Skeletal abnormalities

Skeletal abnormalities refer to a variety of bone structure problems, mainly in the arms or legs (limbs).

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
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
606002 ataxia-oculomotor apraxia 2 (AOA2/SCAR1) SETX neurodegenerative disease, mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem spinocerebellar ataxia autosomal recessive type 1 AOA2
SCAR1
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)
208900 ataxia-telangiectasia (AT) ATM neurodegenerative disease, blood cell cancer, psychomotor impairment, skeletal abnormalities, risk of malignant disease, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, CANCER, eye or vision problem Louis-Bar syndrome
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
Boder-Sedgwick syndrome
AT
AT1
DNA damage response (DDR)
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem Weber-Cockayne syndrome
Neill-Dingwall Syndrome
CSA nucleotide excision repair (NER)
214150 cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) ERCC6 (CSB) mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS syndrome 1
Pena-Shokeir syndrome type 2
COFS1 nucleotide excision repair (NER)
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
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
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
242900 Schimke immuno-osseous dysplasia (SIOD) SMARCAL1 skeletal abnormalities, immunodeficiency chromatin remodeling
266280 RAPADILINO syndrome RECQL4 (RTS) facial anomalies, NO CANCER development, skeletal abnormalities
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
314390 X-linked VACTERL-H (XVACTERL-H) FANCB skeletal abnormalities, chromosomal instability VACTERL-H, X-LINKED VACTERL Fanconi anemia (FA) pathway
612938 growth retardation, developmental delay, coarse facies, and early death (GDFD) FTO mental retardation (MR), skeletal abnormalities, sexual immaturity, facial anomalies, growth retardation GDFD syndrome GDFD
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
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS4 syndrome COFS4 Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
268400 Rothmund-Thomson syndrome (RTS) RECQL4 (RTS) telangiectasia, premature aging, skeletal abnormalities, risk of malignant disease, skin problem POIKILODERMA ATROPHICANS AND CATARACT RTS
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS3 syndrome COFS3 nucleotide excision repair (NER)
611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID) NHEJ1 (Cernunnos) microcephaly, neurodegenerative disease, skeletal abnormalities, sensitivity to radiation, growth retardation, immunodeficiency SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHEJ1-SCID non-homologous end-joining (NHEJ)

Last modification date: July 1, 2011