MCID: HST017
MIFTS: 40

Histiocytosis-Lymphadenopathy Plus Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Ear diseases, Liver diseases

Aliases & Classifications for Histiocytosis-Lymphadenopathy Plus Syndrome

MalaCards integrated aliases for Histiocytosis-Lymphadenopathy Plus Syndrome:

Name: Histiocytosis-Lymphadenopathy Plus Syndrome 57 53 25 75 29 13 6
Histiocytosis with Joint Contractures and Sensorineural Deafness 57 53 75 73
H Syndrome 57 53 75 37
Faisalabad Histiocytosis 57 53 75
Hjcd 57 53 75
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus 57 75
Sinus Histiocytosis and Massive Lymphadenopathy 57 75
Slc29a3 Spectrum Disorder 53 25
Phid 57 75
Shml 57 75
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 75
Histiocytosis and Lymphadenopathy with or Without Cutaneous Cardiac and/or Endocrine Features Joint Contractures and/or Deafness 75
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus; Phid 57
Histiocytosis with Joint Contractures and Sensorineural Deafness; Hjcd 57
Sinus Histiocytosis and Massive Lymphadenopathy; Shml 57
Syndrome, Histiocytosis-Lymphadenopathy Plus 40
Rosai-Dorfman Disease, Familial 57
Familial Rosai-Dorfman Disease 75
Histiocytosis, Sinus 44
Slc29a3 Disorder 25
Hlas 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
very variable phenotype, with some patients having many features and others only a few


HPO:

32
histiocytosis-lymphadenopathy plus syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Histiocytosis-Lymphadenopathy Plus Syndrome

NIH Rare Diseases : 53 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 systemcells 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 mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual.   

MalaCards based summary : Histiocytosis-Lymphadenopathy Plus Syndrome, also known as histiocytosis with joint contractures and sensorineural deafness, is related to bare lymphocyte syndrome, type ii and anti-hla hyperimmunization, and has symptoms including fever An important gene associated with Histiocytosis-Lymphadenopathy Plus Syndrome is SLC29A3 (Solute Carrier Family 29 Member 3). Affiliated tissues include heart, lymph node and liver, and related phenotypes are clinodactyly and hydrocephalus

Genetics Home Reference : 25 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 (also known as sinus histiocytosis with massive lymphadenopathy or SHML). 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.

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)

UniProtKB/Swiss-Prot : 75 Histiocytosis-lymphadenopathy plus syndrome: 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.

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 all 43)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type ii 12.1
2 anti-hla hyperimmunization 11.9
3 hla modifier 11.9
4 t-cell subgroups, non-hla-linked 11.9
5 immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes 11.9
6 immunodeficiency by defective expression of hla class 1 11.9
7 bare lymphocyte syndrome, type i 11.9
8 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.6
9 graft-versus-host disease 11.5
10 celiac disease 1 11.2
11 severe cutaneous adverse reaction 11.2
12 diabetes mellitus, ketosis-prone 11.1
13 childhood-onset cerebral x-linked adrenoleukodystrophy 11.0
14 behcet syndrome 10.8
15 narcolepsy 1 10.8
16 goodpasture syndrome 10.8
17 adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 10.8
18 autoimmune polyglandular syndrome type 3 10.8
19 epilepsy occipital calcifications 10.8
20 systemic onset juvenile idiopathic arthritis 10.8
21 rheumatoid arthritis 10.8
22 dysosteosclerosis 10.8
23 vacterl association with hydrocephaly, x-linked 10.8
24 arthritis 10.4
25 alzheimer disease 10.4
26 influenza 10.4
27 haemophilus influenzae 10.4
28 leukemia 10.4
29 hepatitis 10.3
30 multiple sclerosis 10.3
31 melanoma 10.3
32 otitis media 10.0
33 diabetes mellitus 9.8
34 histiocytosis 9.5
35 rosai-dorfman disease 9.5
36 muckle-wells syndrome 9.4
37 alopecia universalis congenita 9.4
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.4
39 alopecia 9.4
40 sensorineural hearing loss 9.4
41 hypertrichosis 9.4
42 retroperitoneal fibrosis 9.4
43 wells syndrome 9.4

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
camptodactyly
contractures of fingers

