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 25
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 hirschsprung disease 1. An important gene associated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease). Affiliated tissues include bone marrow and skin.

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 14)
# Related Disease Score Top Affiliating Genes
1 cartilage-hair hypoplasia 29.8 RMRP LAMA2
2 hirschsprung disease 1 10.4
3 polykaryocytosis inducer 10.4
4 metaphyseal dysplasia without hypotrichosis 10.4
5 anauxetic dysplasia 1 10.4
6 metaphyseal dysplasia 10.4
7 combined immunodeficiency 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

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
Bone Marrow, Skin

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

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

(show top 50) (show all 60)
# Title Authors PMID Year
1
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. 25
31250547 2019
2
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases. 25
29462708 2018
3
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. 25
28284971 2017
4
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia. 25
28631025 2017
5
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. 25
28094436 2017
6
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. 25
27568079 2017
7
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. 25
26279652 2015
8
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia. 25
25416932 2015
9
Non-cystic fibrosis bronchiectasis: clinical presentation, diagnosis and treatment, illustrated by data from a Dutch Teaching Hospital. 25
25968285 2015
10
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. 25
25764362 2015
11
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25
25663137 2015
12
Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients. 25
24402619 2014
13
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. 25
24217815 2014
14
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. 25
24330304 2013
15
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 25
23950054 2013
16
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. 25
23810098 2013
17
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. 25
23140882 2013
18
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs. 25
21714993 2011
19
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. 25
21455487 2011
20
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 25
21396580 2011
21
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 25
20375313 2010
22
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. 25
21063072 2010
23
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 25
19626344 2009
24
An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA. 25
19701182 2009
25
Cartilage-hair hypoplasia and severe allergy. 25
19394685 2009
26
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. 25
19150606 2009
27
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 25
18804272 2008
28
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. 25
18978468 2008
29
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. 25
18698627 2008
30
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. 25
18627050 2008
31
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. 25
18280854 2008
32
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. 25
18280853 2008
33
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. 25
18164267 2008
34
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 25
17937437 2007
35
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 25
17701897 2007
36
RNase MRP RNA and human genetic diseases. 25
17189938 2007
37
Bone marrow transplantation for cartilage-hair-hypoplasia. 25
17041608 2006
38
RMRP mutations in cartilage-hair hypoplasia. 25
16838329 2006
39
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. 25
16630949 2006
40
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 25
16254002 2005
41
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 25
16252239 2005
42
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 25
16244706 2005
43
The natural history of severe anemia in cartilage-hair hypoplasia. 25
16097009 2005
44
Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. 25
15096576 2004
45
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 25
11940090 2002
46
Hirschsprung disease associated with severe cartilage-hair hypoplasia. 25
11391344 2001
47
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. 25
11370774 2001
48
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. 25
11370632 2001
49
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 25
11207361 2001
50
Increased incidence of cancer in patients with cartilage-hair hypoplasia. 25
10064668 1999

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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