HLAS
MCID: HST017
MIFTS: 67

Histiocytosis-Lymphadenopathy Plus Syndrome (HLAS)

Categories: Bone diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Histiocytosis-Lymphadenopathy Plus Syndrome

MalaCards integrated aliases for Histiocytosis-Lymphadenopathy Plus Syndrome:

Name: Histiocytosis-Lymphadenopathy Plus Syndrome 57 11 19 42 73 14 38
H Syndrome 57 11 19 58 73 28 5 75
Histiocytosis with Joint Contractures and Sensorineural Deafness 57 11 19 73 71
Faisalabad Histiocytosis 57 11 19 73 12
Shml 57 11 19 58 73
Rosai-Dorfman Disease 19 58 75 53
Hjcd 57 11 19 73
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus 57 11 73
Sinus Histiocytosis and Massive Lymphadenopathy 57 11 73
Phid 57 11 73
Sinus Histiocytosis with Massive Lymphadenopathy 19 58
Familial Rosai-Dorfman Disease 11 73
Slc29a3 Spectrum Disorder 19 42
Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or Without Hearing Loss 57
Histiocytosis and Lymphadenopathy with or Without Cutaneous, Cardiac, and/or Endocrine Features, Joint Contractures, and/or Deafness 57
Cutaneous Hyperpigmentation with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or Without Hearing Loss 11
Histiocytosis and Lymphadenopathy with or Without Cutaneous, Cardiac, and/or Endocrine Features, Joint Contractures and/or Deafness 11
Cutaneous Hyperpigmentation with Hypertrichosis Hepatosplenomegaly Heart Anomalies and Hypogonadism with or Without Hearing Loss 73
Histiocytosis and Lymphadenopathy with or Without Cutaneous Cardiac and/or Endocrine Features Joint Contractures and/or Deafness 73
Rosai-Dorfman Disease, Familial 57
Destombes-Rosai-Dorfman Disease 58
Rosai-Dorfman-Destombes Disease 58
Rosaï-Dorfman Disease 19
Sinus Histiocytosis 71
Slc29a3 Disorder 42
H Disease 53
Hlas 73
Rdd 19

Characteristics:


Inheritance:

Histiocytosis-Lymphadenopathy Plus Syndrome: Autosomal recessive 57
H Syndrome: Autosomal recessive 58

Prevelance:

H Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

H Syndrome: Childhood 58
Rosai-Dorfman Disease: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
very variable phenotype, with some patients having many features and others only a few


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Histiocytosis-Lymphadenopathy Plus Syndrome

MedlinePlus Genetics: 42 Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (RDD). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of the conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary even within the same family.A feature common to the disorders in this spectrum is histiocytosis, which is the overgrowth of immune system cells called histiocytes. The cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The buildup often occurs in the lymph nodes, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include the skin, kidneys, brain and spinal cord (central nervous system), or digestive tract.This spectrum is known as histiocytosis-lymphadenopathy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. A characteristic feature of H syndrome is abnormal patches of skin (lesions), typically on the lower body. These lesions are unusually dark (hyperpigmented) and have excessive hair growth (hypertrichosis). In addition, histiocytes accumulate at the site of the skin lesions. Other features of H syndrome include enlargement of the liver (hepatomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature.Like H syndrome, PHID causes patches of hyperpigmented skin with hypertrichosis. PHID is also characterized by the development of type 1 diabetes (also known as insulin-dependent diabetes mellitus), which usually begins in childhood. Type 1 diabetes occurs when the body does not produce enough of the hormone insulin, leading to dysregulation of blood sugar levels.Faisalabad histiocytosis typically causes lymphadenopathy and swelling of the eyelids due to accumulation of histiocytes. Affected individuals can also have joint deformities called contractures in their fingers or toes and hearing loss.The most common feature of familial RDD is lymphadenopathy, usually affecting lymph nodes in the neck. Histiocytes can also accumulate in other parts of the body. (Familial RDD is one of several forms of RDD; the other forms are not considered part of histiocytosis-lymphadenopathy plus syndrome.)

MalaCards based summary: Histiocytosis-Lymphadenopathy Plus Syndrome, also known as h syndrome, is related to hemoglobin h disease and igg4-related disease, and has symptoms including fever An important gene associated with Histiocytosis-Lymphadenopathy Plus Syndrome is SLC29A3 (Solute Carrier Family 29 Member 3), and among its related pathways/superpathways are Circadian Clock and Hematopoietic Stem Cells and Lineage-specific Markers. The drugs Prednisone and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lymph node, and related phenotypes are delayed puberty and fever

GARD: 19 Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by genetic changes in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern.

