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Gene: Alms1 MGI:1934606

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Alms1tm1b(EUCOMM)Hmgu HOM Early adult 1.49×10-07
increased circulating amylase level Alms1tm1b(EUCOMM)Hmgu HOM Early adult 2.79×10-09

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 0.68% (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.

Embryo LacZ

LacZ images wholemount

8 Images

View images
Echo

M-Mode Images

20 Images

View images
Adult LacZ

LacZ Images Wholemount

11 Images

View 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Pigmentary retinopathy, Otitis media,... OMIM:203800
Alström Syndrome
Hyoplasia of the Leydig cells, Severe sensorineural hearing impairment, Retinal pigment epithelia... ORPHA:64

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
Maternal diabetes, Maturity-onset diabetes of the young 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
Rod-cone dystrophy, Obesity 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
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal bloo... OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
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
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Stargardt Disease 3
Macular flecks, Macular dystrophy, 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
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
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
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Obesity, Tubulointerstitial nephritis, Rod-cone dystrophy, Macular... OMIM:616629
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Obesity OMIM:615989
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:615995
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus 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
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity ORPHA:71529
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Galactosemia I
Hypergalactosemia, Decreased liver function, Hepatomegaly, Albuminuria, Aminoaciduria, Increased ... OMIM:230400
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Obesity, Retinal detachment, Retinal d... OMIM:616188
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Infertility, Loss of gluteal subcu... ORPHA:280356
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Mody
Exocrine pancreatic insufficiency, Glycosuria, Abnormal C-peptide level, Abnormal oral glucose to... ORPHA:552
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... 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
Renal agenesis, Renal cyst, Recurrent otitis media, Retinal degeneration, Hearing impairment, Abn... OMIM:615993
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Pigmentary retinopathy, Otitis media,... OMIM:203800
Deafness, Congenital, With Total Albinism
Hearing impairment, Hypogonadism OMIM:220900
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:615987
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Infertility, Insulin resistance, Hypercholesterolemia, Azoospermia, Obesity, O... OMIM:615703
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Congenital sensorineural hearing impairment OMIM:606528
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Truncal obesity ORPHA:75858
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:605231
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... ORPHA:97341
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hepatomegaly, Hy... OMIM:617872
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Polycystic ovaries, Abnormal circulating lipid concen... OMIM:608709
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Glycogen Storage Disease Ixa1
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Nephronophthisis 18
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Retinitis, Thickened glomerular base... OMIM:615862
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Hemochromatosis, Neonatal
Hepatic failure, Hypoglycemia, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice,... OMIM:231100
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Delayed puberty, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis,... ORPHA:369
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71526
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... ORPHA:276556
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Obesity, Macular dystrophy OMIM:615983
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Hypoplasia of penis, ... ORPHA:181393
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Insulin resistance, Hyp... OMIM:612526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Proteinuria, Renal interstitial amyloid deposits, ... ORPHA:85450
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Typ... OMIM:604367
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Cholestasis, Adrenal hypop... OMIM:609734
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Elevated ... OMIM:617156
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Sensorineural hearing impairment, Conductive hearing... ORPHA:791
Glycogen Storage Disease Iii
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616719
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:614322
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Hepatomegaly, Insulin-resistant diabetes mellitus, Decreas... ORPHA:79085
Retinitis Pigmentosa 59
Micropenis, Sensorineural hearing impairment, Cystoid macular edema, Cryptorchidism, Hepatomegaly... OMIM:613861
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Obesity, Overweight, Retinal atrophy, Rod-cone dystrop... OMIM:617406
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Pancr... ORPHA:730
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Abnormal labia majora morphology, Hepatic steatosis, Hyperlipidemia, Insulin resis... ORPHA:435660
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia OMIM:602579
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Syndromic X-Linked Intellectual Disability 7
Micropenis, Cryptorchidism, Obesity, Hypoplasia of penis, Hypogonadism ORPHA:85274
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615982
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Supernumerary nippl... OMIM:614376
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Obesity OMIM:615996
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Portal fibrosis, Elev... OMIM:616278
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Opt... OMIM:610951
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Methylmalonic acidemia, Hepatomegaly, Tubulointerstitial nephritis, Failu... OMIM:251000
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Diabetes mellitus OMIM:610717
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Cystic rena... ORPHA:228308
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Diabetes And Deafness, Maternally Inherited
Vestibular dysfunction, Sensorineural hearing impairment, Type II diabetes mellitus, Hyperglycemi... OMIM:520000
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Postprandial hyperglycemia, Abnormal oral glucose tol... ORPHA:2298
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615981
Perlman Syndrome
Low-set ears, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypop... ORPHA:2849
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Cystic renal dysplasia, Elevat... ORPHA:157
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Po... ORPHA:435651
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration, Central heterochromia, Small for gestational age OMIM:275400
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Renal Fanconi... ORPHA:263455
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Hypogonadism, Hypoglycemia, Central hypothyroidism OMIM:616113
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Bardet-Biedl Syndrome 22
