MyGenome LOVD - This database is for training purposes only
HERC2 (HECT and RLD domain containing E3 ubiquitin ...)
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Curator:
Johan T. den Dunnen
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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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4818 entries on 49 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00018
-
17-beta-hydroxysteroid dehydrogenase X deficiency
300438
-
-
-
HSD17B10
-
-
00026
-
arthrogryposis, congenital
-
-
-
-
GLE1
-
-
00029
-
hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC)
613730
-
-
-
JAM3
-
-
00031
-
Mulibrey nanism
253250
-
-
-
TRIM37
-
-
00044
-
amyloidosis, Finnish type (type V)
105120
-
-
-
GSN
-
-
00053
-
RAPADILINO syndrome
266280
-
-
-
RECQL4
-
-
00056
-
X-linked syndrome of central hypothyroidism and testical enlargement
-
-
-
-
-
-
-
00065
-
Rett syndrome, congenital variant
613454
-
-
-
FOXG1
-
-
00069
-
Efavirenz, poor metabolism of
614546
-
-
-
CYP2B6
-
-
00099
-
dysplasia, ectodermal-syndactyly syndrome, type 1 (EDSS-1)
613573
-
-
-
PVRL4
-
-
00100
-
Choanal atresia and lymphedema
613611
-
-
-
PTPN14
-
-
00122
-
aceruloplasminemia
604290
-
-
-
CP
-
-
00168
-
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)
612674
-
-
-
ABHD12
-
-
00235
-
diabetes mellitus, neonatal, transient, type 1 (TNDM-1)
601410
-
-
-
PLAGL1, ZFP57
-
-
00249
-
Dent disease, type 1
300009
-
-
-
CLCN5
-
-
00250
-
hypophosphatemic rickets, X-linked recessive (HPXR)
300554
-
-
-
CLCN5
-
-
00252
-
proteinuria, hypercalciuria, nephrocalcinosis
308990
-
-
-
CLCN5
-
-
00284
-
epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy
-
-
-
-
TBC1D24
-
-
00318
-
cancer, breast
-
-
-
-
BRCA1, BRCA2
-
-
00323
-
Dent disease, type 2
300555
-
-
-
OCRL
-
-
00355
-
dysgenesis, anterior segment
-
-
-
-
-
-
-
00423
-
cancer, endometrial
608089
-
-
-
CDH1, MLH3, MSH3, MSH6, PTEN
-
-
00457
-
afibrinogenemia, congenital
202400
-
-
-
FGA, FGB, FGG
-
-
00475
-
albinism, ocular, with sensorineural deafness (Waardenburg syndrome, (WS-2OA))
103470
-
-
-
MITF, TYR
-
-
00511
-
asthma, susceptibility to
600807
-
-
-
ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF
-
-
00521
-
meconium ileus
614665
-
-
-
GUCY2C
-
-
00522
-
amyloidosis, visceral (type VIII)
105200
-
-
-
APOA1, APOA2, B2M, FGA, LYZ
-
-
00536
-
angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI)
105150
-
-
-
CST3
-
-
00542
-
Schwartz-Jampel syndrome, type 1
255800
-
-
-
HSPG2
-
-
00543
-
dysplasia, dyssegmental, Silverman-Handmaker type
224410
-
-
-
HSPG2
-
-
00544
-
GLUT1 deficiency syndrome, type 1
606777
-
-
-
SLC2A1
-
-
00545
-
GLUT1 deficiency syndrome, type 2
612126
-
-
-
SLC2A1
-
-
00557
-
Cousin syndrome
260660
-
-
-
TBX15
-
-
00558
-
Alagille syndrome, type 2
610205
-
-
-
NOTCH2
-
-
00559
-
Hajdu-Cheney syndrome
102500
-
-
-
NOTCH2
-
-
00562
-
Hypoparathyroidism-retardation-dysmorphism syndrome
241410
-
-
-
TBCE
-
-
00566
-
Wolcott-Rallison syndrome
226980
-
-
-
EIF2AK3
-
-
00569
-
Donnai-Barrow syndrome
222448
-
-
-
LRP2
-
-
00574
-
deletion syndrome, chromosome 2q37
600430
-
-
-
HDAC4
-
-
00581
-
Boomerang dysplasia
112310
-
-
-
FLNB
-
-
00583
-
telangiectasia, cutaneous, and cancer syndrome, familial
614564
-
-
-
ATR
-
-
00586
-
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
604292
-
-
-
TP63
-
-
00588
-
Hay-Wells syndrome
106260
-
-
-
TP63
-
-
00589
-
ADULT syndrome
103285
-
-
-
TP63
-
-
00590
-
Limb-mammary syndrome
603543
-
-
-
TP63
-
-
00591
-
Rapp-Hodgkin syndrome
129400
-
-
-
TP63
-
-
00593
-
RIDDLE syndrome
611943
-
-
-
RNF168
-
-
00594
-
achondroplasia
100800
-
-
-
FGFR3
-
-
00595
