Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Abcd1 MGI:1349215

Gene Summary

Name:

ATP-binding cassette, sub-family D member 1

Synonyms:

Ald, ALDP, Aldgh

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
cataract	Abcd1^{tm1a(EUCOMM)Wtsi}	HEM	Early adult	1.81×10^-06
increased blood uric acid level	Abcd1^{tm1a(EUCOMM)Wtsi}	HEM	Early adult	6.18×10^-05
abnormal lens morphology	Abcd1^{tm1a(EUCOMM)Wtsi}	HEM	Early adult	3.47×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	hemizygote	Ambiguous
Adrenal gland	N/A	homozygote	Ambiguous
Aorta	N/A	hemizygote	Not available
Aorta	N/A	homozygote	Not available
Blood vessel	N/A	hemizygote	0.0% (0 of 1)
Blood vessel	N/A	homozygote	0.0% (0 of 1)
Bone	N/A	hemizygote	0.0% (0 of 1)
Bone	N/A	homozygote	0.0% (0 of 1)
Brain	N/A	hemizygote	100% (1 of 1)
Brain	N/A	homozygote	100% (1 of 1)
Brainstem	N/A	hemizygote	Not available
Brainstem	N/A	homozygote	Not available
Brown adipose tissue	N/A	hemizygote	Ambiguous
Brown adipose tissue	N/A	homozygote	Ambiguous
Cartilage tissue	N/A	hemizygote	0.0% (0 of 1)
Cartilage tissue	N/A	homozygote	0.0% (0 of 1)
Cerebellum	N/A	hemizygote	Not available
Cerebellum	N/A	homozygote	Not available
Cerebral cortex	N/A	hemizygote	Not available
Cerebral cortex	N/A	homozygote	Not available
Eye	N/A	hemizygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Gall bladder	N/A	hemizygote	100% (1 of 1)
Gall bladder	N/A	homozygote	100% (1 of 1)
Heart	N/A	hemizygote	100% (1 of 1)
Heart	N/A	homozygote	100% (1 of 1)
Hippocampus	N/A	hemizygote	Not available
Hippocampus	N/A	homozygote	Not available
Hypothalamus	N/A	hemizygote	Not available
Hypothalamus	N/A	homozygote	Not available
Kidney	N/A	hemizygote	Ambiguous
Kidney	N/A	homozygote	Ambiguous
Large intestine	N/A	hemizygote	100% (1 of 1)
Large intestine	N/A	homozygote	100% (1 of 1)
Liver	N/A	hemizygote	0.0% (0 of 1)
Liver	N/A	homozygote	0.0% (0 of 1)
Lower urinary tract	N/A	hemizygote	100% (1 of 1)
Lower urinary tract	N/A	homozygote	100% (1 of 1)
Lung	N/A	hemizygote	100% (1 of 1)
Lung	N/A	homozygote	100% (1 of 1)
Lymph node	N/A	hemizygote	100% (1 of 1)
Lymph node	N/A	homozygote	100% (1 of 1)
Mammary gland	N/A	hemizygote	0.0% (0 of 1)
Mammary gland	N/A	homozygote	0.0% (0 of 1)
Esophagus	N/A	hemizygote	100% (1 of 1)
Esophagus	N/A	homozygote	100% (1 of 1)
Olfactory lobe	N/A	hemizygote	Not available
Olfactory lobe	N/A	homozygote	Not available
Ovary	N/A	hemizygote	Not available
Ovary	N/A	homozygote	Ambiguous
Oviduct	N/A	hemizygote	Not available
Oviduct	N/A	homozygote	100% (1 of 1)
Pancreas	N/A	hemizygote	0.0% (0 of 1)
Pancreas	N/A	homozygote	0.0% (0 of 1)
Parathyroid gland	N/A	hemizygote	0.0% (0 of 1)
Parathyroid gland	N/A	homozygote	0.0% (0 of 1)
Peripheral nervous system	N/A	hemizygote	100% (1 of 1)
Peripheral nervous system	N/A	homozygote	100% (1 of 1)
Peyer's patch	N/A	hemizygote	0.0% (0 of 1)
Peyer's patch	N/A	homozygote	0.0% (0 of 1)
Pituitary gland	N/A	hemizygote	100% (1 of 1)
Pituitary gland	N/A	homozygote	100% (1 of 1)
Prostate gland	N/A	hemizygote	0.0% (0 of 1)
Prostate gland	N/A	homozygote	Not available
Skeletal muscle tissue	N/A	hemizygote	100% (1 of 1)
Skeletal muscle tissue	N/A	homozygote	100% (1 of 1)
Skin	N/A	hemizygote	0.0% (0 of 1)
Skin	N/A	homozygote	0.0% (0 of 1)
Small intestine	N/A	hemizygote	100% (1 of 1)
Small intestine	N/A	homozygote	100% (1 of 1)
Spinal cord	N/A	hemizygote	100% (1 of 1)
Spinal cord	N/A	homozygote	100% (1 of 1)
Spleen	N/A	hemizygote	100% (1 of 1)
Spleen	N/A	homozygote	100% (1 of 1)
Stomach	N/A	hemizygote	100% (1 of 1)
Stomach	N/A	homozygote	100% (1 of 1)
Striatum	N/A	hemizygote	Not available
Striatum	N/A	homozygote	Not available
Testis	N/A	hemizygote	100% (1 of 1)
Testis	N/A	homozygote	Not available
Thymus	N/A	hemizygote	100% (1 of 1)
Thymus	N/A	homozygote	Ambiguous
Thyroid gland	N/A	hemizygote	100% (1 of 1)
Thyroid gland	N/A	homozygote	100% (1 of 1)
Trachea	N/A	hemizygote	100% (1 of 1)
Trachea	N/A	homozygote	100% (1 of 1)
Uterus	N/A	hemizygote	Not available
Uterus	N/A	homozygote	100% (1 of 1)
White adipose tissue	N/A	hemizygote	0.0% (0 of 1)
White adipose tissue	N/A	homozygote	0.0% (0 of 1)

