MCID: RJS001
MIFTS: 22

Ruijs-Aalfs Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases, Liver diseases, Cancer diseases

Aliases & Classifications for Ruijs-Aalfs Syndrome

MalaCards integrated aliases for Ruijs-Aalfs Syndrome:

Name: Ruijs-Aalfs Syndrome 57 59 75 29 6 40 73
Rjals 57 75
Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
progeroid features-hepatocellular carcinoma predisposition syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adolescent;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on 3 patients from 2 families (last curated january 2015)


HPO:

32
ruijs-aalfs syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ruijs-Aalfs Syndrome

OMIM : 57 Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village. Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma. (616200)

MalaCards based summary : Ruijs-Aalfs Syndrome, is also known as rjals. An important gene associated with Ruijs-Aalfs Syndrome is SPRTN (SprT-Like N-Terminal Domain). Affiliated tissues include bone, eye and liver, and related phenotypes are pectus excavatum and frontal bossing

UniProtKB/Swiss-Prot : 75 Ruijs-Aalfs syndrome: A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma.

Related Diseases for Ruijs-Aalfs Syndrome

Symptoms & Phenotypes for Ruijs-Aalfs Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing
small frontotemporal diameter

Growth Height:
short stature

Head And Neck Nose:
bulbous nose
high nasal bridge

Abdomen Liver:
hepatocellular carcinoma

Skeletal:
delayed bone age

Chest External Features:
sloping shoulders

Head And Neck Mouth:
small upper lip

Head And Neck Eyes:
small deep-set eyes
posterior subcapsular cataract, bilateral

Skin Nails Hair Skin:
bilateral palmar simian creases

Neoplasia:
early-onset hepatocellular carcinoma
sensitivity to genotoxic agents

Skeletal Feet:
pes planus

Head And Neck Face:
micrognathia
triangular face

Muscle Soft Tissue:
lipodystrophy
muscular atrophy

Skeletal Spine:
thoracic kyphoscoliosis

Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Skeletal Limbs:
contractures of elbows

Skeletal Hands:
bilateral clinodactyly
joint restrictions of fingers, mild

Skin Nails Hair Hair:
premature graying of scalp hair

Laboratory Abnormalities:
structural abnormalities seen on chromosome analysis
elevated urinary hyaluronic acid levels


Clinical features from OMIM:

616200

Human phenotypes related to Ruijs-Aalfs Syndrome:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 frontal bossing 32 HP:0002007
3 delayed skeletal maturation 32 HP:0002750
4 pes planus 32 HP:0001763
5 short stature 32 HP:0004322
6 skeletal muscle atrophy 32 HP:0003202
7 micrognathia 32 HP:0000347
8 prominent nasal bridge 32 HP:0000426
9 bulbous nose 32 HP:0000414
10 down-sloping shoulders 32 HP:0200021
11 triangular face 32 HP:0000325
12 decreased body weight 32 HP:0004325
13 lipodystrophy 32 HP:0009125
14 hepatocellular carcinoma 32 HP:0001402
15 thoracic kyphoscoliosis 32 HP:0005659
16 elbow flexion contracture 32 HP:0002987
17 posterior subcapsular cataract 32 HP:0007787

Drugs & Therapeutics for Ruijs-Aalfs Syndrome

Search Clinical Trials , NIH Clinical Center for Ruijs-Aalfs Syndrome

Genetic Tests for Ruijs-Aalfs Syndrome

Genetic tests related to Ruijs-Aalfs Syndrome:

# Genetic test Affiliating Genes
1 Ruijs-Aalfs Syndrome 29 SPRTN

Anatomical Context for Ruijs-Aalfs Syndrome

MalaCards organs/tissues related to Ruijs-Aalfs Syndrome:

41
Bone, Eye, Liver, Skeletal Muscle

Publications for Ruijs-Aalfs Syndrome

Variations for Ruijs-Aalfs Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ruijs-Aalfs Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 SPRTN p.Tyr117Cys VAR_072708 rs527236213

ClinVar genetic disease variations for Ruijs-Aalfs Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPRTN NM_032018.6(SPRTN): c.718_718+3delGGTA deletion Pathogenic rs587593493 GRCh38 Chromosome 1, 231351571: 231351574
2 SPRTN NM_032018.6(SPRTN): c.718_718+3delGGTA deletion Pathogenic rs587593493 GRCh37 Chromosome 1, 231487317: 231487320
3 SPRTN NM_032018.6(SPRTN): c.350A> G (p.Tyr117Cys) single nucleotide variant Pathogenic rs527236213 GRCh37 Chromosome 1, 231483571: 231483571
4 SPRTN NM_032018.6(SPRTN): c.350A> G (p.Tyr117Cys) single nucleotide variant Pathogenic rs527236213 GRCh38 Chromosome 1, 231347825: 231347825
5 SPRTN NM_032018.6(SPRTN): c.723delA (p.Lys241Asnfs) deletion Pathogenic rs527236212 GRCh37 Chromosome 1, 231488360: 231488360
6 SPRTN NM_032018.6(SPRTN): c.723delA (p.Lys241Asnfs) deletion Pathogenic rs527236212 GRCh38 Chromosome 1, 231352614: 231352614

Cosmic variations for Ruijs-Aalfs Syndrome:

9
(show top 50) (show all 3321)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1626018 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 7
2 COSM1615665 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 7
3 COSM1602238 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 7
4 COSM6951673 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 7
5 COSM1616325 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 7
6 COSM3707828 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 7
7 COSM3707827 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 7
8 COSM1623051 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 7
9 COSM1612127 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 7
10 COSM1618451 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581L 4:145885684-145885684 7
11 COSM1611545 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 7
12 COSM1612685 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47V 19:52002156-52002156 7
13 COSM1612018 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 7
14 COSM1618219 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 7
15 COSM1624399 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 7
16 COSM1609798 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 7
17 COSM1605856 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 7
18 COSM1602404 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 7
19 COSM1607880 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221A 14:67807621-67807621 7
20 COSM3661787 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 7
21 COSM1270878 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 7
22 COSM1612900 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 7
23 COSM3663890 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 7
24 COSM6969923 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 7
25 COSM3717069 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 7
26 COSM6219678 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 7
27 COSM1613453 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 7
28 COSM3717124 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 7
29 COSM1608898 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 7
30 COSM3705381 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 7
31 COSM1601838 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 7
32 COSM1610770 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 7
33 COSM1601260 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 7
34 COSM1624206 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2136A>G p.T712T 8:80518852-80518852 7
35 COSM1624207 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2311A>G p.I771V 8:80519295-80519295 7
36 COSM1616586 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 7
37 COSM1624117 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1568A>G p.N523S 8:63187582-63187582 7
38 COSM1603361 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 7
39 COSM1617254 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167N 3:183722100-183722100 7
40 COSM3663693 XPO7 liver,NS,carcinoma,hepatocellular carcinoma c.806A>G p.Y269C 8:21977812-21977812 7
41 COSM1609152 XPO6 liver,NS,carcinoma,hepatocellular carcinoma c.882C>T p.G294G 16:28156289-28156289 7
42 COSM6957749 XPO1 liver,NS,carcinoma,hepatocellular carcinoma c.301+1G>C p.? 2:61522610-61522610 7
43 COSM1624082 XKR4 liver,NS,carcinoma,hepatocellular carcinoma c.1076A>G p.D359G 8:55523350-55523350 7
44 COSM1613650 XIRP2 liver,NS,carcinoma,hepatocellular carcinoma c.9350G>C p.R3117P 2:167250742-167250742 7
45 COSM3660541 XIRP1 liver,NS,carcinoma,hepatocellular carcinoma c.142C>A p.Q48K 3:39189304-39189304 7
46 COSM1625463 XIAP liver,NS,carcinoma,hepatocellular carcinoma c.493G>T p.A165S 23:123886155-123886155 7
47 COSM3663909 WWP1 liver,NS,carcinoma,hepatocellular carcinoma c.210-2A>G p.? 8:86381503-86381503 7
48 COSM1625309 WWC3 liver,NS,carcinoma,hepatocellular carcinoma c.1121C>A p.S374Y 23:10117180-10117180 7
49 COSM1621161 WTAP liver,NS,carcinoma,hepatocellular carcinoma c.283C>T p.Q95* 6:159748200-159748200 7
50 COSM6909096 WT1 liver,NS,carcinoma,hepatocellular carcinoma c.1019T>G p.L340* 11:32396283-32396283 7

Expression for Ruijs-Aalfs Syndrome

Search GEO for disease gene expression data for Ruijs-Aalfs Syndrome.

Pathways for Ruijs-Aalfs Syndrome

GO Terms for Ruijs-Aalfs Syndrome

Sources for Ruijs-Aalfs Syndrome

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