X-linked intellectual disability-psychosis-macroorchidism syndrome
Synonyms: Lindsay-Burn syndrome · PPM-X
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-psychosis-macroorchidism syndrome | Lindsay-Burn syndrome · PPM-X |
| fr | Syndrome de déficience intellectuelle liée à l'X-psychose-macroorchidie | PPM-X · Syndrome de Lindsay-Burn |
| de | X-chromosomale Intelligenzminderung-Psychose-Makroorchidie-Syndrom | Lindsay-Burn-Syndrom · PPM-X |
| es | Síndrome de discapacidad intelectual-psicosis-macroorquidia ligado al cromosoma X | PPM-X · Síndrome de Lindsay-Burn |
| it | Sindrome disabilità intellettiva legata all'X-psicosi-macroorchidismo | PPM-X · Sindrome di Lindsay-Burn |
| nl | X-gebonden intellectuele achterstand - psychose - macro-orchidisme-syndroom | PPM-X · Syndroom van Lindsay-Burn · X-gebonden intellectuele achterstand - psychose - macro-orchidie-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-psicose-macroorquidismo ligada ao X | PPM-X · Síndrome Lindsay-Burn |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - psychoza - makroorchidyzm | PPM-X · Zespół Lindsay'a i Burna |
| cs | X-vázaný syndrom zahrnující mentální retardaci, psychózu a makroorchidismus | PPM-X · Lindsayové-Burnův syndrom · Lindsay-Burnův syndrom |
| uk | Х-зчеплений синдром інтелектуальної недостатності-психозу-макроорхідізму | Синдром Ліндсі-Берна · PPM-X |
| zh | X连锁智力障碍-精神异常-巨大睾丸综合征 | Lindsay-Burn综合征 |
| tr | X'e bağlı zihinsel yetersizlik-psikoz-makroorşidizm sendromu | PPM-X · Lindsay-Burn sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300055 | E | validated | |
| ICD-10 | F71.1 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010235 | E | validated | |
| UMLS | C0796222 | E | validated | |
| GARD | 3506 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MECP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6990 | ENSG00000169057 | 300005 | Xq28 | methyl-CpG binding protein 2 | 11885030[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 8651288[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8651288[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.
HPO phenotypes
27 annotations · validated 2019-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000752 | Hyperactivity | |
| HP:0000737 | Irritability | |
| HP:0000053 | Macroorchidism | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002039 | Anorexia | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0001635 | Congestive heart failure | |
| HP:0011188 | Focal EEG discharges with secondary generalization | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0004322 | Short stature | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0100852 | Abnormal fear/anxiety-related behavior | |
| HP:0002136 | Broad-based gait | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001513 | Obesity | |
| HP:0001300 | Parkinsonism | |
| HP:0002322 | Resting tremor | |
| HP:0002362 | Shuffling gait | |
| HP:0025403 | Stooped posture | |
| HP:0001297 | Stroke | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 8651288[PMID]_11885030[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3077
- This record as JSON: /data/d/3077.json