OMIM®: 57 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 recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012). (602782) (Updated 08-Dec-2022)

Orphanet 58 Rosai-dorfman disease: A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.

H syndrome: 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.

UniProtKB/Swiss-Prot: 73 A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally 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 features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome.

Disease Ontology: 11 A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has material basis in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.

Wikipedia 75 H syndrome: H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic... more...

Rosai-dorfman disease: Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as... more...

Related Diseases for Histiocytosis-Lymphadenopathy Plus Syndrome

Diseases related to Histiocytosis-Lymphadenopathy Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 681)
# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 32.1 HBZ HBQ1 HBE1 HBB HBA2 HBA1
2 igg4-related disease 31.2 CD1E CD1A
3 cutaneous fibrous histiocytoma 30.5 SERPINA3 S100B CD68
4 meningioma, familial 30.5 SERPINA3 S100B CD68 CD1E CD1B CD1A
5 microcytic anemia 30.4 HBB HBA2 G6PD
6 erdheim-chester disease 30.3 SERPINA3 CD1E CD1C CD1B CD1A
7 fibrous histiocytoma 30.3 SERPINA3 S100B CD68 CD163
8 malignant fibrous histiocytoma 30.3 SERPINA3 S100B CD68
9 xanthogranulomatous pyelonephritis 30.2 SERPINA3 CD68
10 hemolytic anemia 30.1 HBQ1 HBE1 HBB HBA2 HBA1 G6PD
11 thalassemia 30.1 HBZ HBQ1 HBE1 HBB HBA2 HBA1
12 alpha-thalassemia 30.0 HBZ HBQ1 HBE1 HBB HBA2 HBA1
13 granular cell tumor 30.0 SERPINA3 S100B CD68
14 sickle cell disease 30.0 HBB HBA2 G6PD
15 folliculitis 30.0 CD1E CD1B CD1A
16 beta-thalassemia 30.0 HBE1 HBB HBA2 HBA1 G6PD
17 hemoglobin e disease 29.9 SERPINA3 HBQ1 HBE1 HBB
18 hypochromic microcytic anemia 29.9 HBE1 HBB HBA2 HBA1
19 mycosis fungoides 29.8 CD1C CD1B CD1A
20 otorrhea 29.7 CD1E CD1C CD1B CD1A
21 dermatofibrosarcoma protuberans 29.7 SERPINA3 S100B CD68 CD163
22 central diabetes insipidus 29.7 CD1E CD1D CD1C CD1B CD1A
23 histiocytosis 29.7 SLC29A3 SERPINA3 S100B CD1C CD1A CD163
24 thalassemia minor 29.6 HBE1 HBB HBA2 HBA1
25 hereditary elliptocytosis 29.6 HBE1 HBB G6PD
26 hereditary spherocytosis 29.6 HBE1 HBB G6PD
27 glucosephosphate dehydrogenase deficiency 29.6 HBE1 HBB HBA2 HBA1 G6PD
28 polycythemia 29.5 HBB HBA2 HBA1
29 splenomegaly 29.4 HBB HBA2 HBA1
30 adult xanthogranuloma 29.3 CD1E CD1D CD1C CD1B CD1A
31 beta-thalassemia major 29.3 HBQ1 HBE1 HBB HBA2 HBA1
32 deficiency anemia 29.3 SERPINA3 HBE1 HBB HBA2 HBA1 G6PD
33 orbital disease 29.2 CD68 CD1E CD1D CD1C CD1B CD1A
34 rhinoscleroma 29.2 SLC29A3 CD68 CD1E CD1D CD1C CD1B
35 sickle cell anemia 29.1 HBQ1 HBE1 HBB HBA2 HBA1 G6PD
36 leprosy 3 29.1 SERPINA3 CD1E CD1D CD1C CD1B CD1A
37 hemoglobinopathy 29.1 SERPINA3 HBZ HBQ1 HBE1 HBB HBA2
38 orbital cancer 29.1 CD68 CD1E CD1D CD1C CD1B CD1A
39 fetal hemoglobin quantitative trait locus 1 29.0 HBQ1 HBE1 HBB HBA2 HBA1
40 polyclonal hypergammaglobulinemia 29.0 SLC29A3 SERPINA3 CD1E CD1D CD1C CD1B
41 skin disease 28.8 SERPINA3 CD68 CD1E CD1D CD1C CD1B
42 juvenile xanthogranuloma 28.8 SERPINA3 CD68 CD1E CD1D CD1C CD1B
43 connective tissue benign neoplasm 28.7 SERPINA3 CD68 CD1E CD1C CD1B CD1A
44 keratosis, seborrheic 28.7 CD1E CD1D CD1C CD1B CD1A
45 fibrosarcoma of bone 28.7 SERPINA3 CD68 CD1E CD1D CD1C CD1B
46 histiocytic sarcoma 28.6 SERPINA3 CD68 CD1E CD1D CD1C CD1B
47 granuloma annulare 28.5 CD68 CD1E CD1D CD1C CD1B CD1A
48 reticulohistiocytic granuloma 28.5 SERPINA3 CD68 CD1E CD1D CD1C CD1B
49 langerhans cell histiocytosis 27.8 SERPINA3 S100B CD68 CD1E CD1D CD1C
50 non-langerhans-cell histiocytosis 27.7 SERPINA3 CD68 CD1E CD1D CD1C CD1B

