CHH
MCID: CRT002
MIFTS: 60

Cartilage-Hair Hypoplasia (CHH)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

MalaCards integrated aliases for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 57 12 73 20 43 58 36 13 54 44 15 39 70
Metaphyseal Chondrodysplasia, Mckusick Type 57 12 43 58 29 6
Chh 57 12 20 43
Mckusick Type Metaphyseal Chondrodysplasia 12 73
Mckusick's Metaphyseal Chondrodysplasia Syndrome 43
Autosomal Recessive Metaphyseal Chondrodysplasia 58
Metaphyseal Chondrodysplasia, Recessive Type 43
Metaphyseal Chondrodysplasia Mckusick Type 20
Cartilage Hair Hypoplasia Like Syndrome 20
Cartilage-Hair Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
cartilage-hair hypoplasia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Finland); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
cartilage-hair hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Cartilage-Hair Hypoplasia

MedlinePlus Genetics : 43 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.People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations in the cartilage near the ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. Most people with cartilage-hair hypoplasia are unusually flexible in some joints, but they may have difficulty extending their elbows fully.Affected individuals have hair that is lighter in color than that of other family members because the core of each hair, which contains some of the pigment that contributes the hair's color, is missing. The missing core also makes each strand of hair thinner, causing the hair to have a sparse appearance overall. Unusually light-colored skin (hypopigmentation), malformed nails, and dental abnormalities may also be seen in this disorder.The extent of the immune deficiency in cartilage-hair hypoplasia varies from mild to severe. Affected individuals with the most severe immune problems are considered to have severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi and are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Most people with cartilage-hair hypoplasia, even those who have milder immune deficiency, experience infections of the respiratory system, ears, and sinuses. In particular, the chicken pox virus (varicella) often causes dangerous infections in people with this disorder. Autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs, occur in some people with cartilage-hair hypoplasia. Affected individuals are also at an increased risk of developing cancer, particularly certain skin cancers (basal cell carcinomas), cancer of blood-forming cells (leukemia), and cancer of immune system cells (lymphoma).Some people with cartilage-hair hypoplasia experience gastrointestinal problems. These problems may include an inability to properly absorb nutrients or intolerance of a protein called gluten found in wheat and other grains (celiac disease). Affected individuals may have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus (esophageal atresia) may also occur.

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. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Gene Expression. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye, bone and colon, and related phenotypes are failure to thrive and eeg abnormality

Disease Ontology : 12 An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has material basis in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3.

GARD : 20 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.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, anemia, an increased incidence of cancer, and congenital immunodeficiency. Mutations in the RMRP gene that codes for an RNA subunit of the RNase MRP complex are the cause of CHH.

Wikipedia : 73 Cartilage-hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism... 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 137)
# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia without hypotrichosis 33.3 RMRP CCDC107
2 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 33.0 RMRP LAMA2
3 anauxetic dysplasia 1 32.2 RMRP CCDC107
4 osteochondrodysplasia 31.4 SMARCA2 RMRP H2AC18 COL10A1
5 burkitt lymphoma 30.2 FAS DNMT1 BCL2 BAX
6 chondrodysplasia punctata 2, x-linked dominant 11.0
7 autosomal recessive disease 10.6
8 combined immunodeficiency 10.6
9 dwarfism 10.6
10 metaphyseal dysplasia 10.6
11 hirschsprung disease 1 10.5
12 immune deficiency disease 10.4
13 severe combined immunodeficiency 10.4
14 kashin-beck disease 10.4 FAS BCL2 BAX
15 schizophrenia 7 10.4 SMARCA2 H2AC18
16 hypotrichosis 10.4
17 acute myocarditis 10.4 H2AC18 FASLG FAS
18 lymphocytic gastritis 10.4 FASLG FAS
19 lymphosarcoma 10.4 DNMT3A DNMT1 BCL2
20 hypersensitivity reaction type iv disease 10.4 H2AC18 FASLG FAS
21 absolute glaucoma 10.4 BCL2 BAX
22 ichthyosis, congenital, autosomal recessive 11 10.4 H2AZ1 H2AC18 FAM221B
23 neuropathy, hereditary sensory, type ie 10.4 TRDMT1 DNMT3A DNMT1
24 floating-harbor syndrome 10.4 SMARCA2 H2AZ1 H2AC18
25 adult syndrome 10.4 H2AC18 DNMT3A DNMT1
26 mature t-cell and nk-cell lymphoma 10.4 H3-2 H2AC18 DNMT3A
27 chromosome 16p13.3 deletion syndrome, proximal 10.4 SMARCA2 H3-2 H2AC18
28 sotos syndrome 1 10.4 H3-2 H2AC18 DNMT3A
29 testicular spermatocytic seminoma 10.4 H2AZ1 DNMT3A
30 weaver syndrome 10.4 H3-2 H2AC18 DNMT3A
31 carbohydrate metabolic disorder 10.4 H3-2 H2AC18 DNMT1
32 lymphopenia 10.3
33 bronchiectasis 10.3
34 hyperoxaluria, primary, type i 10.3 H3-2 H2AC18 DNMT3A DNMT1
35 alpha thalassemia-x-linked intellectual disability syndrome 10.3 SMARCA2 H3-2 H2AC18 DNMT3A
36 fuchs' endothelial dystrophy 10.3 FASLG BCL2 BAX
37 juvenile type testicular granulosa cell tumor 10.3 SMARCA2 DICER1
38 breast adenocarcinoma 10.3 H2AC18 FAS BCL2 BAX
39 breast disease 10.3 H2AC18 FASLG BCL2 BAX
40 trypanosomiasis 10.3 H2AC18 FASLG FAS
41 digeorge syndrome 10.3 RMRP H2AC18 FAS DICER1 BCL2
42 testicular granulosa cell tumor 10.3 SMARCA2 DICER1
43 aplastic anemia 10.3 RPS19 H2AC18 FASLG FAS BAX
44 neutropenia 10.3
45 basal cell carcinoma 10.3
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
47 deficiency anemia 10.2
48 t cell deficiency 10.2
49 diamond-blackfan anemia 10.2
50 dysostosis 10.2

