MCID: CRT002
MIFTS: 44

Cartilage-Hair Hypoplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

About this section

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

About this section
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 pancreas.

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

About this section

Diseases related to Cartilage-Hair Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis29.6COL10A1, DDX5, LAMA2, PTCH2, RMRP, RPS19
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders12.7
3mckusick type metaphyseal dysplasia11.8
4chondrodysplasia punctata, x-linked dominant11.6
5tuberculosis10.5
6lymphoma10.5
7neuronitis10.5
8hepatocellular carcinoma10.4
9atherosclerosis10.4
10leukemia10.4
11melanoma10.4
12multidrug-resistant tuberculosis10.4
13adenoma10.4
14cardiomyopathy10.4
15pheochromocytoma10.2
16kufor-rakeb syndrome10.2
17breast cancer10.2
18renal cell carcinoma10.2
19friedreich ataxia10.2
20epidermodysplasia verruciformis10.2
21acute leukemia10.2
22autistic disorder10.2
23b-cell lymphomas10.2
24chronic inflammatory demyelinating polyneuropathy10.2
25critical limb ischemia10.2
26diffuse large b-cell lymphoma10.2
27gastric cancer10.2
28hepatitis10.2
29hypoplastic left heart syndrome10.2
30ischemic heart disease10.2
31myasthenia gravis10.2
32paroxysmal nocturnal hemoglobinuria10.2
33renal tubular acidosis10.2
34thalassemia10.2
35arrhythmogenic right ventricular cardiomyopathy10.2
36asperger syndrome10.2
37congenital stationary night blindness10.2
38limb ischemia10.2
39oral squamous cell carcinoma10.2
40aphasia10.2
41gallbladder disease10.2
42omphalocele10.2
43migraine with aura10.2
44tonsillitis10.2
45felty's syndrome10.2
46gastroschisis10.2
47sarcoma10.2
48heart disease10.2
49fissured tongue10.2
50gestational diabetes10.2

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



Diseases related to cartilage-hair hypoplasia

Symptoms for Cartilage-Hair Hypoplasia

About this section

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

About this section

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

About this section

Genetic tests related to Cartilage-Hair Hypoplasia:

id Genetic test Affiliating Genes
1 Cartilage-Hair Hypoplasia22 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

About this section

MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

33
Bone, Skin, Pancreas, Eye, T cells, Testes, Brain

Animal Models for Cartilage-Hair Hypoplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Cartilage-Hair Hypoplasia