Graphical network of the top 20 diseases related to Histiocytosis-Lymphadenopathy Plus Syndrome:



Diseases related to Histiocytosis-Lymphadenopathy Plus Syndrome

Symptoms & Phenotypes for Histiocytosis-Lymphadenopathy Plus Syndrome

Human phenotypes related to Histiocytosis-Lymphadenopathy Plus Syndrome:

58 30 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000823
2 fever 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001945
3 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
4 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
5 lymphadenopathy 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0002716
6 scleroderma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100324
7 hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000953
8 histiocytosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0100727
9 dysgammaglobulinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002961
10 stiff skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030053
11 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
12 short stature 58 30 Very rare (1%) Frequent (79-30%)
HP:0004322
13 hepatosplenomegaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001433
14 camptodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0012385
15 hypertrichosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000998
16 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
17 hyperreflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001347
18 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
19 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
20 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
21 gingival overgrowth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000212
22 pes planus 58 30 Very rare (1%) Occasional (29-5%)
HP:0001763
23 malabsorption 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002024
24 ichthyosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008064
25 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
26 full cheeks 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000293
27 hypertriglyceridemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002155
28 hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100790
29 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
30 microcytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001935
31 bronchiectasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002110
32 lipodystrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009125
33 subcutaneous nodule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001482
34 micropenis 58 30 Very rare (1%) Occasional (29-5%)
HP:0000054
35 cleft upper lip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000204
36 azoospermia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000027
37 recurrent fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002757
38 proptosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0000520
39 paresthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003401
40 varicose veins 58 30 Very rare (1%) Occasional (29-5%)
HP:0002619
41 hallux valgus 58 30 Very rare (1%) Occasional (29-5%)
HP:0001822
42 erythema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010783
43 recurrent pharyngitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100776
44 gynecomastia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000771
45 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
46 abnormal eyebrow morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000534
47 papule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200034
48 enlarged kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000105
49 osteolysis 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002797
50 hypogonadism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Skeletal Feet:
hallux valgus
contractures of toes

Head And Neck Eyes:
episcleritis
exophthalmos
histiocytic deposits in eyelids
eyelid infiltrates
orbital mass due to histiocytosis

Skeletal Hands:
camptodactyly
clinodactyly
contractures of fingers

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Face:
submandibular lymphadenopathy

Head And Neck Mouth:
retropharyngeal lymphadenopathy

Skeletal:
intrauterine fractures of long bones and clavicles

Muscle Soft Tissue:
retroperitoneal fibrosis (rare)

Immunology:
hyperglobulinemia, polyclonal (in some patients)
lymphadenopathy, generalized (in some patients)

Abdomen Liver:
hepatomegaly

Metabolic Features:
fever

Endocrine Features:
hypergonadotropic hypogonadism
growth hormone deficiency
hypogonadotropic hypogonadism (rare)
diabetes mellitus, insulin-dependent

Head And Neck Neck:
cervical lymphadenopathy

Cardiovascular Heart:
ventricular septal defect (rare)
atrial septal defect (rare)
septal thickening (rare)
mitral valve prolapse (rare)
cardiomegaly (rare)
more
Abdomen Pancreas:
diabetes mellitus, insulin-dependent
pancreatic exocrine deficiency
pancreatomegaly (rare)
pancreatic hypoplasia, mild (rare)

Head And Neck Nose:
nasal mass due to histiocytosis

Abdomen External Features:
inguinal lymphadenopathy, bilateral, extending across suprapubic area

Skeletal Limbs:
contractures of elbows

Hematology:
nonclonal myeloproliferation

Laboratory Abnormalities:
elevated inflammatory markers

Clinical features from OMIM®:

602782 (Updated 08-Dec-2022)

UMLS symptoms related to Histiocytosis-Lymphadenopathy Plus Syndrome:


fever

GenomeRNAi Phenotypes related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.1 CD163 CD1A CD1B CD1C CD1D CD1E
2 no effect GR00402-S-2 10.1 CD1A CD1D CD1E CD68 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.7 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.7 S100B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.7 HBA1 HBA2 S100B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.7 S100B

MGI Mouse Phenotypes related to Histiocytosis-Lymphadenopathy Plus Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.36 CD163 CD1D CD68 G6PD HBA1 HBA2

Drugs & Therapeutics for Histiocytosis-Lymphadenopathy Plus Syndrome

Drugs for Histiocytosis-Lymphadenopathy Plus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
3 Antineoplastic Agents, Hormonal Phase 4
4 Hormones Phase 4
5 Hormone Antagonists Phase 4
6 glucocorticoids Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Anti-Bacterial Agents Phase 4
9 Anti-Infective Agents Phase 4
10 Antitubercular Agents Phase 4
11 Antibiotics, Antitubercular Phase 4
12
Lenalidomide Approved Phase 2 191732-72-6 216326
13
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
14
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
15 Angiogenesis Inhibitors Phase 2
16 Antiemetics Phase 2
17 Gastrointestinal Agents Phase 2
18 Immunologic Factors Phase 2
19 Vaccines
20 Heptavalent Pneumococcal Conjugate Vaccine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial to Evaluate the Long Term Prognosis in Rosai-Dorfman Disease Recruiting NCT05284942 Phase 4 Mycophenolate mofetil combined with oral prednisone
2 Lenalidomide and Dexamethasone for Rosai-Dorfman Disease: A Single Arm, Single Center, Prospective Phase 2 Study Recruiting NCT04924647 Phase 2 lenalidomide and dexamethasone
3 A Phase 2 Study to Assess the Safety and Efficacy of Cobimetinib in Refractory Langerhans Cell Histiocytosis, LCH-Associated Neurodegenerative Disease, and Other Histiocytic Disorders. Recruiting NCT04079179 Phase 2 Cobimetinib
4 Impact of Introduction of PHiD-CV (Pneumococcal Nontypeable H. Influenza Protein D-conjugate Vaccine) for Nunavik Children, Quebec, Canada Unknown status NCT01694329
5 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
6 A Clinical, Structural, and Functional Neuroimaging Study of Cognition in Adults With Erdheim-Chester Disease, Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Other Histiocytoses Active, not recruiting NCT03127709

Search NIH Clinical Center for Histiocytosis-Lymphadenopathy Plus Syndrome

Genetic Tests for Histiocytosis-Lymphadenopathy Plus Syndrome

Genetic tests related to Histiocytosis-Lymphadenopathy Plus Syndrome:

# Genetic test Affiliating Genes
1 H Syndrome 28 SLC29A3

Anatomical Context for Histiocytosis-Lymphadenopathy Plus Syndrome

Organs/tissues related to Histiocytosis-Lymphadenopathy Plus Syndrome:

MalaCards : Heart, Skin, Lymph Node, Spinal Cord, Spleen, Liver, Testes
ODiseA: Blood And Bone Marrow

Publications for Histiocytosis-Lymphadenopathy Plus Syndrome

Articles related to Histiocytosis-Lymphadenopathy Plus Syndrome:

(show top 50) (show all 3376)
# Title Authors PMID Year
1
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 62 57 5
22875837 2012
2
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. 62 57 5
22238637 2012
3
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 62 57 5
21888995 2012
4
Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. 62 57 5
22653152 2012
5
A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. 62 57 5
21178579 2011
6
Expanding the clinical spectrum of SLC29A3 gene defects. 62 57 5
20619369 2010
7
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 62 57 5
20140240 2010
8
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. 62 57 5
19889517 2010
9
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. 62 57 5
19336477 2009
10
The H syndrome is caused by mutations in the nucleoside transporter hENT3. 62 57 5
18940313 2008
11
Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. 62 57 5
16155931 2006
12
Sinus histiocytosis with massive lymphadenopathy in three brothers. 62 57 5
16118898 2005
13
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. 57 5
19175903 2009
14
Rhinoscleroma: a French national retrospective study of epidemiological and clinical features. 57 5
18947330 2008
15
Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? 57 5
17461801 2007
16
POEMS in childhood. 57 5
16650224 2006
17
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. 57 5
9545394 1998
18
H syndrome: Clinical, histological and genetic investigation in Tunisian patients. 62 5
29808591 2018
19
H syndrome: 5 new cases from the United States with novel features and responses to therapy. 62 5
29041934 2017
20
[H syndrome: First reported paediatric case in Latin America]. 62 5
27143505 2016
21
H syndrome with histological features of Langerhans cell histiocytosis. 62 5
27364927 2016
22
A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies. 62 5
27215564 2016
23
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome. 62 5
24894595 2015
24
Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome. 62 5
25963354 2015
25
Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation. 62 5
23406517 2013
26
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. 62 5
23530176 2013
27
Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease. 62 57
22356918 2012
28
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 62 5
20595384 2010
29
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. 62 57
18410979 2008
30
Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. 57
16631937 2006
31
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
32
Histiocytes and histiocytosis. 57
7524755 1994
33
PIP4KIIA and beta-globin: transcripts differentially expressed in reticulocytes and associated with high levels of Hb H in two siblings with Hb H disease. 53 62
19656170 2009
34
A laboratory strategy for genotyping haemoglobin H disease in the Chinese. 53 62
17018682 2007
35
Extranodal Rosai-Dorfman disease with multifocal bone and epidural involvement causing recurrent spinal cord compression. 53 62
16211443 2005
36
Expression of CD163 (hemoglobin scavenger receptor) in normal tissues, lymphomas, carcinomas, and sarcomas is largely restricted to the monocyte/macrophage lineage. 53 62
15832085 2005
37
CD163: a specific marker of macrophages in paraffin-embedded tissue samples. 53 62
15491976 2004
38
May 2003: 57-year-old-woman with acute loss of strength in her right upper extremity and slurred speech. 53 62
14655768 2003
39
Universal newborn screening for Hb H disease in California. 53 62
11551109 2001
40
Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. 53 62
11122156 2000
41
HB H disease with homozygosity for red cell G6PD deficiency in a Turkish female. 53 62
9576333 1998
42
Capillary isoelectric focusing of hemoglobin variants in the pediatric clinical laboratory. 53 62
9372271 1997
43
Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb). 53 62
9255612 1997
44
Cathepsin D and E co-expression in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and Langerhans' cell histiocytosis: further evidences of a phenotypic overlap between these histiocytic disorders. 53 62
8055153 1994
45
Rosai-Dorfman disease presenting as stridor and hoarseness in a young female patient. 62
36452890 2023
46
Primary Bilateral Intraosseous Rosai-Dorfman Disease. 62
36474405 2022
47
Strong Coexpression of Transcription Factors PU.1 and Oct-2 in Rosai-Dorfman Disease. 62
36239684 2022
48
Rosai-Dorfman disease mimicking gastrointestinal tuberculosis and fungal sinusitis: A case report. 62
36212757 2022
49
68Ga-FAPI and 18F-FDG PET/CT Images of a Patient With Rosai-Dorfman Disease With Liver Involvement. 62
36342795 2022
50
Sporadic extranodal Rosai-Dorfman-Destombes disease treated with tocilizumab. 62
35484989 2022

Variations for Histiocytosis-Lymphadenopathy Plus Syndrome

ClinVar genetic disease variations for Histiocytosis-Lymphadenopathy Plus Syndrome:

