| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (62.1%) |
24778566 (4001418) |
Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata. Sireteanu A, Volosciuc M, Gramescu M, Gorduza E, Vulpoi C, Frunza I, Rusu C. Balkan J Med Genet. 2013;16(2):67-72. |
| Webbed neck Small hand | ||
| 2 (39.0%) |
25257745 |
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Hyohyeon C, Lee CG. Am J Med Genet A. 2015;167A(1):198-203. |
| Microcephaly | ||
| SHH | ||
| Base Pairing Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 Homo sapiens Infant, Newborn Male | ||
| 2 (39.0%) |
17001668 |
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. Ribeiro LA, Murray JC, Richieri-Costa A. Am J Med Genet A. 2006;140(23):2584-6. |
| Macrocephaly | ||
| PTCH1 | ||
| p|SUB|A|443|G p|SUB|T|1052|M;RS#:138911275 p|SUB|V|751|G p|SUB|V|908|G;RS#:199476093 rs1131690983 rs138911275 rs1554691359 rs1554698260 rs1554708787 rs199476093 rs28936405 rs45535032 rs781768965 | ||
| Brazil Holoprosencephaly Homo sapiens Magnetic Resonance Imaging Mutation Patched Receptors Patched-1 Receptor Phenotype Receptors, Cell Surface | ||
| 4 (37.8%) |
26728615 |
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA. Am J Med Genet A. 2016;170(3):754-9. |
| Hypotelorism Elbow dislocation Hypoplastic radial head | ||
| CDON | ||
| Amino Acid Sequence Brain Cell Adhesion Molecules Congenital Heart Defects Facies Females Heterozygote Holoprosencephaly Homo sapiens Limb Deformities, Congenital Magnetic Resonance Imaging Missense Mutation Models, Molecular Molecular Sequence Data Phenotype Protein Conformation Tumor Suppressor Proteins Young Adult | ||
| 5 (4.0%) |
21368660 |
A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Ribeiro LA, Bertolacini CD, Quiezi RG, Richieri-Costa A. Clin Dysmorphol. 2011;20(3):160-2. |
| Granuloma | ||
| SIX3 | ||
| p|SUB|G|316|D | ||
| Adult Amino Acid Substitution Brazil Eye Proteins Females Heterozygote Histiocytosis, Langerhans-Cell Holoprosencephaly Homeodomain Proteins Homo sapiens Magnetic Resonance Imaging Missense Mutation Nerve Tissue Proteins Phenotype | ||
| 5 (4.0%) |
20583177 |
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients. Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A. Am J Med Genet A. 2010;152A(7):1688-94. |
| Cyclopia | ||
| GAS1 GLI2 PTCH1 SHH SIX3 TDGF1 TGIF1 ZIC2 | ||
| rs387907165 rs387907166 | ||
| Adult Base Sequence Brazil Cell Cycle Proteins Child Child, Preschool Facies Females GPI-Linked Proteins Holoprosencephaly Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Membrane Proteins Mutation Pregnancy | ||
| 5 (4.0%) |
17096318 |
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. Am J Med Genet A. 2006;140(23):2571-6. |
| Anophthalmia | ||
| GLI2 PTCH1 | ||
| rs115556836 rs121917708 rs28936404 | ||
| Anophthalmos Brazil Central Nervous System Child Females Holoprosencephaly Homo sapiens Kruppel-Like Transcription Factors Magnetic Resonance Imaging Mutation Nose Nuclear Proteins Phenotype Zinc Finger Protein Gli2 | ||
| 5 (4.0%) |
16752381 |
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype. Santiago G, Abramides DV, De-Vitto LP, Ribeiro LA, Meira SG Jr, Richieri-Costa A. Am J Med Genet A. 2006;140(19):2085-90. |
| Language impairment | ||
| SHH | ||
| Adult Brazil Child Child, Preschool Cognition Females Hedgehog Proteins Holoprosencephaly Homo sapiens Intelligence Language Development Disorders Magnetic Resonance Imaging Male Mutation Neuropsychological Tests Phenotype |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000453 | Choanal atresia | Very frequent (99-80%) |
| HP:0006315 | Single median maxillary incisor | Very frequent (99-80%) |
| HP:0010644 | Midnasal stenosis | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000446 | Narrow nasal bridge | Frequent (79-30%) |
| HP:0000601 | Hypotelorism | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001622 | Premature birth | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000871 | Panhypopituitarism | Occasional (29-5%) |
| HP:0001028 | Hemangioma | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0002099 | Asthma | Occasional (29-5%) |
| HP:0002247 | Duodenal atresia | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0003458 | EMG: myopathic abnormalities | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0009800 | Maternal diabetes | Occasional (29-5%) |
| HP:0009914 | Cyclopia | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0003042 | Elbow dislocation | 1 |
| HP:0003997 | Hypoplastic radial head | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0032252 | Granuloma | 1 |
Total: 16
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| FGFR1 | fibroblast growth factor receptor 1 | 2260 |
| SUFU | SUFU negative regulator of hedgehog signaling | 51684 |
| PTCH1 | patched 1 | 5727 |
| SIX3 | SIX homeobox 3 | 6496 |
| TGIF1 | TGFB induced factor homeobox 1 | 7050 |
| ZIC2 | Zic family member 2 | 7546 |
| GLI2 | GLI family zinc finger 2 | 2736 |
| TDGF1 | teratocarcinoma-derived growth factor 1 | 6997 |
| FOXH1 | forkhead box H1 | 8928 |
| FGF8 | fibroblast growth factor 8 | 2253 |
| DISP1 | dispatched RND transporter family member 1 | 84976 |
| CDON | cell adhesion associated, oncogene regulated | 50937 |
| NODAL | nodal growth differentiation factor | 4838 |
| DLL1 | delta like canonical Notch ligand 1 | 28514 |
| GAS1 | growth arrest specific 1 | 2619 |
| SHH | sonic hedgehog signaling molecule | 6469 |