ORPHA:94063
12q14 microdeletion syndrome
Synonyms: Del(12)(q14) · Deletion 12q14 · Monosomy 12q14 · Osteopoikilosis-short stature-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the <i>LEMD3</i> gene: mutations in this gene have already been implicated in osteopoikilosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 12q14 microdeletion syndrome | Del(12)(q14) · Deletion 12q14 · Monosomy 12q14 · Osteopoikilosis-short stature-intellectual disability syndrome |
| fr | Syndrome de microdélétion 12q14 | Del(12)(q14) · Délétion 12q14 · Monosomie 12q14 · Syndrome d'ostéopoecilie-petite taille-déficience intellectuelle · Syndrome d'ostéopoïkilose-petite taille-déficience intellectuelle |
| de | Mikrodeletionssyndrom 12q14 | Del(12)(q14) · Deletion 12q14 · Monosomie 12q14 · Osteopoikilose-Kleinwuchs-Intelligenzminderung-Syndrom |
| es | Síndrome de microdeleción 12q14 | Del(12)(q14) · Deleción 12q14 · Monosomía 12q14 · Síndrome de osteopoiquilosis-talla baja-discapacidad intelectual |
| it | Sindrome da microdelezione 12q14 | Del(12)(q14) · Delezione 12q14 · Monosomia 12q14 · Sindrome osteopoichilosi-bassa statura-deficit cognitivo |
| nl | 12q14-microdeletiesyndroom | Del(12)(q14) · Deletie 12q14 · Monosomie 12q14 · Osteopoikilose - kleine gestalte - intellectuele achterstand-syndroom |
| pt | Síndrome de microdeleção 12q14 | Del(12)(q14) · Deleção 12q14 · Monossomia 12q14 · Síndrome de osteopoiquilose-baixa estatura-perturbação do desenvolvimento intelectual |
| pl | Zespół mikrodelecji 12q14 | Del(12)(q14) · Delecja 12q14 · Monosomia 12q14 · Osteopoikilia - niski wzrost - niepełnosprawność intelektualna |
| cs | Mikrodeleční syndrom 12q14 | Del(12)(q14) · Delece 12q14 · Monozomie 12q14 · Syndrom zahrnující osteopoikilózu, malý vzrůst a mentální retardaci |
| uk | Синдром мікроделеції 12q14 | Del(12)(q14) · Делеція 12q14 · Моносомія 12q14 · Синдром остеопоїкілозу - низького зросту-інтелектуальної недостатності |
| zh | 2q14微缺失综合征 | 全身脆性骨硬化-身材矮小-智力障碍综合征 |
| tr | 12q14 mikrodelesyon sendromu | Del (12) (q14) · Delesyon 12q14 · Monozomi 12q14 · Osteopoikiloz-kısa boy-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166700 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0019784 | E | validated | |
| UMLS | C4305140 | E | validated | |
| GARD | 13390 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders - ORPHA:261821Partial deletion of the long arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HMGA2 | Role in the phenotype of | Assessed | HGNC:5009 | ENSG00000149948 | 600698 | 12q14.3 | high mobility group AT-hook 2 | 28407409[PMID] |
| LEMD3 | Role in the phenotype of | Assessed | HGNC:28887 | ENSG00000174106 | 607844 | 12q14.3 | LEM domain containing 3 | 17220210[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 28407409[PMID]_29501611[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28407409[PMID]_29501611[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0010739 | Osteopoikilosis | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0005288 | Abnormality of the nares | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0002308 | Chiari malformation | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000490 | Deeply set eye | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000086 | Ectopic kidney | |
| HP:0002007 | Frontal bossing | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000668 | Hypodontia | |
| HP:0001252 | Hypotonia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000089 | Renal hypoplasia | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000664 | Synophrys | |
| HP:0003396 | Syringomyelia | |
| HP:0000574 | Thick eyebrow | |
| HP:0000233 | Thin vermilion border | |
| HP:0000325 | Triangular face | |
| HP:0000445 | Wide nose | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 22140081[PMID]_22987822[PMID_17220210[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94063
- This record as JSON: /data/d/94063.json