5 (show top 50) (show all 307)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC29A3 NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg) SNV Pathogenic
569 rs267607058 GRCh37: 10:73122283-73122283
GRCh38: 10:71362526-71362526
2 SLC29A3 NM_018344.6(SLC29A3):c.308_309del (p.Tyr102_Phe103insTer) DEL Pathogenic
30947 rs796052139 GRCh37: 10:73103972-73103973
GRCh38: 10:71344215-71344216
3 SLC29A3 NM_018344.6(SLC29A3):c.243del (p.Lys81fs) DEL Pathogenic
636986 rs1589220231 GRCh37: 10:73082752-73082752
GRCh38: 10:71322995-71322995
4 SLC29A3 NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) SNV Pathogenic
39870 rs397515429 GRCh37: 10:73122094-73122094
GRCh38: 10:71362337-71362337
5 SLC29A3 NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) SNV Pathogenic
39871 rs397514626 GRCh37: 10:73111542-73111542
GRCh38: 10:71351785-71351785
6 SLC29A3 NM_018344.6(SLC29A3):c.940del (p.Tyr314fs) DEL Pathogenic
567 rs869025177 GRCh37: 10:73121877-73121877
GRCh38: 10:71362120-71362120
7 SLC29A3 NM_018344.6(SLC29A3):c.443del (p.Val148fs) DEL Pathogenic
1390366 GRCh37: 10:73111378-73111378
GRCh38: 10:71351621-71351621
8 SLC29A3 NM_018344.6(SLC29A3):c.101_104dup (p.Leu36fs) DUP Pathogenic
1366169 GRCh37: 10:73082611-73082612
GRCh38: 10:71322854-71322855
9 SLC29A3 NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs) DEL Pathogenic
1069036 GRCh37: 10:73082779-73082785
GRCh38: 10:71323022-71323028
10 SLC29A3 NC_000010.10:g.(?_73079047)_(73079087_?)del DEL Pathogenic
1071023 GRCh37: 10:73079047-73079087
GRCh38:
11 SLC29A3 NM_018344.6(SLC29A3):c.300+2T>C SNV Pathogenic
1451137 GRCh37: 10:73082813-73082813
GRCh38: 10:71323056-71323056
12 SLC29A3 NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) SNV Pathogenic
565 rs121912584 GRCh37: 10:73122246-73122246
GRCh38: 10:71362489-71362489
13 SLC29A3 NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) SNV Pathogenic
862781 rs377762611 GRCh37: 10:73082650-73082650
GRCh38: 10:71322893-71322893
14 SLC29A3 NM_018344.6(SLC29A3):c.122del (p.Pro41fs) DEL Pathogenic
915355 rs749946303 GRCh37: 10:73082629-73082629
GRCh38: 10:71322872-71322872
15 SLC29A3 NM_018344.6(SLC29A3):c.300+1G>A SNV Pathogenic
130339 rs587780463 GRCh37: 10:73082812-73082812
GRCh38: 10:71323055-71323055
16 SLC29A3 NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) SNV Pathogenic
30949 rs387907067 GRCh37: 10:73122024-73122024
GRCh38: 10:71362267-71362267
17 SLC29A3 NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) SNV Pathogenic
563 rs121912583 GRCh37: 10:73122216-73122216
GRCh38: 10:71362459-71362459
18 SLC29A3 NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) SNV Pathogenic
30948 rs387907066 GRCh37: 10:73122025-73122025
GRCh38: 10:71362268-71362268
19 SLC29A3 NM_018344.6(SLC29A3):c.963del (p.Ile322fs) DEL Pathogenic
1354691 GRCh37: 10:73121900-73121900
GRCh38: 10:71362143-71362143
20 SLC29A3 NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) DEL Pathogenic
566 rs869025176 GRCh37: 10:73121978-73121978
GRCh38: 10:71362221-71362221
21 SLC29A3 NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) SNV Pathogenic
212200 rs746408350 GRCh37: 10:73082584-73082584
GRCh38: 10:71322827-71322827
22 SLC29A3 NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) SNV Pathogenic
573984 rs776960135 GRCh37: 10:73111414-73111414
GRCh38: 10:71351657-71351657
23 SLC29A3 NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) SNV Pathogenic
130338 rs587780462 GRCh37: 10:73122165-73122165
GRCh38: 10:71362408-71362408
24 SLC29A3 NM_018344.6(SLC29A3):c.610+1G>A SNV Likely Pathogenic
1484112 GRCh37: 10:73111546-73111546
GRCh38: 10:71351789-71351789
25 SLC29A3 NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) SNV Likely Pathogenic
963811 rs758201217 GRCh37: 10:73121908-73121908
GRCh38: 10:71362151-71362151
26 SLC29A3 NM_018344.6(SLC29A3):c.984del (p.Asn329fs) DEL Likely Pathogenic
664261 rs1415833135 GRCh37: 10:73121920-73121920
GRCh38: 10:71362163-71362163
27 SLC29A3 NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) SNV Likely Pathogenic
