Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lipin 1
Synonyms:
Lipin1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lpin1 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 Lpin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genetic Recurrent Myoglobinuria
Hypocalcemia, Elevated aldolase level, Increased circulating lactate dehydrogenase concentration,... ORPHA:99845
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Increased circulating lactate dehydrogenase concentration OMIM:268200

The table below shows human diseases predicted to be associated to Lpin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Gait disturbance, Insulin res... ORPHA:2398
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Null Syndrome
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Decreased nerve conduction veloci... ORPHA:280234
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... OMIM:601098
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Lower limb pain, Demyelinating sensory neuropathy, Progressive ga... ORPHA:208981
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Difficulty walking, Steppage gait OMIM:618279
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Decr... OMIM:609311
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Difficulty walking, Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sen... OMIM:608323
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Ataxia, Peripheral demyelination, CNS demyelination OMIM:165200
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, St... OMIM:610100
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amen... OMIM:612526
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... OMIM:607706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyeli... ORPHA:99939
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... OMIM:600882
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Steppage gait OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contracture, Onio... OMIM:609260
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Steppage gait OMIM:616039
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... OMIM:162500
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental periphe... OMIM:145900
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... ORPHA:99953
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination, Inability to walk ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat... ORPHA:79085
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Oligomenorrhea, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistan... OMIM:613877
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... OMIM:618912
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait OMIM:302801
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity,... ORPHA:101081
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Congenital Generalized Lipodystrophy
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hypertrophy, Polycystic o... ORPHA:528
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Steppage gait OMIM:613641
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... OMIM:604367
Neuronopathy, Distal Hereditary Motor, Type Vc
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:619112
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Onion bulb formation, Decreased motor nerve conduction veloci... OMIM:618184
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... ORPHA:435660
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neuropathy, Lowe... OMIM:600361
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Steppag... OMIM:607677
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... ORPHA:98890
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Steppage gait OMIM:607731
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Decreased nerve conduction velocity, Steppage gait ORPHA:352675
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Premature coronary artery atherosclerosis, Increased LDL ... OMIM:615703
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Joint hypermobility OMIM:608895
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Gait distu... OMIM:311070
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hyperlipidemia, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, D... OMIM:604484
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Joint hyperflexibility, Decreased nerve conduction velocity ORPHA:1188
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Lipodystroph... OMIM:615238
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Broad-based gait, Joint contracture of the hand, Optic atrophy, Gait ataxia, Peripheral demyelina... OMIM:258650
Rft1-Cdg
Failure to thrive, Ataxia, Cerebral cortical atrophy, Hepatomegaly, Cerebral atrophy, Arthrogrypo... ORPHA:244310
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait, EEG with gen... ORPHA:2386
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... OMIM:615924
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Flexion contracture, Dy... OMIM:618404
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Loss of ambulation, Flexion contracture, Decreased number of small per... ORPHA:101097
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... ORPHA:79083
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... ORPHA:497764
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity... ORPHA:101077
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Pancreatitis, Dysmenorrhea, Cellulitis, Hepatomegaly, Splenom... ORPHA:2348
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Decrease... ORPHA:435651
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity OMIM:183050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Broad-based gait, Decreased nerve conduction velocity, Tip-toe gait, Limited knee... ORPHA:435387
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1368
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Abdominal distention, Increased hepatic glycogen... ORPHA:369
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Steppage gait OMIM:606595
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Feeding dif... OMIM:616222
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Peripheral demyelination, Axonal loss OMIM:616684
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... OMIM:615381
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Steppage gait OMIM:302802
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Unsteady gait ORPHA:139536
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... ORPHA:2457
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Accelerated atherosclerosis, Lip... ORPHA:280365
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Pathologic fracture, Gait disturbance, Abnormal upper motor neuron morphology, P... OMIM:221770
