MCID: CRT002
MIFTS: 43

Cartilage-Hair Hypoplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

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Aliases & Descriptions for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 49 10 11 45 22 23 47 12 36 65
Metaphyseal Chondrodysplasia, Mckusick Type 10 22 23
Mckusick's Metaphyseal Chondrodysplasia Syndrome 23 24
Chh 45 23
Metaphyseal Chondrodysplasia, Recessive Type 23
 
Metaphyseal Chondrodysplasia Mckusick Type 45
Mckusick Type Metaphyseal Chondrodysplasia 10
Cartilage Hair Hypoplasia Like Syndrome 45
Cartilage-Hair Syndrome 23

Characteristics:

HPO:

61
cartilage-hair hypoplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 250250
Disease Ontology10 DOID:14773
SNOMED-CT59 234421004, 7720002
MeSH36 C535916
NCIt42 C61245
UMLS65 C0220748

Summaries for Cartilage-Hair Hypoplasia

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NIH Rare Diseases:45 Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. signs and symptoms may vary among affected individuals. people with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. gastrointestinal problems are also common. cartilage-hair hypoplasia is caused by mutations in the rmrp gene and is inherited in an autosomal recessive fashion. last updated: 6/22/2011

MalaCards based summary: Cartilage-Hair Hypoplasia, also known as metaphyseal chondrodysplasia, mckusick type, is related to metaphyseal dysplasia without hypotrichosis and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including large face, abnormal vertebral ossification and abnormal hair quantity. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease). Affiliated tissues include bone, skin and heart.

Genetics Home Reference:23 Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.

OMIM:49 Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by... (250250) more...

Wikipedia:68 Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Related Diseases for Cartilage-Hair Hypoplasia

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Graphical network of the top 20 diseases related to Cartilage-Hair Hypoplasia:



Diseases related to cartilage-hair hypoplasia

Symptoms for Cartilage-Hair Hypoplasia

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Symptoms by clinical synopsis from OMIM:

250250

Clinical features from OMIM:

250250

HPO human phenotypes related to Cartilage-Hair Hypoplasia:

(show all 92)
id Description Frequency HPO Source Accession
1 large face hallmark (90%) HP:0100729
2 abnormal vertebral ossification hallmark (90%) HP:0100569
3 abnormal hair quantity hallmark (90%) HP:0011362
4 spinal dysraphism hallmark (90%) HP:0010301
5 abnormality of the distal phalanx of finger hallmark (90%) HP:0009832
6 abnormality of retinal pigmentation hallmark (90%) HP:0007703
7 bowing of the long bones hallmark (90%) HP:0006487
8 abnormality of epiphysis morphology hallmark (90%) HP:0005930
9 multiple enchondromatosis hallmark (90%) HP:0005701
10 abnormality of bone mineral density hallmark (90%) HP:0004348
11 short stature hallmark (90%) HP:0004322
12 abnormality of the tibia hallmark (90%) HP:0002992
13 micromelia hallmark (90%) HP:0002983
14 hypocalcemia hallmark (90%) HP:0002901
15 tracheal stenosis hallmark (90%) HP:0002777
16 scoliosis hallmark (90%) HP:0002650
17 eeg abnormality hallmark (90%) HP:0002353
18 respiratory insufficiency hallmark (90%) HP:0002093
19 abnormality of the pancreas hallmark (90%) HP:0001732
20 abnormality of the cardiac septa hallmark (90%) HP:0001671
21 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
22 muscular hypotonia hallmark (90%) HP:0001252
23 brachydactyly syndrome hallmark (90%) HP:0001156
24 blue sclerae hallmark (90%) HP:0000592
25 hypermetropia hallmark (90%) HP:0000540
26 visual impairment hallmark (90%) HP:0000505
27 strabismus hallmark (90%) HP:0000486
28 short neck hallmark (90%) HP:0000470
29 convex nasal ridge hallmark (90%) HP:0000444
30 malar flattening hallmark (90%) HP:0000272
31 mucopolysacchariduria typical (50%) HP:0008155
32 depressed nasal bridge typical (50%) HP:0005280
33 abnormality of the hip bone typical (50%) HP:0003272
34 malabsorption typical (50%) HP:0002024
35 frontal bossing typical (50%) HP:0002007
36 reduced tendon reflexes typical (50%) HP:0001315
37 narrow chest typical (50%) HP:0000774
38 myopia typical (50%) HP:0000545
39 wide nasal bridge typical (50%) HP:0000431
40 low-set, posteriorly rotated ears typical (50%) HP:0000368
41 micrognathia typical (50%) HP:0000347
42 gingival overgrowth typical (50%) HP:0000212
43 abnormality of the palate typical (50%) HP:0000174
44 cognitive impairment occasional (7.5%) HP:0100543
45 arrhythmia occasional (7.5%) HP:0011675
46 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
47 short thorax occasional (7.5%) HP:0010306
48 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
49 accelerated skeletal maturation occasional (7.5%) HP:0005616
50 decreased antibody level in blood occasional (7.5%) HP:0004313
51 short palm occasional (7.5%) HP:0004279
52 abnormality of chromosome stability occasional (7.5%) HP:0003220
53 delayed skeletal maturation occasional (7.5%) HP:0002750
54 aganglionic megacolon occasional (7.5%) HP:0002251
55 hepatomegaly occasional (7.5%) HP:0002240
56 joint hypermobility occasional (7.5%) HP:0001382
57 sacral dimple occasional (7.5%) HP:0000960
58 pectus carinatum occasional (7.5%) HP:0000768
59 anteverted nares occasional (7.5%) HP:0000463
60 depressed nasal ridge occasional (7.5%) HP:0000457
61 macrotia occasional (7.5%) HP:0000400
62 epicanthus occasional (7.5%) HP:0000286
63 metaphyseal dysplasia HP:0100255
64 neonatal short-limb short stature HP:0008921
65 narrow vertebral interpedicular distance HP:0008450
66 neoplasm of the skin HP:0008069
67 sparse facial hair HP:0007464
68 flaring of lower rib cage HP:0006589
69 cellular immunodeficiency HP:0005374
70 susceptibility to chickenpox HP:0005360
71 congenital hypoplastic anemia HP:0004810
72 short palm HP:0004279
73 impaired lymphocyte transformation with phytohemagglutinin HP:0003347
74 metaphyseal cupping HP:0003021
75 metaphyseal widening HP:0003016
76 lumbar hyperlordosis HP:0002938
77 lymphoma HP:0002665
78 scoliosis HP:0002650
79 abnormality of pelvic girdle bone morphology HP:0002644
80 fair hair HP:0002286
81 aganglionic megacolon HP:0002251
82 fine hair HP:0002213
83 esophageal atresia HP:0002032
84 malabsorption HP:0002024
85 macrocytic anemia HP:0001972
86 lymphopenia HP:0001888
87 neutropenia HP:0001875
88 joint hypermobility HP:0001382
89 limited elbow extension HP:0001377
90 sparse eyelashes HP:0000653
91 sparse eyebrow HP:0000535
92 brachycephaly HP:0000248

