Global Variome shared LOVD
SLC26A4 (solute carrier family 26, member 4)
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Curator:
David Baux
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Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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Date
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86 entries on 1 page. Showing entries 1 - 86.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01870
-
Iminoglycinuria, digenic
242600
AR;DR
-
-
SLC36A2, SLC6A19, SLC6A20
-
-
02041
-
anemia, hemolytic , due to uridine 5-prime monophosphate hydrolase deficiency
266120
AR
-
-
NT5C3
-
-
02727
-
Mycobacterium tuberculosis, susceptibility to
607948
-
-
-
CCL2, CD209, CISH, IFNG, IFNGR1, IRGM, MC3R, SLC11A1, SP110, TIRAP, TLR2
-
-
02941
-
Testicular microlithiasis
610441
-
-
-
SLC34A2
-
-
03520
-
apolipoprotein C-III deficiency (hyperalphalipoproteinemia, type 2 (HALP-2))
614028
-
4
4
APOC3
-
-
04447
ACPHD
ataxia?, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD)
616192
AR
-
-
DNAJC3
-
-
01621
AEZ
acrodermatitis enteropathica, Zinc deficiency (AEZ)
201100
AR
8
8
SLC39A4
-
-
03207
AHUS5
hemolyticuremic syndrome, atypical, susceptibility type 5 (AHUS5)
612925
AD
-
-
C3
-
-
04004
AMRS
arthrogryposis, mental retardation, and seizures (AMRS)
615553
AR
-
-
SLC35A3
-
-
06603
ANXD3
Anauxetic dysplasia 3
618853
AR
-
-
C3orf17
-
-
03023
ARMD9
macular degeneration, age-related, type 9
611378
-
-
-
C3
-
-
06627
BILAPES
?Birk-Landau-Perez syndrome
617595
AR
-
-
SLC30A9
-
-
02407
BMIQ9
body mass index quantitative trait locus 9 (BMIQ-9)
602025
-
-
-
MC3R
-
-
03429
C3D
complement component 3 deficiency, autosomal recessive (C3D)
613779
AR
17
16
C3
-
-
00683
cancer, breast
cancer, breast, susceptibility
114480
-
8104
787
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more
-
-
03660
CCHLND
cataracts, congenital, hearing loss, and neurodegeneration (CCHLND)
614482
AR
1
-
SLC33A1
-
-
05461
CDG
glycosylation, congenital disorder of (CDG)
-
-
86
82
CAMLG, DHRSX, EDEM3, MAN2C1, MOGS, NUS1, SLC39A8, STT3A, STT3B, UGGT1
-
-
02046
CDG2C;LAD2
glycosylation, congenital disorder of, type IIc
266265
AR
-
-
SLC35C1
-
-
02461
CDG2F
glycosylation, congenital disorder of, type IIf (CDG-2F)
603585
AR
-
-
SLC35A1
-
-
02199
CDG2M
glycosylation, congenital disorder of, type IIm (CDG-2M)
300896
SMo;XLD
28
-
SLC35A2
-
-
05919
CDG2N
glycosylation, congenital disorder of, type IIn (CDG2N)
616721
AR
-
-
SLC39A8
-
-
04281
CDLS
Cornelia de Lange syndrome (CDLS)
-
-
525
499
HDAC8, NIPBL, SMC1A, SMC3
-
-
00670
CDLS3
Cornelia de Lange syndrome, type 3 (CDLS-3)
610759
AD
-
-
SMC3
-
cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
00332
CILD
dyskinesia, ciliary, primary (CILD)
-
-
219
211
C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12
-
-
00027
CILD14
dyskinesia, ciliary, primary, type 14 (CILD-14)
613807
-
9
-
CCDC39
-
-
01226
CMH4
cardiomyopathy, hypertrophic, familial, type 4 (CMH-4)
115197
AD;AR
1
1
MYBPC3
-
-
03499
CMM6
melanoma, cutaneous, malignant, susceptibility to, type 6 (CMM-6)
613972
-
-
-
XRCC3
-
-
01739
CSNU
cystinuria (CSNU)
220100
AD;AR
14
11
SLC3A1, SLC7A9
-
-
07108
DCIDP
deafness, cataract, impaired intellectual development, polyneuropathy
619354
AR
-
-
PSMC3
-
-
02398
DFNB15
deafness, autosomal recessive, type 15 (DFNB-15)
601869
AR
4
4
GIPC3
-
-
00169
EDS
Ehlers-Danlos syndrome (EDS)
-
-
1800
241
ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB
-
-
03127
EDSSPD3
Ehlers-Danlos syndrome, spondylodysplastic, type 3
612350
AR
-
-
SLC39A13
-
-
00910
FRTS2
Fanconi renotubular syndrome, type 2 (FRTS-2)
613388
AR
1
-
SLC34A1
-
-
00293
FVH2
hypoplasia, foveal, type 2, with or without optic nerve misrouting and/or anterior segment dysgenesis
609218
AR
60
52
SLC38A8
-
-
04216
GSD
storage disease, glycogen (GSD)
-
-
133
132
GAA, PHKA2, SLC37A4
-
-
01820
GSD1B
glycogen storage disease, type Ib (GSD1B)
232220
AR
37
2
SLC37A4
-
-
01821
GSD1C
glycogen storage disease, type IC (GSD1C)
232240
AR
2
-
SLC37A4
-
-
05700
HCIN
hyperostosis cranialis interna (HCIN)
144755
AD
1
1
SLC39A14
-
-
05195
HCINF2
hypercalcemia, infantile, type 2 (HCINF-2)
616963
AR
17
17
SLC34A1
-
-
07097
HDAC3-NDD
HDAC3-related NDD
-
IC
-
-
HDAC3
-
intellectual disability (HP:0001249),neurodevelopmental delay (HP:0012758), abnormality of the musculoskele tal system (HP:0033127), seizure (HP:0001250), abnormal facial shape (HP:0001999), brain imaging abnormality (HP:0410263), abnormality of the genitourinary system (HP:0000119), microcephaly (HP:0000252), hearing impairment (HP:0000365), failure to thrive (HP:0001508), abnormal heart morphology (HP:0001627), autistic behavior (HP:0000729)
03744
HH10
hypogonadism, hypogonadotropic, type 10 with/without anosmia (HH-10)
614839
AR
-
-
TAC3
-
-
01868
HHRH
hypophosphatemic rickets with hypercalciuria
241530
AR
-
-
SLC34A3
-
-
03298
HMNDYT1
Hypermanganesemia with dystonia 1
613280
AR
15
15
SLC30A10
-
-
05698
HMNDYT2
hypermanganesemia with dystonia, type 2 (HMNDYT2)
617013
AR
1
1
SLC39A14
-
-
02238
HTX1
heterotaxy, visceral, X-linked, type 1, (HTX-1, situs inversus/situs ambiguus)
306955
XLR
36
36
ZIC3
-
-
00016
HYDM2
mole, hydatidiform, recurrent, type 2 (HYDM-2)
614293
AR
1
2
KHDC3L
-
-
01350
hyperglycinuria
hyperglycinuria
138500
AD
-
-
SLC36A2, SLC6A19, SLC6A20
-
-
03256
HYPTSV
hypotrichosis and recurrent skin vesicles
613102
AR
3
3
DSC3
-
-
00139
ID
intellectual disability (ID)
-
-
2695
2377
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
06040
IGHD5
?Growth hormone deficiency, isolated, type V
618160
AR
-
-
RNPC3
-
-
00201
INFM
infertility, male (INFM)
-
-
261
225
ACTL9, AKAP3, ARMC12, AURKC, C12orf55, CCDC34, CFAP61, CXorf59, DNHD1, DPY19L2, FKBP6, M1AP, MAATS1, MNS1, MSH4, MSH5, SSX1
-
-
05126
LGMD
dystrophy, muscular, limb-girdle (LGMD)
-
-
7500
3655
POPDC3, TCAP, TRAPPC11
-
-
06727
LGMDR26
dystrophy, muscular, limb-girdle, autosomal recessive, type 26
618848
AR
1
1
POPDC3
-
-
