Skin problem

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
613972 cutaneous malignant melanoma type 6 (CMM6) XRCC3 skin problem MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6
Melanoma, cutaneous malignant, 6
homologous recombination (HR)
613398 Warsaw breakage syndrome (WBRS) helicase DDX11 (CHLR1) microcephaly, skin problem, chromosomal instability, facial anomalies, growth retardation, deafness (hearing impairment) WBR syndrome
WBRS syndrome
WBRS DNA replication
614083 Fanconi anemia, complementation group L (FANCL) FANCL skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD FA-L
FAAP43
PHF9
Fanconi anemia (FA) pathway
218600 Baller-Gerold syndrome RECQL4 (RTS) premature aging, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
BGS
210900 Bloom syndrome RECQL3 (BLM) mental retardation (MR), skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, telangiectasia Bloom–Torre–Machacek syndrome BLM
BL
BLS
Fanconi anemia (FA) pathway, homologous recombination (HR)
603554 Omenn syndrome DCLRE1C (Artemis) risk of malignant disease, skin problem, immunodeficiency RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
non-homologous end-joining (NHEJ)
606593 LIG4 syndrome LIG4 mental retardation (MR), psychomotor impairment, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sensitivity to radiation, facial anomalies, growth retardation, microcephaly LIG4S
LIG4
non-homologous end-joining (NHEJ)
227645 Fanconi anemia, complementation group C (FANCC) FANCC skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI PANCYTOPENIA, TYPE 3 FANCC
FACC
FAC
FA3
Fanconi anemia (FA) pathway
227646 Fanconi anemia, complementation group D2 (FANCD2) FANCD2 skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents FANCONI ANEMIA, COMPLEMENTATION GROUP D
FANCONI PANCYTOPENIA, TYPE 4
FANCD2
FANCD
FACD
FAD2
FA4
Fanconi anemia (FA) pathway
603467 Fanconi anemia, complementation group F (FANCF) FANCF skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCF
FA-F
Fanconi anemia (FA) pathway
127550 dyskeratosis congenita autosomal dominant (ADDKC) TERT (telomerase catalytic subunit), DKC1 blood cell cancer, risk of malignant disease, skin problem, bone marrow failure dyskeratosis congenita Scoggins type telomere maintenance
614087 Fanconi anemia, complementation group M (FANCM) FANCM skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FA-M
FAAP250
Fanconi anemia (FA) pathway
278720 xeroderma pigmentosum, complementation group C (XPC) XPC risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer XERODERMA PIGMENTOSUM III
XP, GROUP C
XPC
XPCC
XP3
nucleotide excision repair (NER)
278740 xeroderma pigmentosum, complementation group E (XPE) DDB2 (XPE) skin problem XERODERMA PIGMENTOSUM V
XP, GROUP E
XPE
XPV5
nucleotide excision repair (NER)
278780 xeroderma pigmentosum, complementation group G (XPG) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer xeroderma pigmentosum VII XPG
XP7
nucleotide excision repair (NER)
278750 xeroderma pigmentosum, VARIANT type (XPV) POLη (POLH /RAD30A) skin problem XPV
XP-V
Fanconi anemia (FA) pathway, translesion synthesis (TLS)
278700 xeroderma pigmentosum, complementation group A (XPA) XPA neurodegenerative disease, skin problem, sensitivity to radiation, skin cancer XERODERMA PIGMENTOSUM I
XP, GROUP A
XPA
XP1
nucleotide excision repair (NER)
605724 Fanconi anemia, complementation group D1 (FANCD1) BRCA2 (FANCD1) blood cell cancer, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability Fanconi D1 FANCD1
FAD1
Fanconi anemia (FA) pathway, homologous recombination (HR)
600901 Fanconi anemia, complementation group E (FANCE) FANCE skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCE
FACE
Fanconi anemia (FA) pathway
614082 Fanconi anemia, complementation group G (FANCG) FANCG (XRCC9) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCG
FAG
FA-G
Fanconi anemia (FA) pathway
609054 Fanconi anemia, complementation group J (FANCJ) BACH1/BRIP1 (FANCJ) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCJ
FAJ
FA-J
Fanconi anemia (FA) pathway
300514 Fanconi anemia, complementation group B (FANCB) FANCB skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE 95-KD FANCB
FA-B
FAAP95
FAAP90
FLJ34064
Fanconi anemia (FA) pathway
227650 Fanconi anemia, complementation group A (FANCA) FANCA skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCA GENE FANCA
FA-A
FACA
FAA
Fanconi anemia (FA) pathway
609053 Fanconi anemia, complementation group I (FANCI) FANCI skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCI Fanconi anemia (FA) pathway
610832 Fanconi anemia, complementation group N (FANCN) FANCN (PALB2) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure Fanconi N FA-N Fanconi anemia (FA) pathway
225750 Aicardi-Goutieres syndrome 1 (AGS1) TREX1 (DNase III) microcephaly, neurodegenerative disease, mental retardation (MR), skin problem, immunodeficiency AGS1 syndrome
AGS syndrome
encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
cree encephalitis
pseudotoxoplasmosis syndrome
Aicardi-Goutieres syndrome 1, autosomal dominant, included
AGS1
AGS
Fanconi anemia (FA) pathway
268400 Rothmund-Thomson syndrome (RTS) RECQL4 (RTS) telangiectasia, premature aging, skeletal abnormalities, risk of malignant disease, skin problem POIKILODERMA ATROPHICANS AND CATARACT RTS

Last modification date: July 1, 2011