RNase MRP
Diseases associated with RNAse MRP gene
Metaphyseal dysplasia without hypotrichosis (MDWH), anauxetic dysplasia (AD), kyphomelic dysplasia (KD), Omenn syndrome (OS) are diseases associated with mutated and (or) dysfunctional RNAse MRP activity, hence, the RMRP gene.

RNase MRP

Section Title: Diseases associated with RNAse MRP gene
Table Section Text: Metaphyseal dysplasia without hypotrichosis (MDWH), anauxetic dysplasia (AD), kyphomelic dysplasia (KD), Omenn syndrome (OS) are diseases associated with mutated and (or) dysfunctional RNAse MRP activity, hence, the RMRP gene.

Disease	Abbreviation	Location of mutation	Mutation in RNAse MRP protein or RNA in RNAse MRP?	Symptoms

Cartilage–hair hypoplasia	CHH	1.Insertion, duplication or triplication at promoter or 2. In RNA transcribed by RNAse MRP	RNA in RNAse MRP	Patients have short stature, skeletal anomalies, blood and immune problems, and fine, light-colored hair

Metaphyseal dysplasia without hypotrichosis	MDWH	1. on RMRP Gene-->common insertion being -21-20insTCTGTGAAGCTGGGGAC on paternal allele or 2. 218A-->G point mutation occurring on maternal allele	RNA in RNAse MRP	Patients unable to produce new tubular structures in metaphyses of long bones. This results in porous and expanded long bones

Anauxetic dysplasia	AD	Homozygous insertion mutation and two compound heterozygous mutations	RNA in RNAse MRP	Early onset of extremely short stature. Adults typically not exceeding 85 cm in height.

Kyphomelic dysplasia	KD	Mutation (insertion) of T at 194-195 paternal allele and a 63 C-->T point mutation of the maternal allele.	Undetermined	Form of short-limbed dwarfism. Bowing long bones, dysmorphia, flattened vertebrae, and short ribs.

Omenn Syndrome	OS	Three mutations in RMRP gene (specifics unknown at this time)	RNA in RNAse MRP	Patients are immunodeficient and have scaly erythroderma and severe reddening of skin.

Sentence(s)

A mutation (insertion) of T at 194-195 paternal allele and a 63C-->T point mutation of the maternal allele have been discovered in the RMRP gene with Kyphomelic dysplasia (KD).

final_sentence: A mutation (insertion) of T at 194-195 paternal allele and a 63C-->T point mutation of the maternal allele have been discovered in the RMRP gene with Kyphomelic dysplasia (KD).