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity OMIM:611105
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Peripheral axonal neuropathy, Optic atrophy, Difficulty walking, Steppage gait OMIM:615035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Elbow flexion contracture, Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Autosomal Recessive Spastic Paraplegia Type 21
Gait disturbance, Abnormality of peripheral nerve conduction, Difficulty walking ORPHA:101001
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Camptodactyly of finger, Decreased nerve conduction velocity ORPHA:2928
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... OMIM:302800
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination, Steppage gait OMIM:607736
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Sensory ... ORPHA:139578
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature o... OMIM:615889
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Elevate... ORPHA:90117
Roussy-Lévy Syndrome
Limb ataxia, Decreased motor nerve conduction velocity, Difficulty walking, Gait ataxia, Unsteady... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding dif... ORPHA:79237
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Constipation, Flexion contracture, ... OMIM:613327
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity... ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Steppage gait, Facial palsy OMIM:607684
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Flexion contracture of finger, Decreased sensory nerve conduction veloc... OMIM:609033
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance OMIM:300660
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Decreased acid sphingomyelinase activity, ... OMIM:607616
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Male infertility, Inguinal hernia OMIM:261550
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion ... OMIM:619851
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... OMIM:604168
Krabbe Disease
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, CNS demyelination, Periphera... OMIM:245200
Behr Syndrome
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Progressi... OMIM:210000
Autosomal Dominant Spastic Paraplegia Type 17
Knee pain, Abnormal motor nerve conduction velocity, Spastic gait ORPHA:100998
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Cerebral a... ORPHA:521406
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Steppage gait OMIM:118300
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Ataxia, Abnormal nerve conduction velocity ORPHA:99014
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Ataxia-Pancytopenia Syndrome
Ataxia, Dysmetria, Decreased nerve conduction velocity, Unsteady gait OMIM:159550
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Inability to walk, Abnormal sensory nerve conduction velocity ORPHA:276435
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... OMIM:270550
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Brittle hair, Alopecia, Flexi... OMIM:608612
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Yuan-Harel-Lupski Syndrome
Broad-based gait, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Gait ... OMIM:616652
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Dysmetria, Hyperextensibility of the finger joints, ... OMIM:618356
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Diarrhea, Hypertri... ORPHA:75234
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Opti... OMIM:612674
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Men... ORPHA:90970
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Foot acroosteol... OMIM:201300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Decreased distal sensory nerve action potential, Peripheral axonal neuropathy OMIM:618400
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:608594
Ddost-Cdg
Failure to thrive, Oromotor apraxia, Elevated hepatic transaminase, Lipodystrophy, Tremor, Primar... ORPHA:300536
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Osteomye... OMIM:162400
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:269700
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Cerebellar atrophy, Unsteady gait OMIM:615945
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck,... OMIM:248370
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse hair, Orthostatic hypotension, Babinski sign, Diarrhe... OMIM:606721
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction v... OMIM:603472
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Acromicric Dysplasia
Joint stiffness, Delayed skeletal maturation, Decreased nerve conduction velocity ORPHA:969
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal... ORPHA:370
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Gait... OMIM:616516
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Hepatic failure, Frequent falls, Tremor, Gait ataxia, Hepatic... OMIM:616719
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Flexion contracture, Decreased compound muscle action potential amplitude, Wa... OMIM:603511
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increa... ORPHA:264580
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... OMIM:203800
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... OMIM:615768
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Small intestinal dysmotility, Diarrhea, Vomiting, Weight loss, Ga... ORPHA:298
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Donohue Syndrome
Nail dysplasia, Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia,... OMIM:246200
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formati... OMIM:610532
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:423296
Multifocal Motor Neuropathy
Motor conduction block, Limited wrist extension ORPHA:641
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Arthritis, Decreased nerve conduction velocity,... ORPHA:85446
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... ORPHA:79299
Leukodystrophy, Hypomyelinating, 2
Ataxia, Demyelinating motor neuropathy, Leukodystrophy, Decreased motor nerve conduction velocity... OMIM:608804
Hemochromatosis, Type 4
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mel... OMIM:606069
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Tracheomalacia, Peripheral axonal neuro... OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Limb ataxia, Abnormal nerve conduction velocity OMIM:619862
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... ORPHA:324575
Celiac Disease, Susceptibility To, 1
Infertility, Ataxia, Hypocalcemia, Failure to thrive, Abdominal distention, Abdominal pain, Alope... OMIM:212750
Autosomal Recessive Spastic Paraplegia Type 25
Upper limb pain, Abnormality of peripheral nerve conduction, Lower limb pain ORPHA:101005