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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	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.

Legacy Phenotype Associated Images

Abcd1^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Abcd1^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

Abcd1^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Abcd1^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

View all 120 images

Abcd1^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

View all 6 images

Human diseases caused by Abcd1 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.

Human diseases associated with Abcd1 (5 diseases)
Human diseases predicted to be associated with Abcd1 (617 diseases)

The table below shows human diseases associated to Abcd1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti...	ORPHA:139399
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Peripheral axonal neuropathy, Ataxia, Inability to walk, My...	ORPHA:139396
Adrenoleukodystrophy	Primary adrenal insufficiency, Limb ataxia, Hypogonadism, Neurodegeneration, Truncal ataxia, Impa...	OMIM:300100
Cadds	Cataract, Increased circulating very long-chain fatty acid concentration	ORPHA:369942
Hirschsprung Disease	Aganglionic megacolon, Neoplasm of the thyroid gland	ORPHA:388

The table below shows human diseases predicted to be associated to Abcd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co...	ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Decreased...	OMIM:214400
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im...	OMIM:611228
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation	OMIM:212890
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Impaired distal vibrat...	OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental...	OMIM:606482
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118210
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio...	OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Cataract 7	Developmental cataract	OMIM:115660
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Distal sensory impairment, Axonal regeneration, Diffic...	OMIM:608323
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Decreased...	OMIM:607706
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	ORPHA:98856
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio...	ORPHA:280234
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Acute demye...	ORPHA:101081
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Charcot-Marie-Tooth Disease, Type 4H	Waddling gait, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve cond...	OMIM:609311
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large...	OMIM:615376
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Cerebellar ...	OMIM:607250
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Nathalie Syndrome	Cataract	ORPHA:2663
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai...	OMIM:604484
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:90103
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Demyelinating sensory neuropathy, Peripheral axonal neuropathy, Demy...	ORPHA:99939
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Vestibular schwannoma, Steppage gait, Decreased compound muscle action potential amplitude, Dista...	OMIM:613641
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,...	OMIM:618912
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo...	OMIM:162500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination	ORPHA:431329
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cerebella...	OMIM:302800
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Peripheral axonal degeneration, Impaired distal proprioception, Imp...	ORPHA:101097
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i...	ORPHA:99944
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:605285
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cataract 47	Microcornea, Cataract	OMIM:612018
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction	OMIM:612577
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop...	ORPHA:99953
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment	OMIM:620111
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:618184
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:600882
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy/...	OMIM:619862
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle...	OMIM:616040
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
X-Linked Retinoschisis	Cataract	ORPHA:792
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:302801
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity	ORPHA:139536
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Chorea, Axonal...	OMIM:604168
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Impaired pain sensation, Inability to walk, Decreased number of l...	ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:616155
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens...	ORPHA:352675
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Brain atrophy, ...	OMIM:615284
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Broad-based gait, Peripheral axonal neuropathy, Impaired pain sensation, Decreased nerve conducti...	ORPHA:435387
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Steppage gait, Distal senso...	OMIM:606595
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi...	OMIM:618279
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity...	OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:605589
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Bradykinesia, Decreased nerve conduction velocity, Ataxia	OMIM:183050
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Somatic sensory dysfunction, Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, P...	OMIM:620378
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa...	ORPHA:101077
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P...	ORPHA:101082
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Difficulty walking, Dist...	OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Segmental peripheral demyeli...	OMIM:601455
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Diffuse cerebral atrophy, Decreased compound muscle ac...	OMIM:619279
