ORPHA:398079
SIM1-related Prader-Willi-like syndrome
Synonyms: SIM1-related PWLS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SIM1-related Prader-Willi-like syndrome | SIM1-related PWLS |
| fr | Syndrome de Prader-Willi-like associé à SIM1 | SPW-like associé à SIM1 |
| de | SIM1-assoziiertes Prader-Willi-ähnliches Syndrom | |
| es | Síndrome similar a Prader-Willi asociado a SIM1 | Síndrome similar a Prader-Willi por una mutación puntual |
| it | Sindrome Prader-Willi-simile da mutazione puntiforme | PWS-simile da mutazione puntiforme |
| nl | SIM1-gerelateerd Prader-Willi-achtig syndroom | SIM1-gerelateerd PWLS |
| pt | Síndrome Prader-Willi-like SIM1-relacionada | Síndrome semelhante a Prader-Willi devido a mutação pontual |
| pl | Zespół podobny do zespołu Pradera i Willego z powodu mutacji punktowej | Zespół podobny do zespołu Pradera i Willego z powodu mutacji punktowej |
| cs | Syndrom Prader-Willi-like způsobený bodovými mutacemi | = en |
| uk | Синдром Прадера-Віллі, повязаний з SIM1 | PWLS, повязані з SIM1 |
| zh | SIM1相关普拉德-威利样综合征 | SIM1相关PWLS |
| tr | SIM1-ilişkili Prader-Willi benzeri sendrom | SIM1 ilişkili PWLS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0018355 | E | validated | |
| UMLS | C5680040 | 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 (1):
- ORPHA:398073Prader-Willi-like syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10882 | ENSG00000112246 | 603128 | 6q16.3 | SIM bHLH transcription factor 1 | 23778136[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 23778136[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23778136[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.
6
HPO phenotypes
64 annotations · validated 2020-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000028 | Cryptorchidism | |
| HP:0008947 | Floppy infant | |
| HP:0000135 | Hypogonadism | |
| HP:0000789 | Infertility | |
| HP:0001270 | Motor delay | |
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0008197 | Absence of pubertal development | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0008734 | Decreased testicular size | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0012287 | Hypothalamic luteinizing hormone-releasing hormone deficiency | |
| HP:0001249 | Intellectual disability | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002591 | Polyphagia | |
| HP:0000786 | Primary amenorrhea | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0012166 | Skin-picking | |
| HP:0200055 | Small hand | |
| HP:0012506 | Small pituitary gland | |
| HP:0000046 | Small scrotum | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0011787 | Central hypothyroidism | |
| HP:0010536 | Central sleep apnea | |
| HP:0040030 | Chorioretinal hypopigmentation | |
| HP:0025237 | Confusional arousal | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001385 | Hip dysplasia | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0001254 | Lethargy | |
| HP:0000054 | Micropenis | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000826 | Precocious puberty | |
| HP:0012412 | Premature adrenarche | |
| HP:0012411 | Premature pubarche | |
| HP:0000709 | Psychosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0000217 | Xerostomia | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 27777904[PMID]_20301505[PMID]_23778136[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398079
- This record as JSON: /data/d/398079.json