Murcs Association malady

NIH Rare Diseases:⁴² Murcs association stands for (mu)llerian, (r)enal, (c)ervicothoracic (s)omite abnormalities and is a developmental disorder that primarily affects the reproductive and urinary systems.  most individuals with murcs association are female, although males can also have this condition.  females with murcs association can have an absent or abnormally shaped uterus. in rare cases, the vagina is also affected. both males and females with murcs association can have absent or abnormally formed reproductive tubes (usually the fallopian tubes in females and the vas deferens in males), kidney abnormalities, and short stature (adult height of less than 5 feet). additional symptoms might include fused spinal bones in the neck and upper back and hearing loss. these symptoms may vary from person to person.  murcs association is present at birth but may not be noticed until after puberty, especially when an affected female does not receive her first period.  this condition does not alter a person’s life expectancy. last updated: 4/6/2011

MalaCards based summary: Murcs Association, also known as mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies, is related to encephalocele and vacterl association, and has symptoms including abnormality of female internal genitalia, short neck and low posterior hairline. An important gene associated with Murcs Association is TBX6 (T-box 6), and among its related pathways is Neural Crest Differentiation. The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and bone, and related mouse phenotypes are renal/urinary system and craniofacial.

Description from OMIM:⁴⁶ 601076

External Ids:

OMIM46 601076 ICD10 via Orphanet27 Q87.8

UMLS via Orphanet62 C1832817

Symptoms by clinical synopsis from OMIM:

601076

Clinical features from OMIM:

601076

Symptoms:

 ⁴⁸ (show all 11)

short neck vertebral segmentation anomaly/hemivertebrae low hair line (back) agenesis/hypoplasia/aplasia of kidneys ectopic/horseshoe/fused kidneys uterine/uterus/fallopian tubes anomalies

late puberty/hypogonadism/hypogenitalism short stature/dwarfism/nanism anomalies of the ribs scapula structural/position anomaly/congenital elevation/sprengel anomaly hearing loss/hypoacusia/deafness

HPO human phenotypes related to Murcs Association:

(show all 26)

id	Description	Frequency	HPO Source Accession
1	abnormality of female internal genitalia	hallmark (90%)	HP:0000008
2	short neck	hallmark (90%)	HP:0000470
3	low posterior hairline	hallmark (90%)	HP:0002162
4	vertebral segmentation defect	hallmark (90%)	HP:0003422
5	short stature	hallmark (90%)	HP:0004322
6	renal hypoplasia/aplasia	hallmark (90%)	HP:0008678
7	abnormal localization of kidney	hallmark (90%)	HP:0100542
8	abnormality of the ribs	typical (50%)	HP:0000772
9	sprengel anomaly	typical (50%)	HP:0000912
10	hearing impairment	occasional (7.5%)	HP:0000365
11	hypoplasia of the uterus		HP:0000013
12	azoospermia		HP:0000027
13	ectopic kidney		HP:0000086
14	renal agenesis		HP:0000104
15	cleft palate		HP:0000175
16	cleft upper lip		HP:0000204
17	facial asymmetry		HP:0000324
18	micrognathia		HP:0000347
19	conductive hearing impairment		HP:0000405
20	abnormality of the ribs		HP:0000772
21	bicornuate uterus		HP:0000813
22	sprengel anomaly		HP:0000912
23	abnormality of the vertebral column		HP:0000925
24	cerebellar cyst		HP:0002350
25	sporadic		HP:0003745
26	short stature		HP:0004322

Search GEO for disease gene expression data for Murcs Association.