MDWH
MCID: MTP003
MIFTS: 27

Metaphyseal Dysplasia Without Hypotrichosis (MDWH)

Categories: Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Metaphyseal Dysplasia Without Hypotrichosis

MalaCards integrated aliases for Metaphyseal Dysplasia Without Hypotrichosis:

Name: Metaphyseal Dysplasia Without Hypotrichosis 57 20 36 29 13 6 70
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis or Immunodeficiency 57 20
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only 57 20
Chhv 57 20
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only; Chhv 57
Dysplasia, Metaphyseal, Without Hypotrichosis 39
Mdwh 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to cartilage-hair hypoplasia


HPO:

31
metaphyseal dysplasia without hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 250460
KEGG 36 H00518
MedGen 41 C1834821
UMLS 70 C1834821

Summaries for Metaphyseal Dysplasia Without Hypotrichosis

KEGG : 36 Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency.

MalaCards based summary : Metaphyseal Dysplasia Without Hypotrichosis, also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency, is related to anauxetic dysplasia 1 and cartilage-hair hypoplasia. An important gene associated with Metaphyseal Dysplasia Without Hypotrichosis is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include bone and thyroid, and related phenotypes are joint laxity and abnormality of the immune system

More information from OMIM: 250460

Related Diseases for Metaphyseal Dysplasia Without Hypotrichosis

Diseases related to Metaphyseal Dysplasia Without Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anauxetic dysplasia 1 31.3 RMRP CCDC107
2 cartilage-hair hypoplasia 29.7 RMRP CCDC107
3 metaphyseal dysplasia 10.4
4 hypotrichosis 10.4
5 granulocytopenia 10.2

Graphical network of the top 20 diseases related to Metaphyseal Dysplasia Without Hypotrichosis:



Diseases related to Metaphyseal Dysplasia Without Hypotrichosis

Symptoms & Phenotypes for Metaphyseal Dysplasia Without Hypotrichosis

Human phenotypes related to Metaphyseal Dysplasia Without Hypotrichosis:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 HP:0001388
2 abnormality of the immune system 31 HP:0002715
3 abnormality of pelvic girdle bone morphology 31 HP:0002644
4 abnormality of the vertebral column 31 HP:0000925
5 genu varum 31 HP:0002970
6 micromelia 31 HP:0002983
7 short metacarpal 31 HP:0010049
8 severe short stature 31 HP:0003510
9 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
10 short long bone 31 HP:0003026
11 metaphyseal dysplasia 31 HP:0100255
12 metaphyseal irregularity 31 HP:0003025
13 metaphyseal cupping of metacarpals 31 HP:0006028
14 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
metaphyseal dysplasia
joint laxity, mild

Skin Nails Hair Hair:
normal hair

Skeletal Pelvis:
normal pelvis

Skeletal Limbs:
short long bones
limb shortening
genu varus
metaphyseal irregularities (distal femora, proximal and distal tibiae, distal radii and ulnae)

Immunology:
no immunodeficiency

Skeletal Hands:
short metacarpals
phalangeal cone-shaped epiphyses
metacarpal/metaphyseal cupping

Skeletal Spine:
normal spine

Growth Height:
disproportionate dwarfism

Head And Neck Face:
normal facies

Clinical features from OMIM®:

250460 (Updated 05-Apr-2021)

Drugs & Therapeutics for Metaphyseal Dysplasia Without Hypotrichosis

Search Clinical Trials , NIH Clinical Center for Metaphyseal Dysplasia Without Hypotrichosis

Genetic Tests for Metaphyseal Dysplasia Without Hypotrichosis

Genetic tests related to Metaphyseal Dysplasia Without Hypotrichosis:

# Genetic test Affiliating Genes
1 Metaphyseal Dysplasia Without Hypotrichosis 29 RMRP

Anatomical Context for Metaphyseal Dysplasia Without Hypotrichosis

MalaCards organs/tissues related to Metaphyseal Dysplasia Without Hypotrichosis:

40
Bone, Thyroid

Publications for Metaphyseal Dysplasia Without Hypotrichosis

Articles related to Metaphyseal Dysplasia Without Hypotrichosis:

(show all 17)
# Title Authors PMID Year
1
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 61 6 57
11940090 2002
2
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. 61 57
2277385 1990
3
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. 6
28094436 2017
4
RMRP mutations in cartilage-hair hypoplasia. 6
16838329 2006
5
The natural history of severe anemia in cartilage-hair hypoplasia. 6
16097009 2005
6
RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 6
14608646 2003
7
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia. 6
14569119 2003
8
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. 6
12888988 2003
9
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 6
11207361 2001
10
Uniparental disomy in cartilage-hair hypoplasia. 6
9156319 1997
11
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea. 61
33303724 2021
12
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations. 61
31413121 2020
13
Genetic variation in thyroid folliculogenesis influences susceptibility to hypothyroidism-induced hearing impairment. 61
30778664 2019
14
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders 61
22420014 2012
15
A modifier gene alleviates hypothyroidism-induced hearing impairment in Pou1f1dw dwarf mice. 61
21840860 2011
16
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 61
17701897 2007
17
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 61
16252239 2005

Variations for Metaphyseal Dysplasia Without Hypotrichosis

ClinVar genetic disease variations for Metaphyseal Dysplasia Without Hypotrichosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RMRP NR_003051.3(RMRP):n.239C>T SNV Pathogenic 577282 rs749667892 GRCh37: 9:35657777-35657777
GRCh38: 9:35657780-35657780
2 RMRP NR_003051.3(RMRP):n.196C>T SNV Pathogenic 633393 rs948931144 GRCh37: 9:35657820-35657820
GRCh38: 9:35657823-35657823
3 RMRP NR_003051.3(RMRP):n.219A>G SNV Pathogenic 580378 rs936059863 GRCh37: 9:35657797-35657797
GRCh38: 9:35657800-35657800
4 RMRP NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC Insertion Pathogenic 14219 rs1554651469 GRCh37: 9:35658022-35658023
GRCh38: 9:35658025-35658026
5 CCDC107 , RMRP NR_003051.3(RMRP):n.71A>G SNV Pathogenic 14208 rs199476103 GRCh37: 9:35657945-35657945
GRCh38: 9:35657948-35657948
6 RMRP NG_017041.1:g.4999_5000insAAGCTGAGGACGAAGCTGAGGACG Microsatellite Pathogenic 14218 GRCh37: 9:35658016-35658017
GRCh38: 9:35658019-35658020
7 CCDC107 , RMRP NR_003051.3(RMRP):n.71A>G SNV Pathogenic 14208 rs199476103 GRCh37: 9:35657945-35657945
GRCh38: 9:35657948-35657948
8 RMRP NR_003051.3(RMRP):n.64C>T SNV Likely pathogenic 189086 rs786204684 GRCh37: 9:35657952-35657952
GRCh38: 9:35657955-35657955
9 RMRP NR_003051.3(RMRP):n.124C>A SNV Uncertain significance 426730 rs758130879 GRCh37: 9:35657892-35657892
GRCh38: 9:35657895-35657895

Expression for Metaphyseal Dysplasia Without Hypotrichosis

Search GEO for disease gene expression data for Metaphyseal Dysplasia Without Hypotrichosis.

Pathways for Metaphyseal Dysplasia Without Hypotrichosis

Pathways related to Metaphyseal Dysplasia Without Hypotrichosis according to KEGG:

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

GO Terms for Metaphyseal Dysplasia Without Hypotrichosis

Sources for Metaphyseal Dysplasia Without Hypotrichosis

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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