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



Diseases related to Cartilage-Hair Hypoplasia

Symptoms & Phenotypes for Cartilage-Hair Hypoplasia

Human phenotypes related to Cartilage-Hair Hypoplasia:

58 31 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
5 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
6 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
7 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
8 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
9 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
10 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
11 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
12 abnormal cardiac septum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001671
13 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
14 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
15 high hypermetropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008499
16 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
17 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
18 abnormal distal phalanx morphology of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009832
19 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
20 abnormally ossified vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0100569
21 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
22 spinal dysraphism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010301
23 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
24 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
25 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
26 abnormality of the pancreas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001732
27 tracheal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002777
28 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
29 tibial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002982
30 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
31 metaphyseal chondrodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005871
32 limited elbow extension 58 31 hallmark (90%) Very frequent (99-80%) HP:0001377
33 biconvex vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004625
34 hypotonia 31 hallmark (90%) HP:0001252
35 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
36 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
37 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
38 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
39 mucopolysacchariduria 58 31 frequent (33%) Frequent (79-30%) HP:0008155
40 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
41 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
42 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
43 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
44 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
45 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
46 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
47 flaring of lower rib cage 58 31 frequent (33%) Frequent (79-30%) HP:0006589
48 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
49 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
50 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
malabsorption
esophageal atresia
hirschsprung disease

Immunology:
cellular immunodeficiency
susceptibility to complications from viral infections

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

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

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

Neoplasia:
increased malignancy risk, especially lymphoma and skin neoplasm

Hematology:
lymphopenia
neutropenia
macrocytic anemia
congenital hypoplastic anemia

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

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

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

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

Laboratory Abnormalities:
diminished lymphocyte response to phytohemagglutinin

Clinical features from OMIM®:

250250 (Updated 20-May-2021)

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.64 LAMA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-108 9.64 DICER1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.64 DICER1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-131 9.64 LAMA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.64 DICER1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.64 LAMA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.64 POP5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-158 9.64 POP5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.64 LAMA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.64 AGO4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.64 LAMA2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.64 DICER1 POP5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 9.64 POP5
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.64 POP5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.64 DICER1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.64 LAMA2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.64 POP5
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.64 AGO4
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.64 LAMA2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.64 AGO4

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 AGO4 BAX BCL2 COL10A1 DICER1 DNMT1
2 endocrine/exocrine gland MP:0005379 10 AGO4 BAX BCL2 COL10A1 DICER1 DNMT3A
3 hematopoietic system MP:0005397 9.9 BAX BCL2 COL10A1 DICER1 DNMT1 DNMT3A
4 neoplasm MP:0002006 9.5 BAX BCL2 DICER1 DNMT1 FAS FASLG
5 reproductive system MP:0005389 9.36 AGO4 BAX BCL2 DICER1 DNMT1 DNMT3A

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Active, not recruiting NCT02383797 Phase 4

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:

# Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Mckusick Type 29 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

40
Eye, Bone, Colon, Pancreas, Skin, Heart, Breast

Publications for Cartilage-Hair Hypoplasia

Articles related to Cartilage-Hair Hypoplasia:

(show top 50) (show all 251)
# Title Authors PMID Year
1
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 57 6 61 54
16832578 2006
2
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 6 57 61 54
11940090 2002
3
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. 61 6 57
28094436 2017
4
The natural history of severe anemia in cartilage-hair hypoplasia. 61 6 57
16097009 2005
5
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 6 61 57
11207361 2001
6
Uniparental disomy in cartilage-hair hypoplasia. 61 6 57
9156319 1997
7
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 54 6 61
19626344 2009
8
RNase MRP RNA and human genetic diseases. 6 61 54
17189938 2007
9
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. 54 61 6
17015150 2006
10
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 61 6 54
16244706 2005
11
RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 61 6 54
14608646 2003
12
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia. 61 54 6
14569119 2003
13
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females. 61 57
30561899 2019
14
Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation. 61 6
28743979 2017
15
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. 61 6
27862957 2017
16
[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases]. 6 61
25616543 2015
17
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 61 6
25663137 2015
18
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. 57 61
24217815 2014
19
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 61 6
21570718 2011
20
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 6 61
21396580 2011
21
Novel mutation in boy with cartilage-hair hypoplasia. 6 61
21146796 2010
22
RNase MRP and disease. 61 6
21956908 2010
23
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 61 6
20375313 2010
24
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. 61 6
21063072 2010
25
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. 61 6
20112607 2009
26
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 61 6
18804272 2008
27
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. 61 57
18698627 2008
28
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. 61 57
18280853 2008
29
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. 61 57
18280854 2008
30
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. 6 61
18164267 2008
31
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 6 61
17937437 2007
32
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 6 61
17701897 2007
33
RMRP mutations in cartilage-hair hypoplasia. 61 6
16838329 2006
34
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 6 61
16254002 2005
35
An effective case of growth hormone treatment on cartilage-hair hypoplasia. 61 6
15780958 2005
36
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. 6 61
12888988 2003
37
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 6 61
12107819 2002
38
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. 57 61
11370774 2001
39
Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM *250250) 57 61
11043437 2000
40
Radiologic changes in infancy in McKusick cartilage hair hypoplasia. 57 61
10494084 1999
41
Increased incidence of cancer in patients with cartilage-hair hypoplasia. 61 57
10064668 1999
42
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. 61 57
9809821 1998
43
Locus homogeneity for cartilage-hair hypoplasia proven? 61 57
7649562 1995
44
Genetic homogeneity of cartilage-hair hypoplasia. 57 61
7860061 1995
45
Cartilage-hair hypoplasia. 61 57
7897625 1995
46
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. 61 57
7977356 1994
47
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. 57 61
8034306 1994
48
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. 57 61
7981754 1993
49
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. 57 61
8444246 1993
50
Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia. 61 57
1290847 1992

Variations for Cartilage-Hair Hypoplasia

ClinVar genetic disease variations for Cartilage-Hair Hypoplasia:

6 (show top 50) (show all 202)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RMRP NR_003051.3(RMRP):n.-6_-5insCCTGAG Insertion Pathogenic 14213 rs1554651446 GRCh37: 9:35658020-35658021
GRCh38: 9:35658023-35658024
2 RMRP NR_003051.3(RMRP):n.-14_3dup Duplication Pathogenic 14221 rs878853178 GRCh37: 9:35658012-35658013
GRCh38: 9:35658015-35658016
3 RMRP NR_003051.3(RMRP):n.97_98dup Duplication Pathogenic 465213 rs1340624774 GRCh37: 9:35657917-35657918
GRCh38: 9:35657920-35657921
4 RMRP NR_003051.3(RMRP):n.-19_-3dup Duplication Pathogenic 14214 rs727502778 GRCh37: 9:35658017-35658018
GRCh38: 9:35658020-35658021
5 RMRP NR_003051.3(RMRP):n.195dup Duplication Pathogenic 14223 rs796065036 GRCh37: 9:35657820-35657821
GRCh38: 9:35657823-35657824
6 RMRP NR_003051.3(RMRP):n.263G>T SNV Pathogenic 14209 rs727502774 GRCh37: 9:35657753-35657753
GRCh38: 9:35657756-35657756
7 RMRP NR_003051.3(RMRP):n.147G>A SNV Pathogenic 379208 rs753874439 GRCh37: 9:35657869-35657869
GRCh38: 9:35657872-35657872
8 RMRP NR_003051.3(RMRP):n.5C>T SNV Pathogenic 552477 rs772443941 GRCh37: 9:35658011-35658011
GRCh38: 9:35658014-35658014
9 RMRP NR_003051.3(RMRP):n.-13_1dup14 Duplication Pathogenic 633396 rs1554651373 GRCh37: 9:35658014-35658015
GRCh38: 9:35658017-35658018
10 RMRP NR_003051.3(RMRP):n.219A>G SNV Pathogenic 580378 rs936059863 GRCh37: 9:35657797-35657797
GRCh38: 9:35657800-35657800
11 RMRP NR_003051.3(RMRP):n.-24_-4dup Duplication Pathogenic 632969 rs1563907883 GRCh37: 9:35658018-35658019
GRCh38: 9:35658021-35658022
12 RMRP NR_003051.3(RMRP):n.196C>T SNV Pathogenic 633393 rs948931144 GRCh37: 9:35657820-35657820
GRCh38: 9:35657823-35657823
13 CCDC107 , RMRP NR_003051.3(RMRP):n.71A>G SNV Pathogenic 14208 rs199476103 GRCh37: 9:35657945-35657945
GRCh38: 9:35657948-35657948
14 CCDC107 , RMRP NR_003051.3(RMRP):n.71A>G SNV Pathogenic 14208 rs199476103 GRCh37: 9:35657945-35657945
GRCh38: 9:35657948-35657948
15 RMRP NR_003051.3(RMRP):n.-22_-3dup Duplication Pathogenic/Likely pathogenic 550387 rs1554651411 GRCh37: 9:35658017-35658018
GRCh38: 9:35658020-35658021
16 RMRP NR_003051.3(RMRP):n.-24_-18dup Duplication Pathogenic/Likely pathogenic 553917 rs1554651543 GRCh37: 9:35658032-35658033
GRCh38: 9:35658035-35658036
17 RMRP NR_003051.3(RMRP):n.64C>T SNV Pathogenic/Likely pathogenic 189086 rs786204684 GRCh37: 9:35657952-35657952
GRCh38: 9:35657955-35657955
18 RMRP NR_003051.3(RMRP):n.-7_1dup Duplication Pathogenic/Likely pathogenic 487440 rs752934195 GRCh37: 9:35658014-35658015
GRCh38: 9:35658017-35658018
19 RMRP NR_003051.3(RMRP):n.243A>G SNV Likely pathogenic 487451 rs551450545 GRCh37: 9:35657773-35657773
GRCh38: 9:35657776-35657776
20 RMRP NR_003051.3(RMRP):n.-18_-2dup17 Duplication Likely pathogenic 551341 rs1587919165 GRCh37: 9:35658016-35658017
GRCh38: 9:35658019-35658020
21 RMRP NR_003051.3(RMRP):n.-25_-8dup18 Duplication Likely pathogenic 551985 rs1554651473 GRCh37: 9:35658022-35658023
GRCh38: 9:35658025-35658026
22 RMRP NR_003051.3(RMRP):n.-18_-8dup11 Duplication Likely pathogenic 554401 rs1230629953 GRCh37: 9:35658022-35658023
GRCh38: 9:35658025-35658026
23 RMRP NR_003051.3(RMRP):n.-23_-5dup19 Duplication Likely pathogenic 558582 rs1554651428 GRCh37: 9:35658019-35658020
GRCh38: 9:35658022-35658023
24 RMRP NR_003051.3(RMRP):n.-16_-4dup13 Duplication Likely pathogenic 551626 rs1554651422 GRCh37: 9:35658018-35658019
GRCh38: 9:35658021-35658022
25 RMRP NR_003051.3(RMRP):n.-14_-2dup13 Duplication Likely pathogenic 632968 rs1554651400 GRCh37: 9:35658016-35658017
GRCh38: 9:35658019-35658020
26 RMRP NR_003051.3(RMRP):n.212C>G SNV Likely pathogenic 632970 rs192060920 GRCh37: 9:35657804-35657804
GRCh38: 9:35657807-35657807
27 RMRP NR_003051.3(RMRP):n.-22_-15dupTACTCTGT Duplication Likely pathogenic 632971 rs1563908212 GRCh37: 9:35658029-35658030
GRCh38: 9:35658032-35658033
28 RMRP NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG Insertion Likely pathogenic 917546 GRCh37: 9:35658020-35658021
GRCh38: 9:35658023-35658024
29 RMRP NR_003051.3(RMRP):n.-17_-3dup15 Duplication Likely pathogenic 918169 GRCh37: 9:35658017-35658018
GRCh38: 9:35658020-35658021
30 RMRP NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC Insertion Likely pathogenic 918170 GRCh37: 9:35658033-35658034
GRCh38: 9:35658036-35658037
31 RMRP NR_003051.3(RMRP):n.181G>A SNV Likely pathogenic 928881 GRCh37: 9:35657835-35657835
GRCh38: 9:35657838-35657838
32 RMRP NR_003051.3(RMRP):n.-15_-6dup Duplication Likely pathogenic 929120 GRCh37: 9:35658020-35658021
GRCh38: 9:35658023-35658024
33 RMRP NR_003051.3(RMRP):n.-22_-11dup Duplication Likely pathogenic 929122 GRCh37: 9:35658025-35658026
GRCh38: 9:35658028-35658029
34 RMRP NR_003051.3(RMRP):n.-27_-6dup22 Duplication Likely pathogenic 974952 GRCh37: 9:35658020-35658021
GRCh38: 9:35658023-35658024
35 RMRP NR_003051.3(RMRP):n.-20_-7dup14 Duplication Likely pathogenic 974953 GRCh37: 9:35658021-35658022
GRCh38: 9:35658024-35658025
36 RMRP NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA Insertion Likely pathogenic 974963 GRCh37: 9:35658021-35658022
GRCh38: 9:35658024-35658025
37 RMRP NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA Insertion Likely pathogenic 974997 GRCh37: 9:35658020-35658021
GRCh38: 9:35658023-35658024
38 RMRP NR_003051.3(RMRP):n.-17_-5dup13 Duplication Likely pathogenic 984455 GRCh37: 9:35658019-35658020
GRCh38: 9:35658022-35658023
39 RMRP NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC Microsatellite Likely pathogenic 984521 GRCh37: 9:35658024-35658025
GRCh38: 9:35658027-35658028
40 RMRP NR_003051.3(RMRP):n.-20_-2dup Duplication Likely pathogenic 554533 rs1554651404 GRCh37: 9:35658016-35658017
GRCh38: 9:35658019-35658020
41 RMRP NR_003051.3(RMRP):n.-21_-2dup Duplication Likely pathogenic 555121 rs1554651403 GRCh37: 9:35658016-35658017
GRCh38: 9:35658019-35658020
42 RMRP NR_003051.3(RMRP):n.-22_-4dup Duplication Likely pathogenic 555417 rs1554651427 GRCh37: 9:35658018-35658019
GRCh38: 9:35658021-35658022
43 RMRP NR_003051.3(RMRP):n.-23_-10dup Duplication Likely pathogenic 555707 rs1554651489 GRCh37: 9:35658024-35658025
GRCh38: 9:35658027-35658028
44 RMRP NR_003051.3(RMRP):n.-22_-6dup Duplication Likely pathogenic 556306 rs727502777 GRCh37: 9:35658020-35658021
GRCh38: 9:35658023-35658024
45 RMRP NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA Duplication Likely pathogenic 556583 rs1554651425 GRCh37: 9:35658018-35658019
GRCh38: 9:35658021-35658022
46 RMRP NR_003051.3(RMRP):n.-26_-10dup Duplication Likely pathogenic 552639 rs1554651491 GRCh37: 9:35658024-35658025
GRCh38: 9:35658027-35658028
47 RMRP NR_003051.3(RMRP):n.-18_-1dup Duplication Likely pathogenic 552761 rs1554651396 GRCh37: 9:35658015-35658016
GRCh38: 9:35658018-35658019
48 RMRP NR_003051.3(RMRP):n.-13_-2dup Duplication Likely pathogenic 551168 rs1554651400 GRCh37: 9:35658016-35658017
GRCh38: 9:35658019-35658020
49 RMRP NR_003051.3(RMRP):n.-20_-3dup Duplication Likely pathogenic 557000 rs1554651418 GRCh37: 9:35658017-35658018
GRCh38: 9:35658020-35658021
50 RMRP NR_003051.3(RMRP):n.-23_-13dup Duplication Likely pathogenic 557339 rs1554651513 GRCh37: 9:35658027-35658028
GRCh38: 9:35658030-35658031