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... OMIM:145750
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity OMIM:605726
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelination, Facial ... OMIM:601170
H Syndrome
Amenorrhea, Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Micropenis, Hepatosplenomegaly... ORPHA:168569
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Hepatocellular adenoma, Polycystic ovaries, Increased body weig... ORPHA:79240
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Elevated circulating alkaline ph... ORPHA:2088
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, CNS demyelination, Prolonged brainst... ORPHA:206448
Cimdag Syndrome
Cholelithiasis, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Cerebral atrophy, Pontoce... OMIM:619273
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... OMIM:144300
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Peripheral demyelination, Axonal loss OMIM:617672
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis, Ankle... ORPHA:319514
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Peripheral demyelin... OMIM:250100
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Intention tr... ORPHA:98762
Cog4-Cdg
Ataxia, Elevated circulating alkaline phosphatase concentration, Recurrent infection of the gastr... ORPHA:263501
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Episodic vomiting, Hypoglycemia, Hypertriglycer... OMIM:307030
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hand tremor ORPHA:401840
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed thelarche, Diab... OMIM:616033
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Brain atrophy, Left ventricular hypertrophy, Elevated circulatin... OMIM:619048
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... ORPHA:276575
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Wrist flexion contracture OMIM:619519
Smith-Magenis Syndrome
Motor stereotypy, Abnormality of the thyroid gland, Constipation, Hypertriglyceridemia, Synophrys... OMIM:182290
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hepatomegaly, Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesi... ORPHA:67046
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Primary amenorrhea, Secondary amenorrhea, ... ORPHA:79239
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98853
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Abetalipoproteinemia
Ataxia, Peripheral demyelination, CNS demyelination OMIM:200100
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Truncal ataxia, Chorea, Elevated hepatic transaminase, Difficulty walking, Waddling... ORPHA:369840
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased amplitude of s... OMIM:256840
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... ORPHA:276580
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Splenomegaly, Inflammation o... OMIM:300635
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Glycosuria, Secondary amenorrhea, Abnormality of ci... ORPHA:79474
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, Decreased motor nerve conduction velocity OMIM:270685
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Elevated circulating alkaline phosphatase concentrati... ORPHA:263455
Adrenomyeloneuropathy
Female sexual dysfunction, Abnormal circulating fatty-acid concentration, Axonal degeneration, Ba... ORPHA:139399
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Gliosis, Joint contracture of the hand, Flexion contracture, Small ... OMIM:214150
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Babinsk... OMIM:615491
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... OMIM:615157
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Feeding ... OMIM:619013
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Cirrhosis... ORPHA:90003
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Tremor, Ab... OMIM:212065
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Flexion contracture, Onion bulb for... OMIM:218000
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Progressive cerebellar... ORPHA:101111
Combined Saposin Deficiency
Neuronal loss in central nervous system, Hepatomegaly, Splenomegaly, Myoclonus, Babinski sign, Hy... OMIM:611721
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination OMIM:617731
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Abdominal distention, Hepatic failure, Steatorrhea, Cachexia... ORPHA:75233
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... OMIM:608104
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypertonia, Ketotic hypoglycemia, Hepatic steatosis, Dystonia ORPHA:26792
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Elevated circulating C-reactive protein concentrat... OMIM:256040
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Optic atrophy, Gait... ORPHA:98755
Isolated Polycystic Liver Disease
Hepatomegaly, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Polycystic liver dis... ORPHA:2924
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pain insensitivity, Cerebellar vermis atrophy, Impaired vibration sensation in the lower ... ORPHA:94124
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Alopecia, Insulin resistance, Generalized lipodystrophy, Nail dystrophy, Delayed ... ORPHA:90154
Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Abnormality of extrapyramidal motor functi... ORPHA:352
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Prolonged neonatal jaundice, Hepatomegaly, Increased LDL cholesterol c... OMIM:616828
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atrophy, Cerebellar atrophy, Abnormali... OMIM:615362
Smith-Magenis Syndrome
Motor stereotypy, Precocious puberty, Constipation, Gastroesophageal reflux, Gait disturbance, Hy... ORPHA:819
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Peripheral demyelination OMIM:616733
Adiposis Dolorosa
Obesity, Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Hypersplenism, Incr... OMIM:610539
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Dysmetria, Camptodactyly of finger, Osteoporosis, Abnormality of... ORPHA:48431
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Steppage gait, Axonal loss OMIM:614455
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Aortic atherosclerotic lesion, In... ORPHA:363618
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodys... OMIM:617591
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Optic atrophy, Atypical scarrin... ORPHA:791
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Hypoalbuminemi... OMIM:607250
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Abnormal nerve conduction velocity ORPHA:2926
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance, Functional intestina... ORPHA:199276
