MCID: CRT024
MIFTS: 13

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Categories: Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

MalaCards integrated aliases for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

Name: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 24
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 29

Classifications:



Summaries for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

MalaCards based summary : Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders, also known as cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders, is related to cartilage-hair hypoplasia and anauxetic dysplasia 1. Affiliated tissues include t cells, bone marrow and bone.

GeneReviews: NBK84550

Related Diseases for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cartilage-hair hypoplasia 10.5
2 anauxetic dysplasia 1 10.5
3 hirschsprung disease 1 10.4
4 polykaryocytosis inducer 10.4
5 metaphyseal dysplasia without hypotrichosis 10.4
6 muscular dystrophy, congenital merosin-deficient, 1a 10.4
7 metaphyseal dysplasia 10.4
8 megacolon 10.4
9 macrocytic anemia 10.4
10 hypotrichosis 10.4
11 severe combined immunodeficiency 10.4
12 chickenpox 10.4
13 bronchiectasis 10.4
14 hypermobile ehlers-danlos syndrome 10.4
15 laminin subunit alpha 2-related congenital muscular dystrophy 10.4

Graphical network of the top 20 diseases related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:



Diseases related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Symptoms & Phenotypes for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Drugs & Therapeutics for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Search Clinical Trials , NIH Clinical Center for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Genetic Tests for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Genetic tests related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

# Genetic test Affiliating Genes
1 Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 29

Anatomical Context for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

MalaCards organs/tissues related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

40
T Cells, Bone Marrow, Bone, Skin

Publications for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Articles related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases. 24
29462708 2018
2
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. 24
28284971 2017
3
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia. 24
28631025 2017
4
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. 24
28094436 2017
5
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. 24
27568079 2017
6
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. 24
26279652 2015
7
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia. 24
25416932 2015
8
Non-cystic fibrosis bronchiectasis: clinical presentation, diagnosis and treatment, illustrated by data from a Dutch Teaching Hospital. 24
25968285 2015
9
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. 24
25764362 2015
10
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 24
25663137 2015
11
Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients. 24
24402619 2014
12
Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature. 24
24217815 2014
13
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. 24
24330304 2013
14
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 24
23950054 2013
15
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. 24
23810098 2013
16
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. 24
23140882 2013
17
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs. 24
21714993 2011
18
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 24
21396580 2011
19
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 24
20375313 2010
20
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. 24
21063072 2010
21
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 24
19626344 2009
22
An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA. 24
19701182 2009
23
Cartilage-hair hypoplasia and severe allergy. 24
19394685 2009
24
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. 24
19150606 2009
25
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. 24
18978468 2008
26
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 24
18804272 2008
27
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. 24
18698627 2008
28
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. 24
18627050 2008
29
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. 24
18280853 2008
30
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. 24
18280854 2008
31
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. 24
18164267 2008
32
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 24
17937437 2007
33
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 24
17701897 2007
34
RNase MRP RNA and human genetic diseases. 24
17189938 2007
35
Bone marrow transplantation for cartilage-hair-hypoplasia. 24
17041608 2006
36
RMRP mutations in cartilage-hair hypoplasia. 24
16838329 2006
37
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. 24
16630949 2006
38
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 24
16254002 2005
39
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 24
16252239 2005
40
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 24
16244706 2005
41
The natural history of severe anemia in cartilage-hair hypoplasia. 24
16097009 2005
42
Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. 24
15096576 2004
43
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 24
11940090 2002
44
Hirschsprung disease associated with severe cartilage-hair hypoplasia. 24
11391344 2001
45
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. 24
11370632 2001
46
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. 24
11370774 2001
47
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 24
11207361 2001
48
Increased incidence of cancer in patients with cartilage-hair hypoplasia. 24
10064668 1999
49
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. 24
9809821 1998
50
Cartilage-hair hypoplasia. 24
7897625 1995

Variations for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Expression for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders.

Pathways for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

GO Terms for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Sources for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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