ORPHA:96182
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Synonyms: UPD(7)mat
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Silver-Russell syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | UPD(7)mat |
| fr | Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 7 | UPD(7) maternelle · UPD(7)mat |
| de | Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 | = en |
| es | Síndrome de Silver-Russell por disomía uniparental materna del cromosoma 7 | = en |
| it | Sindrome di Silver-Russell da disomia uniparentale materna del cromosoma 7 | = en |
| nl | Syndroom van Silver-Russell als gevolg van maternale uniparentale disomie van chromosoom 7 | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 7 | |
| pl | Zespół Silvera i Russella z powodu matczynej jednorodzicielskiej disomii chromosomu 7 | = en |
| cs | Silverův-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 7 | UPD(7)mat · Silver-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 7 |
| uk | Синдром Сільвера-Рассела, зумовлений материнською уніпарентною дисомією хромосоми 7 | = en |
| zh | 母源性7号染色体单亲二体所致Silver-Russell综合征 | 母源性UPD(7) |
| tr | Maternal uniparental kromozom 7 dizomisine bağlı Silver-Russell sendromu | UPD (7) mat |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0019913 | E | validated | |
| UMLS | C5680247 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98153Maternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:813Silver-Russell syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRB10 | Candidate gene tested in | Assessed | HGNC:4564 | ENSG00000106070 | 601523 | 7p12.1 | growth factor receptor bound protein 10 | 31100449[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
59 annotations · validated 2020-11-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0100555 | Asymmetric growth | |
| HP:0001156 | Brachydactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001508 | Failure to thrive | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0011220 | Prominent forehead | |
| HP:0004482 | Relative macrocephaly | |
| HP:0001518 | Small for gestational age | |
| HP:0001159 | Syndactyly | |
| HP:0000233 | Thin vermilion border | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0002835 | Aspiration | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0001476 | Delayed closure of the anterior fontanelle | |
| HP:0000678 | Dental crowding | |
| HP:0100633 | Esophagitis | |
| HP:0002007 | Frontal bossing | |
| HP:0002705 | High, narrow palate | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000047 | Hypospadias | |
| HP:0000855 | Insulin resistance | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000691 | Microdontia | |
| HP:0003944 | Narrow joint spaces of the elbow | |
| HP:0000160 | Narrow mouth | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0012523 | Oral aversion | |
| HP:0011094 | Overbite | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0004396 | Poor appetite | |
| HP:0000826 | Precocious puberty | |
| HP:0012412 | Premature adrenarche | |
| HP:0002650 | Scoliosis | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0000331 | Short chin | |
| HP:0010782 | Shoulder dimple | |
| HP:0001328 | Specific learning disability | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0000085 | Horseshoe kidney | |
| HP:0000110 | Renal dysplasia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 23429302[PMID]_20301499[PMID]_21954990[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96182
- This record as JSON: /data/d/96182.json