1180717 GRCh37: 10:73111336-73111336
GRCh38: 10:71351579-71351579
28 SLC29A3 NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys) SNV Likely Pathogenic
1693224 GRCh37: 10:73111335-73111335
GRCh38: 10:71351578-71351578
29 SLC29A3 NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) SNV Likely Pathogenic
564 rs267607056 GRCh37: 10:73122267-73122267
GRCh38: 10:71362510-71362510
30 SLC29A3 NM_018344.6(SLC29A3):c.611-1G>T SNV Likely Pathogenic
659679 rs139857136 GRCh37: 10:73115837-73115837
GRCh38: 10:71356080-71356080
31 SLC29A3 NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) SNV Conflicting Interpretations Of Pathogenicity
300365 rs566110994 GRCh37: 10:73121792-73121792
GRCh38: 10:71362035-71362035
32 SLC29A3 NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile) INVERS Conflicting Interpretations Of Pathogenicity
300363 GRCh37: 10:73115941-73115942
GRCh38: 10:71356184-71356185
33 SLC29A3 NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) SNV Conflicting Interpretations Of Pathogenicity
709157 rs147814367 GRCh37: 10:73121924-73121924
GRCh38: 10:71362167-71362167
34 SLC29A3 NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) SNV Conflicting Interpretations Of Pathogenicity
795626 rs373404056 GRCh37: 10:73122284-73122284
GRCh38: 10:71362527-71362527
35 SLC29A3 NM_018344.6(SLC29A3):c.804T>C (p.His268=) SNV Conflicting Interpretations Of Pathogenicity
750645 rs896755457 GRCh37: 10:73121741-73121741
GRCh38: 10:71361984-71361984
36 SLC29A3 NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) SNV Conflicting Interpretations Of Pathogenicity
878196 rs374417695 GRCh37: 10:73082649-73082649
GRCh38: 10:71322892-71322892
37 SLC29A3 NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) SNV Uncertain Significance
880016 rs757865136 GRCh37: 10:73115851-73115851
GRCh38: 10:71356094-71356094
38 SLC29A3 NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) DUP Uncertain Significance
934211 rs1846497179 GRCh37: 10:73103967-73103968
GRCh38: 10:71344210-71344211
39 SLC29A3 NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) SNV Uncertain Significance
937842 rs754138983 GRCh37: 10:73082570-73082570
GRCh38: 10:71322813-71322813
40 SLC29A3 NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) SNV Uncertain Significance
938915 rs368939297 GRCh37: 10:73082627-73082627
GRCh38: 10:71322870-71322870
41 SLC29A3 NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) SNV Uncertain Significance
940035 rs199619817 GRCh37: 10:73082656-73082656
GRCh38: 10:71322899-71322899
42 SLC29A3 NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) SNV Uncertain Significance
953136 rs1846771482 GRCh37: 10:73111540-73111540
GRCh38: 10:71351783-71351783
43 SLC29A3 NM_018344.6(SLC29A3):c.674A>G (p.Asp225Gly) SNV Uncertain Significance
840309 rs140852642 GRCh37: 10:73115901-73115901
GRCh38: 10:71356144-71356144
44 SLC29A3 NM_018344.6(SLC29A3):c.1135C>T (p.Leu379Phe) SNV Uncertain Significance
857418 rs762572378 GRCh37: 10:73122072-73122072
GRCh38: 10:71362315-71362315
45 SLC29A3 NM_018344.6(SLC29A3):c.872T>C (p.Ile291Thr) SNV Uncertain Significance
859278 rs763608414 GRCh37: 10:73121809-73121809
GRCh38: 10:71362052-71362052
46 SLC29A3 NM_018344.6(SLC29A3):c.650T>C (p.Leu217Ser) SNV Uncertain Significance
860380 rs1846900381 GRCh37: 10:73115877-73115877
GRCh38: 10:71356120-71356120
47 SLC29A3 NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) SNV Uncertain Significance
863259 rs150398575 GRCh37: 10:73122061-73122061
GRCh38: 10:71362304-71362304
48 SLC29A3 NM_018344.6(SLC29A3):c.163A>C (p.Ile55Leu) SNV Uncertain Significance
1383191 GRCh37: 10:73082674-73082674
GRCh38: 10:71322917-71322917
49 SLC29A3 NM_018344.6(SLC29A3):c.1406C>T (p.Thr469Ile) SNV Uncertain Significance
1368089 GRCh37: 10:73122343-73122343
GRCh38: 10:71362586-71362586
50 SLC29A3 NM_018344.6(SLC29A3):c.564C>T (p.Gly188=) SNV Uncertain Significance
1400961 GRCh37: 10:73111499-73111499
GRCh38: 10:71351742-71351742

