MCID: CRT002
MIFTS: 58

Cartilage-Hair Hypoplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

MalaCards integrated aliases 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 29
Chh 50 25
Mckusick's Metaphyseal Chondrodysplasia Syndrome 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:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
prevalent in the old order amish in the u.s. and in finland


HPO:

32
cartilage-hair hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



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 metaphyseal dysplasia without hypotrichosis and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including failure to thrive, scoliosis and visual impairment. 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 Akt Signaling. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are hematopoietic system and neoplasm

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 (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. Additional features include ligamentous laxity, defective immunity, hypoplastic anemia, and neuronal dysplasia of the intestine (summary by Ridanpaa et al., 2001). CHH was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious isolate (see also McKusick, 1978), and was later recognized as exceptionally prevalent in the Finnish population (Makitie, 1992). (250250)

Wikipedia : 72 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 57)
id Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia without hypotrichosis 28.1 BAX BCL2 COL10A1 FAS FASLG IL11RA
2 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.4
3 anauxetic dysplasia 1 10.9
4 chondrodysplasia punctata, x-linked dominant 10.8
5 omenn syndrome 10.8
6 moved to 122000 10.4 COL10A1 RMRP
7 ehlers-danlos syndrome, musculocontractural type 2 10.4 COL10A1 RMRP
8 glutaric aciduria iii 10.4 COL10A1 RMRP
9 trigeminal nerve disease 10.1 BAX FASLG
10 mature teratoma 10.1 BAX BCL2
11 dwarfism 10.1
12 congenital hereditary facial paralysis-variable hearing loss syndrome 10.1 BAX BCL2
13 pylorus cancer 10.1 BAX BCL2
14 bronchiectasis 10.0
15 neutropenia 10.0
16 lymphoma 10.0
17 basal cell carcinoma 10.0
18 pulmonary valve disease 10.0 BAX BCL2
19 angelman syndrome due to imprinting defect in 15q11-q13 10.0 BCL2 COL10A1
20 diamond-blackfan anemia 9.9
21 autoimmune hemolytic anemia 9.9
22 hematopoietic stem cell transplantation 9.9
23 hemolytic anemia 9.9
24 trichorhinophalangeal syndrome 9.9
25 severe combined immunodeficiency 9.9
26 hypoganglionosis 9.9
27 thrombosis 9.9
28 autoimmune hypoparathyroidism 9.9
29 portal hypertension 9.9
30 thrombocytopenic purpura, autoimmune 9.9
31 hypoparathyroidism 9.9
32 hodgkin lymphoma 9.9
33 dysostosis 9.9
34 celiac disease 9.9
35 bronchiolitis 9.9
36 purpura 9.9
37 hypotrichosis 9.9
38 wrinkly skin syndrome 9.9
39 poliomyelitis 9.9
40 hypersplenism 9.9
41 juvenile sialidosis type 2 9.9 FAS FASLG
42 gastrointestinal tuberculosis 9.9 FAS FASLG
43 macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations 9.9 FAS FASLG
44 loeffler endocarditis 9.8 FAS FASLG
45 retinitis pigmentosa 9.8 BAX BCL2
46 mixed cell type cancer 9.8 BAX FAS
47 breast adenomyoepithelioma 9.8 FAS FASLG
48 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 9.7 FAS FASLG
49 blood group incompatibility 9.6 BCL2 FAS
50 chondrocalcinosis 9.6 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 via clinical synopsis from OMIM:

54

Hematology:
neutropenia
lymphopenia
macrocytic anemia
congenital hypoplastic anemia

Skin Nails & Hair- Hair:
sparse hair
sparse eyelashes
fine hair
sparse eyebrows
light-colored hair

Skeletal- Limbs:
limited elbow extension
shortened limbs
metaphyseal dysplasia
bowed femurs, mild
tibia shorter than fibula

Head And Neck- Head:
brachycephaly (in some patients)
normocephaly

Chest- Ribs Sternum Clavicles And Scapulae:
anterior angulation of sternum
flaring of lower rib cage

Neoplasia:
increased malignancy risk, especially lymphoma and skin neoplasm

Skeletal- Hands:
short hands
joint hyperextensibility, especially hands, wrist, and feet

Abdomen- Gastroin testinal:
malabsorption
hirschsprung disease
esophageal atresia

Skeletal- Spine:
lumbar lordosis
odontoid hypoplasia, mild (in some patients)
narrowing of interpediculate distances
scoliosis, mild