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher...	OMIM:249900
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity	ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment	OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Roussy-Lévy Syndrome	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t...	OMIM:616687
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment	OMIM:608895
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Atrophy/Dege...	ORPHA:225154
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, Gliosis, Neuronal loss in central nervous...	ORPHA:204
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Paresthesia	ORPHA:640
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio...	OMIM:159550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Decreased nerve conduction velocity, Axonal degeneration	OMIM:618138
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Gait disturbance, Abnormality of peripheral nerve conduction, Di...	ORPHA:101001
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Chorea, Impaired proprioception, Optic atrophy, Dysmetria, Bradykinesia, Prog...	ORPHA:98755
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep...	ORPHA:88628
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity, Inability to walk, Impaired distal vibration sensatio...	ORPHA:276435
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Gait disturbance, ...	OMIM:618400
Nathalie Syndrome	Cataract	OMIM:255990
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ataxia, Cerebral cortical atrophy	ORPHA:1188
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude, Difficulty walking	OMIM:619112
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Cerebral atrophy, EEG abno...	ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi...	OMIM:606483
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce...	OMIM:256600
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Chorea, EEG with persistent abnormal rhythmic activity, Astrocy...	ORPHA:282166
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal...	OMIM:612674
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti...	ORPHA:139399
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration	OMIM:610951
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Ataxia	ORPHA:1368
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Neuronal loss in central nervous system, Gait disturbance, Cerebral cortical atrophy, Astrocytosis	OMIM:600795
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Lesch-Nyhan Syndrome	Hyperuricemia	ORPHA:510
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Axonal loss, Abolished vibration sense, Motor axonal n...	OMIM:620068
Autosomal Recessive Spastic Paraplegia Type 71	Spastic gait, Abnormal myelination	ORPHA:401840
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Inability to walk, Unstea...	ORPHA:99950
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De...	OMIM:270550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D...	ORPHA:101085
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:302802
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la...	OMIM:162400
Triose Phosphate-Isomerase Deficiency	Central nervous system degeneration, Decreased nerve conduction velocity	ORPHA:868
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Indifference To Pain, Congenital, Autosomal Recessive	Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d...	OMIM:243000
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Gait disturbance, EEG with continuous slow activity, Astrocytosis	ORPHA:275864
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Steppage gait	OMIM:607678
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Decreased nerve conduction velocity, Leukodystrophy	OMIM:614932
Autosomal Dominant Spastic Paraplegia Type 17	Spastic gait, Abnormal motor nerve conduction velocity, Distal sensory impairment	ORPHA:100998
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Distal sensory impairment, Axonal loss, Steppage gait,...	OMIM:118300
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction	ORPHA:65684
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Xanthinuria, Type Ii	Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia	OMIM:603592
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ...	OMIM:608804
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal...	OMIM:619519
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Spastic gait, Difficulty walking, Abnormal myelination	ORPHA:401820
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Abnormality of the seventh cranial nerve, Distal ...	ORPHA:90117
Spinocerebellar Ataxia 10	Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Bradykinesia, Pr...	OMIM:603516
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Impaired pain sensation, Gait disturbance, Abnormal au...	ORPHA:139578
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Diabetes insipidus, Difficulty walking, Astrocytosis	OMIM:611087
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Glycogen Storage Disease Ixb	Hyperuricemia	OMIM:261750
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Dysmetria, Paresthesia, Abnormality of peripheral nerve conduction, Cerebral cortical atr...	ORPHA:48431
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista...	OMIM:616688
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Sensory ataxia, ...	OMIM:616192
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne...	OMIM:245200
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Delayed myelination, Axonal degeneration, Neurodegeneration, Abnormal autonomic...	ORPHA:478029
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral...	OMIM:218000
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Impaired distal proprioception, Impaired vibration sen...	OMIM:270685
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy	OMIM:162100
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:3222
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at...	OMIM:614575
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Wild Type Abeta2M Amyloidosis	Dysesthesia, Decreased nerve conduction velocity, Axonal loss, Paresthesia, Decreased amplitude o...	ORPHA:85446
