HMS
MCID: HMM002
MIFTS: 32

Haim-Munk Syndrome (HMS)

Categories: 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 58 54 60 76 38 30 13 56 6 41 74
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 58 54 76
Cochin Jewish Disorder 58 54 76
Hms 58 54 76
Hm Syndrome 77 54
Palmoplantar Hyperkeratosis-Periodontopathia-Onychogryposis Syndrome 60
Keratosis Palmoplantaris-Periodontopathia-Onychogryposis Syndrome 60
Palmoplantar Keratoderma-Periodontopathia-Onychogryposis Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
haim-munk syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
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:

33
haim-munk syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 245010
KEGG 38 H00696
MeSH 45 D007645
MESH via Orphanet 46 C537627
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1855627
Orphanet 60 ORPHA2342
MedGen 43 C1855627
UMLS 74 C1855627

Summaries for Haim-Munk Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2342Disease definitionHaim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.EpidemiologyHMS 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 descriptionHMS 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.EtiologyHMS 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-Lefèvre syndrome (PLS) and prepubertal periodontitis (see these terms).Diagnostic methodsDiagnosis is clinical but can be confirmed by detection of the disease-causing mutation.Differential diagnosisDifferential diagnosis includes the allelic disorder PLS and disorders with palmoplantar hyperkeratosis and prepubertal periodontitis.Genetic counselingHMS is transmitted as an autosomal recessivetrait.Management and treatmentManagement 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Haim-Munk Syndrome, also known as keratosis palmoplantaris with periodontopathia and onychogryposis, is related to papillon-lefevre syndrome and hemiplegic migraine. 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 : 58 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)

UniProtKB/Swiss-Prot : 76 Haim-Munk syndrome: An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis.

Wikipedia : 77 Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For... more...

Related Diseases for Haim-Munk Syndrome

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pes planus 33 HP:0001763
2 arachnodactyly 33 HP:0001166
3 recurrent bacterial skin infections 33 HP:0005406
4 thick nail 33 HP:0001805
5 osteolytic defects of the phalanges of the hand 33 HP:0009771
6 severe periodontitis 33 HP:0000166
7 tapering pointed ends of distal finger phalanges 33 HP:0006224
8 congenital palmoplantar keratosis 33 HP:0007545

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes planus

Skin Nails Hair Nails:
onychogryposis

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

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

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

Clinical features from OMIM:

245010

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 30 CTSC

Anatomical Context for Haim-Munk Syndrome

MalaCards organs/tissues related to Haim-Munk Syndrome:

42
Skin, Bone

Publications for Haim-Munk Syndrome

Articles related to Haim-Munk Syndrome:

# Title Authors Year
1
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. ( 24966751 )
2014
2
Haim Munk syndrome: report of two siblings of northern India treated with acitretin. ( 21393975 )
2011
3
Periodontal manifestations in a patient with haim-munk syndrome. ( 20613925 )
2010
4
Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype. ( 20534088 )
2010
5
Haim-Munk syndrome. ( 21760678 )
2010
6
Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings. ( 18222334 )
2008
7
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. ( 15727652 )
2005
8
Destructive arthritis in a patient with Haim-munk syndrome. ( 15088315 )
2004
9
Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. ( 10662807 )
2000

Variations for Haim-Munk Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 CTSC p.Gln286Arg VAR_016935 rs104894208

