Disease #00054 (RTS2 (Rothmund-Thomson syndrome, type 2,), OMIM:268400)

Official abbreviation RTS2
Name Rothmund-Thomson syndrome, type 2,
OMIM ID 268400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 35
Phenotype entries for this disease 40
Associated with 2 genes ANAPC1, RECQL4
Associated tissues -
Disease features -
Remarks -


Individuals

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00000344 - - carrier father/mother M - - Mexican - - - - RTS2 - RECQL4 RECQL4 2 1 Ivo F.A.C. Fokkema
00000345 - - carrier father/mother F - - Mexican - - - - RTS2 - RECQL4 RECQL4 2 1 Ivo F.A.C. Fokkema
00000346 - - - ? - - European - - - - RTS2 - BRCA2, RECQL4 BRCA2, RECQL4 3 1 Ivo F.A.C. Fokkema
00004160 - PubMed: Colombo 2014, Journal: Colombo 2014 - F no Italy - - 0 - - RTS2 see paper; two siblings with a mild phenotype, mainly restricted to the skin, ... RECQL4 RECQL4 2 1 Elisa Adele Colombo
00049848 - - - M no Switzerland Cacasian >17y 0 - - RTS2 Poikiloderma, short stature RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049865 - - - F no Denmark white >44y 0 - - RTS2 poikiloderma, telangiectatic lesions, punctate atrophy, alopecia, saddle nose, short ulnae, osteopenia, short stature, squamous cell carcinoma, basal cell carcinoma RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049866 - - - M no (United Kingdom (Great Britain)) white >13y 0 - - RTS2 , poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049867 - - - F no United Kingdom (Great Britain) white >09y 0 - - RTS2 poikiloderma, microdontia, abnormalities of the long bones, short stature, delayed motor development, nutritional problems, osteosarcoma RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049868 - - - M no (Switzerland) white >08y 0 - - RTS2 poikiloderma, erythema, telangiectatic lesions, hyperkeratosis, alopecia, cataract, frontal bossing, short stature RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049869 - - - F no Greece white >11y 0 - - RTS2 poikiloderma, erythema, telangiectatic lesions, pachyonychia, delayed dentition, hypoplastic teeth, saddle nose, joint pain, slow weight gain, impaired neurocognitive development RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049870 - - - M yes (Spain) - >05y 0 - - RTS2 multiple café-au-lair spots, skeletal lesions, linear growth deficiency, chronic diarrhoea RECQL4 RECQL4 1 1 Sabina Gallati, Prof.
00049871 - - - M no (Germany) white >12y 0 - - RTS2 - RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049872 - - - F no United Kingdom (Great Britain) white >13y 0 - - RTS2 multiple café-au-lair spots, abnormalities of the long bones, hypo plastic thumbs, short stature RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049873 - - - M no France white >16y 0 - - RTS2 poikiloderma RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049880 - - - M no Australia white >04y 0 - - RTS2 alopecia, bilateral elbow/knee dislocations, hypoplastic thumbs, failure to thrive, chronic diarrhoea RECQL4 RECQL4 4 1 Sabina Gallati, Prof.
00049884 - - - F ? (Ireland) white >08y 0 - - RTS2 - RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00049885 - - - M no Netherlands white >27y 0 - - RTS2 alopecia, dystrophic nails, osteopenia, short stature, gastrointestinal symptoms during infancy RECQL4 RECQL4 2 1 Sabina Gallati, Prof.
00080908 - PubMed: Trujillano 2017 no information from parents - - - - - 0 - - RTS2 Rothmund-Thomson syndrome (OMIM:268400) RECQL4 RECQL4 1 1 Daniel Trujillano
00132285 - - affected F no China Asian 05y06m 0 - - RTS2 - - RECQL4 2 2 Baoheng Gui
00132286 - - affected F no China Asian 00y10m 0 - - RTS2 - - RECQL4 2 1 Baoheng Gui
00132288 - - affected M no China Asian 04y06m 0 - - RTS2 - - RECQL4 2 1 Baoheng Gui
00154496 - - - M ? Ecuador - >19y 0 - - RTS2 poikiloderma on face, limbs and buttocks; hyperkeratosis on palms, soles and knukles; onychodystophy; sparse eyebrows; keratoconus; low bone density. RECQL4 RECQL4 1 1 Elisa Adele Colombo
