HMS
MCID: HMM002
MIFTS: 35

Haim-Munk Syndrome (HMS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Haim-Munk Syndrome

MalaCards integrated aliases for Haim-Munk Syndrome:

Name: Haim-Munk Syndrome 57 20 58 72 36 29 13 54 6 39 70
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 57 20 72
Cochin Jewish Disorder 57 20 72
Hms 57 20 72
Palmoplantar Hyperkeratosis-Periodontopathia-Onychogryposis Syndrome 58
Keratosis Palmoplantaris-Periodontopathia-Onychogryposis Syndrome 58
Palmoplantar Keratoderma-Periodontopathia-Onychogryposis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
haim-munk syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
all cases occur in a jewish religious isolate originally from cochin, india
allelic to papillon-lefevre syndrome and juvenile periodontitis
skin manifestations are more severe and of later onset than papillon-lefevre syndrome
periodontium is less severely affected than in papillon-lefevre syndrome


HPO:

31
haim-munk syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 245010
KEGG 36 H00696
MeSH 44 D007645
MESH via Orphanet 45 C537627
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C1855627
Orphanet 58 ORPHA2342
MedGen 41 C1855627
UMLS 70 C1855627

Summaries for Haim-Munk Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2342 Definition Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Epidemiology HMS is rare with less than 100 cases reported in the literature so far. The majority of reported cases are descendants of a few consanguineous families from a religious isolate in Cochin, India. One unrelated Brazilian patient has also been reported. Clinical description HMS presents with severe and extensive skin manifestations. In addition to the marked palmoplantar keratosis, patients have scaly erythematous and circumscribed patches on the elbows, knees, forearms, shins and dorsum of the hands. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish HMS from other forms of palmoplantar hyperkeratosis. A peculiar deformity of the fingers (tapered, pointed phalangeal ends and a claw-like volar curve) is typical. Destructive arthritis of the wrist and shoulder joints has been reported in isolated cases. Patients with HMS have increased susceptibility to infections. Etiology HMS is caused by germline mutations in the lysosomal protease cathepsin C ( CTSC ) gene mapped to chromosome 11q14.1-q14.3. Mutations in the same gene cause the clinically related disorders Papillon-Lefevre syndrome (PLS) and prepubertal periodontitis (see these terms). Diagnostic methods Diagnosis is clinical but can be confirmed by detection of the disease-causing mutation. Differential diagnosis Differential diagnosis includes the allelic disorder PLS and disorders with palmoplantar hyperkeratosis and prepubertal periodontitis. Genetic counseling HMS is transmitted as an autosomal recessive trait. Management and treatment Management of the skin manifestations requires topical emollients, keratolytics (including salicylic acid and urea) and oral retinoids (acitretin, etretinate, and isotretinoin). Periodontitis in HMC is usually unresponsive to traditional periodontal therapies. Patients may benefit from extraction of the primary teeth combined with oral antibiotics and professional tooth cleaning. Synovectomy has been shown to alleviate the inflammation associated with destructive arthritis but may lead to loss in the range of the joint motion.

MalaCards based summary : Haim-Munk Syndrome, also known as keratosis palmoplantaris with periodontopathia and onychogryposis, is related to papillon-lefevre syndrome and periodontitis. An important gene associated with Haim-Munk Syndrome is CTSC (Cathepsin C), and among its related pathways/superpathways is Lysosome. Affiliated tissues include skin and bone, and related phenotypes are pes planus and arachnodactyly

OMIM® : 57 Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000). (245010) (Updated 20-May-2021)

KEGG : 36 Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly, nail dysplasia, pes planus, and acroosteolysis. Mutations in cathepsin C gene cause this disease.

UniProtKB/Swiss-Prot : 72 Haim-Munk syndrome: An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis.

Wikipedia : 73 Haim-Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and... more...

Related Diseases for Haim-Munk Syndrome

Diseases related to Haim-Munk Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 papillon-lefevre syndrome 11.4
2 periodontitis 10.7
3 keratosis 10.6
4 acroosteolysis 10.6
5 autosomal recessive disease 10.5
6 periodontitis, aggressive, 1 10.4
7 aggressive periodontitis 10.4
8 palmoplantar keratosis 10.4
9 plague 10.3
10 splenomegaly 10.3
11 bubonic plague 10.1
12 inguinal hernia 10.0
13 hemolytic anemia 10.0
14 tremor 10.0
15 motion sickness 9.9
16 malaria 9.9
17 brucellosis 9.9
18 diphtheria 9.9
19 plasmodium vivax malaria 9.9
20 dementia 9.9
21 typhoid fever 9.9
22 hypermobility syndrome 9.9
23 benign mesothelioma 9.9
24 congenital hemolytic anemia 9.9
25 hypersplenism 9.9
26 meningitis 9.9
27 hypermobile ehlers-danlos syndrome 9.9
28 sickle cell disease 9.9
29 thalassemia 9.9
30 chronic pain 9.9

