H syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FAISALABAD HISTIOCYTOSIS
H SYNDROME
HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS
ROSAI-DORFMAN DISEASE, FAMILIAL
PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS
SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY
HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS
HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS
HJCD
SHML
PHID
Number of Symptoms 39
OrphanetNr: 168569
OMIM Id: 602782
ICD-10: D76.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease
Systemic non-Langerhans cell histiocytosis
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
2
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
(HPO:0000520) Proptosis 192 / 7739
4
(HPO:0100534) Episcleritis 9 / 7739
5
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
(HPO:0100651) Type I diabetes mellitus 44 / 7739
7
(HPO:0000824) Growth hormone deficiency 56 / 7739
8
(HPO:0002987) Elbow flexion contracture 64 / 7739
9
(HPO:0001822) Hallux valgus 70 / 7739
10
(HPO:0012385) Camptodactyly 113 / 7739
11
(HPO:0001744) Splenomegaly 337 / 7739
12
(HPO:0005200) Retroperitoneal fibrosis 5 / 7739
13
(HPO:0002240) Hepatomegaly 467 / 7739
14
(HPO:0004322) Short stature 1232 / 7739
15
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
16
(HPO:0001640) Cardiomegaly 81 / 7739
17
(HPO:0001634) Mitral valve prolapse 69 / 7739
18
(HPO:0001629) Ventricular septal defect 316 / 7739
19
(HPO:0001631) Atria septal defect 274 / 7739
20
(HPO:0008940) Generalized lymphadenopathy 14 / 7739
21
(HPO:0002716) Lymphadenopathy 129 / 7739
22
(OMIM) Contractures of toes 4 / 7739
23
(OMIM) Nonclonal myeloproliferation 4 / 7739
24
(MedDRA:10058668) Clinodactyly 91 / 7739
25
(OMIM) Histiocytic deposits in eyelids 4 / 7739
26
(OMIM) Contractures of fingers 4 / 7739
27
(OMIM) Retropharyngeal lymphadenopathy 4 / 7739
28
(OMIM) Exocrine pancreatic deficiency 6 / 7739
29
(OMIM) Septal thickening (rare) 4 / 7739
30
(OMIM) Orbital mass due to histiocytosis 4 / 7739
31
(OMIM) Inguinal lymphadenopathy, bilateral, extending across suprapubic area 4 / 7739
32
(OMIM) Pancreatic hypoplasia, mild (rare) 4 / 7739
33
(OMIM) Intrauterine fractures of long bones and clavicles 4 / 7739
34
(OMIM) Hyperglobulinemia, polyclonal (in some patients) 4 / 7739
35
(OMIM) Nasal mass due to histiocytosis 4 / 7739
36
(OMIM) Eyelid infiltrates 4 / 7739
37
(OMIM) Bicommissural aortic valve 5 / 7739
38
(OMIM) Pancreatomegaly (rare) 4 / 7739
39
(OMIM) Elevated inflammatory markers 4 / 7739

Associated genes:

SLC29A3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal ...
Clinical Description OMIM Familial forms of histiocytosis are rare (Cline, 1994). In a highly consanguineous family originating from Pakistan, Moynihan et al. (1998) observed a seemingly new form of histiocytosis associated with joint contractures and sensorineural deafness, which they designated 'Faisalabad histiocytosis.' ...
Molecular genetics OMIM In 18 patients from 10 Arab families with H syndrome mapping to a 1.53-Mb region on chromosome 10, Molho-Pessach et al. (2008) identified homozygosity or compound heterozygosity for 2 missense mutations and a 1-bp deletion in the SLC29A3 gene ...