Gene Summary

Name:
amylo-1,6-glucosidase, 4-alpha-glucanotransferase
Synonyms:
1110061O17Rik,  9430004C13Rik,  9630046L06Rik

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 fasting circulating glucose level Agltm1b(EUCOMM)Wtsi HOM   Early adult 2.97×10-09
increased lean body mass Agltm1b(EUCOMM)Wtsi HOM   Early adult 8.49×10-09
increased circulating alanine transaminase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating aspartate transaminase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased heart weight Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.85×10-10
increased circulating bilirubin level Agltm1b(EUCOMM)Wtsi HOM   Early adult 8.57×10-07
increased circulating iron level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased total body fat amount Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.38×10-07
preweaning lethality, incomplete penetrance Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating amylase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.46×10-06
increased kidney weight Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.98×10-09
increased circulating alkaline phosphatase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal gait Agltm1b(EUCOMM)Wtsi HOM Early adult 8.40×10-05
cataract Agltm1b(EUCOMM)Wtsi HOM Early adult 4.05×10-14
decreased bone mineral density Agltm1b(EUCOMM)Wtsi HOM   Early adult 4.41×10-06
decreased circulating glucose level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
impaired glucose tolerance Agltm1b(EUCOMM)Wtsi HOM   Early adult 3.31×10-11
increased circulating creatine kinase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 2.59×10-05
increased circulating cholesterol level Agltm1b(EUCOMM)Wtsi HOM   Early adult 6.10×10-05
decreased bone mineral content Agltm1b(EUCOMM)Wtsi HOM   Early adult 4.61×10-08
tremors Agltm1b(EUCOMM)Wtsi HET   Early adult 2.99×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Heart  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
uterus 0.37% (2 of 535)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Echo

M-Mode Images

36 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Agl 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 Agl by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Glutathionuria
Tremor OMIM:231950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Osteoporosis, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Distal muscle weakness, Pelvic girdle amyotrophy,... OMIM:616199
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Neutral Lipid Storage Disease With Myopathy
Proximal muscle weakness, Gowers sign, Hepatomegaly, Elevated circulating creatine kinase concent... OMIM:610717
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... OMIM:617156
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated... OMIM:500009
Nonaka Myopathy
Distal muscle weakness, EMG: myopathic abnormalities, Elevated circulating creatine kinase concen... OMIM:605820
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Gowers sign, Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carni... OMIM:212140
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Paresthesia, Insulin resistance, Arthralgia ORPHA:2398
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Malaria
Gait imbalance, Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyper... ORPHA:673
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly, Muscle weakness OMIM:261750
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, H... OMIM:616278
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... OMIM:619868
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Myopathy, Spheroid Body
Broad-based gait, Distal muscle weakness, Elevated circulating creatine kinase concentration, Nec... OMIM:182920
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Progressive cerebellar ataxia, Acute hepatic failure, Hepatosplenomegaly, Generalized limb muscle... ORPHA:466794
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Hypert... ORPHA:280356
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased varia... OMIM:612937
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Fatigable weakness of neck muscles, Ataxia, Hepatomegaly, Hyperammonemi... ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato... ORPHA:370
Gne Myopathy
Lower limb amyotrophy, EMG: myopathic abnormalities, Scapular winging, Increased variability in m... ORPHA:602
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Hepatic failure, Gait ataxia, Hepatic fibrosis OMIM:616719
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Incre... OMIM:620010
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Progressive cerebellar ataxia, Hepatomegaly ORPHA:67046
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Episodic tachypnea, Hyperammonemia, Increased serum pyruvate, Elevated ... OMIM:615160
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia, Bilirubinuria, Porphyrin... ORPHA:3111
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Kyphosis, Hip contracture, Tip-toe gait, Proximal muscle weakness in lower limb... OMIM:615290
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Difficulty walking, Re... OMIM:617087
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myalgia, Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Chorea, Hyperlor... ORPHA:369840
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Elevated circulating creatine kinase... ORPHA:79240
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia,... OMIM:618120
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Limb-girdle ... ORPHA:399058
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hypoalbu... ORPHA:79319
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Elevated circulating... OMIM:300718
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor ORPHA:210571
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Galactokinase Deficiency
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Nuclea... ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... ORPHA:254864
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... OMIM:615883
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur... OMIM:251880
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Hyperammonemia ORPHA:35
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Chorea, Benign Familial
Chorea OMIM:215450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Elevated circulating creatine kinase ... OMIM:600175
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Myopathy, Myosin Storage, Autosomal Dominant
Scapuloperoneal amyotrophy, Mildly elevated creatine kinase, EMG: myopathic abnormalities, Pelvic... OMIM:608358
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:212138
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Fatig... OMIM:606069
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Leth... OMIM:246900
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Increa... ORPHA:264580
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Elevated circulating creatine kinase concentration, Gait disturbance, Cataract, Inc... OMIM:617404
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly OMIM:614741
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia, Hypoglycemic seizures OMIM:609734
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemia, Decrease... ORPHA:2394
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Congenital Generalized Lipodystrophy
Failure to thrive, Bone cyst, Hepatomegaly, Hyperinsulinemia, Increased C-peptide level, Hypertri... ORPHA:528
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Myopathy, Hepatic steatos... ORPHA:26792
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... OMIM:619111
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... OMIM:616828
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Chest pain, Pneumoni... ORPHA:454836
Infantile Sialic Acid Storage Disease
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Osteopenia, Conjugated hyperbi... OMIM:269920
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Myalgia, Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: m... OMIM:606612
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:266150
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Hepatic failure, Sple... OMIM:278000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Microvesicular hepatic steatosis, Tachypnea, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipide... ORPHA:156
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoal... OMIM:602579
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Elevated circulating creatine kinase concentr... OMIM:609115
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin, Hepatomegaly, Renal insufficiency ORPHA:890
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Gowers sign, Nemaline bodies, Distal muscle weakness, EMG: my... ORPHA:97240
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Ins... ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Lower limb muscle weakness, Hypogl... OMIM:617950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Enlarged kidney, Elevated circulating creatinine concentration, Cataract, Cardiomeg... OMIM:608836
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia OMIM:616113
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Multiple renal cysts ORPHA:2924
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis, Lower limb muscle weakness, Gait disturbance, Skeletal muscle atrophy OMIM:611225
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Neonatal hypoglycemia, Apneic episodes in... ORPHA:348
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Elevated circulating creatine kinase concentration, Scoliosis, Inc... OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Myalgia, Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Elevat... OMIM:607155
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... OMIM:616860
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Distal ... OMIM:256810
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... OMIM:261680
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Osteopenia, Acroosteolysis o... OMIM:248370
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Myalgia, Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Abnormality of the shoulder... ORPHA:206546
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypocalcemia, Hepatomegaly, Episodic tachypnea, Hypoproteinemia, Hyperammon... ORPHA:26793
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Decreased DLCO, Cough, Tachypnea, Restrict... OMIM:616414
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Muscle... OMIM:615704
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Neck muscle weakness, Hepatomegaly, Muscle weakness ORPHA:158
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Aminoaciduria, Right ventricular hypertr... OMIM:613404
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... OMIM:201450
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia... ORPHA:77296
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis OMIM:619858
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa... OMIM:617049
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice, Let... OMIM:616483
Lipodystrophy, Familial Partial, Type 6
Proximal muscle weakness, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dyst... OMIM:615980
Hypermethioninemia Due To Adenosine Kinase Deficiency
Failure to thrive, Atrial septal defect, Hyperbilirubinemia, Pulmonic stenosis, Hypermethioninemia OMIM:614300
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... OMIM:208920
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... ORPHA:159
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Wolcott-Rallison Syndrome
Double outlet right ventricle, Chronic kidney disease, Decreased body weight, Hepatomegaly, Hyper... ORPHA:1667
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets OMIM:619232
Dpm1-Cdg
Ataxia, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Mus... ORPHA:79322
