CHH
MCID: CRT002
MIFTS: 57

Cartilage-Hair Hypoplasia (CHH) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

Aliases & Descriptions for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 54 12 50 24 25 13 52 42 14 69
Metaphyseal Chondrodysplasia, Mckusick Type 12 24 25
Mckusick's Metaphyseal Chondrodysplasia Syndrome 25 29
Chh 50 25
Metaphyseal Chondrodysplasia, Recessive Type 25
Mckusick Type Metaphyseal Chondrodysplasia 12
Metaphyseal Chondrodysplasia Mckusick Type 50
Cartilage Hair Hypoplasia Like Syndrome 50
Cartilage-Hair Syndrome 25

Characteristics:

HPO:

32
cartilage-hair hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 250250
Disease Ontology 12 DOID:14773
MeSH 42 C535916
NCIt 47 C61245
SNOMED-CT 64 234421004 7720002
UMLS 69 C0220748

Summaries for Cartilage-Hair Hypoplasia

NIH Rare Diseases : 50 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 anauxetic dysplasia and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including short neck, abnormality of epiphysis morphology and muscular hypotonia. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are ERK Signaling and Toll-like Receptor Signaling Pathway. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and endocrine/exocrine gland

Genetics Home Reference : 25 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 : 54 Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by... (250250) more...

Wikipedia : 71 Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Related Diseases for Cartilage-Hair Hypoplasia

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 anauxetic dysplasia 28.6 BAX BCL2 COL10A1 FAS FASLG LAMA2
2 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.4
3 metaphyseal dysplasia without hypotrichosis 11.6
4 omenn syndrome 10.8
5 chondrodysplasia punctata, x-linked dominant 10.8
6 charcot-marie-tooth neuropathy x type 5 10.2 LAMA2 RMRP
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.2 LAMA2 RMRP
8 pterygium, antecubital 10.2 COL10A1 RMRP
9 13q12.3 microdeletion syndrome 10.1 BCL2 COL10A1
10 orbital margin, hypoplasia of 10.1 COL10A1 RMRP
11 dwarfism 10.1
12 arterial calcification, generalized, of infancy, 1 10.1 COL10A1 RMRP
13 midline interhemispheric variant of holoprosencephaly 10.0 FAS FASLG
14 skeletal muscle cancer 10.0 FAS FASLG
15 neutropenia 10.0
16 lymphoma 10.0
17 basal cell carcinoma 10.0
18 bronchiectasis 10.0
19 macrogyria, pseudobulbar palsy and mental retardation 10.0 FAS FASLG
20 trabecular follicular adenocarcinoma 10.0 FAS FASLG
21 kidney disease 10.0 BAX BCL2
22 pyloric antrum cancer 9.9 BAX BCL2
23 pseudo-meigs syndrome 9.9 FAS FASLG
24 congenital absence of thigh and lower leg with foot present, bilateral 9.9 BAX BCL2
25 trichorhinophalangeal syndrome 9.9
26 severe combined immunodeficiency 9.9
27 hypoganglionosis 9.9
28 thrombosis 9.9
29 autoimmune hypoparathyroidism 9.9
30 portal hypertension 9.9
31 thrombocytopenic purpura, autoimmune 9.9
32 hypoparathyroidism 9.9
33 hodgkin lymphoma 9.9
34 dysostosis 9.9
35 celiac disease 9.9
36 bronchiolitis 9.9
37 purpura 9.9
38 hypotrichosis 9.9
39 wrinkly skin syndrome 9.9
40 poliomyelitis 9.9
41 hypersplenism 9.9
42 diamond-blackfan anemia 9.9
43 autoimmune hemolytic anemia 9.9
44 hematopoietic stem cell transplantation 9.9
45 hemolytic anemia 9.9
46 endocervicitis 9.8 BAX BCL2
47 gallbladder papillomatosis 9.8 BAX BCL2
48 hyperparathyroidism, neonatal 9.8 FAS FASLG RPS19
49 breast adenomyoepithelioma 9.8 FAS FASLG
50 chondrocalcinosis 9.8 BAX BCL2 FASLG

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



Diseases related to Cartilage-Hair Hypoplasia

Symptoms & Phenotypes for Cartilage-Hair Hypoplasia

Symptoms by clinical synopsis from OMIM:

250250

Clinical features from OMIM:

250250

Human phenotypes related to Cartilage-Hair Hypoplasia:

32 (show top 50) (show all 90)
id Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 abnormality of epiphysis morphology 32 HP:0005930
3 muscular hypotonia 32 HP:0001252
4 failure to thrive 32 HP:0001508
5 respiratory insufficiency 32 HP:0002093
6 eeg abnormality 32 HP:0002353
7 scoliosis 32 HP:0002650
8 hyperlordosis 32 HP:0003307
9 large face 32 HP:0100729
10 gingival overgrowth 32 HP:0000212
11 macrotia 32 HP:0000400
12 hepatomegaly 32 HP:0002240
13 delayed skeletal maturation 32 HP:0002750
14 depressed nasal bridge 32 HP:0005280
15 wide nasal bridge 32 HP:0000431
16 pectus carinatum 32 HP:0000768
17 malabsorption 32 HP:0002024
18 anteverted nares 32 HP:0000463
19 visual impairment 32 HP:0000505
20 abnormality of retinal pigmentation 32 HP:0007703
21 mucopolysacchariduria 32 HP:0008155
22 cognitive impairment 32 HP:0100543
23 brachycephaly 32 HP:0000248
24 prominent forehead 32 HP:0011220
25 anemia 32 HP:0001903
26 aplasia/hypoplasia of the abdominal wall musculature 32 HP:0010318
27 strabismus 32 HP:0000486
28 narrow chest 32 HP:0000774
29 micromelia 32 HP:0002983
30 short palm 32 HP:0004279
31 joint hyperflexibility 32 HP:0005692
32 epicanthus 32 HP:0000286
33 short thorax 32 HP:0010306
34 abnormality of the hip bone 32 HP:0003272
35 diaphyseal thickening 32 HP:0005019
36 cardiomyopathy 32 HP:0001638
37 decreased antibody level in blood 32 HP:0004313
38 reduced tendon reflexes 32 HP:0001315
39 heart block 32 HP:0012722
40 aganglionic megacolon 32 HP:0002251
41 myopia 32 HP:0000545
42 depressed nasal ridge 32 HP:0000457
43 metaphyseal chondrodysplasia 32 HP:0005871
44 rhizomelia 32 HP:0008905
45 small hand 32 HP:0200055
46 abnormality of the pancreas 32 HP:0001732
47 low-set, posteriorly rotated ears 32 HP:0000368
48 joint hypermobility 32 HP:0001382
49 lymphopenia 32 HP:0001888
50 abnormality of chromosome stability 32 HP:0003220

GenomeRNAi Phenotypes related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 LAMA2 BAX BCL2 FAS
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 FASLG LAMA2 BAX BCL2 FAS

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.88 BAX BCL2 COL10A1 FAS FASLG LAMA2
2 hematopoietic system MP:0005397 9.87 RPS19 BAX BCL2 COL10A1 FAS FASLG
3 immune system MP:0005387 9.73 BAX BCL2 COL10A1 FAS FASLG LAMA2
4 mortality/aging MP:0010768 9.7 BAX BCL2 COL10A1 FAS FASLG LAMA2
5 hearing/vestibular/ear MP:0005377 9.67 BAX BCL2 FAS LAMA2
6 neoplasm MP:0002006 9.26 BAX BCL2 FAS FASLG
7 nervous system MP:0003631 9.1 BCL2 COL10A1 FAS FASLG LAMA2 BAX

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
2 Study of Skeletal Disorders and Short Stature Completed NCT00001754
3 Genetic Studies in the Amish and Mennonites Completed NCT00359580

Search NIH Clinical Center for Cartilage-Hair Hypoplasia

Cochrane evidence based reviews: cartilage-hair hypoplasia

Genetic Tests for Cartilage-Hair Hypoplasia

Genetic tests related to Cartilage-Hair Hypoplasia:

id Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Mckusick Type 29
2 Cartilage-Hair Hypoplasia 24 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

39
Bone, Skin, T Cells, Heart, Eye, Pancreas, Bone Marrow

Publications for Cartilage-Hair Hypoplasia

Articles related to Cartilage-Hair Hypoplasia:

(show top 50) (show all 133)
id Title Authors Year
1
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. ( 27862957 )
2017
2
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. ( 28284971 )
2017
3
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
4
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. ( 28094436 )
2017
5
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. ( 28126377 )
2017
6
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. ( 27568079 )
2016
7
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 AA >A G Mutation in RMRP Gene. ( 26830278 )
2016
8
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family. ( 27740950 )
2016
9
Decreased telomere length in children with cartilage-hair hypoplasia. ( 27986801 )
2016
10
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. ( 27270827 )
2016
11
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. ( 26279652 )
2015
12
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. ( 25764362 )
2015
13
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? ( 25596067 )
2015
14
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. ( 24402619 )
2014
15
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. ( 24009312 )
2014
16
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. ( 23140882 )
2013
17
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. ( 24217815 )
2013
18
Cartilage Hair Hypoplasia: First report from Iran. ( 24791127 )
2013
19
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. ( 23949991 )
2013
20
Combating cancer predisposition in association with idiopathic immune deficiency: a recurrent nodal and cutaneous T-cell lymphoproliferative disease in a patient with cartilage-hair hypoplasia. ( 22999941 )
2013
21
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. ( 24330304 )
2013
22
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. ( 23643676 )
2013
23
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. ( 22987807 )
2012
24
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. ( 21714993 )
2011
25
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. ( 21813924 )
2011
26
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. ( 21570718 )
2011
27
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. ( 21396580 )
2011
28
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
29
Novel mutation in boy with cartilage-hair hypoplasia. ( 21146796 )
2010
30
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. ( 20538026 )
2010
31
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. ( 20375313 )
2010
32
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. ( 20112607 )
2009
33
Cartilage-hair hypoplasia and severe allergy. ( 19394685 )
2009
34
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. ( 19150606 )
2009
35
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. ( 19626344 )
2009
36
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. ( 18164267 )
2008
37
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. ( 18978468 )
2008
38
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. ( 18540246 )
2008
39
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. ( 18698627 )
2008
40
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. ( 18280854 )
2008
41
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. ( 18627050 )
2008
42
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. ( 18280853 )
2008
43
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. ( 17701897 )
2007
44
Cartilage-hair hypoplasia. ( 17628888 )
2007
45
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. ( 17937437 )
2007
46
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. ( 17015150 )
2006
47
RMRP mutations in cartilage-hair hypoplasia. ( 16838329 )
2006
48
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. ( 16832578 )
2006
49
Bone marrow transplantation for cartilage-hair-hypoplasia. ( 17041608 )
2006
50
Cartilage hair hypoplasia and multiple basal cell carcinomas. ( 16428006 )
2006

Variations for Cartilage-Hair Hypoplasia

ClinVar genetic disease variations for Cartilage-Hair Hypoplasia:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 RMRP RMRP: n.71A> G single nucleotide variant Pathogenic rs199476103 GRCh37 Chromosome 9, 35657945: 35657945
2 RMRP NR_003051.3(RMRP): n.263G> T single nucleotide variant Pathogenic rs727502774 GRCh38 Chromosome 9, 35657756: 35657756
3 RMRP NR_003051.3(RMRP): n.-22_-13dupTACTCTGTGA duplication Pathogenic rs727502775 GRCh37 Chromosome 9, 35658028: 35658037
4 RMRP NR_003051.3(RMRP): n.-24_-10dupACTACTCTGTGAAGC duplication Pathogenic rs727502776 GRCh38 Chromosome 9, 35658028: 35658042
5 RMRP RMRP, 2-BP DUP, 98TG duplication Pathogenic
6 RMRP NR_003051.3(RMRP): n.-6_-5insCCTGAG insertion Pathogenic rs727502777 GRCh38 Chromosome 9, 35658023: 35658024
7 RMRP NR_003051.3(RMRP): n.-19_-3dup17 duplication Pathogenic rs727502778 GRCh37 Chromosome 9, 35658018: 35658034
8 RMRP RMRP, 193G-A single nucleotide variant Pathogenic
9 RMRP NR_003051.3(RMRP): n.-14_3dup17 duplication Pathogenic rs878853178 GRCh38 Chromosome 9, 35658016: 35658032
10 RMRP RMRP, 182G-A single nucleotide variant Pathogenic
11 RMRP NR_003051.3(RMRP): n.195dupT duplication Pathogenic rs796065036 GRCh37 Chromosome 9, 35657821: 35657821
12 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Pathogenic/Likely pathogenic rs786204684 GRCh37 Chromosome 9, 35657952: 35657952