Aniridia 3	Aniridia, Cataract	OMIM:617142
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,...	OMIM:238970
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Pellagra-Like Syndrome	Cataract	OMIM:260650
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral atrophy, B lymp...	OMIM:619851
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Gait disturbance,...	OMIM:603472
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Falls	OMIM:618811
Cataract 24	Anterior polar cataract	OMIM:601202
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener...	OMIM:604320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Difficulty walking	OMIM:615575
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioceptio...	OMIM:609033
Cednik Syndrome	Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction	ORPHA:66631
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c...	ORPHA:100070
Cystinuria	Hyperuricemia	ORPHA:214
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:605726
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Burkitt Lymphoma	Hyperuricemia	ORPHA:543
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy...	OMIM:616811
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity, Impaired pain sensation	ORPHA:2926
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,...	ORPHA:36386
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Optic disc pallor, Decreased motor nerve conduction velocity, Impai...	OMIM:164400
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co...	OMIM:256840
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru...	ORPHA:98764
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis, Axonal loss	OMIM:300857
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo...	ORPHA:909
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased nerve conduction velocity, Decreased sensory nerve co...	OMIM:201300
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Cataract 48	Cataract	OMIM:618415
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration	OMIM:620011
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis	OMIM:618356
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Sensory ataxia, Gait ataxia, At...	ORPHA:445062
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Peripheral ...	OMIM:250100
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Chorea, Delayed myelination, Optic atrophy, Multifo...	ORPHA:79097
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati...	OMIM:613640
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired temperature sensation, Impair...	ORPHA:99947
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Hyperammonemia	OMIM:246450
Charcot-Marie-Tooth Disease Type 1E	Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ...	ORPHA:90658
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Congenital Varicella Syndrome	Cataract	ORPHA:291
Combined Oxidative Phosphorylation Defect Type 13	Choreoathetosis, Delayed myelination, Decreased nerve conduction velocity	ORPHA:319514
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Cerebellar gliosis, Unsteady gait, Opti...	ORPHA:35069
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atrophy, Choreoathetosis, Leuk...	OMIM:278800
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, CNS hypomyelination, Leukodystrophy, Loss of ambulatio...	OMIM:610532
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia	ORPHA:261222
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Alstrom Syndrome	Decreased HDL cholesterol concentration, Subcapsular cataract, Hyperuricemia, Hypertriglyceridemia	OMIM:203800
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity	OMIM:613724
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Abnormality of per...	ORPHA:466768
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormal peripheral myelination, Increased circulating gonadotropin level, Testicul...	ORPHA:168563
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti...	ORPHA:1187
Friedreich Ataxia	Decreased motor nerve conduction velocity, Inability to walk, Chorea, Impaired proprioception, Op...	ORPHA:95
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a...	OMIM:229300
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude, Spastic gait, Loss of ambulation, Cerebral ...	OMIM:606353
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Optic Atrophy 11	Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo...	OMIM:617302
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Supranuclear Palsy, Progressive, 1	Akinesia, Cerebral atrophy, Astrocytosis, Granulovacuolar degeneration, Gliosis, Falls, Gait imba...	OMIM:601104
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Brain atrophy, Cerebral atrophy, Abnormal myelination	ORPHA:85179
Congenital Myopathy 10A, Severe Variant	Facial palsy, Abnormal motor nerve conduction velocity	OMIM:614399
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Gait disturbance	ORPHA:2928
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Loss of ambulation, Decreased compound muscle action potential amplitude, Facial palsy, Waddling ...	OMIM:603511
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chor...	OMIM:606002
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Autosomal Dominant Spastic Paraplegia Type 19	Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Im...	ORPHA:100999
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory...	ORPHA:600
Autosomal Dominant Spastic Paraplegia Type 8	Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Im...	ORPHA:100989
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walk...	ORPHA:309854
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe...	ORPHA:309256
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myel...	OMIM:610651
Spinocerebellar Ataxia 21	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progress...	OMIM:607454
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia	ORPHA:1933
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Cerebral dysmyelination, Shor...	OMIM:609136
Yuan-Harel-Lupski Syndrome	Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ...	OMIM:616652
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Peripheral axonal neuropathy, Ataxia, Inability to walk, My...	ORPHA:139396