-
Hypochondroplasia
146000
-
-
-
FGFR3
-
-
00597
-
Crouzon syndrome, with acanthosis nigricans
612247
-
-
-
FGFR3
-
-
00598
-
cancer, cervical, somatic
603956
-
-
-
FGFR3
-
-
00600
-
nevus, epidermal
162900
-
-
-
FGFR3, HRAS, NRAS, PIK3CA
-
-
00602
-
Spermatocytic seminoma, somatic
273300
-
-
-
BCL10, FGFR3, KIT, STK11
-
-
00604
-
Weyers acrodental dysostosis
193530
-
-
-
EVC, EVC2
-
-
00606
-
mitochondrial respiratory chain complex II deficiency
252011
-
-
-
SDHA, SDHAF1, SDHD
-
-
00614
-
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
613443
-
-
-
MEF2C
-
-
00624
-
Raine syndrome
259775
-
-
-
FAM20C
-
-
00625
-
dystonia, juvenile-onset
607371
-
-
-
ACTB
-
-
00628
-
Robinow-Sorauf syndrome
180750
-
-
-
TWIST1
-
-
00629
-
Bosley-Salih-Alorainy syndrome
601536
-
-
-
HOXA1
-
-
00630
-
Hand-foot-uterus syndrome
140000
-
-
-
HOXA13
-
-
00631
-
Guttmacher syndrome
176305
-
-
-
HOXA13
-
-
00633
-
Disordered steroidogenesis due to cytochrome P450 oxidoreductase
613571
-
-
-
POR
-
-
00638
-
Ehlers-Danlos syndrome, cardiac valvular form
225320
-
-
-
COL1A2
-
-
00646
-
Polydactyly, preaxial type II
174500
-
-
-
LMBR1
-
-
00648
-
Roberts syndrome
268300
-
-
-
ESCO2
-
-
00649
-
SC phocomelia syndrome
269000
-
-
-
ESCO2
-
-
00650
-
Jackson-Weiss syndrome
123150
-
-
-
FGFR1, FGFR2
-
-
00664
-
Hyper-IgE recurrent infection syndrome, autosomal recessive
243700
-
-
-
DOCK8
-
-
00665
-
Bifid nose with or without anorectal and renal anomalies
608980
-
-
-
FREM1
-
-
00673
-
Scaphocephaly, maxillary retrusion, and mental retardation
609579
-
-
-
FGFR2
-
-
00674
-
dysplasia, bent bone syndrome (BBDS)
614592
-
-
-
FGFR2
-
-
00681
-
cancer, pancreatic
260350
-
-
-
KRAS, RBBP8, SMAD4, STK11, TP53
-
-
00683
-
cancer, breast, familial
114480
-
-
-
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more
-
-
00684
-
SFM syndrome, somatic mosaic
163200
-
-
-
HRAS, KRAS, NRAS
-
-
00698
-
Stickler sydrome, type I, nonsyndromic ocular
609508
-
-
-
COL2A1
-
-
00699
-
dysplasia, Czech
609162
-
-
-
COL2A1
-
-
00705
-
Metachondromatosis
156250
-
-
-
PTPN11
-
-
00715
-
Mainzer-Saldino syndrome
266920
-
-
-
IFT140
-
-
00719
-
Townes-Brocks syndrome
107480
-
-
-
SALL1
-
-
00723
-
neurofibromatosis, familial spinal
162210
-
-
-
NF1
-
-
00727
-
Small patella syndrome
147891
-
-
-
TBX4
-
-
00729
-
Symphalangism, proximal
185800
-
-
-
GDF5, NOG
-
-
00731
-
Tarsal-carpal coalition syndrome
186570
-
-
-
NOG
-
-
00732
-
Stapes ankylosis with broad thumb and toes
184460
-
-
-
NOG
-
-
00734
-
Hyperkalemic periodic paralysis, type 2
170500
-
-
-
SCN4A
-
-
00736
-
myotonia, potassium-aggravated
608390
-
-
-
SCN4A
-
-
00741
-
Schinzel-Giedion midface retraction syndrome
269150
-
-
-
SETBP1
-
-
00750
-
Alagille syndrome
118450
-
-
-
JAG1
-
-
00753
-
Popliteal pterygium syndrome, lethal type
263650
-
-
-
RIPK4
-
-
00754
-
Van den Ende-Gupta syndrome
600920
-
-
-
SCARF2
-
-
00757
-
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
609528
-
-
-
SNAP29
-
-
00759
-
dystrophy, neuroaxonal, infantile, type 1
256600
-
-
-
PLA2G6
-
-
00771
-
Wilson-Turner syndrome
309585
-
-
-
HDAC8
-
-
00776
-
Borjeson-Forssman-Lehmann syndrome
301900
-
-
-
PHF6
-
-
00787
-
encephalopathy, neonatal, severe
300673
-
-
-
MECP2
-
-
00797
-
mental retardation, anterior maxillary protrusion, and strabismus
613671
-
-
-
SOBP
-
-
00805
-
Megalencephalic leukoencephalopathy with subcortical cysts 2A
613925
-
-
-
HEPACAM
-
-
00806
-
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
613926
-
-
-
HEPACAM
-
-
00808
-
Growth retardation with deafness and mental retardation due to IGF1 deficiency
608747
-
-
-
IGF1
-
-
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