome 2
Microphthalmia, Small for gestational age OMIM:606744
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Buphthalmos, Microphthalmia, Hypokalemia, Failure to thrive, Abnormal dental enamel... ORPHA:534
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive in infancy, Hypoglycemia, Failure to thrive, Neonatal hypoglycemia, Hypertrigly... OMIM:619418
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia, Umbilical hernia, Inguinal hernia, Joint contracture of the 4th fi... OMIM:618914
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... ORPHA:77293
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Flexion contracture of toe, Arthrogryposis multiplex congenita, Dec... OMIM:610758
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Familial Exudative Vitreoretinopathy
Microphthalmia, Reduced bone mineral density ORPHA:891
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Craniosynostosis, Obesity, Camptodactyly of toe ORPHA:251038
Congenital Muscular Dystrophy With Cerebellar Involvement
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Sandestig-Stefanova Syndrome
Microphthalmia, Small for gestational age, Camptodactyly OMIM:618804
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Microphthalmia, Epiphyseal stippling OMIM:619135
Joubert Syndrome 37
Obesity, Microphthalmia OMIM:619185
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia, Failure to thrive ORPHA:2470
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Fanconi Anemia, Complementation Group S
Failure to thrive, Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia, Joint contracture of the hand, Camptodactyly OMIM:611961
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Buphthalmos, Microphthalmia OMIM:616538
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration, Failure to thrive OMIM:300972
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia ORPHA:98908
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma OMIM:232200
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Baraitser-Winter Syndrome 1
Failure to thrive, Microphthalmia OMIM:243310
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris, Lipoma, Subcutaneous lipoma, Multiple central nervous sys... OMIM:613001
Moebius Syndrome
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly OMIM:157900
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia, Camptodactyly of 2nd-5th fingers OMIM:206920
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Curry-Jones Syndrome
Craniosynostosis, Microphthalmia ORPHA:1553
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma OMIM:232220
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Marden-Walker Syndrome
Microphthalmia, Joint contracture of the hand, Camptodactyly, Inguinal hernia, Congenital contrac... OMIM:248700
19P13.12 Microdeletion Syndrome
Obesity, Craniosynostosis, Arthrogryposis multiplex congenita, Hyperlipidemia ORPHA:254346
Curry-Jones Syndrome
Craniosynostosis, Microphthalmia OMIM:601707
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy,... OMIM:264090
Focal Dermal Hypoplasia
Omphalocele, Microphthalmia, Hypoplasia of the iris, Congenital diaphragmatic hernia, Abnormal de... ORPHA:2092
Galloway-Mowat Syndrome 3
Microphthalmia, Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly OMIM:617729
Joubert Syndrome 14
Microphthalmia OMIM:614424
Wiedemann-Rautenstrauch Syndrome
Type II diabetes mellitus, Failure to thrive, Optic disc hypoplasia, Slender build, Reduced subcu... ORPHA:3455
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased body weight, Microphthalmia OMIM:609053
Walker-Warburg Syndrome
Anophthalmia, Abnormal circulating creatine kinase concentration, Microphthalmia ORPHA:899
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive OMIM:118450
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Otodental Syndrome
Lens coloboma, Microphthalmia, Abnormal dental enamel morphology ORPHA:2791
Trichothiodystrophy 1, Photosensitive
Absence of subcutaneous fat, Microphthalmia, Small for gestational age, Flexion contracture OMIM:601675
Microcephaly-Micromelia Syndrome
Craniosynostosis, Microphthalmia OMIM:251230
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Microphthalmia ORPHA:228390
Momo Syndrome
Abnormal bone ossification, Obesity, Bilateral microphthalmos, Large for gestational age ORPHA:2563
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Elevated circulating creatine kinase concentration, Buphthalmos, Microphthalmia, Congenital contr... OMIM:613150
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Microphthalmia ORPHA:1915
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity, Bilateral microphthalmos OMIM:600122
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Microphthalmia, Hypoplasia of the iris, Small for gestational age, Joint contrac... OMIM:251300
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Small for gestational age, Hypertriglyceri... OMIM:619573
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Inguinal hernia ORPHA:2505
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating c... ORPHA:157
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Bilateral microphthalmos, Umbilical hernia, Camptodactyly ORPHA:369891
Heart And Brain Malformation Syndrome
Microphthalmia, Camptodactyly of finger OMIM:616920
3P25.3 Microdeletion Syndrome
Microphthalmia, Knee flexion contracture ORPHA:435638
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... ORPHA:93325
Kapur-Toriello Syndrome
Failure to thrive, Microphthalmia ORPHA:2328
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Holoprosencephaly
Omphalocele, Hyponatremia, Failure to thrive in infancy, Microphthalmia, Hypoglycemia, Anophthalm... ORPHA:2162
Steinert Myotonic Dystrophy
Hypercholesterolemia, Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:273
Oculofaciocardiodental Syndrome
Flexion contracture of the 4th toe, Flexion contracture of the 2nd toe, Microphthalmia ORPHA:2712
Oculodentodigital Dysplasia, Autosomal Recessive
Failure to thrive, Microphthalmia, Abnormal dental enamel morphology OMIM:257850
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Rodrigues Blindness
Microphthalmia OMIM:268320
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Small for gestational age, Camptodactyly OMIM:619148
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Refsum Disease
Microphthalmia ORPHA:773
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Warburg Micro Syndrome 2
Microphthalmia, Flexion contracture OMIM:614225
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220