Gene Summary

Name:
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Synonyms:
NCBE

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased hemoglobin content Slc4a10tm1b(KOMP)Wtsi HOM Early adult 9.98×10-07
increased startle reflex Slc4a10tm1b(KOMP)Wtsi HOM Early adult 3.74×10-07
small spleen Slc4a10tm1b(KOMP)Wtsi HOM Early adult 0.00
hyperactivity Slc4a10tm1b(KOMP)Wtsi HOM Early adult 2.43×10-06
abnormal auditory brainstem response Slc4a10tm1b(KOMP)Wtsi HOM   Early adult 9.63×10-07
decreased locomotor activity Slc4a10tm1b(KOMP)Wtsi HOM   Early adult 8.82×10-05
decreased bone mineral content Slc4a10tm1b(KOMP)Wtsi HOM Early adult 6.33×10-05
abnormal gait Slc4a10tm1b(KOMP)Wtsi HOM Early adult 3.91×10-05

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

20 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Slc4a10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc4a10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Abnormal vestibular function OMIM:616044
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Usher Syndrome, Type Id
Hearing impairment, Abnormal vestibular function OMIM:601067
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment, Abnormal vestibular function OMIM:614934
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:600060
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Recessive 55
Hearing impairment, Abnormal vestibular function OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment, Abnormal vestibular function OMIM:609946
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Bilateral tonic-clonic seizure with focal onset, Delirium, Ventriculomegaly, Stat... OMIM:612691
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Hypsarrhythmia, Tremor, EEG with focal epileptiform discharges,... ORPHA:599373
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Del... ORPHA:208441
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Ataxia, Aggressive behavior OMIM:620270
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Schizophrenia 15
Hyperactivity OMIM:613950
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive behavior OMIM:301107
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:239500
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Ataxia, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior... OMIM:618718
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Tremor, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation, Hypsarrhythmia OMIM:619970
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Seizure, Short stature, Ob... ORPHA:3077
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Impulsivity, EEG with frontal focal spikes, EEG with generalized ep... ORPHA:98818
Lennox-Gastaut Syndrome
Falls, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia, EEG abnormality,... ORPHA:500180
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Gait ataxia, Dyston... ORPHA:248111
Beta-Thalassemia
Reduced bone mineral density, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegal... ORPHA:848
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, EEG with generalized epileptifo... OMIM:619827
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Increased bone mineral density, Bilateral sensorineural hearing impairment, Cor... OMIM:616943
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Abnormal cranial ... OMIM:601596
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia, EEG abnormality ORPHA:411515
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Broad-based gait, Truncal ataxia, Recurrent hand flapping, Low-set ears, Persistence... OMIM:617101
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural... ORPHA:101085
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Orthostatic hypotension, Sensorineural hearing impairment, Dysdiadochokinesis, Trem... ORPHA:99027
Gm2 Gangliosidosis, Ab Variant
Postnatal growth retardation, Inappropriate behavior, Abnormal fear-induced behavior, Seizure, Co... ORPHA:309246
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Self-injurious behavior, EEG abnormality, Aggressive behavior OMIM:271980
Rasmussen Subacute Encephalitis
Hemidystonia, Inability to walk, Hyperactivity, EEG with focal spikes, Increased theta frequency ... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Low-set ears, Waddling gait, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal... OMIM:620445
Beta-Thalassemia Intermedia
Osteopenia, Cirrhosis, Reduced bone mineral density, Jaundice, Hepatomegaly, Cholelithiasis, Anem... ORPHA:231222
Deafness, Unilateral
Unilateral deafness OMIM:125000
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... ORPHA:3240
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Inability to walk, Hyperactivity, Abno... ORPHA:168491
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, Interictal epileptiform activity, EEG with irre... ORPHA:1942
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Hearing impairment, Broad-based gait, Aggressive behavior ORPHA:457260
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Methemoglobinemia ORPHA:621
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Abnormal autonomic nervous system physiology, Impulsivity, Gait dis... ORPHA:35069
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, EEG with focal spikes, Interictal epilepti... ORPHA:163681
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Agitation, Decreased nerve conduction velocity, Cholelithiasis, Restin... ORPHA:909
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Inability to walk, Optic disc pallor OMIM:609541
Hyperlysinemia, Type I
Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Anemia OMIM:238700
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A... ORPHA:206448