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Dysdi... OMIM:603516
Lysosomal Acid Lipase Deficiency
Stroke, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, Di... ORPHA:275761
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Werner Syndrome
Ovarian neoplasm, Lipodystrophy, Secondary amenorrhea, Abnormal cerebral vascular morphology, Hyp... ORPHA:902
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Chylomicron Retention Disease
Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transa... ORPHA:71
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... ORPHA:3085
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia OMIM:618856
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fa... ORPHA:189439
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Spasticity, Hepatic s... OMIM:617093
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Leu... OMIM:169500
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... OMIM:615643
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Secondary amenorrhea, Hypercholesterolemia, Inappropriately normal thyroid-stimulat... OMIM:301033
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy OMIM:617917
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Ca... OMIM:604320
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Sialidosis Type 1
Ataxia, EEG abnormality, Decreased nerve conduction velocity, Gait disturbance, Delayed skeletal ... ORPHA:812
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior horn cells... OMIM:118301
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Ataxia, Micropenis, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hy... OMIM:617575
Aromatase Deficiency
Generalized hirsutism, Female infertility, Hyperlipidemia, Eunuchoid habitus, Ambiguous genitalia... ORPHA:91
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... OMIM:610245
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, Hepatomegaly, Babinski sign, Diffuse hepatic steatosis, Elevated hepatic transaminase... OMIM:264470
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Arthrogryposis-like hand anomaly, Peripheral axonal neuropathy, Craniofacial... OMIM:620011
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Peripheral hypomyelination, Sensory axonal neuropathy, Wrist... OMIM:618733
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Hepatomegaly, Micronodular cirrhosis, Alopecia, Abnormal circulating creatine kinase conc... ORPHA:98907
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus OMIM:616187
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Sparse hair, Dysmetria, Abnormal circulating... OMIM:616541
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Dysmyelinating leukodys... OMIM:609136
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... OMIM:603813
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Abdominal distention, Feeding difficulties, Hepatic failure, Cholestasis, Elevated ... OMIM:618528
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure,... OMIM:256810
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... OMIM:603471
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Hyperinsulinemi... ORPHA:2849
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Werner Syndrome
Premature arteriosclerosis, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransfer... OMIM:277700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... OMIM:617145
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Flexion contracture of finger, Truncal titubation, Impaired vibration sensation in the lo... ORPHA:88628
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic islet hyper... ORPHA:276556
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Decreased nerve conduction velocity, Flexion contracture OMIM:615368
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, Nausea and vomiting, Multi... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-Co... ORPHA:71212
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Inability to walk, Osteomyelitis, Abnormality of the autonomic nervous system, Li... ORPHA:36386
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysme... OMIM:277460
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Difficulty walking, Decreased nerve conduction velocity, Unsteady ... ORPHA:600
Wilson Disease
Failure to thrive, Clumsiness, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Abno... ORPHA:905
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Decreased nerve conduction velocity ORPHA:1933
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... ORPHA:79263
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Diabetes Mellitus, Permanent Neonatal, 3
Interictal epileptiform activity, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Hypermanganesemia With Dystonia 2
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Limb joint contracture, Achi... OMIM:617013
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait OMIM:256600
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Failure to thrive, ... OMIM:267700
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Hepatomegaly, Hepatic failure, E... OMIM:277900
Dysbetalipoproteinemia
Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Hepatomegaly, Increased ... ORPHA:412
Leprechaunism
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... ORPHA:508
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Cerebrotendinous Xanthomatosis
Paraparesis, Cholelithiasis, Ataxia, Gliosis, Premature coronary artery atherosclerosis, Axonal d... ORPHA:909
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Foam cells OMIM:245900
Sitosterolemia 2
Premature coronary artery atherosclerosis, Elevated circulating sitosterol concentration, Hyperch... OMIM:618666
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Abnormal motor nerve conduction velocity, Facial palsy, Camptodactyly of finger OMIM:614399
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Thyroid Hemiagenesis
Abdominal distention, Constipation, Umbilical hernia, Thyroid agenesis, Jaundice ORPHA:95719
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Constipation, Hypospadias, Optic nerve hypoplasia, Increased ci... OMIM:618156
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Peripheral demyelination, CNS demyelination OMIM:220111
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... OMIM:174050
Hurler-Scheie Syndrome
Limitation of joint mobility, Abnormal nerve conduction velocity ORPHA:93476
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Diarrhea, Hepatocellular adenoma, Enlarged kidney, Hyperuricemia, Pol... ORPHA:79259
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Lethal Ataxia With Deafness And Optic Atrophy
Ataxia, Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreas... ORPHA:1187
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia