ORPHA:163693
2p21 microdeletion syndrome
Synonyms: 2p21 deletion syndrome · Del(2)(p21) · Monosomy 2p21
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2p21 microdeletion syndrome | 2p21 deletion syndrome · Del(2)(p21) · Monosomy 2p21 |
| fr | Syndrome de microdélétion 2p21 | Del(2)(p21) · Monosomie 2p21 · Syndrome de délétion 2p21 |
| de | Mikrodeletionssyndrom 2p21 | Del(2)(p21) · Deletion 2p21 · Monosomie 2p21 |
| es | Síndrome de microdeleción 2p21 | Del(2)(p21) · Monosomía 2p21 · Síndrome de deleción 2p21 |
| it | Sindrome da microdelezione 2p21 | Del(2)(p21) · Monosomia 2p21 · Sindrome da delezione 2p21 |
| nl | 2p21-microdeletiesyndroom | 2p21-deletiesyndroom · Del(2)(p21) · Monosomie 2p21 |
| pt | Síndrome de microdeleção 2p21 | |
| pl | Zespół mikrodelecji 2p21 | Del(2)(p21) · Monosomia 2p21 · Zespół delecji 2p21 |
| cs | Mikrodeleční syndrom 2p21 | Del(2)(p21) · Monozomie 2p21 · 2p21 deleční syndrom |
| uk | Синдром мікроделеції 2р21 | Синдром делеції 2р21 · Del(2)(p21) · Моносомія 2p21 |
| zh | 2p21 微缺失综合征 | 2p21缺失综合征 |
| tr | 2p21 mikrodelesyon sendromu | Del (2) (p21) · Monozomi 2p21 · 2p21 delesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606407 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.21 | NTBT | index | validated |
| MONDO | 0015583 | E | validated | |
| UMLS | C4304537 | 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:238517Hypotonia-cystinuria type 1 syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAMKMT | Role in the phenotype of | Assessed | HGNC:26276 | ENSG00000143919 | 609559 | 2p21 | calmodulin-lysine N-methyltransferase | 11524703[PMID] |
| PPM1B | Role in the phenotype of | Assessed | HGNC:9276 | ENSG00000138032 | 603770 | 2p21 | protein phosphatase, Mg2+/Mn2+ dependent 1B | 11524703[PMID] |
| PREPL | Role in the phenotype of | Assessed | HGNC:30228 | ENSG00000138078 | 609557 | 2p21 | prolyl endopeptidase like | 11524703[PMID] |
| SLC3A1 | Role in the phenotype of | Assessed | HGNC:11025 | ENSG00000138079 | 104614 | 2p21 | solute carrier family 3 member 1 | 11524703[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 11524703[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11524703[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003131 | Cystinuria | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001611 | Hypernasal speech | |
| HP:0000135 | Hypogonadism | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000527 | Long eyelashes | |
| HP:0200125 | Mitochondrial respiratory chain defects | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000358 | Posteriorly rotated ears | |
| Frequent (79-30%) | ||
| HP:0002901 | Hypocalcemia | |
| HP:0003128 | Lactic acidosis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001558 | Decreased fetal movement | |
| HP:0001943 | Hypoglycemia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163693
- This record as JSON: /data/d/163693.json