ORPHA:1573
Hypotrichosis with juvenile macular degeneration
Synonyms: HJMD · Hypotrichosis with juvenile macular dystrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotrichosis with juvenile macular degeneration | HJMD · Hypotrichosis with juvenile macular dystrophy |
| fr | Hypotrichose avec dégénérescence maculaire juvénile | HJMD |
| de | Hypotrichose mit juveniler Makuladegeneration | HJMD · Hypotrichose mit juveniler Makuladystrophie · Makuladystrophie - Hypotrichose, juvenile Form |
| es | Degeneración macular juvenil con hipotricosis | Distrofia macular juvenil con hipotricosis · HJMD |
| it | Ipotricosi con degenerazione maculare giovanile | HJMD · Ipotricosi con distrofia maculare giovanile |
| nl | Hypotrichose met juveniele maculadegeneratie | HJMD · Hypotrichose met juveniele maculadystrofie |
| pt | Hipotricose com degenerescência macular juvenil | Degenerescência macular juvenil-hipotricose |
| pl | Hipotrichoza z młodzieńczym zwyrodnieniem plamki | Hipotrichoza z młodzieńczą dystrofią plamki · HJMD |
| cs | Hypotrichóza s juvenilní makulární degenerací | HJMD · Hypotrichóza s juvenilní makulární dystrofií |
| uk | Гіпотрихоз з ювенільною макулодистрофією | HJMD · Гіпотрихоз з ювенільною макулодистрофією |
| zh | 稀毛症伴青少年黄斑变性 | 少毛症伴青少年黄斑变性 |
| tr | Jüvenil maküler dejenerasyonlu hipotrikoz | HJMD · Jüvenil maküler distrofili hipotrikoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601553 | E | validated | |
| ICD-10 | Q84.0 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0011107 | E | validated | |
| MeSH | C537698 | E | validated | |
| UMLS | C1832162 | E | validated | |
| GARD | 3066 | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1762 | ENSG00000062038 | 114021 | 16q22.1 | cadherin 3 | 11544476[PMID]_12445216[PMID]_22140374[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008002 | Abnormality of macular pigmentation | |
| HP:0000618 | Blindness | |
| HP:0000608 | Macular degeneration | |
| HP:0004322 | Short stature | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0002299 | Brittle hair | |
| HP:0002213 | Fine hair | |
| HP:0003777 | Pili torti | |
| Occasional (29-5%) | ||
| HP:0002813 | Abnormality of limb bone morphology | |
| HP:0001480 | Freckling | |
| HP:0000962 | Hyperkeratosis | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000639 | Nystagmus | |
| HP:0002652 | Skeletal dysplasia | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1573
- This record as JSON: /data/d/1573.json