Expression for Cartilage-Hair Hypoplasia

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

Pathways for Cartilage-Hair Hypoplasia

Pathways related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

(show all 30)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 BAX BCL2 COL10A1 FAS FASLG LAMA2
2
Show member pathways
12.68 BAX BCL2 FAS FASLG
3
Show member pathways
12.62 BAX BCL2 FAS FASLG
4
Show member pathways
12.56 BAX BCL2 FAS FASLG
5
Show member pathways
12.54 BAX BCL2 FAS FASLG
6 12.36 BCL2 FASLG LAMA2
7 12.25 BAX BCL2 FAS FASLG LAMA2
8
Show member pathways
11.99 BAX BCL2 FAS FASLG
9
Show member pathways
11.98 BAX BCL2 FAS FASLG
10 11.89 BAX BCL2 FAS FASLG
11 11.83 BAX BCL2 FAS
12 11.81 BAX BCL2 FAS
13 11.73 BAX BCL2 FASLG
14
Show member pathways
11.38 BAX BCL2 FAS FASLG
15 11.3 BAX BCL2
16 11.28 BAX BCL2
17 11.28 FAS FASLG
18
Show member pathways
11.19 BAX BCL2 FAS
19 11.17 FAS FASLG
20
Show member pathways
11.15 BCL2 FAS FASLG
21 11.12 BAX BCL2
22 11.12 BAX BCL2 FAS FASLG
23 11.06 BAX BCL2
24 11 BAX BCL2 FASLG
25 10.95 BAX BCL2
27
Show member pathways
10.92 BAX BCL2
28 10.85 BAX BCL2
29 10.63 BAX BCL2 FAS FASLG
30 10.48 BAX BCL2

GO Terms for Cartilage-Hair Hypoplasia

Cellular components related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 pore complex GO:0046930 8.62 BAX BCL2

Biological processes related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

(show all 38)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.93 BAX BCL2 FAS FASLG
2 positive regulation of apoptotic process GO:0043065 9.85 BAX FAS FASLG
3 regulation of apoptotic process GO:0042981 9.83 BAX BCL2 FAS
4 response to toxic substance GO:0009636 9.73 BAX BCL2 FAS
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.7 BAX FAS FASLG
6 positive regulation of neuron apoptotic process GO:0043525 9.67 BAX FASLG
7 ovarian follicle development GO:0001541 9.67 BAX BCL2
8 spleen development GO:0048536 9.67 BCL2 FAS
9 apoptotic signaling pathway GO:0097190 9.67 BAX FAS FASLG
10 cellular response to organic substance GO:0071310 9.66 BAX BCL2
11 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.66 FAS FASLG
12 response to gamma radiation GO:0010332 9.65 BAX BCL2
13 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.65 BAX BCL2
14 homeostasis of number of cells within a tissue GO:0048873 9.64 BAX BCL2
15 regulation of mitochondrial membrane potential GO:0051881 9.64 BAX BCL2
16 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.63 BAX BCL2
17 T cell homeostasis GO:0043029 9.62 BCL2 FAS
18 apoptotic mitochondrial changes GO:0008637 9.62 BAX BCL2
19 release of cytochrome c from mitochondria GO:0001836 9.61 BAX BCL2
20 B cell homeostasis GO:0001782 9.61 BAX BCL2
21 extrinsic apoptotic signaling pathway GO:0097191 9.61 BAX FAS FASLG
22 negative regulation of apoptotic signaling pathway GO:2001234 9.6 BAX BCL2
23 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.59 FAS FASLG
24 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.58 BAX BCL2
25 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.58 BAX FAS
26 neuron apoptotic process GO:0051402 9.58 BAX BCL2 FAS
27 renal system process GO:0003014 9.57 BCL2 FAS
28 regulation of protein heterodimerization activity GO:0043497 9.55 BAX BCL2
29 regulation of protein homodimerization activity GO:0043496 9.54 BAX BCL2
30 necroptotic signaling pathway GO:0097527 9.51 FAS FASLG
31 leukocyte homeostasis GO:0001776 9.48 BAX BCL2
32 inflammatory cell apoptotic process GO:0006925 9.46 FAS FASLG
33 retinal cell programmed cell death GO:0046666 9.37 BAX FASLG
34 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.33 BAX BCL2 FAS
35 regulation of nitrogen utilization GO:0006808 9.32 BAX BCL2
36 positive regulation of developmental pigmentation GO:0048087 9.26 BAX BCL2
37 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.13 BAX FAS FASLG
38 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 8.92 BAX BCL2 FAS FASLG

Molecular functions related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 8.96 BAX BCL2
2 BH3 domain binding GO:0051434 8.62 BAX BCL2

Sources for Cartilage-Hair Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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