UniProtKB/Swiss-Prot genetic disease variations for Histiocytosis-Lymphadenopathy Plus Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SLC29A3 p.Gly427Ser VAR_057884 rs121912583
2 SLC29A3 p.Gly437Arg VAR_057885 rs121912584
3 SLC29A3 p.Met116Arg VAR_067801 rs267607057
4 SLC29A3 p.Arg134Cys VAR_067802 rs1430557607
5 SLC29A3 p.Ser184Arg VAR_067804 rs1023257012
6 SLC29A3 p.Arg363Gln VAR_067806 rs387907066
7 SLC29A3 p.Arg363Trp VAR_067807 rs387907067
8 SLC29A3 p.Thr449Arg VAR_067809 rs267607058

Expression for Histiocytosis-Lymphadenopathy Plus Syndrome

Search GEO for disease gene expression data for Histiocytosis-Lymphadenopathy Plus Syndrome.

Pathways for Histiocytosis-Lymphadenopathy Plus Syndrome

GO Terms for Histiocytosis-Lymphadenopathy Plus Syndrome

Cellular components related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.4 CD1A CD1B CD1C CD1D CD1E HBA1
2 external side of plasma membrane GO:0009897 10.21 CD1E CD1D CD1C CD1B CD1A CD163
3 endosome membrane GO:0010008 10.11 CD68 CD1D CD1C CD1B CD1A
4 lysosome GO:0005764 10.02 CD1B CD1C CD1D CD1E CD68 SLC29A3
5 blood microparticle GO:0072562 9.85 HBA1 HBA2 HBB HBE1 SERPINA3
6 endocytic vesicle lumen GO:0071682 9.8 HBB HBA2 HBA1
7 endosome GO:0005768 9.8 SLC29A3 CD68 CD1E CD1D CD1C CD1B
8 hemoglobin complex GO:0005833 9.73 HBZ HBQ1 HBE1 HBB HBA2 HBA1
9 haptoglobin-hemoglobin complex GO:0031838 9.4 HBZ HBQ1 HBE1 HBB HBA2 HBA1

Biological processes related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 10.18 HBZ HBQ1 HBE1 HBB HBA2 HBA1
2 positive regulation of cell death GO:0010942 10.13 HBA1 HBA2 HBB HBE1 HBZ
3 positive regulation of T cell mediated cytotoxicity GO:0001916 10.07 CD1A CD1B CD1C CD1D CD1E
4 immune response GO:0006955 10.05 CD1E CD1D CD1C CD1B CD1A
5 hydrogen peroxide catabolic process GO:0042744 10.03 HBZ HBQ1 HBE1 HBB HBA2 HBA1
6 carbon dioxide transport GO:0015670 10.02 HBZ HBE1 HBB HBA2 HBA1
7 response to hydrogen peroxide GO:0042542 9.95 HBB HBA2 HBA1
8 nitric oxide transport GO:0030185 9.93 HBB HBA2 HBA1
9 immune system process GO:0002376 9.89 CD1E CD1D CD1C CD1B CD1A
10 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.85 CD1A CD1B CD1C CD1D CD1E
11 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.65 CD1E CD1D CD1C CD1B CD1A
12 oxygen transport GO:0015671 9.4 HBZ HBQ1 HBE1 HBB HBA2 HBA1

Molecular functions related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.23 HBZ HBQ1 HBE1 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 10.21 HBA1 HBA2 HBB HBE1 HBQ1 HBZ
3 oxygen binding GO:0019825 10.18 HBZ HBQ1 HBE1 HBB HBA2 HBA1
4 iron ion binding GO:0005506 10.08 HBZ HBQ1 HBA2 HBA1
5 lipopeptide binding GO:0071723 10.07 CD1A CD1B CD1C CD1D CD1E
6 exogenous lipid antigen binding GO:0030884 10.02 CD1E CD1D CD1C CD1B CD1A
7 endogenous lipid antigen binding GO:0030883 9.96 CD1E CD1D CD1C CD1B CD1A
8 oxygen carrier activity GO:0005344 9.93 HBA1 HBA2 HBB HBE1 HBQ1 HBZ
9 hemoglobin alpha binding GO:0031721 9.8 HBE1 HBB
10 organic acid binding GO:0043177 9.73 HBZ HBQ1 HBE1 HBB HBA2 HBA1
11 haptoglobin binding GO:0031720 9.4 HBZ HBQ1 HBE1 HBB HBA2 HBA1

Sources for Histiocytosis-Lymphadenopathy Plus Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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