Global Variome shared LOVD
CXorf57 (chromosome X open reading frame 57)
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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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40 entries on 1 page. Showing entries 1 - 40.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01735
-
cystathioninuria
219500
AR
-
-
CTH
-
-
01845
-
homocysteinemia, due to deficiency of MTHFR
236250
AR
-
-
MTHFR
-
-
03208
AHUS6
hemolyticuremic syndrome, atypical, type 6 (AHUS6)
612926
AD
-
-
THBD
-
-
06222
ANIB12
?Aneurysm, intracranial berry, 12
618734
-
-
-
THSD1
-
-
03591
Barrett esophagus
Barrett esophagus / esophageal adenocarcinoma
614266
-
4
4
ASCC1, CTHRC1, MSR1
-
-
03390
BBIS
Beaulieu-Boycott-Innes syndrome (BBIS)
613680
AR
7
7
THOC6
-
autosomal recessive
03320
BDE2
brachydactyly type E2 (BD-E2)
613382
AD
16
13
PTHLH
-
-
01708
BOCD
chondrodysplasia, Blomstrand type (BOCD)
215045
AR
7
-
PTH1R
-
-
02514
CAMT
thrombocytopenia, amegakaryocytic, congenital (CAMT)
-
AR
-
-
MPL, THPO
-
-
07020
CAMT2
thrombocytopenia, megakaryocytic, congenital, type 2
620481
AR
-
-
THPO
-
-
03651
CHNG6
hypothyroidism, congenital, nongoitrous, type 6 (CHNG6)
614450
AD
-
-
THRA
-
-
06239
CIMAH
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
617780
AR
-
-
MTHFD1
-
-
00091
CRC
cancer, colorectal, susceptibility to (CRC)
114500
AD;SMu
3065
1838
AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more
-
-
00108
DYT
dystonia (DYT)
-
-
175
215
GNAL, KMT2B, THAP1
-
-
02435
DYT6
dystonia, type 6, torsion (DYT6)
602629
AD
-
-
THAP1
-
-
02426
EE
ethylmalonic encephalopathy
602473
AR
3
3
ETHE1
-
-
02281
Eiken
Eiken syndrome (Eiken)
600002
AR
4
-
PTH1R
-
-
04600
FAP3
adenomatous polyposis, familial, type 23 (FAP-3)
616415
AR
-
-
NTHL1
-
-
00892
FIH1
hypoparathyroidism, familial isolated, type 1 (FIH)
146200
AD;AR
-
-
GCM2, PTH
-
autosomal dominant
01584
GRTH
Thyroid hormone resistance, generalized, autosomal dominant
188570
AD
1
-
THRB
-
-
02095
GRTH
Thyroid hormone resistance, generalized, autosomal recessive
274300
AR
-
-
THRB
-
-
03983
HFE5
hemochromatosis, type 5 (HFE-5)
615517
AD
1
1
FTH1
-
-
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
-
-
02474
IDD
intervertebral disc disease (IDD)
603932
-
2
-
ASPN, CILP, COL11A1, COL9A2, COL9A3, THBS2
-
-
01435
MCDJ
chondrodysplasia, metaphyseal, Murk Jansen type
156400
AD
12
-
PTH1R
-
-
05032
MRX12;MRX35
mental retardation, X-linked, type 12/35 (MRX12;MRX35)
300957
XLR
1
1
THOC2
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3778
3593
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 74 more
-
-
06276
NEDMEHM
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
618367
AR
2
2
MTHFS
-
-
02381
NTDFS
neural tube defects, folate-sensitive (NTDFS)
601634
AR
-
-
MTHFD1, MTHFR, MTR, MTRR
-
-
05218
Ollier
enchondromatosis, multiple, Ollier type
166000
-
6
-
PTH1R
bones (skeleton)
intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage; enchondromas are common benign cartilage tumors of bone
01279
PFE
tooth eruption, failure, primary (PFE)
125350
AD
26
-
PTH1R
-
-
01384
PRTH
Thyroid hormone resistance, selective pituitary
145650
AD
-
-
THRB
-
-
06686
SCAR28
Spinocerebellar ataxia, autosomal recessive 28
618800
AR
-
-
THG1L
-
-
00212
SCZD
schizophrenia (SCZD)
181500
AD
82
72
AKT1, APOL2, APOL4, CHI3L1, COMT, DAO, DAOA, DISC1, DISC2, DRD3, DTNBP1, HTR2A, MTHFR, RTN4R
-
-
02549
Segawa
Segawa syndrome
605407
AR
3
2
TH
-
-
05773
THC
thrombocytopenia (THC)
-
-
14
14
ANKRD26, THPO
-
-
07021
THC9
thrombocytopenia, type 9
620478
AD
-
-
THPO
-
-
01578
THCYT1
thrombocythemia, type 1
187950
-
2
2
CALR, SH2B3, THPO
-
autosomal dominant
01581
THPH1
thrombophilia,due to thrombin defect (THPH1)
188050
AD
4
4
F13A1, F2, HABP2, MTHFR
-
-
03662
THPH12
Thrombophilia due to thrombomodulin defect
614486
-
-
-
THBD
-
-
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