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal... ORPHA:247598
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture, Hyperglycemia OMIM:618856
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Laron Syndrome
Hypoplasia of penis, Osteoarthritis, Truncal obesity, Hypoglycemia, Hypercholesterolemia ORPHA:633
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Fatigue, Abnormality of iron homeostasis, Elevated hepatic tra... ORPHA:75563
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:766
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Elevated carcinoembryonic antigen level, Acute infectious pneumon... ORPHA:264675
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Hypercholesterolemia ORPHA:254531
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Lethargy OMIM:615026
Propionic Acidemia
Apnea, Pancreatitis, Hepatomegaly, Hyperammonemia, Limb hypertonia, Tachypnea, Hypoglycemia, Hype... OMIM:606054
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Maternally-Inherited Diabetes And Deafness
Ataxia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Cataract, Proteinuri... ORPHA:225
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Hypoketotic hypoglycemia, Eleva... OMIM:609015
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... ORPHA:2089
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, D... OMIM:251900
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Beta-Ketothiolase Deficiency
Ataxia, Hepatomegaly, Hyperammonemia, Tachypnea, Hypoglycemia, Cough, Hyperuricemia, Body odor, H... ORPHA:134
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Osteoporosis... OMIM:232200
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolem... OMIM:607765
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increased urinary porph... OMIM:618892
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Citrullinemia Type I
Torticollis, Ataxia, Hepatic failure, Hyperammonemia, Tachypnea, Elevated plasma citrulline ORPHA:247525
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Insulin resistance, Osteoporosis, Truncal obesity, ... ORPHA:73272
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Laurence-Moon Syndrome
Ataxia, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat... ORPHA:101330
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... OMIM:618641
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... ORPHA:567983
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creati... OMIM:253601
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia, Muscle we... OMIM:619046
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Fatigable weakness of... ORPHA:26791
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Abnormal serum bile... ORPHA:79303
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Unsteady gait OMIM:610090
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, C... OMIM:618138
Acute Lung Injury
Respiratory distress, Increased circulating surfactant protein level, Elevated circulating C-reac... ORPHA:178320
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Urinary bladder sphincter dysfunction, Ataxia, Elevated alpha-fetoprotein, Elevat... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... ORPHA:567548
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Conjugate... ORPHA:53035
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Elevated hepatic transaminase, Methylmalonic acidemia, Dicarboxylic acidemia ORPHA:289504
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... ORPHA:75840
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Neutral Lipid Storage Myopathy
Hepatomegaly, Abnormal circulating creatine kinase concentration, Difficulty walking, Fatty repla... ORPHA:98908
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Abnormality of the lower urinary tract, Hiatus hernia, Hyperbilirubinemia ORPHA:101009
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Ataxia, Loss of ambulation, Tachypnea, Abnormal... OMIM:615838
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, R... ORPHA:79644
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hep... OMIM:246200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatomegaly OMIM:618528
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Distal upper limb amyotrophy, Distal lower limb am... ORPHA:101075
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... OMIM:619902
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Fatigue, Tachypne... ORPHA:20
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Fatigue, Elevated hepatic transaminase, Type ... OMIM:618549
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Scapular winging, Difficulty walking, Ac... ORPHA:610
Sandhoff Disease
Kyphosis, Ataxia, Hepatomegaly, Splenomegaly ORPHA:796
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Hepatomegaly, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Hodgkin Lymphoma
Ataxia, Hepatomegaly, Splenomegaly, Fatigue, Cough, Chest pain, Dyspnea, Bone pain ORPHA:98293
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, P... OMIM:617713
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Tachypnea, Hyperammonemia OMIM:615751
Abetalipoproteinemia
Broad-based gait, Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, H... ORPHA:14
Atypical Rett Syndrome
Kyphosis, Loss of ambulation, Inability to walk, Episodic tachypnea, Scoliosis, Gait disturbance,... ORPHA:3095
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:99901
Senior-Loken Syndrome
Ataxia, Congenital hepatic fibrosis ORPHA:3156
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis ORPHA:88643
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Gait ataxia, Respiratory... ORPHA:363400
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Maple Syrup Urine Disease
Ataxia, Pancreatitis, Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulat... OMIM:248600
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Atrial septal defect, Renal tubular acidosis, Renal tubular atrophy, Right ven... OMIM:208085