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, EEG with burst suppression, Hyperactivity, Hypsarrhythmia, Ata... OMIM:619913
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Optic disc pallor OMIM:619260
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Low-set ears, Dysphagia ORPHA:89844
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Anemia, Difficulty walking, Tremor, Absent brainstem auditory respon... ORPHA:90321
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Exaggerated startle response, Optic disc pallor ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Inability to walk, Exaggerated startle response OMIM:620114
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormalit... OMIM:610042
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Hyperactivity, Hearing impairment, Splenomegaly, Aggressive behavior OMIM:252920
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Impulsivity, Gait ataxia, Intenti... OMIM:610217
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C... ORPHA:760
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Low-set ears, Gait ataxia, Inappropriate laughter, Opisthotonus... OMIM:103050
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Optic atrophy, Bradykinesia, Akinesia, Hyperactivity, Tremor, Blephar... OMIM:234200
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Abnormal auditory evoked potential... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Abnormal auditory evoked potential... ORPHA:529799
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Macrotia, EEG with gener... OMIM:617864
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Hypsarrhythmia, Impulsivity, Exaggerated startle response, Dystonia, Th... OMIM:620423
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Delirium, Restlessness ORPHA:100924
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Reduced bone mineral density, Acute myeloid leukemia, A... OMIM:617052
X-Linked Adrenoleukodystrophy
Hyperactivity, Progressive hearing impairment, Gait disturbance, Disinhibition, Attention deficit... ORPHA:43
Mogs-Cdg
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Absent brainstem auditory response... ORPHA:79330
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... OMIM:216400
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gracile Bone Dysplasia
Hypoplastic spleen, Decreased skull ossification, Asplenia OMIM:602361
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... OMIM:133540
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Hepatosplenomegaly OMIM:268800
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Obesity, Abdominal obesity, Alkalosis OMIM:219090
Tay-Sachs Disease
Optic atrophy, Inability to walk, Tremor, Gait disturbance, Exaggerated startle response, Hearing... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormal pinna morphology, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Mirage Syndrome
Anemia, Radial club hand, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia OMIM:617053
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Argininemia
Anorexia, Spastic gait, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Hyp... OMIM:207800
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotat... ORPHA:98791
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Hearing impairment, Bone marrow hypocellular... ORPHA:699
Lead Poisoning
Anorexia, Cranial hyperostosis, Abnormal T cell morphology, Anemia, Abnormality of the autonomic ... ORPHA:330015
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response, Macrotia, EEG abnormality OMIM:617281
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Low-set ears, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Ataxia, Choreoathetosis, Aggressive behavior OMIM:612716
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior ri... OMIM:260400
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Aganglionic megacolon, Anemia, Sensorineural hearing impairment, Abnormal hemoglob... ORPHA:847
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Dysphagia, Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Low-set ears, Aggressive behavior ORPHA:401973
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Sensorineural ... OMIM:301040
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Hepatosplenomegaly ORPHA:79255
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... OMIM:615574
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Low-set ears OMIM:601186
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dysphagia OMIM:617527
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Anemia, Inability to walk, Broad-based gait, Osteoporosis, Stereotypical hand wringin... ORPHA:438213
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormal lateral ventricle morphology, Abnormal fear-induced behavi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormal lateral ventricle morphology, Abnormal fear-induced behavi... ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Dysphagia, Exaggerated startle response OMIM:618367
Alkaptonuria
Black pigment gallstones, Reduced bone mineral density, Hemolytic anemia, Methemoglobinemia ORPHA:56
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dy... OMIM:619522

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 Slc4a10

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 Slc4a10.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Slc4a10tm1b(KOMP)Wtsi PMC5638796

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc4a10tm34451(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc4a10tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc4a10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc4a10tm356009(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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