Global Variome shared LOVD
CXorf58 (chromosome X open reading frame 58)
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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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42 entries on 1 page. Showing entries 1 - 42.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01801
-
anemia, hemolytic, due to gamma-glutamylcysteine synthetase deficiency
230450
AR
-
-
GCLC
-
-
02988
-
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
610842
-
-
-
GGCX
-
-
02594
CMD1L
cardiomyopathy, dilated, type 1L (CMD-1L)
606685
-
-
-
SGCD
-
-
00296
CTRCT
cataract (CTRCT)
-
-
948
921
AGK, BFSP1, BFSP2, CASP7, CRYAA, CRYBA4, CRYGC, CRYGD, FYCO1, GJA3, HSF4, LIM2, MIP, SOLH
-
-
00246
CTRCT13
cataract, type 13, with adult phenotype (CTRCT-13)
116700
AR
10
9
GCNT2
-
-
02494
CTRCT2;CCL
cataract, type 2 (CTRCT-2, Coppock-like (CCL))
604307
AD
9
3
CRYGC
-
-
01451
DYT11
dystonia, myoclonic, type 11 (DYT11)
159900
AD
19
18
SGCE
-
myoclonic jerks affecting mostly proximal muscles; dystonia, usually torticollis or writer's cramp, observed in most patients, occasionally the only symptom; onset usually first or second decade; symptoms often respond to alcohol, patients may have psychiatric abnormalities
01296
DYT5
dystonia, type 5, dopa-responsive type (DYT-5)
128230
AD;AR
3
3
GCH1
-
-
03339
FGQTL5
Fasting plasma glucose level quantitative trait locus 5
613463
-
-
-
GCKR
-
-
00892
FIH1
hypoparathyroidism, familial isolated, type 1 (FIH)
146200
AD;AR
-
-
GCM2, PTH
-
autosomal dominant
06730
FIH2
Hypoparathyroidism, familial isolated 2
618883
-
-
-
GCM2
-
-
00114
GA1
glutaricaciduria, type 1 (GA-1)
231670
AR
811
832
GCDH
-
autosomal recessive
00035
GCE
encephalopathy, glycine (GCE)
-
-
588
588
AMT, GCSH, GLDC
-
-
05401
GPIBD16
glycosylphosphatidylinositol biosynthesis defect, type 16 (GPIBD-16)
617816
AR
-
-
PIGC
-
-
02429
HHF3
hypoglycemia, hyperinsulinemic, familial, type 3 (HHF-3)
602485
AD
2
2
GCK
-
autosomal dominant
01895
HMGCLD
HMG-CoA lyase deficiency
246450
AR
157
140
HMGCL
-
-
00170
HMGCS2D
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, type 2D
605911
AR
14
14
HMGCS2
-
-
05683
HPA
hyperphenylalaninemia (HPA)
-
AD
37
37
GCH1, PCBD1, PTS, QDPR
-
-
01833
HPABH4B
hyperphenylalaninemia, BH4-deficient, type B
233910
AR
-
-
GCH1
-
-
06698
HRPT4
Hyperparathyroidism 4
617343
AD
-
-
GCM2
-
-
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
-
-
00245
Ii
blood group antigen i (BG-i)
110800
AD
17
13
GCNT2
-
-
00141
LGMD2
dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)
-
-
313
311
CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11
-
-
07012
LGMDR28;MYPLG
dystrophy, muscular, limb-girdle, autosomal recessive, type 28 (MYPLG)
620375
AR
-
-
HMGCR
-
-
02734
LGMDR3;LGMD2D
dystrophy, muscular, limb-girdle, autosomal recessive, type 3 (LGMD2D)
608099
AR
15
14
SGCA
-
-
02492
LGMDR4;LGMD2E
dystrophy, muscular, limb-girdle, autosomal recessive, type 4 (LGMD2E)
604286
AR
21
19
SGCB
-
-
01944
LGMDR5;LGMD2C
dystrophy, muscular, limb-girdle, autosomal recessive, type 5 (LGMD2C)
253700
AR
20
20
SGCG
-
-
02350
LGMDR6;LGMD2F
dystrophy, muscular, limb-girdle, autosomal recessive, type 6 (LGMD2F)
601287
AR
-
-
SGCD
-
-
01113
MCCRP1
microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1)
251270
AR
1
2
TUBGCP6
-
-
05053
MCCRP3
microcephaly and chorioretinopathy, autosomal recessive, type 3 (MCCRP-3)
616335
AR
-
-
TUBGCP4
-
-
02760
MCI1
myocardial infarction, susceptibility to, type 1 (MCI-1)
608446
-
41
2
ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4
-
-
05121
MD
dystrophy, muscular (MD)
-
-
4587
2658
HMGCR
-
-
07138
MMDS7
mitochondrial dysfunctions, multiple, syndrome, type 7
620423
AR
-
-
GCSH
-
-
01286
MODY2
diabetes of the young, maturity-onset, type 2 (MODY-2)
125851
AD
25
23
GCK
-
-
06902
MVAH
Mahvash disease
619290
AR
-
-
GCGR
-
-
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
-
-
07005
NEDGS
neurodevelopmental disorder with poor growth and skeletal anomalies
619880
AR
1
-
PCDHGC4
-
-
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
-
-
06101
PAMDDFS
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
618737
AR
-
-
TUBGCP2
-
-
05783
PNDM1
diabetes mellitus, permanent neonatal, type 1 (PNDM1)
606176
AR
1
1
GCK
-
-
01048
VCFS
velocardiofacial syndrome
192430
AD
2
2
DGCR14, DGCR2, DGCR6, DGCR8, TBX1
-
-
02123
VKCFD1
vitamin K-dependent clotting factors, combined deficiency of, type 1 (VKCFD-1)
277450
AR
-
-
GGCX
-
-
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