Graphical network of the top 20 diseases related to Haim-Munk Syndrome:



Diseases related to Haim-Munk Syndrome

Symptoms & Phenotypes for Haim-Munk Syndrome

Human phenotypes related to Haim-Munk Syndrome:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pes planus 31 HP:0001763
2 arachnodactyly 31 HP:0001166
3 recurrent bacterial skin infections 31 HP:0005406
4 onychogryposis 31 HP:0001805
5 severe periodontitis 31 HP:0000166
6 osteolytic defects of the phalanges of the hand 31 HP:0009771
7 tapering pointed ends of distal finger phalanges 31 HP:0006224
8 congenital palmoplantar keratosis 31 HP:0007545

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes planus

Skin Nails Hair Nails:
onychogryposis

Head And Neck Teeth:
severe, early-onset periodontitis
alveolar bone destruction
premature tooth

Skeletal Hands:
arachnodactyly
acroosteolysis
tapered, pointed distal phalanges
claw-like volar curve

Skin Nails Hair Skin:
congenital palmoplantar keratosis
recurrent pyogenic skin infections

Clinical features from OMIM®:

245010 (Updated 20-May-2021)

Drugs & Therapeutics for Haim-Munk Syndrome

Search Clinical Trials , NIH Clinical Center for Haim-Munk Syndrome

Genetic Tests for Haim-Munk Syndrome

Genetic tests related to Haim-Munk Syndrome:

# Genetic test Affiliating Genes
1 Haim-Munk Syndrome 29 CTSC

Anatomical Context for Haim-Munk Syndrome

MalaCards organs/tissues related to Haim-Munk Syndrome:

40
Skin, Bone

Publications for Haim-Munk Syndrome

Articles related to Haim-Munk Syndrome:

(show all 32)
# Title Authors PMID Year
1
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. 54 6 57 61
10662807 2000
2
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 6
29410039 2018
3
[Papillon-Lefèvre syndrome: A new case]. 6
28242153 2017
4
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. 6
23311634 2013
5
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 6
12112662 2002
6
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 6
11886537 2001
7
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 6
11180012 2001
8
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 6
10581027 1999
9
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 6
10593994 1999
10
Quantification of glial fibrillary acidic protein: comparison of slot-immunobinding assays with a novel sandwich ELISA. 6
1886537 1991
11
A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. 57
2943312 1986
12
A genetic analysis of the Papillon-Lefèvre syndrome in a Jewish family from Cochin. 57
162525 1978
13
Seven cases of Papillon Lefèvre Syndrome. 57
5225739 1967
14
KERATOSIS PALMO-PLANTARIS CONGENITA, WITH PERIODONTOSIS, ARACHNODACTYLY AND A PECULIAR DEFORMITY OF THE TERMINAL PHALANGES. 57
14252683 1965
15
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. 61 54
15727652 2005
16
Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes. 61
31925812 2020
17
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. 61
31846207 2020
18
Processing and Maturation of Cathepsin C Zymogen: A Biochemical and Molecular Modeling Analysis. 61
31557781 2019
19
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis. 61
31068678 2019
20
Papillon-Lefèvre or Haim-Munk Syndrome? Report on Two Sisters in a Consanguineous Family. 61
32689746 2015
21
Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome. 61
24966751 2014
22
Salim Haim and the syndrome that bears his name. 61
21906495 2011
23
Haim Munk syndrome: report of two siblings of northern India treated with acitretin. 61
21393975 2011
24
Haim-Munk syndrome. 61
21760678 2010
25
Periodontal manifestations in a patient with haim-munk syndrome. 61
20613925 2010
26
Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype. 61
20534088 2010
27
Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings. 61
18222334 2008
28
Destructive arthritis in a patient with Haim-munk syndrome. 61
15088315 2004
29
Cysteine proteases as disease markers. 61
15026265 2004
30
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. 61
12207605 2002
31
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. 61
11180601 2001
32
Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. 61
9085215 1997

