Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonyms: Shaheen syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Shaheen syndrome |
| fr | Syndrome d'hypohidrose-hypoplasie de l'émail-kératodermie palmoplantaire-déficience intellectuelle | Syndrome de Shaheen |
| de | Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom | Shaheen-Syndrom |
| es | Síndrome de hipohidrosis-hipoplasia del esmalte-queratodermia palmoplantar-discapacidad intelectual | Síndrome de Shaheen |
| it | Sindrome ipoidrosi-ipoplasia dello smalto-cheratoderma palmoplantare-disabilità intellettiva | Sindrome Shateen |
| nl | Hypohidrose - glazuurhypoplasie - palmoplantaire keratodermie - intellectuele achterstand-syndroom | Syndroom van Shaheen |
| pt | Síndrome de hipohidrose-hipoplasia do esmalte-queratodermia palmoplantar-perturbação do desenvolvimento intelectual | Síndrome Shaheen |
| pl | Zespół hipohydroza-hipoplazja szkliwa-rogowiec dłoniowo-podeszwowy-niepełnosprawność intelektualna | = en |
| cs | Syndrom zahrnující hypohidrózu, hypoplázii zubní skloviny, palmoplantární keratoderma a mentální retardaci | = en |
| uk | Синдром гіпогідрозу-гіпоплазії емалі-долонно-підошовної кератодермії-інтелектуальної недостатності | Синдром Шахіна |
| zh | 多汗-牙釉质发育不良-掌跖角化-智力障碍综合征 | Shaheen综合征 |
| tr | Hipohidroz-mine hipoplazisi-palmoplantar keratoderma-zihinsel yetersizlik sendromu | Shaheen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615328 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| MONDO | 0014131 | E | validated | |
| UMLS | C3809160 | 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 (3):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| COG6 | Disease-causing germline mutation(s) in | Assessed | HGNC:18621 | ENSG00000133103 | 606977 | 13q14.11 | component of oligomeric golgi complex 6 | 23606727[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 23606727[PMID] | |
| 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.
HPO phenotypes
16 annotations · validated 2019-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000455 | Broad nasal tip | |
| HP:0000670 | Carious teeth | |
| HP:0012434 | Delayed social development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000966 | Hypohidrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0001954 | Recurrent fever | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0012115 | Hepatitis | |
| HP:0040196 | Mild microcephaly | |
| HP:0005484 | Secondary microcephaly | |
| Excluded (0%) | ||
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
Annotation source: 23606727[PMID]_26260076[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363523
- This record as JSON: /data/d/363523.json