Disease #00243 (IMAGE (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE)), OMIM:614732)

Official abbreviation IMAGE
Name intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE)
OMIM ID 614732
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 2 genes CDKN1C, POLE
Associated tissues -
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Remarks -


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23 entries on 1 page. Showing entries 1 - 23.
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00016433 - PubMed: Hamajima 2013 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); inruterine growth retardation (HP:0001511); genitourinary abnormalities (HP:0000078); abnormality nose (HP:0000366); frontal bossing (HP:0002007); cryptorchidism CDKN1C CDKN1C 1 1 Eamonn Maher
00016434 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE possible hypercalciuria (HP:0002150), adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003025; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism CDKN1C CDKN1C 1 1 Eamonn Maher
00016435 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); no short limbs (-HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003026; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); no short arms (-HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism CDKN1C CDKN1C 1 1 Eamonn Maher
00016436 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE possible adrenal hypoplasia, adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003027; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); osteopenia (HP:0000938); cryptorchidism CDKN1C CDKN1C 1 1 Eamonn Maher
00016437 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003028; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism CDKN1C CDKN1C 1 1 Eamonn Maher
00016438 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003029; abnormality nose (HP:0000366); frontal bossing (HP:0002007); no small epiphyses (-HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism CDKN1C CDKN1C 1 1 Eamonn Maher
00419957 Pat1 PubMed: Nakano 202 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - IMAGE see paper; ..., intrauterine growth retardation; adrenal insufficiency; no genitourinary abnormality; immunodeficiency; Café au lait patches,; diffuse large B-cell lymphoma; 9y-delayed mental development, intellectual disability IQ33 - POLE 2 1 Johan den Dunnen
00419958 Pat2 PubMed: Nakano 202 2-generation family, 1 affected, unaffected heterozygous carrier father M - Japan - - 0 - - IMAGE see paper; ..., jaundice; intrauterine growth retardation; adrenal insufficiency; immunodeficiency; growth hormone insufficiency; diffuse large B-cell lymphoma - POLE 2 1 Johan den Dunnen
00419959 Fam1Pat1 PubMed: Logan 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; scoliosis; osteopenia; small patella; seizures; gastrostomy; eczema - POLE 2 2 Johan den Dunnen
00419960 Fam1Pat2 PubMed: Logan 2018 sister F - United Kingdom (Great Britain) - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia - POLE 2 1 Johan den Dunnen
00419961 Pat3 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Ireland - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; midline accessory incisor; osteopenia; infant eczema - POLE 2 1 Johan den Dunnen
00419962 Pat4 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; IgM paraproteinaemia - POLE 2 1 Johan den Dunnen
00419963 Pat5 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - IMAGE intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; hypopituitarism; T cell lymphoma; gastrostomy; absent patella - POLE 2 1 Johan den Dunnen
00419964 Pat6 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; bilat coxa valga; 11 ribs; 6 lumbar vertebrae; scoliosis; gastrostomy; infant eczema - POLE 2 1 Johan den Dunnen
00419965 Pat7 PubMed: Logan 2018 2-generation family, 1 affected, unaffected parents M - United States - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; hypopituitarism; atrial septal defect; brachydactyly; gastrostomy - POLE 2 1 Johan den Dunnen
00419966 Fam7Pat8 PubMed: Logan 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Ireland - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy - POLE 2 2 Johan den Dunnen
00419967 Fam7Pat9 PubMed: Logan 2018 sister F - Ireland - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy - POLE 2 1 Johan den Dunnen
00419968 Pat10 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; 11 ribs; clinodactyly; osteopenia; café au lait patches - POLE 2 1 Johan den Dunnen
00419969 Fam9Pat11 PubMed: Logan 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Australia - - 0 - - IMAGE intrauterine growth restriction; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patch - POLE 2 2 Johan den Dunnen
00419970 Fam9Pat12 PubMed: Logan 2018 sister F - Australia - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency - POLE 2 1 Johan den Dunnen
00419971 Pat13 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Australia - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; café au lait patch - POLE 2 1 Johan den Dunnen
00419972 Pat14 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; gastrostomy; hypercalaemia in infancy; café au lait patches; developmental dysplasia hip; kyphoscoliosis - POLE 2 1 Johan den Dunnen
00419973 Pat15 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - IMAGE intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patches; seizures; osteopenia; osteoporosis; nodular sclerosis; Hodgkin’s lymphoma - POLE 2 1 Johan den Dunnen
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