Disease #00624 (RNS (Raine syndrome), OMIM:259775)

Official abbreviation RNS
Name Raine syndrome
OMIM ID 259775
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 33
Phenotype entries for this disease 31
Associated with 1 gene FAM20C
Associated tissues -
Disease features -
Remarks autosomal recessive
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-02-06 14:20:13 +01:00 (CET)


Individuals

33 entries on 1 page. Showing entries 1 - 33.
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00264098 Pat1 PubMed: Simpson 2007 - M no - - <10d - - - RNS gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 2 1 Johan den Dunnen
00264099 Pat2 PubMed: Simpson 2007, PubMed: Kingston 1991 - M yes United Kingdom (Great Britain) - <00y00m10d - - - RNS see paper; ..., gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, no pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264100 Pat3 PubMed: Simpson 2007 - M yes - - <10d - - - RNS gestation 38w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264101 Pat4 PubMed: Simpson 2007, PubMed: Al-Gazali 2003 - M no United Arab Emirates - >00y00m10d - - - RNS see paper; ..., gestation 36w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, no cerebral calcifications, thoracic hypoplasia, no pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264102 Pat5 PubMed: Simpson 2007, PubMed: Hulskamp 2003 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents F yes Germany Turkey <00y00m10d - - - RNS see paper; ..., gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 1 3 Johan den Dunnen
00264103 Pat6 PubMed: Simpson 2007 - F no - - >10d - - - RNS gestation 38w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, no thoracic hypoplasia, no pulmonary hypoplasia FAM20C FAM20C 2 1 Johan den Dunnen
00264104 Pat7 PubMed: Simpson 2007 - F no - - <10d - - - RNS gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 2 1 Johan den Dunnen
00264119 Case1 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - RNS see paper; … FAM20C FAM20C 1 1 Johan den Dunnen
00264120 Case2 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier fsther M no United Kingdom (Great Britain) - - - - - RNS see paper; … FAM20C FAM20C 2 1 Johan den Dunnen
00264121 FamPatII1/2 PubMed: Fradin 2011 2-generation family, 2 affected sister, unaffected heterozygous carrier parents F yes France - - - - - RNS see paper; … FAM20C FAM20C 1 2 Johan den Dunnen
00387998 patient PubMed: Bajaj 2021 2-generation family, 1 affected, unaffected parents F no India India 00y17m - - - RNS HP:0000453, HP:0000377, HP:0000212, HP:0005280, HP:0000218, HP:0000695, HP:0000248, HP:0000270, HP:0000463, HP:0008501; abnormal 32-week scan with clover-leaf skull, non-ossified nasal bone, midface hypoplasia, bulging eyelids and irregular contour of long bones; born at full-term, Apgar score 9/10, birth-weight 2900 g; noisy breathing, feeding difficulties due to right-sided choanal atresia, vital parameters and oxygen-saturation stable; weight 2.75 kg (Z 0 to -2), length 46 cm (Z 0 to -2), OFC32.5 cm (Z -1 to -2); osteopetrosis FAM20C FAM20C 1 1 Wei-Hong Lai
00443892 - - - F - - - - - - - RNS - FAM20C FAM20C 1 1 Ewelina Łazarczyk
00462258 patient PubMed: Ababneh 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M - Saudi Arabia - 00y08m - - - RNS see paper; ..., 8m-deceased - FAM20C 1 1 Johan den Dunnen
00462260 Fam1PatIV4/5/6 PubMed: Acevedo 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Brazil - - - - - RNS see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization FAM20C COL27A1, FAM20C, KIRREL3, ROBO3 4 3 Johan den Dunnen
00462262 Fam2PatVI1/2 PubMed: Acevedo 2015 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - RNS see paper; ..., hypoplastic amelogenesis imperfecta, tooth dentine abnormalities, facial dysmorphism, hypophosphataemia, soft tissue ectopic mineralization, no osteosclerosis FAM20C FAM20C 2 2 Johan den Dunnen
00462263 Pat1 PubMed: El-Dessouky 2020 2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents M yes Egypt - - - - - RNS see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification FAM20C FAM20C 1 1 Johan den Dunnen
00462264 Pat2 PubMed: El-Dessouky 2020 2-generation family, affected fetus (one of a twin), unaffected heterozygous carrier first-cousin parents F - Egypt - - - - - RNS see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification FAM20C FAM20C 1 1 Johan den Dunnen
