ORPHA:688581
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
Synonyms: MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome | MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome |
| fr | Syndrome d'hypoplasie médiofaciale-surdité-elliptocytose-néphrocalcinose | |
| de | Mittelgesichtshypoplasie-Hörbehinderung- Elliptozytose-Nephrokalzinose-Syndrom | MFHIEN · Syndrom der Mittelgesichtshypoplasie mit Hörverlust, Elliptozytose und Nephrokalzinose |
| es | Síndrome de hipoplasia mediofacial-discapacidad auditiva-eliptocitosis-nefrocalcinosis | Síndrome de hipoplasia mediofacial-hipoacusia-eliptocitosis-nefrocalcinosis |
| it | Sindrome ipoplasia medio-facciale-ipoacusia-ellissocitosi-nefrocalcinosi | MFHIEN · Sindrome ipoplasia medio-facciale-sordità-ellissocitosi-nefrocalcinosi |
| nl | Hypoplasie van middengezicht - gehoorstoornis - elliptocytose - nefrocalcinose-syndroom | Hypoplasie van middengezicht - gehoorverlies - elliptocytose - nefrocalcinose-syndroom · MFHIEN |
| pt | Síndrome de hipoplasia da face média-compromisso auditivo-eliptocitose-nefrocalcinose | MFHIEN · Síndrome de hipoplasia da face média-perda auditiva-eliptocitose-nefrocalcinose |
| pl | Zespół hipoplazji środkowej części twarzy, upośledzenia słuchu, eliptocytozy i wapnicy nerkowej | = en |
| cs | Syndrom zahrnující hypoplazii střední částí obličeje, poruchu sluchu, eliptocytózu a nefrokalcinózu | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300990 | E | validated | |
| ICD-10 | H90.3 | NTBT | attributed | not yet validated |
| MONDO | 10516 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:182043Rare constitutional hemolytic anemia
rare genetic diseases; rare hematological diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMMECR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:467 | ENSG00000101935 | 300195 | Xq23 | AMMECR nuclear protein 1 | 27811305[PMID]_28089922[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 27811305[PMID]_28089922[PMID]_29193635[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27811305[PMID]_28089922[PMID]_29193635[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/688581
- This record as JSON: /data/d/688581.json