About this section

Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Disrupting Y-Box-Binding Protein 1 Function Using OSU-03012 Prevents Endometriosis Progression in In Vitro and In Vivo Models. (27217374)
2016
2
Differential expression of speckled POZ protein, SPOP: putative regulation by miR-145. (24845504)
2014
3
An apple oligogalactan potentiates the growth inhibitory effect of celecoxib on colorectal cancer. (24274457)
2014
4
Blastomycosis of the Temporal Bone Mimicking Glomus Jugulare Tumor. (25226377)
2014
5
Autoimmune hepatitis on the rise. (24295874)
2013
6
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. (23255504)
2013
7
Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR. (22836616)
2013
8
Receptor activator of NF- I_B ligand (RANKL) increases the release of neutrophil products associated with coronary vulnerability. (22116393)
2012
9
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis. (22740388)
2012
10
Assessing divergence in children with intermittent exotropia. (22390326)
2012
11
Buffered memory: a hypothesis for the maintenance of functional, virus-specific CD8(+) T cells during cytomegalovirus infection. (22058020)
2011
12
Necrotizing fasciitis following transobturator tape procedure: a case report and literature review. (21806897)
2011
13
The Prp19 complex and the Usp4Sart3 deubiquitinating enzyme control reversible ubiquitination at the spliceosome. (20595234)
2010
14
Risperidone-induced priapism: a case report. (19750074)
2009
15
Lactogenic hormonal induction of long distance interactions between beta-casein gene regulatory elements. (19542223)
2009
16
Effects of alcohol-induced human peripheral blood mononuclear cell (PBMC) pretreated whey protein concentrate (WPC) on oxidative damage. (18700777)
2008
17
Glycogen synthase kinase 3 in MLL leukaemia maintenance and targeted therapy. (18806775)
2008
18
Association of KIR genotypes and haplotypes with susceptibility to chronic hepatitis B virus infection in Chinese Han population. (19118512)
2008
19
Folate intake and risk of breast cancer by estrogen and progesterone receptor status in a Swedish cohort. (19064560)
2008
20
A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease. (18201550)
2008
21
Relationship between estrogen receptor-alpha polymorphism and serum levels of vascular cell adhesion molecule-1, intercellular adhesion molecule-1, C-reactive protein and homocysteine in postmenopausal women. (17891599)
2007
22
Evaluation of RNA markers for early detection of cervical neoplasia in exfoliated cervical cells. (17301262)
2007
23
Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options. (17569231)
2007
24
TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired HGPIN lesions. (17032499)
2006
25
IL-17 plays an important role in the development of experimental autoimmune encephalomyelitis. (16785554)
2006
26
Surface charge and hydrophobicity determine ErbB2 binding to the Hsp90 chaperone complex. (15643424)
2005
27
New approaches for the treatment of pain: the GDNF family of neurotrophic growth factors. (16022680)
2005
28
Methyl-CpG-binding proteins in cancer: blaming the DNA methylation messenger. (15959563)
2005
29
Dynamics of beta2-adrenergic receptor-ligand complexes on living cells. (15147203)
2004
30
Co-administration of atypical antipsychotics and antidepressants disturbs contrast detection in schizophrenia. (15246467)
2004
31
Accelerated control of rubella and prevention of congenital rubella syndrome, WHO Region of the Americas. (12696443)
2003
32
Regulation of the human thromboxane A2 receptor gene in human megakaryoblastic MEG-01 cells. (14580363)
2003
33
Syntaxin 6 regulates Glut4 trafficking in 3T3-L1 adipocytes. (12857877)
2003
34
T cells regulate the expression of matrix metalloproteinase in human osteoblasts via a dual mitogen-activated protein kinase mechanism. (12687541)
2003
35
Effects of interferon alpha on the expression of p21cip1/waf1 and cell cycle distribution in carcinoid tumors. (12025230)
2002
36
Dynamics of the pituitary-adrenal ensemble in hypocretin-deficient narcoleptic humans: blunted basal adrenocorticotropin release and evidence for normal time-keeping by the master pacemaker. (12414876)
2002
37
Intratumoral fasciitis-like change in a gastric smooth muscle tumor after fine-needle aspiration. (11447746)
2001
38
Clinical, radiological, histopathological and genetic findings in a Danish "CADASIL" family]. (10766655)
2000
39
Hypoalbuminemia is a poor predictor of survival after percutaneous endoscopic gastrostomy in elderly patients with dementia. (10638571)
2000
40
Coronary aneurysm after bailout stent implantation: diagnosis of a false lumen with intravascular ultrasound. (9258484)
1997
41
Energy metabolism during apoptosis. Bcl-2 promotes survival in hematopoietic cells induced to apoptose by growth factor withdrawal by stabilizing a form of metabolic arrest. (9030519)
1997
42
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
1997
43
Bacterial-induced release of inflammatory mediators by bronchial epithelial cells. (8880112)
1996
44
A double-blind comparative study of ofloxacin otic drops versus neomycin-polymyxin B-hydrocortisone otic drops in the medical treatment of chronic suppurative otitis media. (8733449)
1996
45
Changes in dopamine uptake and developmental effects of dopamine receptor inactivation in the sea urchin. (7772349)
1995
46
Octreotide treatment of acromegaly. A randomized, multicenter study. (1416572)
1992
47
Preparation of affinity-purified, biotinylated tetanus toxin, and characterization and localization of cell surface binding sites on nerve growth factor-treated PC12 cells. (2388710)
1990
48
Massive bilateral retinal vascular occlusion. (2475899)
1989
49
Coagulation studies and correlative histology during experimental hemoglobinemia in rabbits. (4814901)
1974
50

Variations for Cartilage-Hair Hypoplasia

About this section

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

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

Pathways for genes affiliated with Cartilage-Hair Hypoplasia

About this section

GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

About this section

Sources for Cartilage-Hair Hypoplasia

About this section
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