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 KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 TRDMT1 RPS19 POP5 H2AZ1 H2AC18 FAS
2 12.68 LAMA2 FASLG FAS BCL2 BAX
3 12.38 DNMT3A DNMT1 DICER1 BCL2
4 12.26 SMARCA2 H2AZ1 DNMT3A DNMT1
5
Show member pathways
12.07 FASLG FAS BCL2 BAX
6 12.05 FASLG FAS BCL2 BAX
7
Show member pathways
11.99 FASLG FAS BCL2 BAX
8 11.84 FASLG BCL2 BAX
9 11.72 LAMA2 BCL2 BAX
10 11.69 SMARCA2 H2AZ1 DNMT1
11 11.6 SMARCA2 H2AZ1 BCL2
12
Show member pathways
11.48 FASLG FAS BCL2 BAX
13
Show member pathways
11.35 TRDMT1 DNMT3A DNMT1
14
Show member pathways
11.33 H2AZ1 H2AC18 FASLG FAS BCL2 BAX
15 11.32 FASLG FAS BCL2 BAX
16
Show member pathways
11.24 FAS BCL2 BAX
17
Show member pathways
11.14 FASLG FAS BCL2
18 10.96 FASLG FAS BCL2 BAX
19 10.88 LAMA2 FASLG COL10A1 BCL2 BAX
20 10.84 DNMT3A DNMT1 BCL2
21 10.52 BCL2 BAX

