| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.0%) |
15726110 |
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Genevieve D, Heron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V. Eur J Hum Genet. 2005;13(5):541-6. |
| Microcephaly Narrow iliac wings Irregular epiphyses | ||
| PAPSS2 | ||
| rs140402727 | ||
| Bone Diseases, Developmental Child Child, Preschool Electron Microscopy Females Homo sapiens Inbreeding Intellectual Disability Intracellular Signaling Peptides and Proteins Microcephaly Multienzyme Complexes Proteins Skin Sulfate Adenylyltransferase Syndrome | ||
| 1 (50.0%) |
12086964 |
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ. Diabetes. 2002;51(7):2301-5. |
| Microcephaly Epiphyseal dysplasia | ||
| EIF2A EIF2AK3 | ||
| p|SUB|S|877|P | ||
| Base Sequence Females Homo sapiens Infant Male Mutation Pancreas Polymerase Chain Reaction eIF-2 Kinase | ||
| 3 (39.0%) |
30234637 |
Wolcott-Rallison Syndrome With Different Clinical Presentations and Genetic Patterns in 2 Infants. Davoodi MA, Karamizadeh Z, Ghobadi F, Shokrpour N. Health Care Manag (Frederick). 2018;37(4):354-357. |
| Microcephaly | ||
| EIF2AK3 INS | ||
| Child, Preschool Codon, Nonsense Diabetes Mellitus, Insulin-Dependent Homo sapiens Infant Iran Male Osteochondrodysplasias eIF-2 Kinase | ||
| 3 (39.0%) |
26159176 (4713904) |
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senee V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C. Diabetes. 2015;64(11):3951-62. |
| Microcephaly | ||
| EIF2A EIF2AK3 EIF2S1 PPA1 | ||
| p|SUB|R|658|C;RS#:869025335 rs869025335 | ||
| Adult Diabetes Mellitus Females Growth Disorders Homo sapiens Male Microcephaly Missense Mutation Protein Phosphatase 1 Syndrome | ||
| 3 (39.0%) |
24194294 |
Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome. Spehar Uroic A, Mulliqi Kotori V, Rojnic Putarek N, Kuec V, Dumic M. Eur J Pediatr. 2014;173(4):529-31. |
| Microcephaly | ||
| EIF2AK3 | ||
| p|SUB|R|902|X | ||
| Child Child, Preschool Diabetes Mellitus, Insulin-Dependent Females Homo sapiens Hypothyroidism Male Mutation Nipples Osteochondrodysplasias Thyroid Dysgenesis eIF-2 Kinase | ||
| 3 (39.0%) |
22991235 (3477270) |
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. Am J Med Genet A. 2012;158A(11):2788-96. |
| Microcephaly | ||
| EIF2AK3 IER3IP1 | ||
| rs387907012 | ||
| Base Sequence Bone and Bones Brain Carrier Proteins Child, Preschool Diabetes Mellitus, Insulin-Dependent Facies Females Homo sapiens Homozygote Infant Magnetic Resonance Imaging Male Membrane Proteins Mutation Osteochondrodysplasias | ||
| 3 (39.0%) |
21835305 |
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Poulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GM. Am J Hum Genet. 2011;89(2):265-76. |
| Microcephaly | ||
| IER3IP1 | ||
| rs387907011 rs387907012 | ||
| Amino Acid Sequence Apoptosis Brain Carrier Proteins Child, Preschool Computational Biology Diabetes Mellitus Epilepsy Family Fatal Outcome Females Fibroblasts Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Membrane Proteins Microcephaly Molecular Sequence Data Mutation Neural Stem Cells Tumor Necrosis Factor-alpha | ||
| 3 (39.0%) |
16972080 |
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. de Wit MC, de Coo IF, Julier C, Delepine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM. Neurogenetics. 2006;7(4):259-63. |
| Microcephaly | ||
| EIF2AK3 INS | ||
| rs387907011 | ||
| Age of Onset Diabetes Mellitus, Insulin-Dependent Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Microcephaly Osteochondrodysplasias Osteoporosis | ||
| 9 (34.4%) |
26860746 (4748609) |
Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients. Dias RP, Buchanan CR, Thomas N, Lim S, Solanki G, Connor SE, Barrett TG, Kapoor RR. Orphanet J Rare Dis. 2016;11:14. |
| Epiphyseal dysplasia Os odontoideum | ||
| EIF2AK3 | ||
| Adult Child Child, Preschool Diabetes Mellitus, Insulin-Dependent Exons Females Homo sapiens Infant Male Mutation Osteochondrodysplasias Young Adult eIF-2 Kinase | ||
| 10 (32.7%) |
23263430 |
Wolcott-Rallison syndrome. Juneja A, Sultan A, Bhatnagar S. J Indian Soc Pedod Prev Dent. 2012;30(3):250-3. |
| Diabetes mellitus Genu valgum | ||
| Child Diabetes Mellitus, Insulin-Dependent Gingival Hemorrhage Gingivitis Homo sapiens Male Malocclusion Osteochondrodysplasias Tongue Habits |
Total: 62
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000124 | Renal tubular dysfunction | Very frequent (99-80%) |
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000540 | Hypermetropia | Very frequent (99-80%) |
| HP:0000691 | Microdontia | Very frequent (99-80%) |
| HP:0000938 | Osteopenia | Very frequent (99-80%) |
| HP:0000939 | Osteoporosis | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001522 | Death in infancy | Very frequent (99-80%) |
| HP:0001824 | Weight loss | Very frequent (99-80%) |
| HP:0001944 | Dehydration | Very frequent (99-80%) |
| HP:0002149 | Hyperuricemia | Very frequent (99-80%) |
| HP:0002570 | Steatorrhea | Very frequent (99-80%) |
| HP:0002654 | Multiple epiphyseal dysplasia | Very frequent (99-80%) |
| HP:0002656 | Epiphyseal dysplasia | Very frequent (99-80%) |
| HP:0003074 | Hyperglycemia | Very frequent (99-80%) |
| HP:0003076 | Glycosuria | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0008255 | Transient neonatal diabetes mellitus | Very frequent (99-80%) |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | Very frequent (99-80%) |
| HP:0012090 | Abnormal pancreas morphology | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001627 | Abnormal heart morphology | Frequent (79-30%) |
| HP:0001875 | Neutropenia | Frequent (79-30%) |
| HP:0001993 | Ketoacidosis | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0002868 | Narrow iliac wings | Frequent (79-30%) |
| HP:0002910 | Elevated hepatic transaminase | Frequent (79-30%) |
| HP:0006554 | Acute hepatic failure | Frequent (79-30%) |
| HP:0007229 | Intracerebral periventricular calcifications | Frequent (79-30%) |
| HP:0010306 | Short thorax | Frequent (79-30%) |
| HP:0012758 | Neurodevelopmental delay | Frequent (79-30%) |
| HP:0100625 | Enlarged thorax | Frequent (79-30%) |
| HP:0100626 | Chronic hepatic failure | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000112 | Nephropathy | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001738 | Exocrine pancreatic insufficiency | Occasional (29-5%) |
| HP:0001943 | Hypoglycemia | Occasional (29-5%) |
| HP:0002269 | Abnormality of neuronal migration | Occasional (29-5%) |
| HP:0002594 | Pancreatic hypoplasia | Occasional (29-5%) |
| HP:0002757 | Recurrent fractures | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0006274 | Reduced pancreatic beta cells | Occasional (29-5%) |
| HP:0001259 | Coma | Very rare (4-1%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000819 | Diabetes mellitus | 10 |
| HP:0002656 | Epiphyseal dysplasia | 5 |
| HP:0000938 | Osteopenia | 4 |
| HP:0002652 | Skeletal dysplasia | 4 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0001875 | Neutropenia | 2 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 2 |
| HP:0011787 | Central hypothyroidism | 2 |
| HP:0012115 | Hepatitis | 2 |
| HP:0000752 | Hyperactivity | 1 |
| HP:0000832 | Primary hypothyroidism | 1 |
| HP:0002149 | Hyperuricemia | 1 |
| HP:0100651 | Type I diabetes mellitus | 1 |