Global Variome shared LOVD
TLR5 (toll-like receptor 5)
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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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174 entries on 2 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00980
-
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH)
238970
AR
15
15
SLC25A15
-
-
01661
-
Apolipoprotein C2 deficiency
207750
AR
-
-
APOC2
-
-
01774
-
epidermolysis bullosa, junctional, non-Herlitz type
226650
AR
1
1
COL17A1, ITGB4, LAMA3, LAMB3, LAMC2
-
-
01776
-
epidermolysis bullosa, junctional, Herlitz type
226700
AR
-
-
LAMA3, LAMB3, LAMC2
-
-
02533
-
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
605115
-
-
-
NR3C2
-
-
05479
ACG
achondrogenesis (ACG)
-
-
1
1
COL2A1, SLC26A2, TRIP11
-
-
00105
ACG1B
achondrogenesis, type IB (ACG-1B)
600972
AR
1
3
SLC26A2
-
-
04121
AI2A5
amelogenesis imperfecta, hypomaturation type, IIA5 (AI2A5)
615887
AR
-
-
SLC24A4
-
-
05212
AMDME
ataxia, myoclonia, dysarthria, muscle weakness, exercise intolerance
-
-
1
1
SLC25A32
brain;skeletal muscle
severe neuromuscular phenotype
00908
AML
leukemia, myeloid, acute (AML)
601626
-
43
28
CBFB, CEBPA, CHIC2, ETV6, FLT3, GATA2, JAK2, KIT, KRAS, LPP, MLF1, MLLT10, NPM1, NSD1, NUP214, PICALM, PTPN11, RUNX1, SH3GL1, TERT, WHSC1L1
-
-
00106
AO2
atelosteogenesis, type II (AO-2, De la Chapelle dysplasia)
256050
AR
1
4
SLC26A2
-
-
03965
ARMD14
macular degeneration, age-related, type 14 (ARMD-14)
615489
-
-
-
C2, CFB
-
-
02948
ARVD11
dysplasia, ventricular, right, arrhythmogenic, type 11 (ARVD-11)
610476
AD;AR
-
-
DSC2
-
-
00435
ATORS
tortuosity, arterial, syndrome
208050
AR
13
13
SLC2A10
-
-
00089
BBS1
Bardet-Biedl syndrome, type 1 (BBS-1)
209900
AR;DR
12
11
BBS1, CCDC28B, MKS1, TMEM67
-
-
06658
BMFS3
Bone marrow failure syndrome 3
617052
AR
-
-
DNAJC21
-
-
01717
C2D
complement component 2 deficiency (C2D)
217000
AR
-
-
C2
-
-
01693
CACTD
carnitine acylcarnitine translocase deficiency (CACTD)
212138
AR
1
1
SLC25A20
-
-
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
-
-
00639
cancer, lung
cancer, lung (adenocarcinoma)
211980
-
55
43
BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18
-
-
01223
CCD
cardiac conduction defect (CCD)
115080
AD
28
29
AKAP10, POPDC2
-
-
01759
CDAN2
anemia, dyserythropoietic, congenital, type II (CDAN-2)
224100
AR
-
-
SEC23B
-
-
06446
CDCBM10
Cortical dysplasia, complex, with other brain malformations 10
618677
AR
-
-
APC2
-
-
01694
CDSP
carnitine deficiency, systemic primary (CDSP)
212140
AR
58
10
SLC22A5
-
-
00332
CILD
dyskinesia, ciliary, primary (CILD)
-
-
219
211
C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12
-
-
03969
CILD26
dyskinesia, ciliary, primary, 26 (CILD-26)
615500
AR
-
-
C21orf59
-
-
06334
CILD35
Ciliary dyskinesia, primary, 35
617092
AR
-
-
TTC25
-
-
05398
CLCRP
Cole-Carpenter syndrome (CLCRP)
-
-
8
8
P4HB, SEC24D
-
-
04654
CLCRP2
Cole-Carpenter syndrome, type 2 (CLCRP2)
616294
AR
-
-
SEC24D
-
-
02706
CLSD
dysplasia, craniolenticulosutural (CLSD
607812
AR
-
-
SEC23A
-
-
05803
CMS23
myasthenic syndrome, congenital, type 23, presynaptic (CMS23)
618197
AR
-
-
SLC25A1