Large for gestational age, Rod-cone dystrophy, Obesity, Macular hypopigmentation OMIM:617119
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Hepatic fibrosis, Hy... ORPHA:79319
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intramuscular fat, Hyperglyc... OMIM:151660
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Retinopathy Of Prematurity
Abnormal macular morphology, Small for gestational age, Retinal arteriolar tortuosity, Vitreous h... ORPHA:90050
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, EEG abnormality, Hypoglycemia, Cholestasis, Cholangitis, Decrea... OMIM:124000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Fanconi-Bickel Syndrome
Glycosuria, Hepatic failure, Diabetes mellitus, Postprandial hyperglycemia, Renal tubular acidosi... ORPHA:2088
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Optic atrophy OMIM:616211
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Irregular men... OMIM:615238
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism, Enlarged kidney, Nephrotic syndrome, Cholestasis, Proteinu... ORPHA:85445
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Elevated circulating acylcarnitine concentration, Increa... ORPHA:26792
Donohue Syndrome
Fasting hypoglycemia, Low-set ears, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperpla... OMIM:246200
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Elevated circulating alanine aminotransferase concentration, Portal in... OMIM:613759
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619048
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hernia of the abdominal wall, Hypoplas... ORPHA:3055
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Sensorineural hearing impairment, Obesity, ... ORPHA:3085
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Retinitis Pigmentosa 7
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retin... OMIM:608133
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Glycogen Storage Disease Ia
Enlarged kidney, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular... OMIM:232200
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased testicular si... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 36
Sensorineural hearing impairment, Failure to thrive, Hypoglycemia OMIM:617950
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Bardet-Biedl Syndrome 9
Irregular menstruation, Retinal degeneration, Obesity, Truncal obesity, Rod-cone dystrophy, Renal... OMIM:615986
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Diabetes ... OMIM:610628
Spastic Paraparesis And Deafness
Hearing impairment, Hypogonadism OMIM:312910
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Diabetes mellitus, Hypogonadism, Abno... ORPHA:79230
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cystoid ... OMIM:611040
Glycogen Storage Disease Ib
Enlarged kidney, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular... OMIM:232220
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal degeneration, Obesity, Chorioretinal atrophy OMIM:303110
Laurence-Moon Syndrome
Cryptorchidism, Sensorineural hearing impairment, Obesity, Hypoplasia of penis, Low-set, posterio... ORPHA:2377
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Elevated circulating creatinine concentration, Proteinuria... ORPHA:449395
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Temple Syndrome
Recurrent otitis media, Flexion contracture, Small for gestational age, Hypercholesterolemia, Cry... OMIM:616222
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testost... ORPHA:179494
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Lipodystrophy, Nephrotic syndrome, Loss of facial adipose tissue, Hematuria, Proteinuria, Membran... OMIM:613913
Summitt Syndrome
Obesity OMIM:272350
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Hypoglycemia, Nephrocalcinosis, Glomerular sclerosis... OMIM:276700
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Pediatric Hepatocellular Carcinoma
Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retin... OMIM:251270
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age, Proteinuria, Acute kidn... ORPHA:275555
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Micropenis, Obesity, Decreased serum leptin, Hypogonadism, Decreased testicul... OMIM:614962
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Lysinuric Protein Intolerance
Oroticaciduria, Hepatic failure, Proteinuria, Renal amyloidosis, Membranous nephropathy, Pancreat... ORPHA:470
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Sensorineural hearing impairment, Hydronephrosis, Decreased liver function, Du... OMIM:617093
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Hypothyroidism, Adrenal insufficiency, Nephrotic syndrome, Hypoglyce... OMIM:617575
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Irregular menstruation, Cholestasis, Portal fibrosis, Oligomenorrhea, Renal tubular... ORPHA:264580
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Abcd Syndrome
Large for gestational age, Hypopigmentation of the fundus, Albinism, Aganglionic megacolon, Abnor... OMIM:600501
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Retinopathy, Renal tubular dysfunction, Moderate albuminuria, Pancreatic hypoplasia, ... ORPHA:99885
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
Macular Degeneration, Age-Related, 3
Drusen, Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity OMIM:608895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating creatinine concentration, Nonketotic hypoglycemia, Hydronephro... OMIM:608836
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Obesity, Pigmentary retinopathy OMIM:600151
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Macular d... OMIM:256730
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Hearing impairment OMIM:223500
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles OMIM:221300
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Hepatomegaly, ... OMIM:212140
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Cholestasis, Portal fibrosis, Oligomenorrhea, Renal tubular acidosis, Fas... ORPHA:370
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Abnormality of iron homeostasis, Diabetes mell... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Polycystic ovaries, Proteinuria, Hyper... ORPHA:79086
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic fibrosis, ... OMIM:615630
Mehmo Syndrome
Large earlobe, EEG abnormality, Micropenis, Cryptorchidism, Obesity, Hypoplasia of penis, Externa... ORPHA:85282
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Optic disc pa... OMIM:619389
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Abnormal retinal morp... ORPHA:251004
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Irregular menstruation, Proteinuria, Pancrea... ORPHA:79259
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Renal tubular acidosis, Fasting hypoglycemia, Irregular menstruation, Polyc... ORPHA:79240
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Cirrhosis ORPHA:363400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotran... OMIM:278000
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hypogonadism ORPHA:1383
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Myoglobinuria, Re... ORPHA:228302
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Obesity, Retinal coloboma OMIM:601794
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary amenorrhea OMIM:616033
Hernández-Aguirre Negrete Syndrome
Low-set, posteriorly rotated ears, Obesity, Delayed puberty ORPHA:2139
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Cerebellar atrophy, Retinal degeneration OMIM:256731
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level, Obesity,... OMIM:600955
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Cryptorchidism, Increased urinary... OMIM:307030
Nephronophthisis 2