H syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | H syndrome | |
| fr | Syndrome H | |
| de | H-Syndrom | Histiozytose-Lymphadenopathie-Plus-Syndrom · PHID-Syndrom |
| es | Síndrome H | |
| it | Sindrome H | |
| nl | H-syndroom | |
| pt | Síndrome H | |
| pl | Zespół H | |
| cs | H syndrom | |
| uk | H-синдром | |
| zh | 组织细胞增生-淋巴结肿大综合征 | |
| tr | H sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602782 | E | validated | |
| ICD-10 | D76.3 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0011273 | E | validated | |
| UMLS | C1864445 | E | validated | |
| GARD | 10239 | 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 (5):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:181371Rare diabetes mellitus type 1
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:254707Faisalabad histiocytosis moved to · inactive
- ORPHA:254712Familial sinus histiocytosis with massive lymphadenopathy moved to · inactive
- ORPHA:254723Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC29A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:23096 | ENSG00000198246 | 612373 | 10q22.1 | solute carrier family 29 member 3 | 18940313[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 24172204[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24172204[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
50 annotations · validated 2016-02-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0100727 | Histiocytosis | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0100324 | Scleroderma | |
| HP:0030053 | Stiff skin | |
| Frequent (79-30%) | ||
| HP:0012385 | Camptodactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000998 | Hypertrichosis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0011025 | Abnormality of cardiovascular system physiology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001596 | Alopecia | |
| HP:0000141 | Amenorrhea | |
| HP:0000027 | Azoospermia | |
| HP:0002110 | Bronchiectasis | |
| HP:0002257 | Chronic rhinitis | |
| HP:0000204 | Cleft upper lip | |
| HP:0001084 | Corneal arcus | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000105 | Enlarged kidney | |
| HP:0007380 | Facial telangiectasia | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000771 | Gynecomastia | |
| HP:0001822 | Hallux valgus | |
| HP:0100790 | Hernia | |
| HP:0000238 | Hydrocephalus | |
| HP:0001347 | Hyperreflexia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000135 | Hypogonadism | |
| HP:0008064 | Ichthyosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0009125 | Lipodystrophy | |
| HP:0002024 | Malabsorption | |
| HP:0001935 | Microcytic anemia | |
| HP:0000054 | Micropenis | |
| HP:0002797 | Osteolysis | |
| HP:0001763 | Pes planus | |
| HP:0000520 | Proptosis | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0001954 | Recurrent fever | |
| HP:0002757 | Recurrent fractures | |
| HP:0100776 | Recurrent pharyngitis | |
| HP:0012724 | Upper eyelid edema | |
| HP:0002619 | Varicose veins | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 22238637[PMID]_21888995[PMID]_18940313[PMID]_18410979[PMID]_16155931[PMID]_16650224[PMID]_16118898[PMID]_9545394[PMID]_7524755[PMID]_24131530[PMID]_24172204[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168569
- This record as JSON: /data/d/168569.json