-
-
05113
CMT
Charcot-Marie-Tooth disease (CMT)
-
-
957
895
ATP1A1, DHX9, MFN2, MORC2, PLEKHG5, TRIM2, VWA1
-
-
00199
CMT2
Charcot-Marie-Tooth disease, type 2 (CMT-2)
-
-
239
158
MORC2
-
-
05791
CMT2Z
Charcot-Marie-Tooth disease, type 2Z (CMT2Z)
616688
AD
2
1
MORC2
-
-
00370
CMT4C
Charcot-Marie-Tooth disease, type 4C (CMT-4C)
601596
AR
6
5
SH3TC2
-
autosomal recessive
00076
COACH
COACH syndrome
216360
AR
1
1
CC2D2A, RPGRIP1L, TMEM67
-
-
00749
COFS2
cerebrooculofacioskeletal syndrome, type 2 (COFS-2
610756
AR
-
-
ERCC2
-
-
03950
COXPD17
combined oxidative phosphorylation deficiency, type 17 (COXPD-17)
615440
AR
-
-
ELAC2
-
-
06557
COXPD28
Combined oxidative phosphorylation deficiency 28
616794
AR
-
-
SLC25A26
-
-
03453
CSNB1D
blindness, night, stationary, congenital, type 1D (CSNB-1D)
613830
-
-
-
SLC24A1
-
-
00156
CSS
Coffin-Siris syndrome (CSS)
-
-
285
255
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11
-
-
05795
CSS8
Coffin-Siris syndrome, type 8 (CSS8)
618362
AR
-
-
SMARCC2
-
neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
02453
CTLN2
citrullinemia, type II (CTLN-2)
603471
AR
64
64
SLC25A13
-
-
06504
CWS7
?Cowden syndrome 7
616858
AD
-
-
SEC23B
-
-
03847
D2L2AD
aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD
615182
AR
-
-
SLC25A1
-
-
00864
DFNB4
deafness, autosomal recessive, type 4, with enlarged vestibular aqueduct
600791
AR
19
19
FOXI1, KCNJ10, SLC26A4
-
-
03474
DFNB61
deafness, autosomal recessive, type 61 (DFNB-61)
613865
AR
-
-
SLC26A5
-
-
04437
DFNB66
deafness?, autosomal recessive, type 66 (DFNB-66)
610212
AR
-
-
DCDC2
-
-
00088
DIAR1
diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1)
214700
AR
69
2
SLC26A3
-
-
07047
DIGFAN
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
619090
AD
-
-
MORC2
-
-
01851
DJS
Dubin-Johnson syndrome (DJS)
237500
AR
3
3
ABCC2
-
autosomal recessive
00072
DTD
dysplasia, diastrophic (DTD)
222600
AR
-
-
SLC26A2
-
-
01281
DTDP1
dysplasia, dentin, type I (DTDP1)
125400
AR
-
-
SMOC2
-
-
00546
DYT9
dystonia, type 9 (DYT-9)
601042
AD
-
-
SLC2A1
-
-
00107
EDM4
dysplasia, epiphyseal, multiple, type 4 (EDM-4)
226900
AR
-
6
SLC26A2
-
-
02842
EIEE3
encephalopathy, epileptic, early infantile, type 3 (EIEE-3)
609304
AR
1
1
SLC25A22
-
-
03216
EIEE39
Epileptic encephalopathy, early infantile, 39
612949
AR
-
-
SLC25A12
-
-
03749
EIG12
epilepsy, idiopathic, generalized, susceptibility to, type 12 (EIG-12)
614847
AD
-
-
SLC2A1
-
-
00603
EVC
Ellis-van Creveld syndrome (EVC)
225500
AR
160
152
EVC, EVC2
-
-
06740
FANCU
?Fanconi anemia, complementation group U
617247
AR
-
-
XRCC2
-
-
00585
FBS
Fanconi-Bickel syndrome (FBS)
227810
AR
-
-
SLC2A2
-
-
02650
FCORD2
dysplasia, cortical, focal type II (FCORD-2)
607341
-
4
-
MTOR, TSC1, TSC2
-
-
06092
FINCA
FINCA syndrome
618278
AR
-
-
NHLRC2
-
-
05996
FPS
Fontaine progeroid syndrome
612289
AD
-
-
SLC25A24
-
-
01632
GCCD1
glucocorticoid deficiency, due to ACTH unresponsiveness (GCCD1, ACTH resistance)
202200
AR
2
2
MC2R
-
-
00544
GLUT1DS1
GLUT1 deficiency syndrome, type 1, infantile onset, severe (GLUT1DS-1)
606777
AD;AR
9
9
SLC2A1
-
-
00545
GLUT1DS2;DYT18