Abdomen Liver:
hepatomegaly

Metabolic Features:
fever

Skeletal Feet:
hallux valgus
contractures of toes

Head And Neck Ears:
hearing loss, sensorineural

Abdomen Pancreas:
diabetes mellitus, insulin-dependent
pancreatic exocrine deficiency
pancreatomegaly (rare)
pancreatic hypoplasia, mild (rare)

Head And Neck Nose:
nasal mass due to histiocytosis

Head And Neck Neck:
cervical 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)

AbdomenSpleen:
splenomegaly

Growth Height:
short stature

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

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

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)
septal thickening (rare)
mitral valve prolapse (rare)
cardiomegaly (rare)
more
Head And Neck Face:
submandibular lymphadenopathy

Head And Neck Mouth:
retropharyngeal lymphadenopathy

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

Human phenotypes related to Histiocytosis-Lymphadenopathy Plus Syndrome:

32 (show top 50) (show all 65)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 hydrocephalus 32 occasional (7.5%) HP:0000238
3 diabetes mellitus 32 occasional (7.5%) HP:0000819
4 hyperreflexia 32 occasional (7.5%) HP:0001347
5 gingival overgrowth 32 occasional (7.5%) HP:0000212
6 hearing impairment 32 frequent (33%) HP:0000365
7 splenomegaly 32 HP:0001744
8 hepatomegaly 32 HP:0002240
9 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
10 pes planus 32 occasional (7.5%) HP:0001763
11 malabsorption 32 occasional (7.5%) HP:0002024
12 sensorineural hearing impairment 32 HP:0000407
13 short stature 32 frequent (33%) HP:0004322
14 ichthyosis 32 occasional (7.5%) HP:0008064
15 delayed puberty 32 hallmark (90%) HP:0000823
16 intellectual disability, mild 32 occasional (7.5%) HP:0001256
17 fever 32 HP:0001945
18 cardiomegaly 32 occasional (7.5%) HP:0001640
19 full cheeks 32 occasional (7.5%) HP:0000293
20 hypertriglyceridemia 32 occasional (7.5%) HP:0002155
21 hernia 32 occasional (7.5%) HP:0100790
22 alopecia 32 occasional (7.5%) HP:0001596
23 atrial septal defect 32 occasional (7.5%) HP:0001631
24 microcytic anemia 32 occasional (7.5%) HP:0001935
25 hypogonadism 32 occasional (7.5%) HP:0000135
26 hypergonadotropic hypogonadism 32 HP:0000815
27 decreased testicular size 32 hallmark (90%) HP:0008734
28 mitral valve prolapse 32 occasional (7.5%) HP:0001634
29 ventricular septal defect 32 occasional (7.5%) HP:0001629
30 varicose veins 32 occasional (7.5%) HP:0002619
31 azoospermia 32 occasional (7.5%) HP:0000027
32 recurrent fractures 32 occasional (7.5%) HP:0002757
33 recurrent pharyngitis 32 occasional (7.5%) HP:0100776
34 hallux valgus 32 occasional (7.5%) HP:0001822
35 gynecomastia 32 occasional (7.5%) HP:0000771
36 proptosis 32 occasional (7.5%) HP:0000520
37 osteolysis 32 occasional (7.5%) HP:0002797
38 cleft upper lip 32 occasional (7.5%) HP:0000204
39 abnormality of cardiovascular system physiology 32 occasional (7.5%) HP:0011025
40 lymphadenopathy 32 frequent (33%) HP:0002716
41 enlarged kidney 32 occasional (7.5%) HP:0000105
42 bronchiectasis 32 occasional (7.5%) HP:0002110
43 micropenis 32 occasional (7.5%) HP:0000054
44 episcleritis 32 HP:0100534
45 hepatosplenomegaly 32 frequent (33%) HP:0001433
46 hyperpigmentation of the skin 32 hallmark (90%) HP:0000953
47 lipodystrophy 32 occasional (7.5%) HP:0009125
48 histiocytosis 32 hallmark (90%) HP:0100727
49 episodic fever 32 occasional (7.5%) HP:0001954
50 camptodactyly 32 frequent (33%) HP:0012385

UMLS symptoms related to Histiocytosis-Lymphadenopathy Plus Syndrome:


fever

Drugs & Therapeutics for Histiocytosis-Lymphadenopathy Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Histiocytosis-Lymphadenopathy Plus Syndrome

Cochrane evidence based reviews: histiocytosis, sinus

Genetic Tests for Histiocytosis-Lymphadenopathy Plus Syndrome

Genetic tests related to Histiocytosis-Lymphadenopathy Plus Syndrome:

# Genetic test Affiliating Genes
1 Histiocytosis-Lymphadenopathy Plus Syndrome 29 SLC29A3

Anatomical Context for Histiocytosis-Lymphadenopathy Plus Syndrome

MalaCards organs/tissues related to Histiocytosis-Lymphadenopathy Plus Syndrome:

41
Heart, Lymph Node, Liver, Spleen, Skin, Kidney, Testes

Publications for Histiocytosis-Lymphadenopathy Plus Syndrome

Articles related to Histiocytosis-Lymphadenopathy Plus Syndrome:

(show all 22)
# Title Authors Year
1
Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene. ( 28554179 )
2017
2
Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report. ( 27316388 )
2016
3
Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome. ( 25963354 )
2015
4
Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene. ( 26074390 )
2015
5
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome. ( 24894595 )
2015
6
H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis. ( 26015165 )
2015
7
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency. ( 24909877 )
2014
8
SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis. ( 23623699 )
2013
9
Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation. ( 23406517 )
2013
10
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. ( 22989030 )
2013
11
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. ( 22653152 )
2012
12
Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome. ( 23058913 )
2012
13
Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease. ( 22356918 )
2012
14
A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. ( 21178579 )
2011
15
Early-onset sensorineural hearing loss is a prominent feature of H syndrome. ( 20399510 )
2010
16
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. ( 19889517 )
2010
17
H syndrome: novel and recurrent mutations in SLC29A3. ( 20199539 )
2010
18
H syndrome and Muckle-Wells syndrome. ( 19615552 )
2009
19
The H syndrome is caused by mutations in the nucleoside transporter hENT3. ( 18940313 )
2008
20
An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome. ( 12213673 )
2002
21
Peripheral haemolysis, lipid peroxidation, iron status, and vitamin E in haemoglobin H syndromes in West Malaysia. ( 8266182 )
1993
22
[H-H-H syndrome: a rare disease also relevant in anesthesiology]. ( 3812931 )
1986

Variations for Histiocytosis-Lymphadenopathy Plus Syndrome

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

75
# 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
5 SLC29A3 p.Ser184Arg VAR_067804 rs1023257012Histiocytosis-lymphadenopathy
6 SLC29A3 p.Arg363Gln VAR_067806 rs387907066
7 SLC29A3 p.Arg363Trp VAR_067807 rs387907067
8 SLC29A3 p.Thr449Arg VAR_067809 rs267607058

ClinVar genetic disease variations for Histiocytosis-Lymphadenopathy Plus Syndrome:

6
(show top 50) (show all 120)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC29A3 NM_018344.5(SLC29A3): c.1279G> A (p.Gly427Ser) single nucleotide variant Pathogenic rs121912583 GRCh37 Chromosome 10, 73122216: 73122216
2 SLC29A3 NM_018344.5(SLC29A3): c.1279G> A (p.Gly427Ser) single nucleotide variant Pathogenic rs121912583 GRCh38 Chromosome 10, 71362459: 71362459
3 SLC29A3 NM_018344.5(SLC29A3): c.1330G> T (p.Glu444Ter) single nucleotide variant Pathogenic rs267607056 GRCh37 Chromosome 10, 73122267: 73122267
4 SLC29A3 NM_018344.5(SLC29A3): c.1330G> T (p.Glu444Ter) single nucleotide variant Pathogenic rs267607056 GRCh38 Chromosome 10, 71362510: 71362510
5 SLC29A3 NM_018344.5(SLC29A3): c.1309G> A (p.Gly437Arg) single nucleotide variant Pathogenic rs121912584 GRCh37 Chromosome 10, 73122246: 73122246
6 SLC29A3 NM_018344.5(SLC29A3): c.1309G> A (p.Gly437Arg) single nucleotide variant Pathogenic rs121912584 GRCh38 Chromosome 10, 71362489: 71362489
7 SLC29A3 NM_018344.5(SLC29A3): c.1045delC (p.Leu349Serfs) deletion Pathogenic rs869025176 GRCh37 Chromosome 10, 73121982: 73121982
8 SLC29A3 NM_018344.5(SLC29A3): c.1045delC (p.Leu349Serfs) deletion Pathogenic rs869025176 GRCh38 Chromosome 10, 71362225: 71362225
9 SLC29A3 NM_018344.5(SLC29A3): c.940delT (p.Tyr314Thrfs) deletion Pathogenic rs869025177 GRCh37 Chromosome 10, 73121877: 73121877
10 SLC29A3 NM_018344.5(SLC29A3): c.940delT (p.Tyr314Thrfs) deletion Pathogenic rs869025177 GRCh38 Chromosome 10, 71362120: 71362120
11 SLC29A3 NM_018344.5(SLC29A3): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs267607057 GRCh37 Chromosome 10, 73104012: 73104012
12 SLC29A3 NM_018344.5(SLC29A3): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs267607057 GRCh38 Chromosome 10, 71344255: 71344255
13 SLC29A3 NM_018344.5(SLC29A3): c.1346C> G (p.Thr449Arg) single nucleotide variant Pathogenic rs267607058 GRCh37 Chromosome 10, 73122283: 73122283
14 SLC29A3 NM_018344.5(SLC29A3): c.1346C> G (p.Thr449Arg) single nucleotide variant Pathogenic rs267607058 GRCh38 Chromosome 10, 71362526: 71362526
15 SLC29A3 SLC29A3, IVS2, G-A, +1 single nucleotide variant Pathogenic
16 SLC29A3 NM_018344.5(SLC29A3): c.308_309delTT (p.Phe103Terfs) deletion Pathogenic rs796052139 GRCh38 Chromosome 10, 71344216: 71344217
17 SLC29A3 NM_018344.5(SLC29A3): c.308_309delTT (p.Phe103Terfs) deletion Pathogenic rs796052139 GRCh37 Chromosome 10, 73103973: 73103974
18 SLC29A3 NM_018344.5(SLC29A3): c.1088G> A (p.Arg363Gln) single nucleotide variant Pathogenic rs387907066 GRCh37 Chromosome 10, 73122025: 73122025
19 SLC29A3 NM_018344.5(SLC29A3): c.1088G> A (p.Arg363Gln) single nucleotide variant Pathogenic rs387907066 GRCh38 Chromosome 10, 71362268: 71362268
20 SLC29A3 SLC29A3, 1-BP DEL, 243A deletion Pathogenic
21 SLC29A3 NM_018344.5(SLC29A3): c.1157G> A (p.Arg386Gln) single nucleotide variant Pathogenic rs397515429 GRCh37 Chromosome 10, 73122094: 73122094
22 SLC29A3 NM_018344.5(SLC29A3): c.1157G> A (p.Arg386Gln) single nucleotide variant Pathogenic rs397515429 GRCh38 Chromosome 10, 71362337: 71362337
23 SLC29A3 NM_018344.5(SLC29A3): c.607T> C (p.Ser203Pro) single nucleotide variant Pathogenic rs397514626 GRCh37 Chromosome 10, 73111542: 73111542
24 SLC29A3 NM_018344.5(SLC29A3): c.607T> C (p.Ser203Pro) single nucleotide variant Pathogenic rs397514626 GRCh38 Chromosome 10, 71351785: 71351785
25 SLC29A3 NM_018344.5(SLC29A3): c.1228C> T (p.Gln410Ter) single nucleotide variant Pathogenic rs587780462 GRCh37 Chromosome 10, 73122165: 73122165
26 SLC29A3 NM_018344.5(SLC29A3): c.1228C> T (p.Gln410Ter) single nucleotide variant Pathogenic rs587780462 GRCh38 Chromosome 10, 71362408: 71362408
27 SLC29A3 NM_018344.5(SLC29A3): c.300+1G> A single nucleotide variant Pathogenic rs587780463 GRCh37 Chromosome 10, 73082812: 73082812