Growth- Height:
specific growth curves are available
short-limb dwarfism identifiable neonatally
average adult height, 107 to 143 cm
weak or absent pubertal growth spurt

Immunology:
cellular immunodeficiency
susceptibility to complications from viral infections

Laboratory- Abnormalities:
diminished lymphocyte response to phytohemagglutinin


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 failure to thrive 32 hallmark (90%) HP:0001508
2 scoliosis 32 hallmark (90%) HP:0002650
3 visual impairment 32 hallmark (90%) HP:0000505
4 neutropenia 32 hallmark (90%) HP:0001875
5 strabismus 32 hallmark (90%) HP:0000486
6 myopia 32 frequent (33%) HP:0000545
7 cognitive impairment 32 occasional (7.5%) HP:0100543
8 hepatomegaly 32 occasional (7.5%) HP:0002240
9 anemia 32 occasional (7.5%) HP:0001903
10 depressed nasal bridge 32 frequent (33%) HP:0005280
11 lymphopenia 32 HP:0001888
12 prominent forehead 32 frequent (33%) HP:0011220
13 lumbar hyperlordosis 32 HP:0002938
14 tibial bowing 32 hallmark (90%) HP:0002982
15 sparse hair 32 hallmark (90%) HP:0008070
16 anteverted nares 32 occasional (7.5%) HP:0000463
17 pectus carinatum 32 occasional (7.5%) HP:0000768
18 short neck 32 hallmark (90%) HP:0000470
19 narrow chest 32 frequent (33%) HP:0000774
20 cardiomyopathy 32 hallmark (90%) HP:0001638
21 joint hypermobility 32 HP:0001382
22 wide nasal bridge 32 occasional (7.5%) HP:0000431
23 spinal dysraphism 32 hallmark (90%) HP:0010301
24 brachycephaly 32 occasional (7.5%) HP:0000248
25 malabsorption 32 frequent (33%) HP:0002024
26 respiratory insufficiency 32 hallmark (90%) HP:0002093
27 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
28 joint hyperflexibility 32 occasional (7.5%) HP:0005692
29 hypocalcemia 32 hallmark (90%) HP:0002901
30 hyperlordosis 32 hallmark (90%) HP:0003307
31 micromelia 32 hallmark (90%) HP:0002983
32 mesomelia 32 hallmark (90%) HP:0003027
33 rhizomelia 32 hallmark (90%) HP:0008905
34 sparse eyelashes 32 HP:0000653
35 esophageal atresia 32 HP:0002032
36 limited elbow extension 32 hallmark (90%) HP:0001377
37 epicanthus 32 occasional (7.5%) HP:0000286
38 fine hair 32 HP:0002213
39 muscular hypotonia 32 hallmark (90%) HP:0001252
40 lymphoma 32 occasional (7.5%) HP:0002665
41 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
42 metaphyseal widening 32 HP:0003016
43 blue sclerae 32 hallmark (90%) HP:0000592
44 heart block 32 occasional (7.5%) HP:0012722
45 macrocytic anemia 32 HP:0001972
46 impaired lymphocyte transformation with phytohemagglutinin 32 HP:0003347
47 tracheal stenosis 32 hallmark (90%) HP:0002777
48 sacral dimple 32 occasional (7.5%) HP:0000960
49 metaphyseal cupping 32 HP:0003021
50 metaphyseal dysplasia 32 HP:0100255

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 BAX BCL2 COL10A1 FAS FASLG RPS19
2 neoplasm MP:0002006 8.92 BAX BCL2 FAS FASLG

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 Drugs
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, Pancreas, Heart, Eye, Bone Marrow

Publications for Cartilage-Hair Hypoplasia

Articles related to Cartilage-Hair Hypoplasia:

(show top 50) (show all 134)
id Title Authors Year
1
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
2
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. ( 28284971 )
2017
3
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. ( 28094436 )
2017
4
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. ( 28126377 )
2017
5
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia. ( 28631025 )
2017
6
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. ( 27862957 )
2017
7
Decreased telomere length in children with cartilage-hair hypoplasia. ( 27986801 )
2016
8
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 AA >A G Mutation in RMRP Gene. ( 26830278 )
2016
9
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. ( 27568079 )
2016
10
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. ( 27270827 )
2016
11
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family. ( 27740950 )
2016
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
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. ( 26279652 )
2015
15
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. ( 24402619 )
2014
16
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. ( 24009312 )
2014
17
Cartilage Hair Hypoplasia: First report from Iran. ( 24791127 )
2013
18
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. ( 23140882 )
2013
19
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
20
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. ( 24330304 )
2013
21
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. ( 23643676 )
2013
22
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
23
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. ( 23949991 )
2013
24
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. ( 22987807 )
2012
25
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. ( 21396580 )
2011
26
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. ( 21813924 )
2011
27
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. ( 21570718 )
2011
28
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. ( 21714993 )
2011
29
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. ( 20538026 )
2010
30
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. ( 20375313 )
2010
31
Novel mutation in boy with cartilage-hair hypoplasia. ( 21146796 )
2010
32
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
33
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. ( 20112607 )
2009
34
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. ( 19150606 )
2009
35
Cartilage-hair hypoplasia and severe allergy. ( 19394685 )
2009
36
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. ( 19626344 )
2009
37
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. ( 18280853 )
2008
38
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. ( 18540246 )
2008
39
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. ( 18627050 )
2008
40
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. ( 18698627 )
2008
41
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. ( 18280854 )
2008
42
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. ( 18164267 )
2008
43
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. ( 18978468 )
2008
44
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. ( 17701897 )
2007
45
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. ( 17937437 )
2007
46
Cartilage-hair hypoplasia. ( 17628888 )
2007
47
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. ( 16832578 )
2006
48
Bone marrow transplantation for cartilage-hair-hypoplasia. ( 17041608 )
2006
49
RMRP mutations in cartilage-hair hypoplasia. ( 16838329 )
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 33)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 BAX BCL2 COL10A1 FAS FASLG IL11RA
2
Show member pathways
13.16 BAX BCL2 FAS FASLG IL11RA
3
Show member pathways
13.03 BAX BCL2 FAS FASLG IL11RA
4
Show member pathways
12.62 BAX BCL2 FAS FASLG
5
Show member pathways
12.56 BAX BCL2 FAS FASLG
6
Show member pathways
12.54 BAX BCL2 FAS FASLG
7 12.46 BAX BCL2 FAS FASLG
8 12.37 BAX BCL2 FAS FASLG
9
Show member pathways
12.05 BAX BCL2 IL11RA
10
Show member pathways
11.97 BAX BCL2 FAS FASLG
11
Show member pathways
11.94 BAX BCL2 FAS FASLG
12 11.89 BAX BCL2 FAS FASLG
13 11.82 BAX BCL2 FAS
14 11.82 BAX BCL2 FAS
15 11.73 BAX BCL2 FASLG
16
Show member pathways
11.38 BAX BCL2 FAS FASLG
17 11.32 BAX BCL2
18 11.29 BAX BCL2
19 11.29 BCL2 IL11RA
20 11.29 FAS FASLG
21 11.18 FAS FASLG
22
Show member pathways
11.17 BAX BCL2 FAS
23 11.13 BAX BCL2
24 11.12 BAX BCL2 FAS FASLG
25 11.06 BAX BCL2
26
Show member pathways
11.03 BCL2 FAS FASLG
27 11.01 BAX BCL2 FASLG
28 10.96 BAX BCL2
30
Show member pathways
10.93 BAX BCL2
31 10.85 BAX BCL2
32 10.63 BAX BCL2 FAS FASLG
33 10.46 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 39)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.94 BAX BCL2 FAS FASLG
2 positive regulation of apoptotic process GO:0043065 9.85 BAX FAS FASLG
3 regulation of apoptotic process GO:0042981 9.85 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 apoptotic signaling pathway GO:0097190 9.67 BAX FAS FASLG
9 cellular response to organic substance GO:0071310 9.66 BAX BCL2
10 spleen development GO:0048536 9.66 BCL2 FAS
11 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.65 FAS FASLG
12 response to gamma radiation GO:0010332 9.65 BAX BCL2
13 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.65 BAX BCL2
14 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.64 BAX BCL2
15 regulation of mitochondrial membrane potential GO:0051881 9.63 BAX BCL2
16 homeostasis of number of cells within a tissue GO:0048873 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 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.37 BAX
34 retinal cell programmed cell death GO:0046666 9.37 BAX FASLG
35 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.33 BAX BCL2 FAS
36 regulation of nitrogen utilization GO:0006808 9.32 BAX BCL2
37 positive regulation of developmental pigmentation GO:0048087 9.26 BAX BCL2
38 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.13 BAX FAS FASLG
39 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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