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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Drugs for Cartilage-Hair Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46085

Interventional clinical trials:

idNameStatusNCT IDPhase
1Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against ChickenpoxEnrolling by invitationNCT02383797Phase 4
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Genetic Studies in the Amish and MennonitesCompletedNCT00359580

Search NIH Clinical Center for Cartilage-Hair Hypoplasia


Cochrane evidence based reviews: cartilage-hair hypoplasia

Genetic Tests for Cartilage-Hair Hypoplasia

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Genetic tests related to Cartilage-Hair Hypoplasia:

id Genetic test Affiliating Genes
1 Cartilage-Hair Hypoplasia22 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

33
Bone, Skin, Heart, B cells, T cells, Tonsil, Eye

Animal Models for Cartilage-Hair Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Cartilage-Hair Hypoplasia

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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
2
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. (26279652)
2015
3
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. (25764362)
2015
4
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
5
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
6
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
7
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
8
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
9
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
10
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
11
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
12
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. (21063072)
2010
13
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
14
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
15
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
16
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
17
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
18
Cartilage-hair hypoplasia. (17628888)
2007
19
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
20
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
21
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
22
The natural history of severe anemia in cartilage-hair hypoplasia. (16097009)
2005
23
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
24
Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia. (15167352)
2004
25
Increased mortality in cartilage-hair hypoplasia. (11124791)
2001
26
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
27
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
28
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
29
Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. (10633276)
2000
30
Radiologic changes in infancy in McKusick cartilage hair hypoplasia. (10494084)
1999
31
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. (9799296)
1998
32
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. (8777921)
1996
33
Cartilage-hair hypoplasia associated with IgG2 deficiency. (8775556)
1995
34
Locus homogeneity for cartilage-hair hypoplasia proven? (7649562)
1995
35
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. (7981754)
1993
36
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. (8444246)
1993
37
Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. (8235252)
1993
38
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. (1404295)
1992
39
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. (1437368)
1992
40
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
41
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
42
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
43
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
1982
44
An inverted ratio for T-helper/T-suppressor cells, and selective deficiency of cell-mediated immunity, in a girl with cartilage hair hypoplasia. (6450048)
1980
45
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (272241)
1978
46
Cellular and humoral immmunity in cartilage-hair hypoplasia. (724297)
1978
47
Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia. (1151542)
1975
48
Metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia). (4549299)
1974
49
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. (14284412)
1965
50

Variations for Cartilage-Hair Hypoplasia

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Clinvar genetic disease variations for Cartilage-Hair Hypoplasia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1RMRPRMRP: n.71A> Gsingle nucleotide variantPathogenicrs199476103GRCh37Chr 9, 35657945: 35657945
2RMRPNM_174923.2(CCDC107): c.-624C> Asingle nucleotide variantPathogenicrs727502774GRCh38Chr 9, 35657756: 35657756
3RMRPNM_174923.2(CCDC107): c.-349_-340dupTCACAGAGTAduplicationPathogenicrs727502775GRCh37Chr 9, 35658028: 35658037
4RMRPNM_174923.2(CCDC107): c.-352_-338dupGCTTCACAGAGTAGTduplicationPathogenicrs727502776GRCh38Chr 9, 35658028: 35658042
5RMRPRMRP, 2-BP DUP, 98TGduplicationPathogenic
6RMRPNM_174923.2(CCDC107): c.-357_-356insCTCAGGinsertionPathogenicrs727502777GRCh38Chr 9, 35658023: 35658024
7RMRPNM_174923.2(CCDC107): c.-359_-343dup17duplicationPathogenicrs727502778GRCh37Chr 9, 35658018: 35658034
8RMRPRMRP, 193G-Asingle nucleotide variantPathogenic
9RMRPRMRP, 17-BP DUP, NT3duplicationPathogenic
10RMRPRMRP, 182G-Asingle nucleotide variantPathogenic
11RMRPNR_003051.3(RMRP): n.195dupTduplicationPathogenicrs796065036GRCh37Chr 9, 35657821: 35657821
12RMRPNR_003051.3(RMRP): n.64C> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs786204684GRCh37Chr 9, 35657952: 35657952

Expression for genes affiliated with Cartilage-Hair Hypoplasia

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Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia.

Pathways for genes affiliated with Cartilage-Hair Hypoplasia

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GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

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Sources for Cartilage-Hair Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet