ORPHA:1606
1p36 deletion syndrome
Synonyms: Del(1)(p36) · Deletion 1p36 · Deletion 1pter · Monosomy 1p36 · Monosomy 1pter · Subtelomeric 1p36 deletion
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1p36 deletion syndrome | Del(1)(p36) · Deletion 1p36 · Deletion 1pter · Monosomy 1p36 · Monosomy 1pter · Subtelomeric 1p36 deletion |
| fr | Syndrome de délétion 1p36 | Del(1)(p36) · Délétion 1p36 · Délétion 1pter · Délétion subtélomérique 1p36 · Monosomie 1p36 · Monosomie 1pter |
| de | 1p36-Deletionssyndrom | Del(1)(p36) · Deletion 1p36 · Deletion 1pter · Monosomie 1p36 · Monosomie 1pter · Subtelomere 1p36-Deletion |
| es | Síndrome de deleción 1p36 | Del(1)(p36) · Deleción 1p36 · Deleción 1pter · Deleción subtelomérica 1p36 · Monosomía 1p36 · Monosomía 1pter |
| it | Sindrome da delezione 1p36 | Del(1)(p36) · Delezione 1p36 · Delezione 1p36 subtelomerica · Delezione 1pter · Monosomia 1p36 · Monosomia 1pter |
| nl | 1p36-deletiesyndroom | Del(1)(p36) · Deletie 1p36 · Deletie 1pter · Monosomie 1p36 · Monosomie 1pter · Subtelomerische 1p36-deletie |
| pt | Síndrome de deleção 1p36 | Monossomia 1p36 |
| pl | Zespół delecji 1p36 | Del(1)(p36) · Delecja 1p36 · Delecja 1pter · Delecja subtelomerowa 1p36 · Monosomia 1p36 · Monosomia 1pter |
| cs | Deleční syndrom 1p36 | Del(1)(p36) · Delece 1p36 · Delece 1pter · Monozomie 1q36 · Monozomie 1pter · Subtelomerická 1p36 delece |
| uk | Синдром делеції 1p36 | Del(1)(p36) · Делеція 1p36 · Делеція 1pter · Моносомія 1p36 · Моносомія 1pter · Делеція субтеломерної ділянки 1p36 |
| zh | 1p36缺失综合征 | 亚远端着丝粒1p36缺失 |
| tr | 1p36 delesyon sendromu | Del (1) (p36) · Delesyon 1p36 · Monozomi 1p36 · 1pter delesyon · Monozomi 1pter · Subtelomerik 1p36 delesyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607872 | BTNT | validated | |
| OMIM | 616975 | NTBT | validated | |
| OMIM | 619343 | BTNT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.11 | NTBT | index | validated |
| MONDO | 0011929 | E | validated | |
| MeSH | C535362 | E | validated | |
| UMLS | C1842870 | E | validated | |
| GARD | 6082 | E | validated | |
| MedDRA | 10082398 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:261857Partial deletion of the short arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASZ1 | Role in the phenotype of | Assessed | HGNC:26002 | ENSG00000130940 | 609895 | 1p36.22 | castor zinc finger 1 | 24454898[PMID] |
| GABRD | Role in the phenotype of | Assessed | HGNC:4084 | ENSG00000187730 | 137163 | 1p36.33 | gamma-aminobutyric acid type A receptor subunit delta | 22766398[PMID] |
| HSPG2 | Role in the phenotype of | Assessed | HGNC:5273 | ENSG00000142798 | 142461 | 1p36.12 | heparan sulfate proteoglycan 2 | 26345236[PMID] |
| KCNAB2 | Role in the phenotype of | Assessed | HGNC:6229 | ENSG00000069424 | 601142 | 1p36.31 | potassium voltage-gated channel subfamily A regulatory beta subunit 2 | 22766398[PMID]_17633087[PMID] |
| LUZP1 | Role in the phenotype of | Assessed | HGNC:14985 | ENSG00000169641 | 601422 | 1p36.12 | leucine zipper protein 1 | 26345236[PMID] |
| MMP23B | Role in the phenotype of | Assessed | HGNC:7171 | ENSG00000189409 | 603321 | 1p36.33 | matrix metallopeptidase 23B | 26345236[PMID] |
| PDPN | Role in the phenotype of | Assessed | HGNC:29602 | ENSG00000162493 | 608863 | 1p36.21 | podoplanin | 26345236[PMID] |
| PRDM16 | Role in the phenotype of | Assessed | HGNC:14000 | ENSG00000142611 | 605557 | 1p36.32 | PR/SET domain 16 | 23768516[PMID] |
| PRKCZ | Role in the phenotype of | Assessed | HGNC:9412 | ENSG00000067606 | 176982 | 1p36.33 | protein kinase C zeta | 24454898[PMID] |
| RERE | Role in the phenotype of | Assessed | HGNC:9965 | ENSG00000142599 | 605226 | 1p36.23 | arginine-glutamic acid dipeptide repeats | 27087320[PMID] |
| SKI | Role in the phenotype of | Assessed | HGNC:10896 | ENSG00000157933 | 164780 | 1p36.33-p36.32 | SKI proto-oncogene | 22766398[PMID]_12376748[PMID] |
| SPEN | Role in the phenotype of | Assessed | HGNC:17575 | ENSG00000065526 | 613484 | 1p36.21-p36.13 | spen family transcriptional repressor | 26345236[PMID] |
| UBE4B | Role in the phenotype of | Assessed | HGNC:12500 | ENSG00000130939 | 613565 | 1p36.22 | ubiquitination factor E4B | 24454898[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 15 / 100 000 | United States | Value and class | Validated | 9326330[PMID] |
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | United States | Value and class | Validated | 9326330[PMID]_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.
6
HPO phenotypes
99 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001344 | Absent speech | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0011800 | Midface retrusion | |
| HP:0000307 | Pointed chin | |
| HP:0002465 | Poor speech | |
| HP:0001773 | Short foot | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000504 | Abnormality of vision | |
| HP:0000708 | Atypical behavior | |
| HP:0000717 | Autism | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002015 | Dysphagia | |
| HP:0000286 | Epicanthus | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0008499 | High hypermetropia | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000878 | 11 pairs of ribs | |
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0004378 | Abnormality of the anus | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000464 | Abnormality of the neck | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0001734 | Annular pancreas | |
| HP:0000892 | Bifid ribs | |
| HP:0000518 | Cataract | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000028 | Cryptorchidism | |
| HP:0005113 | Dilatation of the aortic arch | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001829 | Foot polydactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0002230 | Generalized hirsutism | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001385 | Hip dysplasia | |
| HP:0000126 | Hydronephrosis | |
| HP:0000135 | Hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0012733 | Macule | |
| HP:0008551 | Microtia | |
| HP:0003198 | Myopathy | |
| HP:0003006 | Neuroblastoma | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0001107 | Ocular albinism | |
| HP:0000648 | Optic atrophy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002591 | Polyphagia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000107 | Renal cyst | |
| HP:0000902 | Rib fusion | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0001009 | Telangiectasia | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1606
- This record as JSON: /data/d/1606.json