00154499 - - - F no Italy - >32y 0 - - RTS2 Poikiloderma, growth delay, plantar hyperkeratosis, photosensitivity, sparse hair, eyelashes, eyebrows, onychodystrophy, dental defects, osteosclerosis and cystic-like lesions, diarrhea, food intolerance in infancy. Her younger brother died for osteosarcoma at 18y. RECQL4 RECQL4 1 2 Elisa Adele Colombo
00154500 - - - M yes Turkey - >16y 0 - - RTS2 Poikiloderma, hyperkeratosis on palms and joints, dental defects, recurrent middle ear infections, IgA deficiency, knee arthritis RECQL4 RECQL4 1 1 Elisa Adele Colombo
00154501 - - - F ? (Belgium) - >38y 0 - - RTS2 Growth delay, plantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic anemia, hyperferritinemia, hypercholesterolemia, no poikiloderma but only white nodular lesions on the skin and swelling. She had alveolar rhabdomyosarcoma at 12y RECQL4 RECQL4 1 1 Elisa Adele Colombo
00261179 Pat1 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected parents F - - - - 0 - - RTS2 bilateral juvenile cataracts, corneal ulcer, retinal detachment; poikiloderma; cafe-au-lait spots; eczema; osteoporosis, left foot fracture ANAPC1 ANAPC1 1 1 Johan den Dunnen
00261180 Pat2 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - RTS2 bilateral juvenile cataracts; poikiloderma; hyperkaratosis; sparse hair or alopecia; absent eyebrows; premature ovarian failure; no short stature ANAPC1 ANAPC1 1 1 Johan den Dunnen
00261181 Fam3PatA Journal: Ajeawung 2019 2-generation family, 2 affected sisters, unaffected carrier mother F - - - - 0 - - RTS2 bilateral juvenile cataracts; poikiloderma; hyperkaratosis; absent eyebrows; absent eyelashes; no short stature ANAPC1 ANAPC1 1 2 Johan den Dunnen
00261182 Fam3PatB Journal: Ajeawung 2019 - F - - - - 0 - - RTS2 bilateral juvenile cataracts; poikiloderma; absent eyebrows; absent eyelashes; premature ovarian failure; no short stature ANAPC1 ANAPC1 1 1 Johan den Dunnen
00261183 Pat4 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother F - - - - 0 - - RTS2 bilateral juvenile cataracts; poikiloderma; sparse hair or alopecia; absent eyebrows; absent eyelashes; abnromal teeth; short stature ANAPC1 ANAPC1 1 1 Johan den Dunnen
00261184 Pat5 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother M - - - - 0 - - RTS2 bilateral juvenile cataracts, astigmatism; poikiloderma; blistering; photosensitivity; sparse hair or alopecia; absent eyebrows; hypogonadism; undescended testes, micropenis; short stature; growth hormone therapy; mild developmental delay; recurrent otis media; GI disturbance, adenoidal hypertrophy ANAPC1 ANAPC1 2 1 Johan den Dunnen
00261185 Fam6PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - 0 - - RTS2 bilateral juvenile cataracts, microphthalmia, strabismus; poikiloderma; blistering; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges, dysplastic aspect phalanges, large metaphyses long bones, genu varum; intellectual disability ANAPC1 ANAPC1 2 2 Johan den Dunnen
00261186 Fam6PatB Journal: Ajeawung 2019 - M - - - - 0 - - RTS2 bilateral juvenile cataracts, strabismus; poikiloderma; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges; attention-deficit hyperactivity disorder ANAPC1 ANAPC1 2 1 Johan den Dunnen
00261187 Fam7PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - 0 - - RTS2 bilateral juvenile cataracts; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; sparse hair or alopecia; absent eyebrows; absent eyelashes; small pointy teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; arm fracture (never healed properly), punctate sclerotic foci multiple metaphyses; recurrent otis media; history of hearing loss improved after PET placement ANAPC1 ANAPC1 2 2 Johan den Dunnen
00261188 Fam7PatB Journal: Ajeawung 2019 - M - - - - 0 - - RTS2 bilateral juvenile cataracts, lens detachment, photodysphoria, filamentary keratitis; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; warts; sparse hair or alopecia; absent eyebrows; absent eyelashes; small misshaped teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; right arm fixed flexion deformity ANAPC1 ANAPC1 2 1 Johan den Dunnen
Legend   How to query  

  Powered by LOVD v.3.0 Build 27
LOVD software ©2004-2022 Leiden University Medical Center 		There are currently no updates.