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Hello! Guest! Please Login or Register! Clinician Mode

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: Craniofacial Abnormalities (D019465)
Parent Node: Immunologic Deficiency Syndromes (D007153)
Parent Node: Learning Disorders (D007859)
..Starting node ..Riddle Syndrome (C567453)
Child Nodes:
Sister Nodes:
..Chromosome 10q26 Deletion Syndrome (C567182)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Dyscalculia (D060705)
..Dyslexia (D004410) 3
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Giacheti Syndrome (C567864)
..NF1 Microdeletion Syndrome (C563524)
..Riddle Syndrome (C567453)
..Slavotinek Pike Mills Hurst syndrome (C536672)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9867

Name:

Riddle Syndrome

Definition:

Alternative IDs:

OMIM:611943

ParentIDs:

MESH:D007153|MESH:D007859|MESH:D019465

TreeNumbers:

C05.660.207/C567453 |C10.597.606.150.550/C567453 |C16.131.621.207/C567453 |C20.673/C567453 |C23.888.592.604.150.550/C567453 |F03.550.350.500/C567453 |F03.550.450/C567453

Synonyms:

Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties

Slim Mappings:

Reference:

MedGen: C567453
MeSH: C567453
OMIM: 611943;

Genes: RNF168;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0001251	Ataxia
4	HP:0004315	Decreased circulating IgG level
5	HP:0000958	Dry skin
6	HP:0002721	Immunodeficiency
7	HP:0011133	Increased sensitivity to ionizing radiation
8	HP:0000252	Microcephaly	HP:0040283
9	HP:0011342	Mild global developmental delay
10	HP:0002206	Pulmonary fibrosis	HP:0040283
11	HP:0004322	Short stature

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	Disease_hgmd
NM_152617.3(RNF168):c.391C>T (p.Arg131Ter)	165918	RNF168	Pathogenic	201915239	RCV000128863;	N	MedGen:C2677792,OMIM:611943	3	196214437	196214437	NM_152617.3:c.391C>T	NP_689830.2:p.Arg131Ter	NC_000003.11:g.196214437G>A	OMIM Allelic Variant:612688.0003	C2677792 611943 Riddle syndrome