GO Terms for Cartilage-Hair Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 nucleosome GO:0000786 9.54 H3-2 H2AZ1 H2AC18
2 RISC complex GO:0016442 9.32 DICER1 AGO4
3 pore complex GO:0046930 9.26 BCL2 BAX
4 RISC-loading complex GO:0070578 9.16 DICER1 AGO4
5 ribonuclease MRP complex GO:0000172 8.96 RMRP POP5
6 heterochromatin GO:0000792 8.8 H2AZ1 DNMT3A DNMT1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.79 BCL2 BAX AGO4
2 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.74 FASLG FAS BAX
3 response to toxic substance GO:0009636 9.73 DNMT3A BCL2 BAX
4 apoptotic signaling pathway GO:0097190 9.71 FASLG FAS BAX
5 extrinsic apoptotic signaling pathway GO:0097191 9.63 FASLG FAS BAX
6 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.61 FASLG FAS
7 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.61 BCL2 BAX
8 apoptotic mitochondrial changes GO:0008637 9.6 BCL2 BAX
9 production of miRNAs involved in gene silencing by miRNA GO:0035196 9.59 DICER1 AGO4
10 miRNA metabolic process GO:0010586 9.58 DICER1 AGO4
11 pre-miRNA processing GO:0031054 9.58 DICER1 AGO4
12 RNA phosphodiester bond hydrolysis GO:0090501 9.58 RMRP POP5 DICER1
13 production of siRNA involved in RNA interference GO:0030422 9.55 RMRP DICER1
14 necroptotic signaling pathway GO:0097527 9.52 FASLG FAS
15 miRNA loading onto RISC involved in gene silencing by miRNA GO:0035280 9.51 DICER1 AGO4
16 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.5 FAS BCL2 BAX
17 leukocyte homeostasis GO:0001776 9.49 BCL2 BAX
18 DNA methylation involved in embryo development GO:0043045 9.48 DNMT3A DNMT1
19 C-5 methylation of cytosine GO:0090116 9.43 DNMT3A DNMT1
20 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.43 FASLG BCL2 BAX
21 DNA methylation on cytosine GO:0032776 9.37 DNMT3A DNMT1
22 positive regulation of developmental pigmentation GO:0048087 9.16 BCL2 BAX
23 retinal cell programmed cell death GO:0046666 8.96 FASLG BAX
24 regulation of nitrogen utilization GO:0006808 8.62 BCL2 BAX

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

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.55 H3-2 H2AZ1 H2AC18 BCL2 BAX
2 BH3 domain binding GO:0051434 9.26 BCL2 BAX
3 DNA-methyltransferase activity GO:0009008 8.96 DNMT3A DNMT1
4 DNA (cytosine-5-)-methyltransferase activity GO:0003886 8.62 DNMT3A DNMT1

Sources for Cartilage-Hair Hypoplasia

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