02274
LHON
Leber hereditary optic neuropathy
535000
AR;Mi
78
63
DNAJC30, MT-ND1
-
-
06968
LHONAR
Leber hereditary optic neuropathy, autosomal recessive autosomal recessive
619382
AR
-
-
DNAJC30
-
-
06175
LIS8
Lissencephaly 8
617255
AR
-
-
TMTC3
-
-
03924
LVNC10;CMD1MM
ventricular noncompaction, left, type 10 (LVNC-10, cardiomyopathy, dilated, type 1MM (CMD-1MM))
615396
AD
1
1
MYBPC3
-
-
04456
MRT50
mental retardation?, autosomal recessive, type 50 (MRT-50)
616460
AR
-
-
EDC3
-
-
06232
MRT56
Mental retardation, autosomal recessive 56
617125
AR
-
-
ZC3H14
-
-
00800
MRT7
mental retardation, autosomal recessive, type 7 (MRT7)
611093
AR
-
-
TUSC3
-
-
05323
MYP
myopia (MYP)
-
-
27
24
ARR3, CCDC66, SLC39A5, ZNF644
-
-
04142
MYP24
myopia, type 24, autosomal dominant (MYP-24)
615946
AD
-
-
SLC39A5
-
-
00363
MYPBB
myopathy, congenital, Baily-Bloch
255995
AR
2
2
STAC3
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3539
3354
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more
-
-
06382
NEDBAF
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
618577
AD
1
1
RAC3
-
-
06644
NEDSOSB
?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
618651
AR
-
-
SEC31A
-
-
00151
NIDDM
diabetes mellitus, type II (NIDDM)
125853
AD
8
7
ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more
-
-
00909
NPHLOP1
nephrolithiasis/osteoporosis, hypophosphatemic, type 1 (NPHLOP-1)
612286
AD
-
-
SLC34A1
-
-
03554
OCCM
cortical malformations, occipital
614115
AR
4
4
LAMC3
-
-
03605
ODG3
dysgenesis, ovarian, type 3 (ODG-3)
614324
AR
-
-
PSMC3IP
-
-
03702
PCH1B
hypoplasia, pontocerebellar, type 1b (PCH-1B)
614678
AR
14
14
EXOSC3
-
-
02036
PULAM
Pulmonary alveolar microlithiasis
265100
AR
-
-
SLC34A2
-
-
02537
SCA13
ataxia, spinocerebellar, type 13 (SCA-13)
605259
AD
1
1
KCNC3
-
-
05043
SCA41
ataxia, spinocerebellar, type 41 (SCA-41)
616410
AD
-
-
TRPC3
-
-
00726
SCN4
neutropenia, severe congenital, type 4, autosomal recessive (SCN-4)
612541
AR
1
-
G6PC3
-
-
05262
SGBS
Simpson-Golabi-Behmel syndrome (SGBS)
-
-
59
59
GPC3
-
-
00773
SGBS1
Simpson-Golabi-Behmel syndrome, type 1 (SGBS1)
312870
XLR
1
1
GPC3
-
-
02065
SHNKND
dysplasia, Schneckenbecken
269250
AR
-
-
SLC35D1
-
-
03149
SPG42
paraplegia, spastic, type 42, autosomal dominant (SPG-42)
612539
AD
1
-
SLC33A1
-
-
01751
THES1
trichohepatoenteric syndrome, type 1 (THES-1)
222470
AR
11
3
TTC37
-
-
02738
TNZD
zinc deficiency, transient neonatal (incl. breast milk, TNZD)
608118
AD
-
-
SLC30A2
-
-
00748
TTD
trichothiodystrophy (TTD)
-
-
19
19
ERCC2, ERCC3, GTF2H5, MPLKIP
-
-
04324
TTD2
trichothiodystrophy, type 2, photosentitive (TTD-2)
616390
AR
-
-
ERCC3
-
-
02270
VACTERLX
VACTERL association with hydrocephaly, X-linked (VACTERLX)
314390
XLR
1
1
FANCB, ZIC3
-
-
00774
WT1
Wilms tumor, type 1, somatic (WT-1, nephroblastoma)
194070
AD;SMu
7
7
BRCA2, GPC3, H19, WT1
-
-
02968
XPB
xeroderma pigmentosum, complementation group B (XPB)
610651
AR
-
-
ERCC3
-
-
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