ORPHA:565
Menkes disease
Synonyms: MD · Menkes kinky hair disease · Menkes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Menkes disease | MD · Menkes kinky hair disease · Menkes syndrome |
| fr | Maladie de Menkes | MD · Syndrome de Menkes · Syndrome des cheveux en fils de fer de Menkes |
| de | Menkes-Syndrom | Kraushaarsyndrom · Kräuselhaarkrankheit · Kupfer-Mangel, X-chromosomaler · MK · MNK · Menkes-Krankheit · Menkes-Stahlhaarkrankheit · Trichopoliodystrophie |
| es | Enfermedad de Menkes | Enfermedad del cabello rizado de Menkes · Síndrome de Menkes |
| it | Malattia di Menkes | MD · Malattia dei capelli crespi · Malattia dei capelli crespi di Menkes · Sindrome di Menkes |
| nl | Ziekte van Menkes | Kroeshaarziekte van Menkes · MD · Syndroom van Menkes |
| pt | Doença Menkes | Síndrome Menkes · Tricopoliodistrofia |
| pl | Choroba Menkesa | Choroba kręconych włosów · Choroba stalowych włosów · Niedobór miedzi sprzężony z chromosomem X · Trichopoliodystrofia · Zespół kręconych włosów · Zespół Menkesa · Zespół stalowych włosów |
| cs | Menkesova nemoc | Kinky-hair syndrom · MD · MK · MNK · Steely hair syndrom · Trichopoliodystrofie · Nemoc kudrnatých vlasů · Menkesův syndrom · Syndrom uzlíčkovatých vlasů · X-vázaný deficit mědi |
| uk | Хвороба Менкеса | MD · Хвороба кучерявого волосся Менкеса · Синдром Менкеса |
| zh | Menkes病 | X连锁铜缺乏症 |
| tr | Menkes hastalığı | MD · MK · MNK · Menkes sendromu · Kinky saç hastalığı · Kinky saç sendromu · Steely saç hastalığı · Steely saç sendromu · Trikopoliodistrofi · X'e bağlı bakır eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309400 | E | validated | |
| ICD-10 | E83.0 | NTBT | inclusion | validated |
| ICD-11 | 5C64.0Y | NTBT | index | validated |
| MONDO | 0010651 | E | validated | |
| MeSH | D007706 | E | validated | |
| UMLS | C0022716 | E | validated | |
| GARD | 1521 | E | validated | |
| MedDRA | 10027294 | 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 (5):
- ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225692Metal transport or utilization disorder with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79367Syndromic hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP7A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:869 | ENSG00000165240 | 300011 | Xq21.1 | ATPase copper transporting alpha | 20301586[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.33 / 100 000 | Europe | Value and class | Not yet validated | 1999344[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 / 100 000 | Japan | Value and class | Validated | 15902550[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Australia | Value and class | Validated | 15902550[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
55 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0002376 | Developmental regression | |
| HP:0002617 | Dilatation | |
| HP:0000958 | Dry skin | |
| HP:0012378 | Fatigue | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0100790 | Hernia | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001276 | Hypertonia | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0000767 | Pectus excavatum | |
| HP:0001250 | Seizure | |
| HP:0008070 | Sparse hair | |
| HP:0001257 | Spasticity | |
| HP:0001537 | Umbilical hernia | |
| HP:0002224 | Woolly hair | |
| Frequent (79-30%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005344 | Abnormality of the carotid arteries | |
| HP:0100545 | Arterial stenosis | |
| HP:0000708 | Atypical behavior | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0100777 | Exostoses | |
| HP:0000293 | Full cheeks | |
| HP:0001249 | Intellectual disability | |
| HP:0002024 | Malabsorption | |
| HP:0000298 | Mask-like facies | |
| HP:0000347 | Micrognathia | |
| HP:0001324 | Muscle weakness | |
| HP:0000774 | Narrow chest | |
| HP:0002017 | Nausea and vomiting | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0000269 | Prominent occiput | |
| HP:0001072 | Thickened skin | |
| HP:0005293 | Venous insufficiency | |
| HP:0002645 | Wormian bones | |
| Occasional (29-5%) | ||
| HP:0000015 | Bladder diverticulum | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0002072 | Chorea | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001943 | Hypoglycemia | |
| HP:0002045 | Hypothermia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002754 | Osteomyelitis | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| HP:0100806 | Sepsis | |
| HP:0007420 | Spontaneous hematomas | |
| HP:0008368 | Tarsal synostosis | |
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/565
- This record as JSON: /data/d/565.json