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Brain atrophy, Short stepped shuffling ...	ORPHA:391411
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Cerebral atrophy, Neurodegeneration, Abnormal autonomic nervous sys...	OMIM:300894
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypergonadotropic hypogo...	ORPHA:298
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking, Abnormal myelination, Cere...	ORPHA:280210
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Cryptorchidism, Decreased compound muscle action potential a...	OMIM:301830
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination, Ataxia, Unsteady gait, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG...	ORPHA:442835
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Distal sensory im...	ORPHA:101076
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup...	ORPHA:369929
Hypomagnesemia 3, Renal	Astigmatism, Hyperuricemia, Hypomagnesemia	OMIM:248250
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411543
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, ...	OMIM:203700
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Splenomegaly, Unsteady gait, Astrocytosis, Abnor...	ORPHA:90324
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Cerebellar vermis atrophy, Akinesia, Gait ataxia	ORPHA:98773
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Decreased motor nerve...	ORPHA:99949
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Corpus callosum atrophy, ...	ORPHA:565624
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Decreased nerve condu...	OMIM:214500
Beta-Ketothiolase Deficiency	Hyperuricemia, Hyperammonemia	ORPHA:134
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Sialidosis Type 1	Decreased nerve conduction velocity, EEG abnormality, Ataxia, Gait disturbance	ORPHA:812
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Stickler Syndrome, Type V	Cataract	OMIM:614284
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Hepatosplen...	ORPHA:167
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Sensory axonal ne...	OMIM:618733
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Leukodystrophy	ORPHA:309263
Peroxisome Biogenesis Disorder 4B	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Adrenal insufficiency	OMIM:614863
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Difficulty w...	ORPHA:309271
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Hyperammonemia	ORPHA:20
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Achromatopsia 3	Cataract	OMIM:262300
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Akinesia, Optic neuropathy, Optic atrophy, Choreoathetosis...	OMIM:618249
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal autonomic nervous sys...	ORPHA:247234
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct...	ORPHA:477817
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Inability to walk, Pontocerebellar atrophy, Facial palsy, Astrocytosis	ORPHA:258
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Lesch-Nyhan Syndrome	Hyperuricemia	OMIM:300322
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp...	ORPHA:240094
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar...	ORPHA:485421
Molybdenum Cofactor Deficiency, Complementation Group C	Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Cockayne Syndrome	Cataract, Band keratopathy, Developmental cataract, Keratoconjunctivitis sicca, Abnormal cornea m...	ORPHA:191
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Sensory ataxia, ...	ORPHA:99857
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Glycogen Storage Disease Ia	Hyperlipidemia, Hyperuricemia	OMIM:232200
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ...	ORPHA:217260
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Splenomegaly, C...	OMIM:261515
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Distal sensory impairment, Decreased sensory nerve conduction ve...	ORPHA:320375
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ...	ORPHA:96181
Molybdenum Cofactor Deficiency, Complementation Group B	Ectopia lentis, Hypouricemia, Lens luxation	OMIM:252160
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep...	ORPHA:79138
Glycogen Storage Disease Ib	Hyperlipidemia, Hyperuricemia	OMIM:232220
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy	OMIM:615419
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Aceruloplasminemia	Refractory anemia, Diabetes mellitus, Ataxia, Akinesia, Chorea, Abnormal pancreas morphology, Lim...	ORPHA:48818
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Congenital Myopathy 9A	Cryptorchidism, Akinesia	OMIM:618822
Molybdenum Cofactor Deficiency, Complementation Group A	Ectopia lentis, Hypouricemia, Lens luxation	OMIM:252150
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Pituitary Carcinoma	Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co...	ORPHA:300385
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Facial diplegia, Difficulty walking	ORPHA:329478
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Cataract, Subcapsular cataract	ORPHA:414
Hereditary Late-Onset Parkinson Disease	Akinesia, Gliosis, Shuffling gait, Cerebral cortical atrophy, Orthostatic hypotension due to auto...	ORPHA:411602
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Corticobasal Syndrome	Somatic sensory dysfunction, Gait disturbance, Akinesia	ORPHA:454887
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	OMIM:300661
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Diabetes ...	ORPHA:456312
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Increased circulating inosine concen...	OMIM:613179
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	EEG with multifocal slow activity, Diffuse cerebral atrophy, Abnormal myelination	ORPHA:289266
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Hereditary Xanthinuria	Hypouricemia, Hyperxanthinemia	ORPHA:3467
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:619026
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Facial diplegia, Decreased motor nerve conduction velocity, CNS hypomyelination	OMIM:618186
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Inability to walk, Optic atrophy, Distal sensory...	ORPHA:99956
