Intellectual disability-seizures-macrocephaly-obesity syndrome

Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 12377416
 Translocation (8;12)(q13;p13) during disease progression in acute myelomonocytic leukemia with t(11;19)(q23;p13.1).
Yamamoto K, Nagata K, Tsurukubo Y, Inagaki K, Ono R, Taki T, Hayashi Y, Hamaguchi H.
Cancer Genet Cytogenet. 2002;137(1):64-7.
Leukemia
ANPEP CD14 CD2 CD33 CD34 H3F3AP4
Amino Acid Sequence Base Sequence Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 8 DNA Primers DNA-Binding Proteins Disease Progression Exons Females Fluorescent in Situ Hybridization Histone-Lysine N-Methyltransferase Homo sapiens Immunophenotyping Molecular Sequence Data Myeloid-Lymphoid Leukemia Protein Neoplasm Proteins Peptide Elongation Factors Polymerase Chain Reaction Proto-Oncogenes Recombinant Fusion Proteins Transcription, Genetic Transcriptional Elongation Factors Zinc Fingers
1
(4.0%)		 12028654
 Diffuse type of giant-cell tumor of tendon sheath: an ultrastructural study of two cases with cytogenetic support.
Ferrer J, Namiq A, Carda C, Lopez-Gines C, Tawfik O, Llombart-Bosch A.
Ultrastruct Pathol. 2002;26(1):15-21.
Foam cells
CD68 ENO2 VIM
Adult Biomarkers, Tumor Chromosome Painting DNA, Neoplasm Females Giant Cell Tumors Giant Cells Homo sapiens Immunoenzyme Techniques Male Neoplasm Proteins Neurosecretory Systems Soft Tissue Neoplasms Tumor Cells, Cultured
        

Phenotype(s) retrieved from Orphanet

    Total: 50

HPO ID Term Frequency
HP:0000158 Macroglossia Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000483 Astigmatism Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000577 Exotropia Very frequent (99-80%)
HP:0000629 Periorbital fullness Very frequent (99-80%)
HP:0000646 Amblyopia Very frequent (99-80%)
HP:0000684 Delayed eruption of teeth Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0000805 Enuresis Very frequent (99-80%)
HP:0000964 Eczema Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001269 Hemiparesis Very frequent (99-80%)
HP:0001290 Generalized hypotonia Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0001634 Mitral valve prolapse Very frequent (99-80%)
HP:0001716 Wolff-Parkinson-White syndrome Very frequent (99-80%)
HP:0001760 Abnormality of the foot Very frequent (99-80%)
HP:0002019 Constipation Very frequent (99-80%)
HP:0002046 Heat intolerance Very frequent (99-80%)
HP:0002136 Broad-based gait Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0006482 Abnormality of dental morphology Very frequent (99-80%)
HP:0012680 Abnormality of the pineal gland Very frequent (99-80%)
HP:0100703 Tongue thrusting Very frequent (99-80%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000179 Thick lower lip vermilion Occasional (29-5%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000358 Posteriorly rotated ears Occasional (29-5%)
HP:0000444 Convex nasal ridge Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000718 Aggressive behavior Occasional (29-5%)
HP:0000722 Obsessive-compulsive behavior Occasional (29-5%)
HP:0001051 Seborrheic dermatitis Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0002003 Large forehead Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0003186 Inverted nipples Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0011246 Underdeveloped superior crus of antihelix Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID