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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Coffin-Lowry Syndrome (D038921)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2461

Name:

Coffin-Lowry Syndrome

Definition:

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Alternative IDs:

OMIM:303600

ParentIDs:

MESH:D038901

TreeNumbers:

C10.597.606.643.455.249 |C16.320.322.500.249 |C16.320.400.525.249

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D038921
MeSH: D038921
OMIM: 303600;

Genes: RPS6KA3;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001595	Abnormal hair morphology
3	HP:0000429	Abnormality of the nasal alae
4	HP:0000463	Anteverted nares
5	HP:0010309	Bifid sternum
6	HP:0001169	Broad palm
7	HP:0000280	Coarse facial features
8	HP:0002208	Coarse hair
9	HP:0002673	Coxa valga
10	HP:0000973	Cutis laxa
11	HP:0000965	Cutis marmorata
12	HP:0004325	Decreased body weight
13	HP:0001476	Delayed closure of the anterior fontanelle
14	HP:0002750	Delayed skeletal maturation
15	HP:0000689	Dental malocclusion
16	HP:0000494	Downslanted palpebral fissures
17	HP:0006129	Drumstick terminal phalanges
18	HP:0000232	Everted lower lip vermilion
19	HP:0001290	Generalized hypotonia
20	HP:0000218	High palate
21	HP:0002553	Highly arched eyebrow
22	HP:0001812	Hyperconvex fingernails
23	HP:0001187	Hyperextensibility of the finger joints
24	HP:0000316	Hypertelorism
25	HP:0000668	Hypodontia
26	HP:0001252	Hypotonia
27	HP:0000023	Inguinal hernia
28	HP:0001249	Intellectual disability
29	HP:0002808	Kyphosis
30	HP:0008454	Lumbar kyphosis
31	HP:0000303	Mandibular prognathia
32	HP:0000252	Microcephaly
33	HP:0001653	Mitral regurgitation
34	HP:0002868	Narrow iliac wing
35	HP:0000189	Narrow palate
36	HP:0000194	Open mouth
37	HP:0000768	Pectus carinatum
38	HP:0000767	Pectus excavatum
39	HP:0001763	Pes planus
40	HP:0000336	Prominent supraorbital ridges
41	HP:0000411	Protruding ear
42	HP:0002035	Rectal prolapse
43	HP:0002650	Scoliosis
44	HP:0001250	Seizure
45	HP:0000407	Sensorineural hearing impairment
46	HP:0010049	Short metacarpal
47	HP:0004322	Short stature
48	HP:0000954	Single transverse palmar crease
49	HP:0003745	Sporadic
50	HP:0001182	Tapered finger
51	HP:0000506	Telecanthus
52	HP:0000574	Thick eyebrow
53	HP:0009746	Thick nasal septum
54	HP:0002684	Thickened calvaria
55	HP:0000139	Uterine prolapse
56	HP:0002119	Ventriculomegaly
57	HP:0000445	Wide nose
58	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004586.2(RPS6KA3):c.2186G>A (p.Arg729Gln)	6197	RPS6KA3	Pathogenic	28935171	RCV000012424;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20173553	20173553	NM_004586.2:c.2186G>A	NP_004577.1:p.Arg729Gln	NC_000023.10:g.20173553C>T	OMIM Allelic Variant:300075.0009	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.2065C>T (p.Gln689Ter)	6197	RPS6KA3	Pathogenic	122454128	RCV000012423;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20174262	20174262	NM_004586.2:c.2065C>T	NP_004577.1:p.Gln689Ter	NC_000023.10:g.20174262G>A	OMIM Allelic Variant:300075.0008	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.913C>T (p.Arg305Ter)	6197	RPS6KA3	Pathogenic	869320705	RCV000210889;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20195135	20195135	NM_004586.2:c.913C>T	NP_004577.1:p.Arg305Ter	NC_000023.10:g.20195135G>A	-	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.803T>C (p.Phe268Ser)	6197	RPS6KA3	Pathogenic	122454131	RCV000012432;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20204456	20204456	NM_004586.2:c.803T>C	NP_004577.1:p.Phe268Ser	NC_000023.10:g.20204456A>G	OMIM Allelic Variant:300075.0017	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.679T>G (p.Ser227Ala)	6197	RPS6KA3	Pathogenic	122454125	RCV000012418;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20206041	20206041	NM_004586.2:c.679T>G	NP_004577.1:p.Ser227Ala	NC_000023.10:g.20206041A>C	OMIM Allelic Variant:300075.0003	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.566T>A (p.Ile189Lys)	6197	RPS6KA3	Pathogenic	122454130	RCV000012426;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20211632	20211632	NM_004586.2:c.566T>A	NP_004577.1:p.Ile189Lys	NC_000023.10:g.20211632A>T	OMIM Allelic Variant:300075.0011	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.340C>T (p.Arg114Trp)	6197	RPS6KA3	Pathogenic	122454127	RCV000012421;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20213249	20213249	NM_004586.2:c.340C>T	NP_004577.1:p.Arg114Trp	NC_000023.10:g.20213249G>A	OMIM Allelic Variant:300075.0006	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.326-1G>C	6197	RPS6KA3	Pathogenic	587776755	RCV000012420;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20213264	20213264	NM_004586.2:c.326-1G>C		X:g.20213264C>G	OMIM Allelic Variant:300075.0005	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.244G>T (p.Val82Phe)	6197	RPS6KA3	Pathogenic	122454126	RCV000012419;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20222221	20222221	NM_004586.2:c.244G>T	NP_004577.1:p.Val82Phe	NC_000023.10:g.20222221C>A	OMIM Allelic Variant:300075.0004	C0265252 303600 Coffin-Lowry syndrome
NM_004586.2(RPS6KA3):c.224G>T (p.Gly75Val)	6197	RPS6KA3	Pathogenic	122454124	RCV000012417;	N	MedGen:C0265252,OMIM:303600,ORPHA:192,SNOMED CT:15182000	X	20227425	20227425	NM_004586.2:c.224G>T	NP_004577.1:p.Gly75Val	NC_000023.10:g.20227425C>A	OMIM Allelic Variant:300075.0002	C0265252 303600 Coffin-Lowry syndrome