Variations for Haim-Munk Syndrome

ClinVar genetic disease variations for Haim-Munk Syndrome:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSC NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) SNV Pathogenic 7294 rs104894208 GRCh37: 11:88029333-88029333
GRCh38: 11:88296165-88296165
2 CTSC NM_001814.6(CTSC):c.628C>T (p.Arg210Ter) SNV Pathogenic 7289 GRCh37: 11:88042344-88042344
GRCh38: 11:88309176-88309176
3 CTSC NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) SNV Pathogenic 839668 GRCh37: 11:88068220-88068220
GRCh38: 11:88335052-88335052
4 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV Pathogenic 139655 GRCh37: 11:88070745-88070745
GRCh38: 11:88337577-88337577
5 CTSC NM_001814.6(CTSC):c.1096del (p.His366fs) Deletion Pathogenic 935708 GRCh37: 11:88027470-88027470
GRCh38: 11:88294302-88294302
6 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV Pathogenic 7297 GRCh37: 11:88027665-88027665
GRCh38: 11:88294497-88294497
7 CTSC NM_001814.6(CTSC):c.855dup (p.Gln286fs) Duplication Likely pathogenic 575092 GRCh37: 11:88029334-88029335
GRCh38: 11:88296166-88296167
8 CTSC NM_001814.6(CTSC):c.790A>C (p.Met264Leu) SNV Uncertain significance 575218 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
9 CTSC NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys) SNV Uncertain significance 640536 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
10 CTSC NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys) SNV Uncertain significance 643044 GRCh37: 11:88027263-88027263
GRCh38: 11:88294095-88294095
11 CTSC NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) SNV Uncertain significance 646118 GRCh37: 11:88045646-88045646
GRCh38: 11:88312478-88312478
12 CTSC NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) SNV Uncertain significance 647363 GRCh37: 11:88027365-88027365
GRCh38: 11:88294197-88294197
13 CTSC NM_001814.6(CTSC):c.790A>G (p.Met264Val) SNV Uncertain significance 647418 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
14 CTSC NM_001814.6(CTSC):c.1325G>A (p.Arg442His) SNV Uncertain significance 647623 GRCh37: 11:88027241-88027241
GRCh38: 11:88294073-88294073
15 CTSC NM_001814.6(CTSC):c.259A>G (p.Ile87Val) SNV Uncertain significance 548698 rs45447392 GRCh37: 11:88068164-88068164
GRCh38: 11:88334996-88334996
16 CTSC NM_001814.6(CTSC):c.364A>G (p.Met122Val) SNV Uncertain significance 648150 GRCh37: 11:88045677-88045677
GRCh38: 11:88312509-88312509
17 CTSC NM_001814.6(CTSC):c.308C>T (p.Ala103Val) SNV Uncertain significance 650523 GRCh37: 11:88068115-88068115
GRCh38: 11:88334947-88334947
18 CTSC NM_001814.6(CTSC):c.1392G>A (p.Ter464=) SNV Uncertain significance 650803 GRCh37: 11:88027174-88027174
GRCh38: 11:88294006-88294006
19 CTSC NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn) SNV Uncertain significance 651983 GRCh37: 11:88027656-88027656
GRCh38: 11:88294488-88294488
20 CTSC NM_001814.6(CTSC):c.757+5A>G SNV Uncertain significance 652502 GRCh37: 11:88033693-88033693
GRCh38: 11:88300525-88300525
21 CTSC NM_001814.6(CTSC):c.953A>G (p.Glu318Gly) SNV Uncertain significance 652504 GRCh37: 11:88027613-88027613
GRCh38: 11:88294445-88294445
22 CTSC NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr) SNV Uncertain significance 654717 GRCh37: 11:88027221-88027221
GRCh38: 11:88294053-88294053
23 CTSC NM_001814.6(CTSC):c.37C>A (p.Leu13Met) SNV Uncertain significance 659313 GRCh37: 11:88070804-88070804
GRCh38: 11:88337636-88337636
24 CTSC NM_001814.6(CTSC):c.923G>A (p.Gly308Glu) SNV Uncertain significance 665835 GRCh37: 11:88027643-88027643
GRCh38: 11:88294475-88294475
25 CTSC NM_001814.6(CTSC):c.173-6del Deletion Uncertain significance 306430 rs372892181 GRCh37: 11:88068256-88068256
GRCh38: 11:88335088-88335088
26 CTSC NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) SNV Uncertain significance 306428 rs763656343 GRCh37: 11:88042463-88042463
GRCh38: 11:88309295-88309295
27 CTSC NM_001814.6(CTSC):c.954A>G (p.Glu318=) SNV Uncertain significance 306421 rs886048739 GRCh37: 11:88027612-88027612