ClinVar genetic disease variations for Haim-Munk Syndrome:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSC NM_001814.5(CTSC): c.1357A> G (p.Ile453Val) single nucleotide variant Benign/Likely benign rs3888798 GRCh37 Chromosome 11, 88027209: 88027209
2 CTSC NM_001814.5(CTSC): c.1357A> G (p.Ile453Val) single nucleotide variant Benign/Likely benign rs3888798 GRCh38 Chromosome 11, 88294041: 88294041
3 CTSC NM_001814.5(CTSC): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs104894208 GRCh37 Chromosome 11, 88029333: 88029333
4 CTSC NM_001814.5(CTSC): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs104894208 GRCh38 Chromosome 11, 88296165: 88296165
5 CTSC NM_001814.5(CTSC): c.1173T> G (p.Thr391=) single nucleotide variant Benign/Likely benign rs17594 GRCh37 Chromosome 11, 88027393: 88027393
6 CTSC NM_001814.5(CTSC): c.1173T> G (p.Thr391=) single nucleotide variant Benign/Likely benign rs17594 GRCh38 Chromosome 11, 88294225: 88294225
7 CTSC NM_001814.5(CTSC): c.-18T> C single nucleotide variant Benign/Likely benign rs11019400 GRCh37 Chromosome 11, 88070858: 88070858
8 CTSC NM_001814.5(CTSC): c.-18T> C single nucleotide variant Benign/Likely benign rs11019400 GRCh38 Chromosome 11, 88337690: 88337690
9 CTSC NM_001814.5(CTSC): c.*279A> G single nucleotide variant Uncertain significance rs146045268 GRCh37 Chromosome 11, 88026895: 88026895
10 CTSC NM_001814.5(CTSC): c.*279A> G single nucleotide variant Uncertain significance rs146045268 GRCh38 Chromosome 11, 88293727: 88293727
11 CTSC NM_001814.5(CTSC): c.*253T> C single nucleotide variant Uncertain significance rs116618365 GRCh37 Chromosome 11, 88026921: 88026921
12 CTSC NM_001814.5(CTSC): c.*253T> C single nucleotide variant Uncertain significance rs116618365 GRCh38 Chromosome 11, 88293753: 88293753
13 CTSC NM_001814.5(CTSC): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs886048739 GRCh37 Chromosome 11, 88027612: 88027612
14 CTSC NM_001814.5(CTSC): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs886048739 GRCh38 Chromosome 11, 88294444: 88294444
15 CTSC NM_001814.5(CTSC): c.948G> C (p.Leu316=) single nucleotide variant Uncertain significance rs145373075 GRCh37 Chromosome 11, 88027618: 88027618
16 CTSC NM_001814.5(CTSC): c.948G> C (p.Leu316=) single nucleotide variant Uncertain significance rs145373075 GRCh38 Chromosome 11, 88294450: 88294450
17 CTSC NM_001814.5(CTSC): c.263A> G (p.Tyr88Cys) single nucleotide variant Uncertain significance rs142378484 GRCh38 Chromosome 11, 88334992: 88334992
18 CTSC NM_001814.5(CTSC): c.263A> G (p.Tyr88Cys) single nucleotide variant Uncertain significance rs142378484 GRCh37 Chromosome 11, 88068160: 88068160
19 CTSC NM_001814.5(CTSC): c.173-6delC deletion Uncertain significance rs372892181 GRCh38 Chromosome 11, 88335088: 88335088
20 CTSC NM_001814.5(CTSC): c.173-6delC deletion Uncertain significance rs372892181 GRCh37 Chromosome 11, 88068256: 88068256
21 CTSC NM_001814.5(CTSC): c.-7C> A single nucleotide variant Uncertain significance rs770352776 GRCh38 Chromosome 11, 88337679: 88337679
22 CTSC NM_001814.5(CTSC): c.-7C> A single nucleotide variant Uncertain significance rs770352776 GRCh37 Chromosome 11, 88070847: 88070847
23 CTSC NM_001814.5(CTSC): c.-23C> G single nucleotide variant Uncertain significance rs886048743 GRCh37 Chromosome 11, 88070863: 88070863
24 CTSC NM_001814.5(CTSC): c.-23C> G single nucleotide variant Uncertain significance rs886048743 GRCh38 Chromosome 11, 88337695: 88337695
25 CTSC NM_001814.5(CTSC): c.-48G> A single nucleotide variant Uncertain significance rs200415443 GRCh38 Chromosome 11, 88337720: 88337720
26 CTSC NM_001814.5(CTSC): c.-48G> A single nucleotide variant Uncertain significance rs200415443 GRCh37 Chromosome 11, 88070888: 88070888