28 SLC29A3 NM_018344.5(SLC29A3): c.300+1G> A single nucleotide variant Pathogenic rs587780463 GRCh38 Chromosome 10, 71323055: 71323055
29 SLC29A3 NM_018344.5(SLC29A3): c.1146C> T (p.Phe382=) single nucleotide variant Conflicting interpretations of pathogenicity rs148092033 GRCh37 Chromosome 10, 73122083: 73122083
30 SLC29A3 NM_018344.5(SLC29A3): c.1146C> T (p.Phe382=) single nucleotide variant Conflicting interpretations of pathogenicity rs148092033 GRCh38 Chromosome 10, 71362326: 71362326
31 SLC29A3 NM_018344.5(SLC29A3): c.73C> T (p.Arg25Ter) single nucleotide variant Pathogenic rs746408350 GRCh37 Chromosome 10, 73082584: 73082584
32 SLC29A3 NM_018344.5(SLC29A3): c.73C> T (p.Arg25Ter) single nucleotide variant Pathogenic rs746408350 GRCh38 Chromosome 10, 71322827: 71322827
33 SLC29A3 NM_018344.5(SLC29A3): c.128T> G (p.Leu43Arg) single nucleotide variant Likely benign rs146764905 GRCh37 Chromosome 10, 73082639: 73082639
34 SLC29A3 NM_018344.5(SLC29A3): c.128T> G (p.Leu43Arg) single nucleotide variant Likely benign rs146764905 GRCh38 Chromosome 10, 71322882: 71322882
35 SLC29A3 NM_018344.5(SLC29A3): c.-31G> C single nucleotide variant Uncertain significance rs886047116 GRCh37 Chromosome 10, 73079036: 73079036
36 SLC29A3 NM_018344.5(SLC29A3): c.-31G> C single nucleotide variant Uncertain significance rs886047116 GRCh38 Chromosome 10, 71319279: 71319279
37 SLC29A3 NM_018344.5(SLC29A3): c.-23C> T single nucleotide variant Uncertain significance rs771479944 GRCh37 Chromosome 10, 73079044: 73079044
38 SLC29A3 NM_018344.5(SLC29A3): c.-23C> T single nucleotide variant Uncertain significance rs771479944 GRCh38 Chromosome 10, 71319287: 71319287
39 SLC29A3 NM_018344.5(SLC29A3): c.488G> T (p.Gly163Val) single nucleotide variant Benign/Likely benign rs143557881 GRCh37 Chromosome 10, 73111423: 73111423
40 SLC29A3 NM_018344.5(SLC29A3): c.488G> T (p.Gly163Val) single nucleotide variant Benign/Likely benign rs143557881 GRCh38 Chromosome 10, 71351666: 71351666
41 SLC29A3 NM_018344.5(SLC29A3): c.1201C> T (p.Arg401Cys) single nucleotide variant Uncertain significance rs746998307 GRCh37 Chromosome 10, 73122138: 73122138
42 SLC29A3 NM_018344.5(SLC29A3): c.1201C> T (p.Arg401Cys) single nucleotide variant Uncertain significance rs746998307 GRCh38 Chromosome 10, 71362381: 71362381
43 SLC29A3 NM_018344.5(SLC29A3): c.*485G> A single nucleotide variant Uncertain significance rs886047118 GRCh37 Chromosome 10, 73122850: 73122850
44 SLC29A3 NM_018344.5(SLC29A3): c.*485G> A single nucleotide variant Uncertain significance rs886047118 GRCh38 Chromosome 10, 71363093: 71363093
45 SLC29A3 NM_018344.5(SLC29A3): c.*557A> C single nucleotide variant Uncertain significance rs886047119 GRCh37 Chromosome 10, 73122922: 73122922
46 SLC29A3 NM_018344.5(SLC29A3): c.*557A> C single nucleotide variant Uncertain significance rs886047119 GRCh38 Chromosome 10, 71363165: 71363165
47 SLC29A3 NM_018344.5(SLC29A3): c.498G> C (p.Ala166=) single nucleotide variant Benign/Likely benign rs150879861 GRCh37 Chromosome 10, 73111433: 73111433
48 SLC29A3 NM_018344.5(SLC29A3): c.498G> C (p.Ala166=) single nucleotide variant Benign/Likely benign rs150879861 GRCh38 Chromosome 10, 71351676: 71351676
49 SLC29A3 NM_018344.5(SLC29A3): c.797C> T (p.Ala266Val) single nucleotide variant Uncertain significance rs142991278 GRCh37 Chromosome 10, 73121734: 73121734
50 SLC29A3 NM_018344.5(SLC29A3): c.797C> T (p.Ala266Val) single nucleotide variant Uncertain significance rs142991278 GRCh38 Chromosome 10, 71361977: 71361977

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

Sources for Histiocytosis-Lymphadenopathy Plus Syndrome

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