2p21 microdeletion syndrome without cystinuria
Synonyms: Del(2)(p21) without cystinuria
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2p21 microdeletion syndrome without cystinuria | Del(2)(p21) without cystinuria |
| fr | Syndrome de microdélétion 2p21 sans cystinurie | Del(2)(p21) sans cystinurie |
| de | 2p21-Mikrodeletionssyndrom ohne Cystinurie | Del(2)(p21) ohne Cystinurie |
| es | Síndrome de microdeleción 2p21 sin cistinuria | Del(2)(p21) sin cistinuria |
| it | Sindrome da microdelezione 2p21 senza cistinuria | Del(2)(p21) senza cistinuria |
| nl | 2p21-microdeletiesyndroom zonder cystinurie | Del(2)(p21) zonder cystinurie |
| pt | Síndrome de microdeleção 2p21 sem cistinúria | |
| pl | Zespół mikrodelecji 2p21 bez cystynurii | Del(2)(p21) bez cystynurii |
| cs | Mikrodeleční syndrom 2p21 bez cystinurie | Del(2)(p21) bez cystinurie |
| uk | Синдром мікроделеції 2р21 без цистинурії | Del(2)(p21) без цистинурії |
| zh | 2p21微缺失综合征不伴胱氨酸尿 | 2p21缺失不伴胱氨酸尿 |
| tr | Sistinüri olmayan 2p21 mikrodelesyon sendromu | Del (2) (p21) sistinüri ile seyretmeyen |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018245 | E | validated | |
| UMLS | C4749458 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:369886Homozygous 2p21 microdeletion syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
2 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 | 23794250[PMID] |
| PREPL | Role in the phenotype of | Assessed | HGNC:30228 | ENSG00000138078 | 609557 | 2p21 | prolyl endopeptidase like | 23794250[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23794250[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369881
- This record as JSON: /data/d/369881.json