27 CTSC NM_001814.5(CTSC): c.1314C> T (p.Tyr438=) single nucleotide variant Uncertain significance rs143736590 GRCh37 Chromosome 11, 88027252: 88027252
28 CTSC NM_001814.5(CTSC): c.1314C> T (p.Tyr438=) single nucleotide variant Uncertain significance rs143736590 GRCh38 Chromosome 11, 88294084: 88294084
29 CTSC NM_001814.5(CTSC): c.1146C> T (p.His382=) single nucleotide variant Uncertain significance rs45558734 GRCh37 Chromosome 11, 88027420: 88027420
30 CTSC NM_001814.5(CTSC): c.1146C> T (p.His382=) single nucleotide variant Uncertain significance rs45558734 GRCh38 Chromosome 11, 88294252: 88294252
31 CTSC NM_001814.5(CTSC): c.729C> T (p.Ile243=) single nucleotide variant Uncertain significance rs766063253 GRCh38 Chromosome 11, 88300558: 88300558
32 CTSC NM_001814.5(CTSC): c.729C> T (p.Ile243=) single nucleotide variant Uncertain significance rs766063253 GRCh37 Chromosome 11, 88033726: 88033726
33 CTSC NM_001814.5(CTSC): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs763656343 GRCh38 Chromosome 11, 88309295: 88309295
34 CTSC NM_001814.5(CTSC): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs763656343 GRCh37 Chromosome 11, 88042463: 88042463
35 CTSC NM_001814.5(CTSC): c.-45C> G single nucleotide variant Uncertain significance rs181685520 GRCh38 Chromosome 11, 88337717: 88337717
36 CTSC NM_001814.5(CTSC): c.-45C> G single nucleotide variant Uncertain significance rs181685520 GRCh37 Chromosome 11, 88070885: 88070885
37 CTSC NM_001814.5(CTSC): c.-62C> T single nucleotide variant Likely benign rs139541967 GRCh38 Chromosome 11, 88337734: 88337734
38 CTSC NM_001814.5(CTSC): c.-62C> T single nucleotide variant Likely benign rs139541967 GRCh37 Chromosome 11, 88070902: 88070902
39 CTSC NM_001814.5(CTSC): c.1194C> G (p.Asn398Lys) single nucleotide variant Uncertain significance rs201519830 GRCh37 Chromosome 11, 88027372: 88027372
40 CTSC NM_001814.5(CTSC): c.1194C> G (p.Asn398Lys) single nucleotide variant Uncertain significance rs201519830 GRCh38 Chromosome 11, 88294204: 88294204
41 CTSC NM_001814.5(CTSC): c.1123G> A (p.Glu375Lys) single nucleotide variant Uncertain significance rs886048738 GRCh37 Chromosome 11, 88027443: 88027443
42 CTSC NM_001814.5(CTSC): c.1123G> A (p.Glu375Lys) single nucleotide variant Uncertain significance rs886048738 GRCh38 Chromosome 11, 88294275: 88294275
43 CTSC NM_001814.5(CTSC): c.850A> G (p.Ser284Gly) single nucleotide variant Uncertain significance rs886048740 GRCh37 Chromosome 11, 88029340: 88029340
44 CTSC NM_001814.5(CTSC): c.850A> G (p.Ser284Gly) single nucleotide variant Uncertain significance rs886048740 GRCh38 Chromosome 11, 88296172: 88296172
45 CTSC NM_001814.5(CTSC): c.29C> T (p.Ala10Val) single nucleotide variant Uncertain significance rs765499436 GRCh38 Chromosome 11, 88337644: 88337644
46 CTSC NM_001814.5(CTSC): c.29C> T (p.Ala10Val) single nucleotide variant Uncertain significance rs765499436 GRCh37 Chromosome 11, 88070812: 88070812
47 CTSC NM_001814.5(CTSC): c.-74T> C single nucleotide variant Likely benign rs11600158 GRCh38 Chromosome 11, 88337746: 88337746
48 CTSC NM_001814.5(CTSC): c.-74T> C single nucleotide variant Likely benign rs11600158 GRCh37 Chromosome 11, 88070914: 88070914
49 CTSC NM_001814.5(CTSC): c.-80G> C single nucleotide variant Uncertain significance rs758293258 GRCh38 Chromosome 11, 88337752: 88337752
50 CTSC NM_001814.5(CTSC): c.-80G> C single nucleotide variant Uncertain significance rs758293258 GRCh37 Chromosome 11, 88070920: 88070920

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:

38
# Name Kegg Source Accession
1 Lysosome hsa04142

GO Terms for Haim-Munk Syndrome

Sources for Haim-Munk Syndrome

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75 UMLS via Orphanet
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