GRCh38: 11:88294444-88294444
28 CTSC NM_001814.6(CTSC):c.729C>T (p.Ile243=) SNV Uncertain significance 306426 rs766063253 GRCh37: 11:88033726-88033726
GRCh38: 11:88300558-88300558
29 CTSC NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) SNV Uncertain significance 306417 rs143736590 GRCh37: 11:88027252-88027252
GRCh38: 11:88294084-88294084
30 CTSC NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) SNV Uncertain significance 306418 rs201519830 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
31 CTSC NM_001814.6(CTSC):c.948G>C (p.Leu316=) SNV Uncertain significance 306422 rs145373075 GRCh37: 11:88027618-88027618
GRCh38: 11:88294450-88294450
32 CTSC NM_001814.6(CTSC):c.-48G>A SNV Uncertain significance 306437 rs200415443 GRCh37: 11:88070888-88070888
GRCh38: 11:88337720-88337720
33 CTSC NM_001814.6(CTSC):c.-23C>G SNV Uncertain significance 306435 rs886048743 GRCh37: 11:88070863-88070863
GRCh38: 11:88337695-88337695
34 CTSC NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) SNV Uncertain significance 306420 rs886048738 GRCh37: 11:88027443-88027443
GRCh38: 11:88294275-88294275
35 CTSC NM_001814.6(CTSC):c.-7C>A SNV Uncertain significance 306434 rs770352776 GRCh37: 11:88070847-88070847
GRCh38: 11:88337679-88337679
36 CTSC NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) SNV Uncertain significance 306423 rs748729285 GRCh37: 11:88029318-88029318
GRCh38: 11:88296150-88296150
37 CTSC NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) SNV Uncertain significance 306429 rs142378484 GRCh37: 11:88068160-88068160
GRCh38: 11:88334992-88334992
38 CTSC NM_001814.6(CTSC):c.338A>G (p.Lys113Arg) SNV Uncertain significance 849347 GRCh37: 11:88045703-88045703
GRCh38: 11:88312535-88312535
39 CTSC NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr) SNV Uncertain significance 851663 GRCh37: 11:88027673-88027673
GRCh38: 11:88294505-88294505
40 CTSC NM_001814.6(CTSC):c.1346C>T (p.Ala449Val) SNV Uncertain significance 851940 GRCh37: 11:88027220-88027220
GRCh38: 11:88294052-88294052
41 CTSC NM_001814.6(CTSC):c.907C>T (p.Pro303Ser) SNV Uncertain significance 853063 GRCh37: 11:88027659-88027659
GRCh38: 11:88294491-88294491
42 CTSC NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) SNV Uncertain significance 306418 rs201519830 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
43 CTSC NM_001814.6(CTSC):c.358G>A (p.Glu120Lys) SNV Uncertain significance 856793 GRCh37: 11:88045683-88045683
GRCh38: 11:88312515-88312515
44 CTSC NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) SNV Uncertain significance 880809 GRCh37: 11:88027242-88027242
GRCh38: 11:88294074-88294074
45 CTSC NC_000011.10:g.(?_88293986)_(88337727_?)dup Duplication Uncertain significance 830637 GRCh37: 11:88027154-88070895
GRCh38:
46 CTSC NM_001814.6(CTSC):c.1169A>G (p.His390Arg) SNV Uncertain significance 834209 GRCh37: 11:88027397-88027397
GRCh38: 11:88294229-88294229
47 CTSC NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser) SNV Uncertain significance 836452 GRCh37: 11:88027272-88027272
GRCh38: 11:88294104-88294104
48 CTSC NM_001814.6(CTSC):c.908C>T (p.Pro303Leu) SNV Uncertain significance 837698 GRCh37: 11:88027658-88027658
GRCh38: 11:88294490-88294490
49 CTSC NM_001814.6(CTSC):c.29C>T (p.Ala10Val) SNV Uncertain significance 306432 rs765499436 GRCh37: 11:88070812-88070812
GRCh38: 11:88337644-88337644
50 CTSC NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) SNV Uncertain significance 306424 rs886048740 GRCh37: 11:88029340-88029340
GRCh38: 11:88296172-88296172

UniProtKB/Swiss-Prot genetic disease variations for Haim-Munk Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 CTSC p.Gln286Arg VAR_016935 rs104894208

Expression for Haim-Munk Syndrome

Search GEO for disease gene expression data for Haim-Munk Syndrome.

Pathways for Haim-Munk Syndrome

Pathways related to Haim-Munk Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

GO Terms for Haim-Munk Syndrome

Sources for Haim-Munk Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....