GLUT1 deficiency syndrome, type 2, childhood onset (GLUT1DS-2, dystonia type 18 (DYT-18))
612126
AD
1
1
SLC2A1
-
-
02794
HLD2;PMLD1
leukodystrophy, hypomyelinating, type 2 (HLD-2, Pelizaeus-Merzbacher like disease 1 (PMLD-1))
608804
AR
7
7
GJC2
-
-
02441
HLPS
histiocytosis-lymphadenopathy plus syndrome
602782
AR
18
18
SLC29A3
-
-
04664
HMSN6B
neuropathy, motor and sensory, hereditary, type VIB (HMSN-6B)
616505
AR
-
-
SLC25A46
-
-
03714
HPC2
cancer, prostate, hereditary, type 2 (HPC-12)
614731
-
-
-
ELAC2
-
-
00438
HPE
holoprosencephaly (HPE)
236100
-
15
14
GLI2, SHH, SIX3, TGIF1, ZIC2
-
-
02867
HPE5
holoprosencephaly, type 5 (HPE-5)
609637
AD
-
-
ZIC2
-
-
03373
HSAN1C
neuropathy, sensory and autonomic, hereditary, type IC (HSAN-1C)
613640
AD
-
-
SPTLC2
-
-
03677
IBGC
calcification, basal ganglia, idiopathic (IBGC)
614540
-
11
11
SLC20A2
-
-
01699
IBGC1
calcification, basal ganglia, idiopathic, type 1 (IBGC-1, Fahr's syndrome)
213600
AD
25
25
SLC20A2
-
autosomal dominant
00139
ID
intellectual disability (ID)
-
-
2694
2376
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
02744
IMD73A
immunodeficiency, type 73A, with defective neutrophil chemotaxix and leukocytosis
608203
AD
-
-
RAC2
-
-
06948
IMD73B
immunodeficiency, type 73B, with defective neutrophil chemotaxis and lymphopenia
618986
AD
-
-
RAC2
-
-
06949
IMD73C
immunodeficiency, type 73C, with defective neutrophil chemotaxix and leukocytosis
618987
AR
-
-
RAC2
-
-
05370
INFF
infertility, female (INFF)
-
-
93
91
CDC20, EBAG9, NLRP5, OOEP, PANX1, TBPL2, ZFP36L2
-
-
02779
IPS
ichthyosis prematurity syndrome (IPS)
608649
-
-
-
SLC27A4
-
-
00082
JBTS9
Joubert syndrome, type 9 (JBTS-9)
612285
AR
1
1
CC2D2A
-
-
00317
LAM
lymphangioleiomyomatosis (LAM)
606690
-
27
27
TSC1, TSC2
-
-
03343
LMPHM3
lymphatic malformation 3
613480
AD
2
2
GJC2
-
-
01419
LPHDST
Lymphedema-distichiasis syndrome
153400
AD
88
88
FOXC2
-
autosomal dominant
06832
LUTO
Lower urinary tract obstruction, congenital
618612
AD
-
-
BNC2
-
-
05452
MC3DN
mitochondrial complex III deficiency, nuclear (MC3DN)]
-
-
4
4
BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ
-
-
03845
MC3DN5
mitochondrial complex III deficiency, nuclear type 5 (MC3DN-5)
615160
AR
-
-
UQCRC2
-
-
01678
MCC2D
3-methylcrotonyl CoA carboxylase 2 deficiency (MCC2D)
210210
AR
4
4
MCCC2
-
-
01013
MCPHA
microcephaly, Amish type (MCPHA)
607196
AR
1
1
SLC25A19
-
-
06442
MECREN
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
618416
AR
-
-
SLC25A42
-
-
05578
MKS
Meckel syndrome (MKS, Meckel-Gruber syndrome)
-
-
178
172
CC2D2A, RPGRIP1L, TMEM67
-
-
00081
MKS6
Meckel syndrome, type 6
612284
AR
-
-
CC2D2A
-
-
03316
MNMN
mononeuropathy of the median nerve, mild (MNMN)
613353
AD
-
-
SH3TC2
-
-
02981
MPCD
Mi phosphate carrier deficiency
610773
-
-
-
SLC25A3
-
-
00812
MRT3
mental retardation, autosomal recessive, type 3 (MRT-3)
608443
AR
-
-
CC2D1A
-
-
03982
MRT38
mental retardation, autosomal recessive, type 38 (MRT38)
615516
AR
1
1
HERC2
-
-
06816
MRT61
Mental retardation, autosomal recessive 61
617773
AR
-
-
RUSC2
-
-
00822
MRX1
mental retardation, X-linked, type 1
309530
XLD
4
2
IQSEC2
-
-
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