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract	OMIM:601794
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia	ORPHA:79259
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Inability to walk, Cryptorchidism,...	OMIM:615663
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Cryptorchidism, Optic atrophy, Gait disturbance, Abn...	ORPHA:90321
Supranuclear Palsy, Progressive, 2	Akinesia, Granulovacuolar degeneration, Gliosis, Falls, Gait imbalance, Neuronal loss in central ...	OMIM:609454
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia, Hypothyroidism, Akinesia	OMIM:619147
Kufor-Rakeb Syndrome	Akinesia, Ataxia, Gait disturbance, Distal sensory impairment	OMIM:606693
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Familial Isolated Hypoparathyroidism	Cataract, Hypocalcemia	ORPHA:2238
Glycogen Storage Disease Ic	Hyperlipidemia, Hyperuricemia	OMIM:232240
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,...	OMIM:216400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hyperuricemia	ORPHA:93111
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Akinesia	OMIM:616840
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Parkinson Disease 17	Akinesia	OMIM:614203
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, EEG with burst suppression	OMIM:615368
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Hypoalbum...	OMIM:277900
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t...	ORPHA:247245
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Hypogonadotropic hypogonadism	ORPHA:494
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Diabet...	OMIM:601992
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Poliomyelitis	Inability to walk, Paresthesia, Myelitis, Abnormal motor nerve conduction velocity	ORPHA:2912
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Abnormal spinal cord morphology,...	ORPHA:83597
Fetal Akinesia Deformation Sequence	Cryptorchidism, Akinesia	ORPHA:994
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Decreased motor nerve conduction velocity, Ne...	ORPHA:79139
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Dpagt1-Cdg	Ataxia, Akinesia, Inability to walk, Optic atrophy, CNS hypomyelination, Hypsarrhythmia, Diffuse ...	ORPHA:86309
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con...	OMIM:133540
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Tip-toe gait, Gait ...	ORPHA:512
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Choreoathetosis, Gait disturbance, Neurodegenera...	OMIM:234200
Manganese Poisoning	Gait disturbance, Akinesia	ORPHA:306682
Perry Syndrome	Short stepped shuffling gait, Akinesia	OMIM:168605
Postencephalitic Parkinsonism	Paresthesia, Akinesia	ORPHA:97349
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Classic Progressive Supranuclear Palsy Syndrome	Falls, Gait imbalance, Akinesia	ORPHA:240071
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Akinesia, Abnormality of the endocrine system, Myelopat...	ORPHA:3385
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Delayed CNS myelination, Chorea, Delayed myelination, Dysmetria, Athetosis, G...	OMIM:615273
Adrenoleukodystrophy	Primary adrenal insufficiency, Limb ataxia, Hypogonadism, Neurodegeneration, Truncal ataxia, Impa...	OMIM:300100
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Gaucher Disease, Perinatal Lethal	Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia	OMIM:608013
Cadds	Cataract, Increased circulating very long-chain fatty acid concentration	ORPHA:369942
Congenital Myopathy 12	Akinesia	OMIM:612540
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Eisenmenger Syndrome	Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating C-reactive...	ORPHA:97214
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Optic disc pallor, Akinesia, Acanthocytosis, Poikilocytosis	OMIM:618947
Hurler Syndrome	Abnormal nerve conduction velocity, Splenomegaly	ORPHA:93473
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia	OMIM:104200
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Orthostatic hypotension due to autonomic dysfunc...	ORPHA:642
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Inability to walk, Delayed myelination, Chorea, Splenomega...	ORPHA:404454
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Distal sensory impairment	OMIM:606071
Doors Syndrome	Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, EEG abnormality, Thrombocytosis, S...	ORPHA:79500
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Choreoacanthocytosis	Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Caudate atr...	ORPHA:2388
Monosomy 18Q	Astrocytoma, Bilateral cryptorchidism, Choreoathetosis, Abnormal myelination, Hypothyroidism, Sec...	ORPHA:1600
Mucopolysaccharidosis Type 2	Papilledema, Spinal cord compression, Splenomegaly, Decreased nerve conduction velocity, Optic at...	ORPHA:580
Hydrolethalus Syndrome 1	Accessory spleen, Adrenal gland dysgenesis	OMIM:236680
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Amoebiasis Due To Free-Living Amoebae	Ataxia, Facial palsy, Abnormal spinal cord morphology, Abnormality of the adrenal glands, Granulo...	ORPHA:68
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Thr...	ORPHA:289390
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Paresthesia	ORPHA:285
Degcags Syndrome	Pancytopenia, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leukopenia, Iron...	OMIM:619488
Mosaic Trisomy 20	Cryptorchidism, Abnormal spinal cord morphology	ORPHA:1724
Tetrasomy 9P	Absent gallbladder, Abnormal spinal cord morphology, Cryptorchidism	ORPHA:3310
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Abnormal myelination	ORPHA:434179
Hirschsprung Disease	Aganglionic megacolon, Neoplasm of the thyroid gland	ORPHA:388

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Abcd1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Abcd1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Abcd1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Abcd1^{tm1a(EUCOMM)Wtsi} Abcd1^{tm1a(EUCOMM)Wtsi}	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Abcd1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Abcd1^{tm40651(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Abcd1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us