Gene Summary

Name:
ALMS1, centrosome and basal body associated
Synonyms:
Alstrom syndrome 1

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
increased circulating amylase level Alms1tm1b(EUCOMM)Hmgu HOM Early adult 2.72×10-09
abnormal locomotor behavior Alms1tm1b(EUCOMM)Hmgu HOM Early adult 1.49×10-07

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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)
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)
Pancreas 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)
Striatum 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)
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 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.79% (4 of 506)
aorta 0.2% (1 of 500)
bone 0.0%
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
esophagus 1.93% (7 of 362)
eye 0.0%
gall bladder 0.0%
heart 0.4% (2 of 502)
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 513)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
skeletal muscle 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
striatum 0.59% (3 of 507)
testis 0.98% (5 of 512)
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
trachea 0.57% (3 of 523)
uterus 0.39% (2 of 515)
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 1.76% (3 of 170)
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.61% (1 of 164)
forebrain 0.0%
forelimb 0.63% (1 of 158)
handplate 0.0%
head 1.73% (3 of 173)
heart 0.0%
hindbrain 1.26% (2 of 159)
hindlimb 0.64% (1 of 157)
liver 0.0%
lung 0.59% (1 of 170)
mandibular process 0.57% (1 of 176)
maxillary process 0.0%
midbrain 0.52% (1 of 191)
oral cavity 0.0%
skin 0.0%
tail 0.58% (1 of 173)
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

20 Images

Adult LacZ

LacZ Images Wholemount

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Alms1 mutations

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

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

The table below shows human diseases associated to Alms1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Alms1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Bardet-Biedl Syndrome 14
Obesity, Rod-cone dystrophy OMIM:615991
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... OMIM:615990
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Cone-Rod Dystrophy 1
Hearing impairment, Abnormality of the ear, Hypogonadism OMIM:600624
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Senior-Loken Syndrome 9
Nephronophthisis, Rod-cone dystrophy, Macular degeneration, Cholestasis, Retinal dystrophy, Tubul... OMIM:616629
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Bardet-Biedl Syndrome 12
Obesity, Rod-cone dystrophy OMIM:615989
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Abnormal abdomen morphology OMIM:600089
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... OMIM:271500
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Galactosemia I
Increased level of galactitol in urine, Decreased liver function, Failure to thrive, Hepatomegaly... OMIM:230400
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... OMIM:616188
Mody
Exocrine pancreatic insufficiency, Glycosuria, Hepatocellular adenoma, Pancreatic hypoplasia, Lar... ORPHA:552
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 16
Recurrent otitis media, External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Re... OMIM:615993
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Otitis media, Hypergonadotropic hypogon... OMIM:203800
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Bardet-Biedl Syndrome 10
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Deafness, Congenital, With Total Albinism
Hearing impairment, Hypogonadism OMIM:220900
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL ch... OMIM:615703
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Morm Syndrome
Truncal obesity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipos... OMIM:608709
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Congenital sensorineural hearing impairment, Hyperinsulinemia OMIM:606528
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycem... ORPHA:369
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis,... OMIM:231100
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Bardet-Biedl Syndrome 5
Macular dystrophy, Obesity, Rod-cone dystrophy OMIM:615983
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Insulin-resistant diab... OMIM:604367
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Galactokinase Deficiency
Sensorineural hearing impairment, Increased level of galactitol in urine, Failure to thrive, Hype... ORPHA:79237
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... OMIM:617156
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619874
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonadism OMIM:613313
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... ORPHA:791
Glycogen Storage Disease Iii
Hypoglycemia, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly OMIM:232400
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin resistance, De... ORPHA:79085
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Supernumerary nipple, Inguinal hernia, Chronic tubulointerstitial nephritis, Attenu... OMIM:614376
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Abnormal labia majora mor... ORPHA:435660
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Hypoglycem... OMIM:251000
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Bardet-Biedl Syndrome 4
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Retinitis Pigmentosa 59
Sensorineural hearing impairment, Failure to thrive, Hepatomegaly, Cystoid macular edema, Rod-con... OMIM:613861
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Bardet-Biedl Syndrome 19
Obesity, Rod-cone dystrophy OMIM:615996
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Vestibular dysfunction, Vertigo, Hyp... OMIM:520000
Bardet-Biedl Syndrome 2
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615981
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:610717
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Optic atrophy, Cerebell... OMIM:610951
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Perlman Syndrome
Low-set ears, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, T... ORPHA:2849
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... ORPHA:435651
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration, Small for gestational age OMIM:275400
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Progressive hearing impairment, Central hypothyroidism OMIM:616113
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Macular hypopigmentation, Rod-cone dystrophy OMIM:617119
Mpi-Cdg
Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fi... ORPHA:79319
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... ORPHA:90050
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, EEG abnormality, Microvesicular hepatic steatosis, A... OMIM:124000
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... ORPHA:2088
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Pro... ORPHA:528
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
Spastic Paraparesis And Deafness
Hearing impairment, Hypogonadism OMIM:312910
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovari... OMIM:246200
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... ORPHA:85445
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Hernia of the abdominal wall, Eczema, Low-set, posteriorly rotated ears, Apl... ORPHA:3055
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Increa... ORPHA:26792
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus OMIM:144800
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic ... ORPHA:3085
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Irregular menstruation, Attenuation of retinal blood ve... OMIM:615986
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Chromosome Xq21 Deletion Syndrome
Chorioretinal atrophy, Choroideremia, Obesity, Chorioretinal degeneration OMIM:303110
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... ORPHA:79230
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis OMIM:619858
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Increased extra... OMIM:204200
Temple Syndrome
Recurrent otitis media, Flexion contracture, Small for gestational age, Maturity-onset diabetes o... OMIM:616222
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Laurence-Moon Syndrome
Sensorineural hearing impairment, Type II diabetes mellitus, Hypoplasia of penis, Low-set, poster... ORPHA:2377
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Summitt Syndrome
Obesity OMIM:272350
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Progressive loss of faci... OMIM:613913
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Nephrotic syndrome, Renal tubular acidosis, Undetectable visual evoked pot... ORPHA:255249
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Bardet-Biedl Syndrome 3
Obesity, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles,... OMIM:221300
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... OMIM:614962
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotransferase concentration, En... OMIM:608836
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Sensorineural hearing impairment, Decreased liver function, Failure to thrive, Elevated hepatic t... OMIM:617093
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, Drusen OMIM:608895
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segment... OMIM:617575
Nephronophthisis 14
Retinal degeneration OMIM:614844
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... OMIM:261680
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Por... ORPHA:264580
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased carnitine level in liver, Im... OMIM:212140
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Hearing impairment OMIM:223500
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentr... OMIM:619386
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit... ORPHA:99885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Polycystic o... ORPHA:79086
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Renal tub... ORPHA:370
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Mehmo Syndrome
Large earlobe, EEG abnormality, Hypoplasia of penis, External genital hypoplasia, Micropenis, Dia... ORPHA:85282
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Hepatomegal... ORPHA:465508
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hypogonadism ORPHA:1383
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuric... ORPHA:79259
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis ORPHA:363400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hernández-Aguirre Negrete Syndrome
Obesity, Low-set, posteriorly rotated ears, Delayed puberty ORPHA:2139
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosi... OMIM:278000
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Mac... ORPHA:251004
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Obesity, Rod-cone dystrophy OMIM:601794
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Primary amenorrhea, Obesity, Ab... OMIM:619737
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Cerebellar atrophy OMIM:256731
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis... ORPHA:79240
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis OMIM:602579
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Reactive... OMIM:600955
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... OMIM:607665