00462265 Pat3 PubMed: El-Dessouky 2020 2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents M yes Egypt - - - - - RNS see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification FAM20C FAM20C 1 1 Johan den Dunnen
00462268 patient PubMed: Eltan 2020 - M no Turkey - - - - - RNS see paper; ..., hypophosphatemia; prenatal ultrasound nasal bone agenesis; large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, corneal opacification FAM20C FAM20C 2 1 Johan den Dunnen
00462269 patient PubMed: Eras 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - RNS see paper; ..., underdeveloped midface, flattened forehead, small nose, depressed nasal bridge, anteverted nares, small mouth, narrow palate, epicanthal fold; choanal atresia/stenosis; pectus excavatum, bulbous fingertips; osteosclerosis in the ribs and costovertebral joints; no fractures; intracerebral calcifications; no seizures; hearing loss FAM20C FAM20C 1 1 Johan den Dunnen
00462270 FamPatII1/2 PubMed: Hernandez-Zavala 2020 2-generation family, affected brother/fetus (2M), unaffected heterozygous carrier parents M - Mexico - - - - - RNS see paper; ..., generalized osteosclerosis FAM20C FAM20C 2 2 Johan den Dunnen
00462271 patient PubMed: Mamedova 2019 - F - Russian Federation Armenia - - - - RNS see paper; ..., pain extremities, osteosclerosis with periosteal bone formation, multiple calcifications in solid organs, midface hypoplasia, exophthalmos, amelogenesis imperfecta, shortening distal phalanges, pectus excavatum, hypophosphatemia due to renal phosphate wasting - FAM20C 2 1 Johan den Dunnen
00462272 Pat1;Pat4 PubMed: Sheth 2018, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - RNS see paper; ..., facial dysmorphy, delayed speech, delayed cognition; radiography small sclerotic areas lower part right femur, abnormally-shaped skull with minimal sclerosis lower occipital region - FAM20C 2 1 Johan den Dunnen
00462273 patient;Pat5 Journal: Mahmood 2014, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - RNS see papers; ... FAM20C FAM20C 1 1 Johan den Dunnen
00462274 Pat1 PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy Pakistan - - - - RNS see paper; ... FAM20C FAM20C 1 1 Johan den Dunnen
00462275 Pat2 PubMed: Mameli 2020 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes Italy Pakistan - - - - RNS see paper; ... - FAM20C 1 2 Johan den Dunnen
00462276 Pat3 PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - RNS see paper; ... - FAM20C 1 1 Johan den Dunnen
00462277 patient PubMed: Rafaelsen 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Norway - - - - - RNS see paper; ..., hypophosphatemia, dental anomalies, ectopic calcification - ANKRD36B, FAM20C 3 2 Johan den Dunnen
00462279 patient PubMed: Tamai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - RNS see paper; ..., pyriform aperture stenosis; fetus characteristic cerebral hyperechogenicity, hypoplastic nose; craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata FAM20C FAM20C 1 1 Johan den Dunnen
00462282 patient PubMed: Hung 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Ecuador - - - - - RNS see paper; ..., 1d-deceased (progressive hypoxemia with intermittent worsening bradycardia); birth cyanotic FAM20C FAM20C 1 1 Johan den Dunnen
00462283 patient PubMed: Seidahmed 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - RNS - FAM20C FAM20C 1 3 Johan den Dunnen
00462285 patient PubMed: Kochar 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - RNS see paper; ..., low birth weight, microcephaly, sclerosis of skull, intracranial calcifications, cranial sutures, ridged, fontanelles, delayed closure (large), clover leaf skull, prominent forehead, low set ears, prominent eyes/proptosis, entropion of eyelids, choanal atresia/stenosis, small/short nose, depressed/flat nasal bridge, flat face, mid facial hypoplasia, mandible, general abnormalities, small mandible/micrognathia, hypoplastic maxilla (excluding malar region), open mouth appearance, long philtrum, cleft palate, narrow thorax, lung hypoplasia, hydronephrosis, bowed femur/tibia, osteosclerosis, cortical hyperostosis, wide metaphysic FAM20C FAM20C 1 1 Johan den Dunnen
00462286 patient PubMed: Lulla 2021 - F - India - - - - - RNS see paper; ..., lethal osteosclerotic bone dysplasia - FAM20C 1 1 Johan den Dunnen
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